Incidental Mutation 'R9563:Smg1'
| ID |
721219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smg1
|
| Ensembl Gene |
ENSMUSG00000030655 |
| Gene Name |
SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) |
| Synonyms |
2610207I05Rik, 5430435M13Rik, C130002K18Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9563 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118131308-118243670 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118212985 bp (GRCm38)
|
| 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: 98.9%
|
| 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: 127 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
G |
15: 8,187,079 (GRCm38) |
L594V |
probably benign |
Het |
| 9130409I23Rik |
G |
T |
1: 181,055,245 (GRCm38) |
V191F |
possibly damaging |
Het |
| A2m |
T |
A |
6: 121,668,050 (GRCm38) |
D953E |
probably damaging |
Het |
| Acod1 |
A |
C |
14: 103,049,673 (GRCm38) |
Y80S |
probably damaging |
Het |
| Actr5 |
A |
G |
2: 158,628,215 (GRCm38) |
D255G |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,394,707 (GRCm38) |
V393A |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,562,217 (GRCm38) |
K562R |
possibly damaging |
Het |
| Amz1 |
T |
A |
5: 140,752,378 (GRCm38) |
D464E |
probably damaging |
Het |
| Anapc1 |
G |
A |
2: 128,664,060 (GRCm38) |
Q619* |
probably null |
Het |
| Arfgef3 |
C |
T |
10: 18,646,527 (GRCm38) |
G584R |
probably damaging |
Het |
| Armt1 |
AC |
A |
10: 4,450,848 (GRCm38) |
|
probably null |
Het |
| Atr |
G |
C |
9: 95,920,780 (GRCm38) |
V1832L |
probably damaging |
Het |
| Bsn |
T |
C |
9: 108,107,417 (GRCm38) |
D374G |
|
Het |
| Cap1 |
A |
G |
4: 122,864,712 (GRCm38) |
V225A |
probably benign |
Het |
| Cc2d1a |
A |
G |
8: 84,137,129 (GRCm38) |
S562P |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,393,624 (GRCm38) |
N141S |
possibly damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,299,328 (GRCm38) |
V1390A |
possibly damaging |
Het |
| Cdc42ep1 |
A |
T |
15: 78,849,582 (GRCm38) |
H294L |
probably benign |
Het |
| Col6a6 |
C |
A |
9: 105,695,753 (GRCm38) |
G2185C |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,962,741 (GRCm38) |
V1232A |
unknown |
Het |
| Copb1 |
A |
G |
7: 114,236,799 (GRCm38) |
I449T |
possibly damaging |
Het |
| Ctdsp2 |
A |
G |
10: 126,996,171 (GRCm38) |
D216G |
probably damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,427,468 (GRCm38) |
L738* |
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,367,383 (GRCm38) |
K1645N |
probably benign |
Het |
| Cul9 |
T |
A |
17: 46,509,971 (GRCm38) |
T1927S |
probably benign |
Het |
| Cyfip2 |
A |
G |
11: 46,260,880 (GRCm38) |
C531R |
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,526,008 (GRCm38) |
I340T |
probably damaging |
Het |
| Daam1 |
A |
G |
12: 71,945,477 (GRCm38) |
E322G |
unknown |
Het |
| Dab2ip |
T |
A |
2: 35,719,903 (GRCm38) |
L710* |
probably null |
Het |
| Dph1 |
T |
C |
11: 75,185,999 (GRCm38) |
T60A |
possibly damaging |
Het |
| Eme1 |
T |
C |
11: 94,650,513 (GRCm38) |
D161G |
probably benign |
Het |
| Epha3 |
C |
T |
16: 63,546,147 (GRCm38) |
G980D |
possibly damaging |
Het |
| Eri3 |
T |
A |
4: 117,564,816 (GRCm38) |
V136E |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,319,798 (GRCm38) |
I1669N |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,599,623 (GRCm38) |
I568T |
probably damaging |
Het |
| F3 |
T |
A |
3: 121,734,173 (GRCm38) |
L85H |
|
Het |
| Fam186b |
G |
A |
15: 99,279,735 (GRCm38) |
A570V |
probably damaging |
Het |
| Fam212a |
T |
A |
9: 107,984,289 (GRCm38) |
Y276F |
probably benign |
Het |
| Fbxw14 |
T |
C |
9: 109,277,267 (GRCm38) |
Y234C |
probably benign |
Het |
| Fbxw25 |
T |
A |
9: 109,654,608 (GRCm38) |
N179Y |
|
Het |
| Foxr1 |
T |
A |
9: 44,440,902 (GRCm38) |
|
probably benign |
Het |
| Gas8 |
T |
A |
8: 123,536,440 (GRCm38) |
V452E |
possibly damaging |
Het |
| Gdpd4 |
T |
C |
7: 98,000,162 (GRCm38) |
V450A |
probably damaging |
Het |
| Gm17359 |
A |
T |
3: 79,449,309 (GRCm38) |
M140L |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,724,823 (GRCm38) |
Y191C |
probably benign |
Het |
| Haus3 |
G |
A |
5: 34,167,956 (GRCm38) |
R120W |
probably benign |
Het |
| Herc1 |
G |
T |
9: 66,386,911 (GRCm38) |
|
probably null |
Het |
| Hist1h3i |
T |
C |
13: 21,783,051 (GRCm38) |
D107G |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,570,645 (GRCm38) |
W166R |
probably damaging |
Het |
| Itga7 |
C |
T |
10: 128,953,800 (GRCm38) |
A1003V |
probably damaging |
Het |
| Itga8 |
T |
A |
2: 12,160,408 (GRCm38) |
I797F |
possibly damaging |
Het |
| Kank2 |
T |
C |
9: 21,794,556 (GRCm38) |
T389A |
possibly damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,709,513 (GRCm38) |
I203N |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,149,428 (GRCm38) |
L396Q |
probably damaging |
Het |
| Kng1 |
T |
G |
16: 23,060,420 (GRCm38) |
I78S |
probably damaging |
Het |
| Ldlrad4 |
T |
C |
18: 68,254,480 (GRCm38) |
S288P |
probably benign |
Het |
| Lmntd2 |
A |
G |
7: 141,210,788 (GRCm38) |
S516P |
|
Het |
| Lrp1b |
T |
A |
2: 41,295,699 (GRCm38) |
I1449F |
|
Het |
| Lrrk2 |
T |
A |
15: 91,749,840 (GRCm38) |
I1380K |
possibly damaging |
Het |
| Lvrn |
T |
G |
18: 46,884,439 (GRCm38) |
I612S |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,637,823 (GRCm38) |
L940P |
probably benign |
Het |
| Man2a2 |
T |
A |
7: 80,356,353 (GRCm38) |
M996L |
probably benign |
Het |
| Map3k3 |
T |
A |
11: 106,151,034 (GRCm38) |
I413N |
probably damaging |
Het |
| Map4k5 |
A |
G |
12: 69,816,393 (GRCm38) |
V629A |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 23,890,924 (GRCm38) |
E325G |
unknown |
Het |
| Mbnl1 |
A |
G |
3: 60,613,294 (GRCm38) |
N101S |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,885,051 (GRCm38) |
C199S |
probably damaging |
Het |
| Mmab |
T |
C |
5: 114,436,789 (GRCm38) |
E141G |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,313,407 (GRCm38) |
L1317P |
|
Het |
| Muc6 |
T |
A |
7: 141,637,870 (GRCm38) |
T2297S |
possibly damaging |
Het |
| Myom2 |
A |
T |
8: 15,108,399 (GRCm38) |
K784* |
probably null |
Het |
| Nek1 |
A |
G |
8: 61,124,123 (GRCm38) |
E1118G |
probably benign |
Het |
| Nrtn |
A |
G |
17: 56,751,416 (GRCm38) |
V195A |
probably damaging |
Het |
| Nsd3 |
G |
A |
8: 25,714,203 (GRCm38) |
V420I |
|
Het |
| Olfr1094 |
A |
G |
2: 86,828,754 (GRCm38) |
M1V |
probably null |
Het |
| Olfr1451 |
T |
A |
19: 12,999,619 (GRCm38) |
I211N |
probably damaging |
Het |
| Olfr205 |
T |
C |
16: 59,329,402 (GRCm38) |
I36V |
probably benign |
Het |
| Olfr522 |
G |
A |
7: 140,162,320 (GRCm38) |
T210I |
probably damaging |
Het |
| Olfr618 |
A |
T |
7: 103,598,018 (GRCm38) |
Q234L |
probably benign |
Het |
| Olfr677 |
T |
C |
7: 105,057,074 (GRCm38) |
L276P |
possibly damaging |
Het |
| Olfr820 |
T |
C |
10: 130,017,418 (GRCm38) |
I19T |
probably benign |
Het |
| Olfr923 |
A |
T |
9: 38,827,718 (GRCm38) |
H3L |
probably benign |
Het |
| Pde10a |
G |
T |
17: 8,801,878 (GRCm38) |
A216S |
unknown |
Het |
| Phldb2 |
T |
C |
16: 45,824,884 (GRCm38) |
T400A |
possibly damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,865,502 (GRCm38) |
T1920S |
|
Het |
| Ptgs2 |
T |
A |
1: 150,105,668 (GRCm38) |
N567K |
probably benign |
Het |
| Pwp1 |
T |
A |
10: 85,876,506 (GRCm38) |
D141E |
probably damaging |
Het |
| Rab3ip |
T |
C |
10: 116,918,763 (GRCm38) |
E296G |
probably null |
Het |
| Rb1cc1 |
A |
G |
1: 6,244,115 (GRCm38) |
K337R |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,955,520 (GRCm38) |
D475G |
probably damaging |
Het |
| Ric3 |
T |
C |
7: 109,038,790 (GRCm38) |
E253G |
possibly damaging |
Het |
| Rictor |
A |
T |
15: 6,768,081 (GRCm38) |
N306I |
possibly damaging |
Het |
| Rnf214 |
A |
T |
9: 45,899,843 (GRCm38) |
V174E |
possibly damaging |
Het |
| Robo3 |
A |
G |
9: 37,429,604 (GRCm38) |
F124S |
probably damaging |
Het |
| Rrad |
A |
G |
8: 104,628,692 (GRCm38) |
F228S |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,461,251 (GRCm38) |
M1717K |
probably damaging |
Het |
| Scn3b |
A |
G |
9: 40,282,433 (GRCm38) |
D152G |
probably benign |
Het |
| Scn5a |
C |
A |
9: 119,486,737 (GRCm38) |
R1635L |
probably damaging |
Het |
| Sec61b |
A |
G |
4: 47,483,049 (GRCm38) |
Y93C |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,166,491 (GRCm38) |
Y739* |
probably null |
Het |
| Skor2 |
C |
T |
18: 76,858,681 (GRCm38) |
H33Y |
unknown |
Het |
| Slc26a7 |
T |
C |
4: 14,519,496 (GRCm38) |
N508S |
probably benign |
Het |
| Slc7a12 |
A |
G |
3: 14,499,300 (GRCm38) |
I349V |
possibly damaging |
Het |
| Slit1 |
T |
C |
19: 41,608,435 (GRCm38) |
Y1075C |
probably damaging |
Het |
| Sltm |
C |
T |
9: 70,573,559 (GRCm38) |
A231V |
unknown |
Het |
| Soga1 |
G |
A |
2: 157,060,262 (GRCm38) |
R278C |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 42,046,597 (GRCm38) |
Y584H |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,478,034 (GRCm38) |
S142R |
probably benign |
Het |
| Stard3 |
A |
G |
11: 98,379,971 (GRCm38) |
|
probably null |
Het |
| Strn3 |
G |
T |
12: 51,627,517 (GRCm38) |
H531N |
possibly damaging |
Het |
| Stx17 |
A |
G |
4: 48,180,739 (GRCm38) |
T195A |
probably damaging |
Het |
| Tekt2 |
C |
T |
4: 126,323,651 (GRCm38) |
R207H |
probably damaging |
Het |
| Tmed5 |
A |
C |
5: 108,132,234 (GRCm38) |
|
probably null |
Het |
| Tmem132a |
C |
T |
19: 10,861,596 (GRCm38) |
R494H |
probably benign |
Het |
| Tom1 |
A |
G |
8: 75,060,549 (GRCm38) |
K406E |
probably benign |
Het |
| Trav5d-4 |
A |
T |
14: 53,002,016 (GRCm38) |
N43Y |
probably damaging |
Het |
| Trbv19 |
G |
T |
6: 41,179,011 (GRCm38) |
K105N |
possibly damaging |
Het |
| Trim34a |
C |
T |
7: 104,261,121 (GRCm38) |
Q377* |
probably null |
Het |
| Trp53bp2 |
T |
A |
1: 182,448,813 (GRCm38) |
N786K |
probably benign |
Het |
| Trpc3 |
A |
G |
3: 36,651,534 (GRCm38) |
M504T |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,223,226 (GRCm38) |
M545L |
probably benign |
Het |
| Uggt1 |
A |
C |
1: 36,165,546 (GRCm38) |
V996G |
possibly damaging |
Het |
| Vmn2r65 |
G |
A |
7: 84,940,672 (GRCm38) |
Q679* |
probably null |
Het |
| Wdfy4 |
T |
C |
14: 32,970,876 (GRCm38) |
I2958V |
|
Het |
| Zbtb37 |
C |
T |
1: 161,020,270 (GRCm38) |
S389N |
possibly damaging |
Het |
| Zfp235 |
T |
C |
7: 24,142,244 (GRCm38) |
V696A |
possibly damaging |
Het |
| Zzef1 |
T |
A |
11: 72,874,906 (GRCm38) |
C1420S |
probably damaging |
Het |
|
| Other mutations in Smg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Smg1
|
APN |
7 |
118,198,271 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL00481:Smg1
|
APN |
7 |
118,210,794 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL00503:Smg1
|
APN |
7 |
118,185,483 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL00927:Smg1
|
APN |
7 |
118,140,632 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01333:Smg1
|
APN |
7 |
118,163,378 (GRCm38) |
splice site |
probably benign |
|
|
IGL01344:Smg1
|
APN |
7 |
118,190,836 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL01397:Smg1
|
APN |
7 |
118,163,221 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL01403:Smg1
|
APN |
7 |
118,158,132 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL01573:Smg1
|
APN |
7 |
118,167,962 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL01872:Smg1
|
APN |
7 |
118,148,944 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02010:Smg1
|
APN |
7 |
118,186,146 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02158:Smg1
|
APN |
7 |
118,212,946 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02268:Smg1
|
APN |
7 |
118,182,541 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02314:Smg1
|
APN |
7 |
118,154,709 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02552:Smg1
|
APN |
7 |
118,195,894 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02577:Smg1
|
APN |
7 |
118,203,122 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02859:Smg1
|
APN |
7 |
118,148,933 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02890:Smg1
|
APN |
7 |
118,185,501 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL02892:Smg1
|
APN |
7 |
118,167,955 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL03119:Smg1
|
APN |
7 |
118,195,113 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL03123:Smg1
|
APN |
7 |
118,157,181 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL03128:Smg1
|
APN |
7 |
118,203,059 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03184:Smg1
|
APN |
7 |
118,180,380 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
PIT4508001:Smg1
|
UTSW |
7 |
118,185,541 (GRCm38) |
missense |
unknown |
|
|
R0010:Smg1
|
UTSW |
7 |
118,171,859 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0010:Smg1
|
UTSW |
7 |
118,171,859 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0025:Smg1
|
UTSW |
7 |
118,212,443 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0025:Smg1
|
UTSW |
7 |
118,212,443 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0098:Smg1
|
UTSW |
7 |
118,145,467 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0139:Smg1
|
UTSW |
7 |
118,152,675 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0371:Smg1
|
UTSW |
7 |
118,168,300 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0415:Smg1
|
UTSW |
7 |
118,182,468 (GRCm38) |
missense |
probably benign |
0.34 |
|
R0416:Smg1
|
UTSW |
7 |
118,184,461 (GRCm38) |
splice site |
probably benign |
|
|
R0423:Smg1
|
UTSW |
7 |
118,176,880 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0600:Smg1
|
UTSW |
7 |
118,160,383 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0626:Smg1
|
UTSW |
7 |
118,182,383 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0627:Smg1
|
UTSW |
7 |
118,167,861 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0727:Smg1
|
UTSW |
7 |
118,166,422 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0729:Smg1
|
UTSW |
7 |
118,146,289 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R0841:Smg1
|
UTSW |
7 |
118,143,301 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R1114:Smg1
|
UTSW |
7 |
118,159,790 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R1256:Smg1
|
UTSW |
7 |
118,203,087 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1298:Smg1
|
UTSW |
7 |
118,168,211 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R1370:Smg1
|
UTSW |
7 |
118,159,752 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R1591:Smg1
|
UTSW |
7 |
118,156,919 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R1736:Smg1
|
UTSW |
7 |
118,165,967 (GRCm38) |
splice site |
probably null |
|
|
R1755:Smg1
|
UTSW |
7 |
118,203,064 (GRCm38) |
nonsense |
probably null |
|
|
R1765:Smg1
|
UTSW |
7 |
118,139,715 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1789:Smg1
|
UTSW |
7 |
118,145,798 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1845:Smg1
|
UTSW |
7 |
118,154,622 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R1908:Smg1
|
UTSW |
7 |
118,154,199 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R1909:Smg1
|
UTSW |
7 |
118,154,199 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R1942:Smg1
|
UTSW |
7 |
118,158,103 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R2064:Smg1
|
UTSW |
7 |
118,156,867 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R2072:Smg1
|
UTSW |
7 |
118,163,166 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R2154:Smg1
|
UTSW |
7 |
118,158,076 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R2895:Smg1
|
UTSW |
7 |
118,189,143 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R2915:Smg1
|
UTSW |
7 |
118,210,879 (GRCm38) |
splice site |
probably benign |
|
|
R3416:Smg1
|
UTSW |
7 |
118,148,853 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R3417:Smg1
|
UTSW |
7 |
118,148,853 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R3873:Smg1
|
UTSW |
7 |
118,154,662 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4082:Smg1
|
UTSW |
7 |
118,160,246 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4230:Smg1
|
UTSW |
7 |
118,148,733 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4304:Smg1
|
UTSW |
7 |
118,139,518 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4549:Smg1
|
UTSW |
7 |
118,159,683 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4571:Smg1
|
UTSW |
7 |
118,139,465 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4638:Smg1
|
UTSW |
7 |
118,195,926 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4642:Smg1
|
UTSW |
7 |
118,154,264 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4656:Smg1
|
UTSW |
7 |
118,212,951 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4754:Smg1
|
UTSW |
7 |
118,156,731 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4798:Smg1
|
UTSW |
7 |
118,180,474 (GRCm38) |
missense |
probably benign |
0.32 |
|
R4906:Smg1
|
UTSW |
7 |
118,152,408 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4978:Smg1
|
UTSW |
7 |
118,154,247 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R4989:Smg1
|
UTSW |
7 |
118,208,051 (GRCm38) |
missense |
probably benign |
|
|
R4989:Smg1
|
UTSW |
7 |
118,158,100 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5026:Smg1
|
UTSW |
7 |
118,193,545 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5124:Smg1
|
UTSW |
7 |
118,213,012 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5318:Smg1
|
UTSW |
7 |
118,160,204 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5356:Smg1
|
UTSW |
7 |
118,195,133 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5404:Smg1
|
UTSW |
7 |
118,206,908 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5423:Smg1
|
UTSW |
7 |
118,146,071 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5441:Smg1
|
UTSW |
7 |
118,195,081 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5490:Smg1
|
UTSW |
7 |
118,139,436 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5541:Smg1
|
UTSW |
7 |
118,157,163 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5564:Smg1
|
UTSW |
7 |
118,189,819 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5580:Smg1
|
UTSW |
7 |
118,148,902 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5600:Smg1
|
UTSW |
7 |
118,167,884 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5628:Smg1
|
UTSW |
7 |
118,154,701 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5646:Smg1
|
UTSW |
7 |
118,212,559 (GRCm38) |
missense |
probably benign |
0.42 |
|
R5656:Smg1
|
UTSW |
7 |
118,154,664 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5660:Smg1
|
UTSW |
7 |
118,143,347 (GRCm38) |
missense |
probably benign |
0.33 |
|
R5706:Smg1
|
UTSW |
7 |
118,145,590 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5786:Smg1
|
UTSW |
7 |
118,212,897 (GRCm38) |
missense |
probably benign |
0.12 |
|
R5890:Smg1
|
UTSW |
7 |
118,190,586 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5912:Smg1
|
UTSW |
7 |
118,154,586 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5977:Smg1
|
UTSW |
7 |
118,141,357 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R5993:Smg1
|
UTSW |
7 |
118,140,509 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6161:Smg1
|
UTSW |
7 |
118,163,330 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6187:Smg1
|
UTSW |
7 |
118,189,163 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6264:Smg1
|
UTSW |
7 |
118,166,087 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6331:Smg1
|
UTSW |
7 |
118,154,277 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6561:Smg1
|
UTSW |
7 |
118,166,077 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6571:Smg1
|
UTSW |
7 |
118,184,514 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6736:Smg1
|
UTSW |
7 |
118,157,166 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6752:Smg1
|
UTSW |
7 |
118,163,316 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6777:Smg1
|
UTSW |
7 |
118,189,117 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6788:Smg1
|
UTSW |
7 |
118,184,571 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6883:Smg1
|
UTSW |
7 |
118,168,180 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R6991:Smg1
|
UTSW |
7 |
118,167,868 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R7056:Smg1
|
UTSW |
7 |
118,146,400 (GRCm38) |
splice site |
probably benign |
|
|
R7058:Smg1
|
UTSW |
7 |
118,198,279 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R7100:Smg1
|
UTSW |
7 |
118,184,520 (GRCm38) |
missense |
unknown |
|
|
R7133:Smg1
|
UTSW |
7 |
118,152,908 (GRCm38) |
missense |
unknown |
|
|
R7221:Smg1
|
UTSW |
7 |
118,182,797 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7229:Smg1
|
UTSW |
7 |
118,176,955 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7293:Smg1
|
UTSW |
7 |
118,166,099 (GRCm38) |
missense |
unknown |
|
|
R7361:Smg1
|
UTSW |
7 |
118,184,977 (GRCm38) |
missense |
unknown |
|
|
R7438:Smg1
|
UTSW |
7 |
118,195,893 (GRCm38) |
missense |
unknown |
|
|
R7686:Smg1
|
UTSW |
7 |
118,167,858 (GRCm38) |
missense |
unknown |
|
|
R7798:Smg1
|
UTSW |
7 |
118,171,939 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7908:Smg1
|
UTSW |
7 |
118,186,134 (GRCm38) |
missense |
unknown |
|
|
R7923:Smg1
|
UTSW |
7 |
118,143,322 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7978:Smg1
|
UTSW |
7 |
118,193,655 (GRCm38) |
missense |
unknown |
|
|
R7997:Smg1
|
UTSW |
7 |
118,173,142 (GRCm38) |
missense |
unknown |
|
|
R7997:Smg1
|
UTSW |
7 |
118,173,141 (GRCm38) |
missense |
unknown |
|
|
R8025:Smg1
|
UTSW |
7 |
118,206,989 (GRCm38) |
nonsense |
probably null |
|
|
R8056:Smg1
|
UTSW |
7 |
118,160,366 (GRCm38) |
missense |
unknown |
|
|
R8061:Smg1
|
UTSW |
7 |
118,152,387 (GRCm38) |
missense |
unknown |
|
|
R8095:Smg1
|
UTSW |
7 |
118,173,062 (GRCm38) |
missense |
unknown |
|
|
R8198:Smg1
|
UTSW |
7 |
118,145,606 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8399:Smg1
|
UTSW |
7 |
118,190,571 (GRCm38) |
missense |
unknown |
|
|
R8445:Smg1
|
UTSW |
7 |
118,136,977 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R8519:Smg1
|
UTSW |
7 |
118,171,759 (GRCm38) |
utr 3 prime |
probably benign |
|
|
R8817:Smg1
|
UTSW |
7 |
118,159,664 (GRCm38) |
missense |
unknown |
|
|
R8832:Smg1
|
UTSW |
7 |
118,139,783 (GRCm38) |
missense |
probably benign |
0.33 |
|
R8855:Smg1
|
UTSW |
7 |
118,206,899 (GRCm38) |
missense |
unknown |
|
|
R8866:Smg1
|
UTSW |
7 |
118,206,899 (GRCm38) |
missense |
unknown |
|
|
R8946:Smg1
|
UTSW |
7 |
118,152,677 (GRCm38) |
missense |
probably null |
|
|
R8954:Smg1
|
UTSW |
7 |
118,206,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8967:Smg1
|
UTSW |
7 |
118,166,516 (GRCm38) |
missense |
unknown |
|
|
R9072:Smg1
|
UTSW |
7 |
118,183,809 (GRCm38) |
missense |
unknown |
|
|
R9090:Smg1
|
UTSW |
7 |
118,212,563 (GRCm38) |
missense |
unknown |
|
|
R9156:Smg1
|
UTSW |
7 |
118,154,661 (GRCm38) |
missense |
unknown |
|
|
R9198:Smg1
|
UTSW |
7 |
118,195,956 (GRCm38) |
missense |
unknown |
|
|
R9240:Smg1
|
UTSW |
7 |
118,139,808 (GRCm38) |
missense |
probably benign |
0.18 |
|
R9271:Smg1
|
UTSW |
7 |
118,212,563 (GRCm38) |
missense |
unknown |
|
|
R9289:Smg1
|
UTSW |
7 |
118,145,416 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9378:Smg1
|
UTSW |
7 |
118,178,775 (GRCm38) |
nonsense |
probably null |
|
|
R9396:Smg1
|
UTSW |
7 |
118,208,080 (GRCm38) |
missense |
unknown |
|
|
R9469:Smg1
|
UTSW |
7 |
118,140,551 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9539:Smg1
|
UTSW |
7 |
118,145,753 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9549:Smg1
|
UTSW |
7 |
118,196,031 (GRCm38) |
missense |
unknown |
|
|
R9564:Smg1
|
UTSW |
7 |
118,212,985 (GRCm38) |
missense |
unknown |
|
|
R9597:Smg1
|
UTSW |
7 |
118,213,047 (GRCm38) |
missense |
unknown |
|
|
R9643:Smg1
|
UTSW |
7 |
118,156,710 (GRCm38) |
missense |
unknown |
|
|
R9703:Smg1
|
UTSW |
7 |
118,140,521 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R9730:Smg1
|
UTSW |
7 |
118,183,781 (GRCm38) |
missense |
unknown |
|
|
Z1088:Smg1
|
UTSW |
7 |
118,178,399 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
Z1088:Smg1
|
UTSW |
7 |
118,168,661 (GRCm38) |
nonsense |
probably null |
|
|
Z1088:Smg1
|
UTSW |
7 |
118,154,635 (GRCm38) |
utr 3 prime |
probably benign |
|
|
Z1176:Smg1
|
UTSW |
7 |
118,206,907 (GRCm38) |
missense |
unknown |
|
|
Z1176:Smg1
|
UTSW |
7 |
118,206,887 (GRCm38) |
missense |
unknown |
|
|
Z1177:Smg1
|
UTSW |
7 |
118,213,033 (GRCm38) |
missense |
unknown |
|
|
Z1177:Smg1
|
UTSW |
7 |
118,168,608 (GRCm38) |
missense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGATGTTACCTGGAAGGAGG -3'
(R):5'- GTCTCTTTGCTGAAAGGCTTAC -3'
Sequencing Primer
(F):5'- TATGTCAGCATGGCCTCT -3'
(R):5'- CTCTTTGCTGAAAGGCTTACTAGAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation