Incidental Mutation 'R1473:Smchd1'
| ID |
165965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
MommeD1, 4931400A14Rik |
| MMRRC Submission |
039526-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R1473 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 71668832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127430
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
| 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: ENSMUST00000147111
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191623
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
98% (88/90) |
| 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 |
|---|
| Ablim1 |
T |
C |
19: 57,056,668 (GRCm39) |
D342G |
probably damaging |
Het |
| Acad8 |
T |
C |
9: 26,890,337 (GRCm39) |
T293A |
probably benign |
Het |
| Adamts13 |
C |
A |
2: 26,871,765 (GRCm39) |
Y310* |
probably null |
Het |
| Adcy6 |
T |
A |
15: 98,490,624 (GRCm39) |
Y1102F |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,603,673 (GRCm39) |
T791M |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,626,844 (GRCm39) |
V18A |
probably damaging |
Het |
| Ahcyl |
T |
A |
16: 45,975,182 (GRCm39) |
E65V |
probably damaging |
Het |
| Ampd3 |
T |
G |
7: 110,404,142 (GRCm39) |
S564R |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,459,617 (GRCm39) |
I1814K |
possibly damaging |
Het |
| Arl4c |
A |
T |
1: 88,629,331 (GRCm39) |
L19Q |
probably damaging |
Het |
| Atp6v0e2 |
T |
C |
6: 48,516,198 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,502,415 (GRCm39) |
T430A |
probably benign |
Het |
| Ccdc24 |
G |
T |
4: 117,727,101 (GRCm39) |
|
probably benign |
Het |
| Ceacam23 |
A |
G |
7: 17,639,016 (GRCm39) |
|
noncoding transcript |
Het |
| Clcn6 |
A |
C |
4: 148,108,613 (GRCm39) |
F139V |
possibly damaging |
Het |
| Col2a1 |
A |
G |
15: 97,880,789 (GRCm39) |
|
probably benign |
Het |
| Crip2 |
T |
A |
12: 113,107,120 (GRCm39) |
C29S |
probably damaging |
Het |
| Cyp2a4 |
A |
C |
7: 26,014,188 (GRCm39) |
N455T |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,400,805 (GRCm39) |
Y323H |
probably damaging |
Het |
| Dhcr7 |
A |
G |
7: 143,395,105 (GRCm39) |
D113G |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,535,173 (GRCm39) |
S2696A |
probably benign |
Het |
| Dnajc12 |
A |
G |
10: 63,233,023 (GRCm39) |
T55A |
probably benign |
Het |
| Drosha |
G |
A |
15: 12,912,606 (GRCm39) |
E1075K |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,117,602 (GRCm39) |
S911P |
possibly damaging |
Het |
| Ephb2 |
G |
A |
4: 136,421,369 (GRCm39) |
A327V |
possibly damaging |
Het |
| Espl1 |
C |
T |
15: 102,228,878 (GRCm39) |
T1711I |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,748,219 (GRCm39) |
K22R |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,894,358 (GRCm39) |
F175L |
probably damaging |
Het |
| Gm6526 |
A |
G |
14: 43,986,303 (GRCm39) |
I76M |
probably damaging |
Het |
| Gm9881 |
A |
T |
16: 90,967,623 (GRCm39) |
F34I |
unknown |
Het |
| Gm9892 |
T |
C |
8: 52,649,649 (GRCm39) |
D148G |
possibly damaging |
Het |
| Grb10 |
C |
T |
11: 11,884,249 (GRCm39) |
V486I |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| H2bc18 |
G |
T |
3: 96,177,388 (GRCm39) |
L107F |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,957,690 (GRCm39) |
H108R |
possibly damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,648,303 (GRCm39) |
T661I |
probably benign |
Het |
| Icam1 |
T |
A |
9: 20,939,172 (GRCm39) |
I515N |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,220 (GRCm39) |
R497G |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,188 (GRCm39) |
V2495E |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,383,759 (GRCm39) |
M1102V |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,874,873 (GRCm39) |
N410I |
probably benign |
Het |
| Jup |
T |
C |
11: 100,270,427 (GRCm39) |
H360R |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,951,896 (GRCm39) |
S1685T |
possibly damaging |
Het |
| Lins1 |
T |
C |
7: 66,361,794 (GRCm39) |
|
probably null |
Het |
| Lrig1 |
T |
A |
6: 94,584,294 (GRCm39) |
T917S |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,169,152 (GRCm39) |
S814P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,909,027 (GRCm39) |
T483A |
probably damaging |
Het |
| Mcpt1 |
T |
C |
14: 56,256,990 (GRCm39) |
M176T |
probably benign |
Het |
| Mettl22 |
A |
G |
16: 8,291,825 (GRCm39) |
Q38R |
probably damaging |
Het |
| Mrm2 |
T |
C |
5: 140,314,443 (GRCm39) |
T131A |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,862,368 (GRCm39) |
Y1520* |
probably null |
Het |
| Nde1 |
T |
G |
16: 14,003,728 (GRCm39) |
F71V |
probably benign |
Het |
| Nxn |
C |
T |
11: 76,154,013 (GRCm39) |
G274D |
possibly damaging |
Het |
| Or4c123 |
A |
T |
2: 89,127,250 (GRCm39) |
Y121* |
probably null |
Het |
| Or5h17 |
A |
T |
16: 58,820,275 (GRCm39) |
T76S |
probably benign |
Het |
| Or6k14 |
G |
T |
1: 173,927,315 (GRCm39) |
C97F |
probably damaging |
Het |
| Or6p1 |
T |
A |
1: 174,258,209 (GRCm39) |
W72R |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,667,175 (GRCm39) |
|
probably null |
Het |
| Otud7a |
C |
A |
7: 63,404,377 (GRCm39) |
|
probably benign |
Het |
| Phf3 |
G |
A |
1: 30,845,021 (GRCm39) |
L1313F |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,593,207 (GRCm39) |
D1635E |
probably benign |
Het |
| Plpp1 |
A |
G |
13: 112,996,198 (GRCm39) |
H171R |
probably damaging |
Het |
| Pofut1 |
A |
G |
2: 153,103,166 (GRCm39) |
M172V |
probably damaging |
Het |
| Prmt5 |
A |
G |
14: 54,746,372 (GRCm39) |
F580L |
probably damaging |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,296 (GRCm39) |
L987Q |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,639,028 (GRCm39) |
C76* |
probably null |
Het |
| Rnf38 |
T |
C |
4: 44,131,584 (GRCm39) |
N399S |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 125,891,424 (GRCm39) |
E286G |
possibly damaging |
Het |
| Scin |
T |
A |
12: 40,127,501 (GRCm39) |
T430S |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,411,123 (GRCm39) |
T868S |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,387,885 (GRCm39) |
R37H |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stk32c |
C |
T |
7: 138,705,095 (GRCm39) |
R23Q |
probably damaging |
Het |
| Sult1d1 |
A |
G |
5: 87,712,598 (GRCm39) |
M82T |
probably benign |
Het |
| Tat |
T |
C |
8: 110,723,550 (GRCm39) |
L346P |
probably damaging |
Het |
| Tenm3 |
C |
A |
8: 48,763,660 (GRCm39) |
G789V |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,338,621 (GRCm39) |
S1203N |
probably benign |
Het |
| Tmem191 |
G |
A |
16: 17,095,826 (GRCm39) |
|
probably null |
Het |
| Tmem268 |
A |
G |
4: 63,498,575 (GRCm39) |
T239A |
probably damaging |
Het |
| Tmem82 |
A |
C |
4: 141,343,589 (GRCm39) |
L227R |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,557,376 (GRCm39) |
I29906N |
probably damaging |
Het |
| Txndc15 |
T |
C |
13: 55,869,387 (GRCm39) |
|
probably benign |
Het |
| Ubqln4 |
A |
G |
3: 88,473,152 (GRCm39) |
I536V |
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,914,843 (GRCm39) |
I803F |
probably benign |
Het |
| Vmn2r6 |
G |
T |
3: 64,445,579 (GRCm39) |
Y715* |
probably null |
Het |
| Vmn2r74 |
A |
T |
7: 85,610,618 (GRCm39) |
C25S |
probably damaging |
Het |
| Wdr38 |
A |
G |
2: 38,890,991 (GRCm39) |
T261A |
probably benign |
Het |
| Zfp653 |
T |
C |
9: 21,969,516 (GRCm39) |
E250G |
possibly 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 |
|
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 |
|
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'- TGGTCACAATCATTCCTGCTTCACG -3'
(R):5'- AAGAGCTTAGGAAGGCCCTTGCAC -3'
Sequencing Primer
(F):5'- TGATCTGGTAGCACAAATCTCC -3'
(R):5'- CATAAGAAGCCTTTCTGTCTTTGG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation