Incidental Mutation 'R9564:Smg1'
| ID |
721349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smg1
|
| Ensembl Gene |
ENSMUSG00000030655 |
| Gene Name |
SMG1 nonsense mediated mRNA decay associated PI3K related kinase |
| Synonyms |
5430435M13Rik, SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans), 2610207I05Rik, C130002K18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9564 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
117730531-117842893 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117812208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 52
(S52P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032891]
[ENSMUST00000179047]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000032891
AA Change: S52P
|
| SMART Domains |
Protein: ENSMUSP00000032891
Gene: ENSMUSG00000030655
AA Change: S52P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
55 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
147 |
621 |
7e-7 |
SMART |
|
Pfam:SMG1
|
629 |
1240 |
9.8e-249 |
PFAM |
|
low complexity region
|
1540 |
1551 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
1680 |
1942 |
8e-3 |
SMART |
|
low complexity region
|
2125 |
2141 |
N/A |
INTRINSIC |
|
PI3Kc
|
2149 |
2493 |
7.93e-50 |
SMART |
|
low complexity region
|
2759 |
2770 |
N/A |
INTRINSIC |
|
low complexity region
|
3425 |
3442 |
N/A |
INTRINSIC |
|
FATC
|
3626 |
3658 |
8.66e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179047
AA Change: S28P
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000137172
Gene: ENSMUSG00000030655
AA Change: S28P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
123 |
282 |
7e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179331
|
| SMART Domains |
Protein: ENSMUSP00000137592
Gene: ENSMUSG00000030655
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
71 |
545 |
1e-6 |
SMART |
|
low complexity region
|
602 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
646 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
718 |
N/A |
INTRINSIC |
|
low complexity region
|
898 |
915 |
N/A |
INTRINSIC |
|
low complexity region
|
1135 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1464 |
1475 |
N/A |
INTRINSIC |
|
low complexity region
|
2049 |
2065 |
N/A |
INTRINSIC |
|
PI3Kc
|
2073 |
2417 |
7.93e-50 |
SMART |
|
low complexity region
|
2683 |
2694 |
N/A |
INTRINSIC |
|
low complexity region
|
3349 |
3366 |
N/A |
INTRINSIC |
|
FATC
|
3550 |
3582 |
8.66e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit early embryonic lethality. Mice heteroygous for a gene trap allele exhibit abnormal tooth development, chronic inflammation, increased body weight, increased incidence of tumor formation and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 135 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
T |
12: 55,104,090 (GRCm39) |
N176K |
possibly damaging |
Het |
| 3110009E18Rik |
T |
A |
1: 120,097,006 (GRCm39) |
V134E |
|
Het |
| Abca8a |
T |
A |
11: 109,965,010 (GRCm39) |
H429L |
probably benign |
Het |
| Acsf2 |
T |
A |
11: 94,463,891 (GRCm39) |
I98F |
possibly damaging |
Het |
| Actr5 |
A |
G |
2: 158,470,135 (GRCm39) |
D255G |
probably damaging |
Het |
| Adam21 |
C |
T |
12: 81,605,833 (GRCm39) |
C643Y |
probably damaging |
Het |
| Adcy7 |
TGG |
TG |
8: 89,053,053 (GRCm39) |
|
probably null |
Het |
| AI429214 |
A |
G |
8: 37,461,067 (GRCm39) |
S72G |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,259,161 (GRCm39) |
V595A |
probably benign |
Het |
| Akt3 |
T |
C |
1: 176,907,769 (GRCm39) |
T209A |
possibly damaging |
Het |
| Alpk2 |
C |
T |
18: 65,439,014 (GRCm39) |
G793D |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,473,513 (GRCm39) |
K562R |
possibly damaging |
Het |
| Ankib1 |
T |
A |
5: 3,805,733 (GRCm39) |
N178I |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,217,758 (GRCm39) |
D1560E |
probably benign |
Het |
| Arhgap20 |
AAGAGAG |
AAGAG |
9: 51,761,413 (GRCm39) |
|
probably null |
Het |
| Arpc5l |
A |
G |
2: 38,905,124 (GRCm39) |
T152A |
probably benign |
Het |
| Asic3 |
C |
G |
5: 24,620,875 (GRCm39) |
D252E |
possibly damaging |
Het |
| Atf7 |
T |
A |
15: 102,442,712 (GRCm39) |
M466L |
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,420,554 (GRCm39) |
D1320G |
probably damaging |
Het |
| Bdkrb1 |
G |
A |
12: 105,571,078 (GRCm39) |
V215I |
probably benign |
Het |
| Brpf3 |
T |
G |
17: 29,026,152 (GRCm39) |
D408E |
probably benign |
Het |
| Btn2a2 |
C |
A |
13: 23,662,848 (GRCm39) |
K367N |
possibly damaging |
Het |
| Btnl10 |
T |
A |
11: 58,813,189 (GRCm39) |
F273I |
probably benign |
Het |
| C1qtnf12 |
C |
T |
4: 156,049,473 (GRCm39) |
T145I |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,046,516 (GRCm39) |
C1763R |
probably benign |
Het |
| Ccdc154 |
C |
A |
17: 25,387,381 (GRCm39) |
Q372K |
possibly damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,321,834 (GRCm39) |
Y326C |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,231,471 (GRCm39) |
V914E |
|
Het |
| Coil |
T |
A |
11: 88,872,626 (GRCm39) |
V329E |
possibly damaging |
Het |
| Copb1 |
A |
G |
7: 113,836,034 (GRCm39) |
I449T |
possibly damaging |
Het |
| Copg1 |
T |
G |
6: 87,869,683 (GRCm39) |
S187R |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,198,048 (GRCm39) |
F371Y |
probably benign |
Het |
| Cpt1b |
A |
T |
15: 89,303,472 (GRCm39) |
F554L |
probably damaging |
Het |
| Ctdsp2 |
A |
G |
10: 126,832,040 (GRCm39) |
D216G |
probably damaging |
Het |
| Ctla2b |
A |
T |
13: 61,043,856 (GRCm39) |
Y104* |
probably null |
Het |
| Cyp2j6 |
A |
G |
4: 96,414,245 (GRCm39) |
I340T |
probably damaging |
Het |
| Ddi1 |
T |
A |
9: 6,265,730 (GRCm39) |
D213V |
probably damaging |
Het |
| Degs1l |
G |
T |
1: 180,882,810 (GRCm39) |
V191F |
possibly damaging |
Het |
| Dennd2b |
G |
T |
7: 109,125,536 (GRCm39) |
D980E |
probably damaging |
Het |
| Dlgap1 |
T |
G |
17: 70,964,458 (GRCm39) |
N400K |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,290,422 (GRCm39) |
V1271M |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,932,021 (GRCm39) |
V1463E |
probably benign |
Het |
| Dstyk |
G |
A |
1: 132,362,023 (GRCm39) |
R151H |
probably damaging |
Het |
| Ehd3 |
T |
G |
17: 74,137,361 (GRCm39) |
V510G |
probably benign |
Het |
| Enthd1 |
G |
T |
15: 80,444,235 (GRCm39) |
Q107K |
probably damaging |
Het |
| Entpd7 |
A |
G |
19: 43,705,889 (GRCm39) |
E237G |
probably benign |
Het |
| Fadd |
A |
T |
7: 144,136,048 (GRCm39) |
C27S |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 63,999,240 (GRCm39) |
L874P |
possibly damaging |
Het |
| Fbxw17 |
T |
C |
13: 50,579,605 (GRCm39) |
W141R |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,161,387 (GRCm39) |
V63A |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,786,021 (GRCm39) |
D323G |
probably damaging |
Het |
| Gas8 |
T |
A |
8: 124,263,179 (GRCm39) |
V452E |
possibly damaging |
Het |
| Gdf9 |
T |
A |
11: 53,327,511 (GRCm39) |
S156T |
probably damaging |
Het |
| Hlcs |
T |
C |
16: 93,935,580 (GRCm39) |
S571G |
probably benign |
Het |
| Hmox2 |
A |
G |
16: 4,582,870 (GRCm39) |
Y201C |
probably damaging |
Het |
| Ikzf3 |
T |
A |
11: 98,358,032 (GRCm39) |
D435V |
probably damaging |
Het |
| Kank2 |
T |
C |
9: 21,705,852 (GRCm39) |
T389A |
possibly damaging |
Het |
| Kank2 |
A |
G |
9: 21,706,631 (GRCm39) |
L129P |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,125,565 (GRCm39) |
K339N |
probably benign |
Het |
| Lmntd2 |
A |
G |
7: 140,790,701 (GRCm39) |
S516P |
|
Het |
| Lrrc37 |
T |
C |
11: 103,503,822 (GRCm39) |
I2715M |
unknown |
Het |
| Lrrc40 |
T |
A |
3: 157,746,078 (GRCm39) |
V51D |
probably benign |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,536 (GRCm39) |
N331S |
probably benign |
Het |
| Lvrn |
T |
G |
18: 47,017,506 (GRCm39) |
I612S |
probably damaging |
Het |
| Map3k3 |
T |
A |
11: 106,041,860 (GRCm39) |
I413N |
probably damaging |
Het |
| Mcm9 |
C |
T |
10: 53,506,104 (GRCm39) |
A57T |
possibly damaging |
Het |
| Met |
T |
A |
6: 17,531,425 (GRCm39) |
F568I |
probably benign |
Het |
| Mkx |
A |
G |
18: 7,002,457 (GRCm39) |
F30L |
probably benign |
Het |
| Mrc1 |
A |
G |
2: 14,266,117 (GRCm39) |
N345S |
probably benign |
Het |
| Mstn |
T |
A |
1: 53,103,367 (GRCm39) |
N234K |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,440,992 (GRCm39) |
S554T |
possibly damaging |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,177,215 (GRCm39) |
V427A |
probably benign |
Het |
| Nr4a2 |
A |
T |
2: 57,000,190 (GRCm39) |
I365N |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,559,887 (GRCm39) |
D1215G |
probably damaging |
Het |
| Or2d3c |
A |
G |
7: 106,525,847 (GRCm39) |
M273T |
probably benign |
Het |
| Or6c33 |
T |
C |
10: 129,853,287 (GRCm39) |
I19T |
probably benign |
Het |
| Or7g18 |
G |
A |
9: 18,786,640 (GRCm39) |
V3I |
probably benign |
Het |
| Osbpl6 |
T |
A |
2: 76,426,321 (GRCm39) |
W967R |
probably damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,646,972 (GRCm39) |
S34P |
possibly damaging |
Het |
| Pibf1 |
G |
T |
14: 99,374,610 (GRCm39) |
D350Y |
possibly damaging |
Het |
| Pira1 |
C |
T |
7: 3,742,646 (GRCm39) |
V21M |
possibly damaging |
Het |
| Plekhs1 |
A |
T |
19: 56,461,628 (GRCm39) |
I123F |
probably damaging |
Het |
| Pold2 |
C |
T |
11: 5,824,163 (GRCm39) |
G214D |
probably benign |
Het |
| Pomc |
A |
G |
12: 4,009,971 (GRCm39) |
T71A |
probably benign |
Het |
| Pot1b |
A |
G |
17: 55,969,465 (GRCm39) |
S568P |
possibly damaging |
Het |
| Prkd2 |
C |
A |
7: 16,591,744 (GRCm39) |
Q592K |
possibly damaging |
Het |
| Prss28 |
C |
T |
17: 25,528,911 (GRCm39) |
A84V |
probably damaging |
Het |
| Prtg |
T |
A |
9: 72,766,153 (GRCm39) |
Y649N |
probably damaging |
Het |
| Psip1 |
T |
C |
4: 83,386,888 (GRCm39) |
E161G |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 185,014,691 (GRCm39) |
D1280G |
probably damaging |
Het |
| Rab3ip |
A |
T |
10: 116,751,780 (GRCm39) |
I329N |
probably damaging |
Het |
| Rarres2 |
C |
T |
6: 48,549,164 (GRCm39) |
G13D |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,477 (GRCm39) |
D475G |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 108,638,018 (GRCm39) |
V246A |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,340,900 (GRCm39) |
F124S |
probably damaging |
Het |
| Rpl27a |
C |
A |
7: 109,118,837 (GRCm39) |
H17N |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,536 (GRCm39) |
D623G |
probably benign |
Het |
| Rtl1 |
G |
T |
12: 109,556,713 (GRCm39) |
Q1709K |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,449,046 (GRCm39) |
D3697E |
probably damaging |
Het |
| Sec61b |
A |
G |
4: 47,483,049 (GRCm39) |
Y93C |
probably damaging |
Het |
| Serpina3a |
A |
T |
12: 104,084,886 (GRCm39) |
I94L |
probably benign |
Het |
| Skic2 |
C |
T |
17: 35,063,758 (GRCm39) |
A562T |
probably benign |
Het |
| Skor2 |
C |
T |
18: 76,946,376 (GRCm39) |
H33Y |
unknown |
Het |
| Slc12a3 |
G |
A |
8: 95,082,983 (GRCm39) |
V874I |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,591,861 (GRCm39) |
M1254L |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,957,893 (GRCm39) |
Y584H |
probably damaging |
Het |
| Spata32 |
T |
A |
11: 103,099,779 (GRCm39) |
Q242L |
possibly damaging |
Het |
| Sptbn4 |
T |
G |
7: 27,117,504 (GRCm39) |
E415A |
probably damaging |
Het |
| St6galnac5 |
T |
C |
3: 152,545,782 (GRCm39) |
R259G |
probably damaging |
Het |
| Stat3 |
T |
C |
11: 100,784,614 (GRCm39) |
I589V |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,249,123 (GRCm39) |
K1913M |
probably damaging |
Het |
| Tek |
C |
A |
4: 94,762,172 (GRCm39) |
N1103K |
probably damaging |
Het |
| Telo2 |
A |
G |
17: 25,334,199 (GRCm39) |
I16T |
probably benign |
Het |
| Tmem207 |
G |
T |
16: 26,335,499 (GRCm39) |
C79* |
probably null |
Het |
| Topaz1 |
C |
T |
9: 122,579,219 (GRCm39) |
H710Y |
probably benign |
Het |
| Trim33 |
T |
A |
3: 103,238,965 (GRCm39) |
S648T |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,851,240 (GRCm39) |
T1734A |
possibly damaging |
Het |
| Trpm8 |
A |
G |
1: 88,254,158 (GRCm39) |
E127G |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,248,918 (GRCm39) |
C1139S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,580,330 (GRCm39) |
E23521G |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,268,551 (GRCm39) |
I1669T |
possibly damaging |
Het |
| Vcpip1 |
C |
A |
1: 9,817,456 (GRCm39) |
S309I |
possibly damaging |
Het |
| Vmn1r208 |
A |
G |
13: 22,956,789 (GRCm39) |
V236A |
probably damaging |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,534 (GRCm39) |
F278S |
probably damaging |
Het |
| Vmn2r33 |
T |
C |
7: 7,557,081 (GRCm39) |
S540G |
probably benign |
Het |
| Vmn2r52 |
T |
C |
7: 9,905,182 (GRCm39) |
D219G |
probably benign |
Het |
| Wiz |
G |
T |
17: 32,575,939 (GRCm39) |
D812E |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,091,176 (GRCm39) |
P1787S |
probably benign |
Het |
| Zan |
T |
C |
5: 137,404,688 (GRCm39) |
E3858G |
unknown |
Het |
| Zfp760 |
T |
G |
17: 21,942,272 (GRCm39) |
H482Q |
possibly damaging |
Het |
| Zfp78 |
A |
G |
7: 6,381,390 (GRCm39) |
T147A |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,320,661 (GRCm39) |
I630K |
possibly damaging |
Het |
| Zpld1 |
T |
A |
16: 55,061,701 (GRCm39) |
R227* |
probably null |
Het |
|
| Other mutations in Smg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Smg1
|
APN |
7 |
117,797,494 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00481:Smg1
|
APN |
7 |
117,810,017 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL00503:Smg1
|
APN |
7 |
117,784,706 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL00927:Smg1
|
APN |
7 |
117,739,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01333:Smg1
|
APN |
7 |
117,762,601 (GRCm39) |
splice site |
probably benign |
|
|
IGL01344:Smg1
|
APN |
7 |
117,790,059 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01397:Smg1
|
APN |
7 |
117,762,444 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01403:Smg1
|
APN |
7 |
117,757,355 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01573:Smg1
|
APN |
7 |
117,767,185 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01872:Smg1
|
APN |
7 |
117,748,167 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02010:Smg1
|
APN |
7 |
117,785,369 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02158:Smg1
|
APN |
7 |
117,812,169 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02268:Smg1
|
APN |
7 |
117,781,764 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02314:Smg1
|
APN |
7 |
117,753,932 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02552:Smg1
|
APN |
7 |
117,795,117 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02577:Smg1
|
APN |
7 |
117,802,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02859:Smg1
|
APN |
7 |
117,748,156 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02890:Smg1
|
APN |
7 |
117,784,724 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02892:Smg1
|
APN |
7 |
117,767,178 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03119:Smg1
|
APN |
7 |
117,794,336 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03123:Smg1
|
APN |
7 |
117,756,404 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL03128:Smg1
|
APN |
7 |
117,802,282 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03184:Smg1
|
APN |
7 |
117,779,603 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
PIT4508001:Smg1
|
UTSW |
7 |
117,784,764 (GRCm39) |
missense |
unknown |
|
|
R0010:Smg1
|
UTSW |
7 |
117,771,082 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0010:Smg1
|
UTSW |
7 |
117,771,082 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0025:Smg1
|
UTSW |
7 |
117,811,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0025:Smg1
|
UTSW |
7 |
117,811,666 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0098:Smg1
|
UTSW |
7 |
117,744,690 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0139:Smg1
|
UTSW |
7 |
117,751,898 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0371:Smg1
|
UTSW |
7 |
117,767,523 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0415:Smg1
|
UTSW |
7 |
117,781,691 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0416:Smg1
|
UTSW |
7 |
117,783,684 (GRCm39) |
splice site |
probably benign |
|
|
R0423:Smg1
|
UTSW |
7 |
117,776,103 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0600:Smg1
|
UTSW |
7 |
117,759,606 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0626:Smg1
|
UTSW |
7 |
117,781,606 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0627:Smg1
|
UTSW |
7 |
117,767,084 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0727:Smg1
|
UTSW |
7 |
117,765,645 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0729:Smg1
|
UTSW |
7 |
117,745,512 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0841:Smg1
|
UTSW |
7 |
117,742,524 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1114:Smg1
|
UTSW |
7 |
117,759,013 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1256:Smg1
|
UTSW |
7 |
117,802,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1298:Smg1
|
UTSW |
7 |
117,767,434 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1370:Smg1
|
UTSW |
7 |
117,758,975 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1591:Smg1
|
UTSW |
7 |
117,756,142 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1736:Smg1
|
UTSW |
7 |
117,765,190 (GRCm39) |
splice site |
probably null |
|
|
R1755:Smg1
|
UTSW |
7 |
117,802,287 (GRCm39) |
nonsense |
probably null |
|
|
R1765:Smg1
|
UTSW |
7 |
117,738,938 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1789:Smg1
|
UTSW |
7 |
117,745,021 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1845:Smg1
|
UTSW |
7 |
117,753,845 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1908:Smg1
|
UTSW |
7 |
117,753,422 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1909:Smg1
|
UTSW |
7 |
117,753,422 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1942:Smg1
|
UTSW |
7 |
117,757,326 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2064:Smg1
|
UTSW |
7 |
117,756,090 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2072:Smg1
|
UTSW |
7 |
117,762,389 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2154:Smg1
|
UTSW |
7 |
117,757,299 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2895:Smg1
|
UTSW |
7 |
117,788,366 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R2915:Smg1
|
UTSW |
7 |
117,810,102 (GRCm39) |
splice site |
probably benign |
|
|
R3416:Smg1
|
UTSW |
7 |
117,748,076 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3417:Smg1
|
UTSW |
7 |
117,748,076 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3873:Smg1
|
UTSW |
7 |
117,753,885 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4082:Smg1
|
UTSW |
7 |
117,759,469 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4230:Smg1
|
UTSW |
7 |
117,747,956 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4304:Smg1
|
UTSW |
7 |
117,738,741 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4549:Smg1
|
UTSW |
7 |
117,758,906 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4571:Smg1
|
UTSW |
7 |
117,738,688 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4638:Smg1
|
UTSW |
7 |
117,795,149 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4642:Smg1
|
UTSW |
7 |
117,753,487 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4656:Smg1
|
UTSW |
7 |
117,812,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4754:Smg1
|
UTSW |
7 |
117,755,954 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4798:Smg1
|
UTSW |
7 |
117,779,697 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4906:Smg1
|
UTSW |
7 |
117,751,631 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4978:Smg1
|
UTSW |
7 |
117,753,470 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4989:Smg1
|
UTSW |
7 |
117,807,274 (GRCm39) |
missense |
probably benign |
|
|
R4989:Smg1
|
UTSW |
7 |
117,757,323 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5026:Smg1
|
UTSW |
7 |
117,792,768 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5124:Smg1
|
UTSW |
7 |
117,812,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5318:Smg1
|
UTSW |
7 |
117,759,427 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5356:Smg1
|
UTSW |
7 |
117,794,356 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5404:Smg1
|
UTSW |
7 |
117,806,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Smg1
|
UTSW |
7 |
117,745,294 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5441:Smg1
|
UTSW |
7 |
117,794,304 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5490:Smg1
|
UTSW |
7 |
117,738,659 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5541:Smg1
|
UTSW |
7 |
117,756,386 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5564:Smg1
|
UTSW |
7 |
117,789,042 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5580:Smg1
|
UTSW |
7 |
117,748,125 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5600:Smg1
|
UTSW |
7 |
117,767,107 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5628:Smg1
|
UTSW |
7 |
117,753,924 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5646:Smg1
|
UTSW |
7 |
117,811,782 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5656:Smg1
|
UTSW |
7 |
117,753,887 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5660:Smg1
|
UTSW |
7 |
117,742,570 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5706:Smg1
|
UTSW |
7 |
117,744,813 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5786:Smg1
|
UTSW |
7 |
117,812,120 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5890:Smg1
|
UTSW |
7 |
117,789,809 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5912:Smg1
|
UTSW |
7 |
117,753,809 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5977:Smg1
|
UTSW |
7 |
117,740,580 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5993:Smg1
|
UTSW |
7 |
117,739,732 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6161:Smg1
|
UTSW |
7 |
117,762,553 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6187:Smg1
|
UTSW |
7 |
117,788,386 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6264:Smg1
|
UTSW |
7 |
117,765,310 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6331:Smg1
|
UTSW |
7 |
117,753,500 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6561:Smg1
|
UTSW |
7 |
117,765,300 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6571:Smg1
|
UTSW |
7 |
117,783,737 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6736:Smg1
|
UTSW |
7 |
117,756,389 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6752:Smg1
|
UTSW |
7 |
117,762,539 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6777:Smg1
|
UTSW |
7 |
117,788,340 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6788:Smg1
|
UTSW |
7 |
117,783,794 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6883:Smg1
|
UTSW |
7 |
117,767,403 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6991:Smg1
|
UTSW |
7 |
117,767,091 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7056:Smg1
|
UTSW |
7 |
117,745,623 (GRCm39) |
splice site |
probably benign |
|
|
R7058:Smg1
|
UTSW |
7 |
117,797,502 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7100:Smg1
|
UTSW |
7 |
117,783,743 (GRCm39) |
missense |
unknown |
|
|
R7133:Smg1
|
UTSW |
7 |
117,752,131 (GRCm39) |
missense |
unknown |
|
|
R7221:Smg1
|
UTSW |
7 |
117,782,020 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7229:Smg1
|
UTSW |
7 |
117,776,178 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7293:Smg1
|
UTSW |
7 |
117,765,322 (GRCm39) |
missense |
unknown |
|
|
R7361:Smg1
|
UTSW |
7 |
117,784,200 (GRCm39) |
missense |
unknown |
|
|
R7438:Smg1
|
UTSW |
7 |
117,795,116 (GRCm39) |
missense |
unknown |
|
|
R7686:Smg1
|
UTSW |
7 |
117,767,081 (GRCm39) |
missense |
unknown |
|
|
R7798:Smg1
|
UTSW |
7 |
117,771,162 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7908:Smg1
|
UTSW |
7 |
117,785,357 (GRCm39) |
missense |
unknown |
|
|
R7923:Smg1
|
UTSW |
7 |
117,742,545 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7978:Smg1
|
UTSW |
7 |
117,792,878 (GRCm39) |
missense |
unknown |
|
|
R7997:Smg1
|
UTSW |
7 |
117,772,365 (GRCm39) |
missense |
unknown |
|
|
R7997:Smg1
|
UTSW |
7 |
117,772,364 (GRCm39) |
missense |
unknown |
|
|
R8025:Smg1
|
UTSW |
7 |
117,806,212 (GRCm39) |
nonsense |
probably null |
|
|
R8056:Smg1
|
UTSW |
7 |
117,759,589 (GRCm39) |
missense |
unknown |
|
|
R8061:Smg1
|
UTSW |
7 |
117,751,610 (GRCm39) |
missense |
unknown |
|
|
R8095:Smg1
|
UTSW |
7 |
117,772,285 (GRCm39) |
missense |
unknown |
|
|
R8198:Smg1
|
UTSW |
7 |
117,744,829 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8399:Smg1
|
UTSW |
7 |
117,789,794 (GRCm39) |
missense |
unknown |
|
|
R8445:Smg1
|
UTSW |
7 |
117,736,200 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8519:Smg1
|
UTSW |
7 |
117,770,982 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8817:Smg1
|
UTSW |
7 |
117,758,887 (GRCm39) |
missense |
unknown |
|
|
R8832:Smg1
|
UTSW |
7 |
117,739,006 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8855:Smg1
|
UTSW |
7 |
117,806,122 (GRCm39) |
missense |
unknown |
|
|
R8866:Smg1
|
UTSW |
7 |
117,806,122 (GRCm39) |
missense |
unknown |
|
|
R8946:Smg1
|
UTSW |
7 |
117,751,900 (GRCm39) |
missense |
probably null |
|
|
R8954:Smg1
|
UTSW |
7 |
117,806,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8967:Smg1
|
UTSW |
7 |
117,765,739 (GRCm39) |
missense |
unknown |
|
|
R9072:Smg1
|
UTSW |
7 |
117,783,032 (GRCm39) |
missense |
unknown |
|
|
R9090:Smg1
|
UTSW |
7 |
117,811,786 (GRCm39) |
missense |
unknown |
|
|
R9156:Smg1
|
UTSW |
7 |
117,753,884 (GRCm39) |
missense |
unknown |
|
|
R9198:Smg1
|
UTSW |
7 |
117,795,179 (GRCm39) |
missense |
unknown |
|
|
R9240:Smg1
|
UTSW |
7 |
117,739,031 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9271:Smg1
|
UTSW |
7 |
117,811,786 (GRCm39) |
missense |
unknown |
|
|
R9289:Smg1
|
UTSW |
7 |
117,744,639 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9378:Smg1
|
UTSW |
7 |
117,777,998 (GRCm39) |
nonsense |
probably null |
|
|
R9396:Smg1
|
UTSW |
7 |
117,807,303 (GRCm39) |
missense |
unknown |
|
|
R9469:Smg1
|
UTSW |
7 |
117,739,774 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9539:Smg1
|
UTSW |
7 |
117,744,976 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9549:Smg1
|
UTSW |
7 |
117,795,254 (GRCm39) |
missense |
unknown |
|
|
R9563:Smg1
|
UTSW |
7 |
117,812,208 (GRCm39) |
missense |
unknown |
|
|
R9597:Smg1
|
UTSW |
7 |
117,812,270 (GRCm39) |
missense |
unknown |
|
|
R9643:Smg1
|
UTSW |
7 |
117,755,933 (GRCm39) |
missense |
unknown |
|
|
R9703:Smg1
|
UTSW |
7 |
117,739,744 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9730:Smg1
|
UTSW |
7 |
117,783,004 (GRCm39) |
missense |
unknown |
|
|
Z1088:Smg1
|
UTSW |
7 |
117,777,622 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Z1088:Smg1
|
UTSW |
7 |
117,767,884 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Smg1
|
UTSW |
7 |
117,753,858 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Z1176:Smg1
|
UTSW |
7 |
117,806,130 (GRCm39) |
missense |
unknown |
|
|
Z1176:Smg1
|
UTSW |
7 |
117,806,110 (GRCm39) |
missense |
unknown |
|
|
Z1177:Smg1
|
UTSW |
7 |
117,812,256 (GRCm39) |
missense |
unknown |
|
|
Z1177:Smg1
|
UTSW |
7 |
117,767,831 (GRCm39) |
missense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGGAAGAACCTCAGATG -3'
(R):5'- AAGGCTTACTAGACAATGGAGTGC -3'
Sequencing Primer
(F):5'- CTGGAAGAACCTCAGATGTTACCTG -3'
(R):5'- TGCTTATATAGAGTTATGGCTGAGC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation