Incidental Mutation 'R4798:Smchd1'
| ID |
369275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
MommeD1, 4931400A14Rik |
| MMRRC Submission |
042422-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R4798 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 71667048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1781
(Y1781*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000127430
AA Change: Y1781*
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: Y1781*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HATPase_c_3
|
139 |
299 |
6.8e-16 |
PFAM |
|
low complexity region
|
451 |
457 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
859 |
1087 |
9.1e-5 |
PROSPERO |
|
low complexity region
|
1185 |
1196 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1205 |
1409 |
9.1e-5 |
PROSPERO |
|
coiled coil region
|
1649 |
1680 |
N/A |
INTRINSIC |
|
SMC_hinge
|
1721 |
1848 |
1.64e-15 |
SMART |
|
low complexity region
|
1940 |
1954 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182107
|
| Meta Mutation Damage Score |
0.9701 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
97% (111/114) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
PHENOTYPE: Females homozygous for an ENU-induced allele die at midgestation showing placental defects and hypomethylation at X-linked genes that are normally subject to X-inactivation, whereas homozygous males are viable. Females homozygous for a gene trap allele die before E13.5, whereas males remain healthy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,471,843 (GRCm39) |
W1083R |
possibly damaging |
Het |
| Adamts10 |
T |
A |
17: 33,747,726 (GRCm39) |
L54Q |
probably damaging |
Het |
| Ankrd24 |
A |
C |
10: 81,479,149 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,618,888 (GRCm39) |
S813P |
probably benign |
Het |
| Atp13a3 |
T |
A |
16: 30,160,058 (GRCm39) |
I716F |
probably damaging |
Het |
| Atp6v1c1 |
T |
A |
15: 38,689,420 (GRCm39) |
W294R |
probably damaging |
Het |
| Atrnl1 |
G |
T |
19: 58,030,793 (GRCm39) |
A1312S |
probably benign |
Het |
| Bcl2 |
A |
T |
1: 106,640,338 (GRCm39) |
H91Q |
possibly damaging |
Het |
| Cacna1c |
G |
A |
6: 118,607,263 (GRCm39) |
Q1214* |
probably null |
Het |
| Cacna1g |
C |
A |
11: 94,324,673 (GRCm39) |
G1183W |
probably damaging |
Het |
| Capsl |
A |
T |
15: 9,461,828 (GRCm39) |
M75L |
probably benign |
Het |
| Ccdc122 |
T |
G |
14: 77,349,047 (GRCm39) |
|
probably benign |
Het |
| Ccdc57 |
T |
G |
11: 120,772,683 (GRCm39) |
R645S |
possibly damaging |
Het |
| Cdh8 |
T |
A |
8: 99,751,558 (GRCm39) |
R720* |
probably null |
Het |
| Cenpx |
T |
G |
11: 120,602,610 (GRCm39) |
|
probably benign |
Het |
| Clic3 |
T |
C |
2: 25,348,194 (GRCm39) |
S114P |
probably damaging |
Het |
| Cracdl |
A |
T |
1: 37,664,046 (GRCm39) |
D617E |
probably benign |
Het |
| Crtac1 |
A |
T |
19: 42,312,240 (GRCm39) |
W158R |
possibly damaging |
Het |
| Dennd2b |
C |
T |
7: 109,156,240 (GRCm39) |
G170D |
probably damaging |
Het |
| Dhrs11 |
T |
A |
11: 84,719,626 (GRCm39) |
Q33L |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dpp9 |
G |
T |
17: 56,498,016 (GRCm39) |
Q647K |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,510,327 (GRCm39) |
G64D |
probably damaging |
Het |
| Eif2b4 |
C |
T |
5: 31,346,864 (GRCm39) |
|
probably benign |
Het |
| Epas1 |
A |
G |
17: 87,113,267 (GRCm39) |
N151S |
probably benign |
Het |
| Fastkd1 |
A |
T |
2: 69,521,651 (GRCm39) |
I707K |
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,246,168 (GRCm39) |
T1005A |
probably benign |
Het |
| Fgfrl1 |
T |
A |
5: 108,851,363 (GRCm39) |
Y93* |
probably null |
Het |
| Fktn |
A |
G |
4: 53,744,637 (GRCm39) |
T306A |
probably benign |
Het |
| Gabbr2 |
T |
G |
4: 46,991,139 (GRCm39) |
Y96S |
possibly damaging |
Het |
| Gm16332 |
A |
T |
1: 139,819,396 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5145 |
G |
T |
17: 20,790,810 (GRCm39) |
V63F |
probably damaging |
Het |
| Gm9970 |
G |
T |
5: 31,398,429 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,787,993 (GRCm39) |
T545A |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,426,929 (GRCm39) |
E685K |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,581,151 (GRCm39) |
I284F |
probably damaging |
Het |
| Hook1 |
C |
G |
4: 95,890,794 (GRCm39) |
A301G |
possibly damaging |
Het |
| Hpcal4 |
T |
A |
4: 123,084,491 (GRCm39) |
M140K |
possibly damaging |
Het |
| Il11ra1 |
T |
C |
4: 41,766,096 (GRCm39) |
|
probably benign |
Het |
| Ildr1 |
A |
T |
16: 36,542,917 (GRCm39) |
H439L |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,684,009 (GRCm39) |
|
probably null |
Het |
| Jag2 |
A |
T |
12: 112,880,252 (GRCm39) |
D337E |
probably benign |
Het |
| Krt82 |
C |
T |
15: 101,458,923 (GRCm39) |
R39Q |
probably benign |
Het |
| L3mbtl4 |
T |
A |
17: 68,666,475 (GRCm39) |
M1K |
probably null |
Het |
| Lrrc32 |
T |
G |
7: 98,148,224 (GRCm39) |
F335V |
probably damaging |
Het |
| Lurap1l |
T |
A |
4: 80,829,650 (GRCm39) |
V20E |
probably damaging |
Het |
| Lyar |
T |
A |
5: 38,385,230 (GRCm39) |
V90D |
possibly damaging |
Het |
| Man2c1 |
C |
T |
9: 57,048,469 (GRCm39) |
R778* |
probably null |
Het |
| Mapk6 |
A |
G |
9: 75,295,714 (GRCm39) |
F595L |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,039,150 (GRCm39) |
I281T |
probably damaging |
Het |
| Mep1b |
T |
C |
18: 21,226,311 (GRCm39) |
V391A |
probably damaging |
Het |
| Mier1 |
G |
A |
4: 102,988,195 (GRCm39) |
D40N |
probably damaging |
Het |
| Mkx |
T |
C |
18: 7,002,432 (GRCm39) |
H38R |
probably benign |
Het |
| Mroh4 |
A |
G |
15: 74,498,028 (GRCm39) |
L184P |
probably damaging |
Het |
| Muc2 |
C |
A |
7: 141,307,877 (GRCm39) |
N834K |
probably benign |
Het |
| Mycl |
A |
G |
4: 122,894,049 (GRCm39) |
D283G |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,190,750 (GRCm39) |
N975S |
probably damaging |
Het |
| Myl12a |
A |
G |
17: 71,303,297 (GRCm39) |
|
probably benign |
Het |
| Mysm1 |
T |
C |
4: 94,853,910 (GRCm39) |
T230A |
probably benign |
Het |
| Naca |
A |
G |
10: 127,883,672 (GRCm39) |
K2099R |
probably null |
Het |
| Nbeal1 |
T |
G |
1: 60,261,352 (GRCm39) |
|
probably null |
Het |
| Nedd1 |
A |
G |
10: 92,534,772 (GRCm39) |
V246A |
probably benign |
Het |
| Nid2 |
A |
G |
14: 19,839,829 (GRCm39) |
D806G |
probably benign |
Het |
| Ninl |
G |
A |
2: 150,801,801 (GRCm39) |
R156* |
probably null |
Het |
| Obscn |
T |
A |
11: 58,960,685 (GRCm39) |
I3418F |
probably damaging |
Het |
| Or8g37 |
T |
A |
9: 39,731,193 (GRCm39) |
V86E |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,684,949 (GRCm39) |
N730S |
probably damaging |
Het |
| Pcm1 |
G |
A |
8: 41,746,715 (GRCm39) |
D1305N |
probably damaging |
Het |
| Pcsk4 |
A |
T |
10: 80,158,938 (GRCm39) |
I485N |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,646,237 (GRCm39) |
R111G |
probably damaging |
Het |
| Prdm10 |
T |
C |
9: 31,252,569 (GRCm39) |
F385S |
probably damaging |
Het |
| Prkcsh |
C |
T |
9: 21,923,034 (GRCm39) |
P351L |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,369,018 (GRCm39) |
P2006L |
probably damaging |
Het |
| Rad51c |
T |
C |
11: 87,286,204 (GRCm39) |
D251G |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,470,918 (GRCm39) |
F1088L |
probably benign |
Het |
| Rere |
C |
A |
4: 150,699,624 (GRCm39) |
|
probably benign |
Het |
| Rnf167 |
T |
A |
11: 70,540,961 (GRCm39) |
C196S |
probably benign |
Het |
| Robo2 |
T |
A |
16: 74,149,633 (GRCm39) |
Y65F |
probably damaging |
Het |
| Scarf2 |
G |
A |
16: 17,621,371 (GRCm39) |
C319Y |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,743,780 (GRCm39) |
D995G |
probably damaging |
Het |
| Selenbp1 |
T |
C |
3: 94,851,211 (GRCm39) |
L369S |
probably benign |
Het |
| Sgpl1 |
A |
T |
10: 60,959,123 (GRCm39) |
I53K |
possibly damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc1a6 |
A |
T |
10: 78,635,952 (GRCm39) |
Y339F |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,779,697 (GRCm39) |
S1233G |
probably benign |
Het |
| Snap91 |
A |
T |
9: 86,665,507 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
T |
A |
16: 11,238,600 (GRCm39) |
L112Q |
probably damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,889,622 (GRCm39) |
|
probably benign |
Het |
| Srl |
A |
T |
16: 4,310,222 (GRCm39) |
H502Q |
possibly damaging |
Het |
| St8sia3 |
A |
G |
18: 64,404,820 (GRCm39) |
M366V |
probably benign |
Het |
| Stk19 |
A |
T |
17: 35,041,485 (GRCm39) |
|
probably benign |
Het |
| Syngap1 |
G |
A |
17: 27,180,423 (GRCm39) |
A611T |
probably benign |
Het |
| Tas2r113 |
A |
G |
6: 132,870,670 (GRCm39) |
T233A |
possibly damaging |
Het |
| Tbcc |
G |
A |
17: 47,202,145 (GRCm39) |
W177* |
probably null |
Het |
| Tcstv3 |
T |
A |
13: 120,779,618 (GRCm39) |
|
probably null |
Het |
| Trav13-5 |
T |
A |
14: 54,033,408 (GRCm39) |
C106S |
probably damaging |
Het |
| Trmt61a |
G |
A |
12: 111,645,147 (GRCm39) |
V28M |
possibly damaging |
Het |
| Ubap2l |
G |
A |
3: 89,928,210 (GRCm39) |
T553M |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,554,715 (GRCm39) |
N1839S |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,475,742 (GRCm39) |
L2893P |
probably damaging |
Het |
| Usp24 |
G |
A |
4: 106,217,359 (GRCm39) |
V421M |
possibly damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,892 (GRCm39) |
E198G |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,904,626 (GRCm39) |
S130A |
probably damaging |
Het |
| Zfp426 |
T |
A |
9: 20,382,310 (GRCm39) |
I211F |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,880,489 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Smchd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Smchd1
|
APN |
17 |
71,772,668 (GRCm39) |
splice site |
probably benign |
|
|
IGL00529:Smchd1
|
APN |
17 |
71,701,794 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL00642:Smchd1
|
APN |
17 |
71,697,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00821:Smchd1
|
APN |
17 |
71,705,618 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01330:Smchd1
|
APN |
17 |
71,743,783 (GRCm39) |
missense |
probably benign |
|
|
IGL01432:Smchd1
|
APN |
17 |
71,738,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01473:Smchd1
|
APN |
17 |
71,696,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01705:Smchd1
|
APN |
17 |
71,688,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01787:Smchd1
|
APN |
17 |
71,698,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01814:Smchd1
|
APN |
17 |
71,685,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01976:Smchd1
|
APN |
17 |
71,701,720 (GRCm39) |
nonsense |
probably null |
|
|
IGL01995:Smchd1
|
APN |
17 |
71,751,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02090:Smchd1
|
APN |
17 |
71,738,248 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02302:Smchd1
|
APN |
17 |
71,665,128 (GRCm39) |
splice site |
probably benign |
|
|
IGL02309:Smchd1
|
APN |
17 |
71,750,898 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02391:Smchd1
|
APN |
17 |
71,738,254 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02515:Smchd1
|
APN |
17 |
71,747,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02644:Smchd1
|
APN |
17 |
71,667,016 (GRCm39) |
splice site |
probably benign |
|
|
IGL03081:Smchd1
|
APN |
17 |
71,667,186 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03212:Smchd1
|
APN |
17 |
71,750,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03236:Smchd1
|
APN |
17 |
71,698,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03297:Smchd1
|
APN |
17 |
71,656,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
Dry_tortugas
|
UTSW |
17 |
71,747,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Smchd1
|
UTSW |
17 |
71,738,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0254:Smchd1
|
UTSW |
17 |
71,718,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0391:Smchd1
|
UTSW |
17 |
71,710,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Smchd1
|
UTSW |
17 |
71,701,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Smchd1
|
UTSW |
17 |
71,694,083 (GRCm39) |
missense |
probably benign |
|
|
R0520:Smchd1
|
UTSW |
17 |
71,736,538 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0616:Smchd1
|
UTSW |
17 |
71,686,569 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1120:Smchd1
|
UTSW |
17 |
71,665,141 (GRCm39) |
nonsense |
probably null |
|
|
R1469:Smchd1
|
UTSW |
17 |
71,656,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Smchd1
|
UTSW |
17 |
71,656,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Smchd1
|
UTSW |
17 |
71,668,832 (GRCm39) |
splice site |
probably benign |
|
|
R1484:Smchd1
|
UTSW |
17 |
71,685,252 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1501:Smchd1
|
UTSW |
17 |
71,672,089 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1718:Smchd1
|
UTSW |
17 |
71,755,828 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1765:Smchd1
|
UTSW |
17 |
71,707,196 (GRCm39) |
splice site |
probably benign |
|
|
R1766:Smchd1
|
UTSW |
17 |
71,698,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1803:Smchd1
|
UTSW |
17 |
71,694,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1829:Smchd1
|
UTSW |
17 |
71,677,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Smchd1
|
UTSW |
17 |
71,696,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Smchd1
|
UTSW |
17 |
71,714,232 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1918:Smchd1
|
UTSW |
17 |
71,714,232 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1936:Smchd1
|
UTSW |
17 |
71,770,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Smchd1
|
UTSW |
17 |
71,677,923 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2147:Smchd1
|
UTSW |
17 |
71,705,583 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2180:Smchd1
|
UTSW |
17 |
71,770,794 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2398:Smchd1
|
UTSW |
17 |
71,733,431 (GRCm39) |
splice site |
probably benign |
|
|
R2398:Smchd1
|
UTSW |
17 |
71,667,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2935:Smchd1
|
UTSW |
17 |
71,718,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3000:Smchd1
|
UTSW |
17 |
71,670,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3021:Smchd1
|
UTSW |
17 |
71,694,093 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3808:Smchd1
|
UTSW |
17 |
71,736,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4323:Smchd1
|
UTSW |
17 |
71,735,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4486:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4487:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4488:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4489:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4723:Smchd1
|
UTSW |
17 |
71,743,742 (GRCm39) |
nonsense |
probably null |
|
|
R4751:Smchd1
|
UTSW |
17 |
71,698,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4814:Smchd1
|
UTSW |
17 |
71,718,763 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4882:Smchd1
|
UTSW |
17 |
71,665,234 (GRCm39) |
intron |
probably benign |
|
|
R5088:Smchd1
|
UTSW |
17 |
71,738,343 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5589:Smchd1
|
UTSW |
17 |
71,747,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Smchd1
|
UTSW |
17 |
71,762,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Smchd1
|
UTSW |
17 |
71,701,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5994:Smchd1
|
UTSW |
17 |
71,672,404 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6009:Smchd1
|
UTSW |
17 |
71,747,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6042:Smchd1
|
UTSW |
17 |
71,684,052 (GRCm39) |
nonsense |
probably null |
|
|
R6082:Smchd1
|
UTSW |
17 |
71,656,714 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6126:Smchd1
|
UTSW |
17 |
71,677,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Smchd1
|
UTSW |
17 |
71,677,922 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6788:Smchd1
|
UTSW |
17 |
71,782,096 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6853:Smchd1
|
UTSW |
17 |
71,743,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Smchd1
|
UTSW |
17 |
71,660,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Smchd1
|
UTSW |
17 |
71,656,662 (GRCm39) |
missense |
probably benign |
|
|
R7045:Smchd1
|
UTSW |
17 |
71,722,039 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7068:Smchd1
|
UTSW |
17 |
71,694,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7085:Smchd1
|
UTSW |
17 |
71,672,214 (GRCm39) |
splice site |
probably null |
|
|
R7089:Smchd1
|
UTSW |
17 |
71,668,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Smchd1
|
UTSW |
17 |
71,685,202 (GRCm39) |
missense |
probably benign |
|
|
R7158:Smchd1
|
UTSW |
17 |
71,707,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7180:Smchd1
|
UTSW |
17 |
71,701,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7183:Smchd1
|
UTSW |
17 |
71,660,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Smchd1
|
UTSW |
17 |
71,652,359 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7414:Smchd1
|
UTSW |
17 |
71,782,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7512:Smchd1
|
UTSW |
17 |
71,688,364 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7631:Smchd1
|
UTSW |
17 |
71,705,684 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7641:Smchd1
|
UTSW |
17 |
71,697,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7709:Smchd1
|
UTSW |
17 |
71,665,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Smchd1
|
UTSW |
17 |
71,718,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Smchd1
|
UTSW |
17 |
71,782,296 (GRCm39) |
start gained |
probably benign |
|
|
R7898:Smchd1
|
UTSW |
17 |
71,684,813 (GRCm39) |
splice site |
probably null |
|
|
R7965:Smchd1
|
UTSW |
17 |
71,762,621 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8177:Smchd1
|
UTSW |
17 |
71,697,448 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8359:Smchd1
|
UTSW |
17 |
71,738,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8370:Smchd1
|
UTSW |
17 |
71,701,908 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8426:Smchd1
|
UTSW |
17 |
71,755,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Smchd1
|
UTSW |
17 |
71,714,244 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8948:Smchd1
|
UTSW |
17 |
71,743,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Smchd1
|
UTSW |
17 |
71,755,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Smchd1
|
UTSW |
17 |
71,701,710 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9054:Smchd1
|
UTSW |
17 |
71,670,017 (GRCm39) |
nonsense |
probably null |
|
|
R9141:Smchd1
|
UTSW |
17 |
71,672,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9169:Smchd1
|
UTSW |
17 |
71,722,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Smchd1
|
UTSW |
17 |
71,672,084 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9368:Smchd1
|
UTSW |
17 |
71,694,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9374:Smchd1
|
UTSW |
17 |
71,718,843 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9416:Smchd1
|
UTSW |
17 |
71,701,791 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9426:Smchd1
|
UTSW |
17 |
71,672,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9491:Smchd1
|
UTSW |
17 |
71,667,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9511:Smchd1
|
UTSW |
17 |
71,750,899 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9591:Smchd1
|
UTSW |
17 |
71,701,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9593:Smchd1
|
UTSW |
17 |
71,701,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Smchd1
|
UTSW |
17 |
71,668,836 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGTAGGTGATGGCCTGTAATAG -3'
(R):5'- GGCTTTAGATTGCACATCTAGCAC -3'
Sequencing Primer
(F):5'- CCTGTAATAGGTATGACTTAGGATGG -3'
(R):5'- CAAATTGAAGATGATCGAGCTGCC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation