Incidental Mutation 'R0616:Smchd1'
| ID |
58365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
MommeD1, 4931400A14Rik |
| MMRRC Submission |
038805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R0616 (G1)
|
| Quality Score |
197 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 71686569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1379
(D1379V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127430
AA Change: D1379V
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: D1379V
| 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: ENSMUST00000180743
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.1%
|
| 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 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,341,830 (GRCm39) |
Q1044K |
probably damaging |
Het |
| Abi3bp |
A |
T |
16: 56,474,433 (GRCm39) |
T723S |
probably damaging |
Het |
| Ackr3 |
G |
A |
1: 90,142,191 (GRCm39) |
V217I |
probably benign |
Het |
| Acnat2 |
A |
G |
4: 49,380,269 (GRCm39) |
S370P |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,050,857 (GRCm39) |
R1152G |
possibly damaging |
Het |
| Arhgap15 |
G |
A |
2: 44,006,729 (GRCm39) |
|
probably null |
Het |
| Arhgap5 |
C |
T |
12: 52,563,848 (GRCm39) |
T273I |
possibly damaging |
Het |
| Armh4 |
G |
T |
14: 50,011,113 (GRCm39) |
T198K |
possibly damaging |
Het |
| C1s2 |
T |
C |
6: 124,605,723 (GRCm39) |
E332G |
probably damaging |
Het |
| Camp |
G |
A |
9: 109,677,707 (GRCm39) |
R88W |
probably benign |
Het |
| Cdkl2 |
A |
G |
5: 92,156,863 (GRCm39) |
M564T |
probably benign |
Het |
| Ceacam20 |
A |
G |
7: 19,704,321 (GRCm39) |
H124R |
probably benign |
Het |
| Cep19 |
C |
T |
16: 31,922,829 (GRCm39) |
R32C |
probably damaging |
Het |
| Cep295 |
G |
A |
9: 15,243,618 (GRCm39) |
Q1565* |
probably null |
Het |
| Chd3 |
T |
C |
11: 69,236,313 (GRCm39) |
E1932G |
probably damaging |
Het |
| Cibar1 |
G |
A |
4: 12,168,234 (GRCm39) |
R210* |
probably null |
Het |
| Cnr2 |
G |
T |
4: 135,644,873 (GRCm39) |
W317L |
probably benign |
Het |
| Cntnap5a |
C |
T |
1: 116,508,279 (GRCm39) |
H1264Y |
possibly damaging |
Het |
| Depdc7 |
T |
A |
2: 104,557,650 (GRCm39) |
N200I |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,754,414 (GRCm39) |
S468P |
probably benign |
Het |
| Dscc1 |
C |
A |
15: 54,946,966 (GRCm39) |
C253F |
probably benign |
Het |
| Fam217a |
C |
A |
13: 35,097,666 (GRCm39) |
S55I |
probably benign |
Het |
| Farp1 |
G |
A |
14: 121,514,434 (GRCm39) |
R921H |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,997,019 (GRCm39) |
D1746G |
probably damaging |
Het |
| Fbxw5 |
T |
C |
2: 25,392,517 (GRCm39) |
F100L |
probably damaging |
Het |
| Gli3 |
C |
A |
13: 15,836,991 (GRCm39) |
T458K |
possibly damaging |
Het |
| Gm4841 |
T |
C |
18: 60,404,009 (GRCm39) |
Y28C |
probably benign |
Het |
| Gprc5d |
T |
C |
6: 135,093,430 (GRCm39) |
E159G |
probably benign |
Het |
| Grm4 |
A |
T |
17: 27,653,538 (GRCm39) |
I757N |
probably damaging |
Het |
| Hagh |
A |
G |
17: 25,076,551 (GRCm39) |
Y94C |
probably damaging |
Het |
| Hycc1 |
T |
C |
5: 24,191,770 (GRCm39) |
T44A |
probably damaging |
Het |
| Itpkb |
T |
C |
1: 180,249,301 (GRCm39) |
I892T |
probably damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,827,467 (GRCm39) |
I58V |
probably benign |
Het |
| Khdrbs2 |
A |
G |
1: 32,506,856 (GRCm39) |
I167V |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,504,250 (GRCm39) |
I275T |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,310,388 (GRCm39) |
K442R |
probably benign |
Het |
| Mak |
T |
C |
13: 41,195,661 (GRCm39) |
N382D |
probably benign |
Het |
| Maob |
G |
A |
X: 16,576,402 (GRCm39) |
T480I |
possibly damaging |
Het |
| Mcoln1 |
A |
G |
8: 3,565,025 (GRCm39) |
E573G |
probably benign |
Het |
| Ms4a6b |
G |
A |
19: 11,504,262 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
A |
G |
7: 141,349,981 (GRCm39) |
M576V |
probably benign |
Het |
| Nme8 |
T |
A |
13: 19,875,029 (GRCm39) |
D126V |
probably benign |
Het |
| Npy2r |
T |
A |
3: 82,448,670 (GRCm39) |
D35V |
possibly damaging |
Het |
| Nrxn1 |
T |
C |
17: 90,670,285 (GRCm39) |
D193G |
probably damaging |
Het |
| Or2g7 |
A |
C |
17: 38,378,131 (GRCm39) |
E23A |
probably damaging |
Het |
| Or2y1e |
T |
C |
11: 49,218,583 (GRCm39) |
L115P |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,935 (GRCm39) |
V255E |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,012,283 (GRCm39) |
F168I |
probably damaging |
Het |
| Or52b4i |
T |
A |
7: 102,191,761 (GRCm39) |
M206K |
possibly damaging |
Het |
| Or6d14 |
A |
G |
6: 116,533,889 (GRCm39) |
I168V |
probably benign |
Het |
| Or8b3b |
A |
T |
9: 38,584,776 (GRCm39) |
M1K |
probably null |
Het |
| Or8c17 |
G |
T |
9: 38,180,630 (GRCm39) |
V266L |
probably benign |
Het |
| Or8g18 |
G |
A |
9: 39,148,946 (GRCm39) |
T258M |
probably benign |
Het |
| Pabpc2 |
A |
T |
18: 39,906,792 (GRCm39) |
H19L |
possibly damaging |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,028 (GRCm39) |
K341* |
probably null |
Het |
| Pde4dip |
T |
C |
3: 97,654,849 (GRCm39) |
I859M |
probably benign |
Het |
| Pfkfb2 |
T |
C |
1: 130,634,159 (GRCm39) |
|
probably null |
Het |
| Pigg |
C |
T |
5: 108,461,951 (GRCm39) |
T94M |
probably damaging |
Het |
| Pik3c2b |
T |
C |
1: 133,028,569 (GRCm39) |
F1353L |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,336,462 (GRCm39) |
D87G |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,508,271 (GRCm39) |
D974V |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,437,076 (GRCm39) |
Y217C |
probably damaging |
Het |
| Proser1 |
A |
G |
3: 53,382,118 (GRCm39) |
T192A |
probably damaging |
Het |
| Rab3d |
G |
A |
9: 21,826,060 (GRCm39) |
T118M |
probably damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,314,486 (GRCm39) |
K386R |
possibly damaging |
Het |
| Rcn2 |
A |
G |
9: 55,963,534 (GRCm39) |
D221G |
probably benign |
Het |
| Rhbdl3 |
T |
G |
11: 80,222,687 (GRCm39) |
H245Q |
probably damaging |
Het |
| Ribc1 |
T |
C |
X: 150,788,787 (GRCm39) |
E204G |
probably damaging |
Het |
| Rpap1 |
G |
A |
2: 119,608,601 (GRCm39) |
L254F |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,880,988 (GRCm39) |
F148L |
possibly damaging |
Het |
| Rusf1 |
A |
T |
7: 127,871,803 (GRCm39) |
|
probably null |
Het |
| Setdb1 |
A |
T |
3: 95,249,109 (GRCm39) |
I333K |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,694,845 (GRCm39) |
I1210V |
probably benign |
Het |
| Snap29 |
A |
T |
16: 17,240,370 (GRCm39) |
K159* |
probably null |
Het |
| Spdye4c |
A |
T |
2: 128,436,132 (GRCm39) |
K176M |
possibly damaging |
Het |
| Stk31 |
T |
A |
6: 49,400,419 (GRCm39) |
W415R |
probably damaging |
Het |
| Supt6 |
C |
T |
11: 78,100,321 (GRCm39) |
R1497Q |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,191 (GRCm39) |
I1605T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,676,967 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,728,011 (GRCm39) |
|
probably benign |
Het |
| Ucp3 |
A |
T |
7: 100,129,368 (GRCm39) |
T68S |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,237,336 (GRCm39) |
N316D |
probably benign |
Het |
| Usp4 |
T |
G |
9: 108,244,003 (GRCm39) |
S247A |
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,606,613 (GRCm39) |
V1653D |
probably benign |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,250 (GRCm39) |
I18V |
probably benign |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,885 (GRCm39) |
M203V |
probably damaging |
Het |
| Vmn1r61 |
A |
T |
7: 5,613,998 (GRCm39) |
F105L |
possibly damaging |
Het |
| Zfp462 |
T |
C |
4: 55,011,951 (GRCm39) |
C158R |
probably damaging |
Het |
| Zfyve16 |
C |
G |
13: 92,657,637 (GRCm39) |
R758P |
probably damaging |
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 |
|
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 |
|
R4798:Smchd1
|
UTSW |
17 |
71,667,048 (GRCm39) |
nonsense |
probably null |
|
|
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'- GTGCGGTCTCATGCATTTTCTTTATCAG -3'
(R):5'- TTGTGCTCCAAGGTAAGAAGTGAAAGTT -3'
Sequencing Primer
(F):5'- TTATCAGTTAAAGGTAATGACATGCA -3'
(R):5'- ggagagatgactcagcagttaag -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation