Incidental Mutation 'R8954:Smchd1'
| ID |
681882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
MommeD1, 4931400A14Rik |
| MMRRC Submission |
068790-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R8954 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71755752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 243
(V243D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127430
AA Change: V243D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: V243D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 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 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
T |
A |
2: 93,688,299 (GRCm39) |
Y445F |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,594,583 (GRCm39) |
D815G |
probably damaging |
Het |
| Adam4 |
T |
C |
12: 81,467,146 (GRCm39) |
S492G |
possibly damaging |
Het |
| Anapc2 |
A |
G |
2: 25,170,490 (GRCm39) |
K643E |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,641,317 (GRCm39) |
I630K |
possibly damaging |
Het |
| Arhgap24 |
A |
G |
5: 103,040,136 (GRCm39) |
T361A |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,066,141 (GRCm39) |
M1571V |
probably benign |
Het |
| Arid5b |
A |
C |
10: 67,937,810 (GRCm39) |
V196G |
possibly damaging |
Het |
| Art2b |
C |
A |
7: 101,229,110 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
A |
18: 22,650,807 (GRCm39) |
R932H |
probably damaging |
Het |
| B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,696,126 (GRCm39) |
N1122K |
possibly damaging |
Het |
| C5ar2 |
C |
A |
7: 15,971,733 (GRCm39) |
V65F |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,879,255 (GRCm39) |
L403Q |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Chac1 |
C |
T |
2: 119,183,836 (GRCm39) |
A146V |
probably damaging |
Het |
| Cpne2 |
T |
A |
8: 95,284,774 (GRCm39) |
S317T |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,402,203 (GRCm39) |
K138* |
probably null |
Het |
| Cwc22 |
T |
A |
2: 77,754,937 (GRCm39) |
Y214F |
probably damaging |
Het |
| Cyp2c39 |
A |
T |
19: 39,525,197 (GRCm39) |
T167S |
probably benign |
Het |
| Cyp4a12a |
T |
A |
4: 115,185,935 (GRCm39) |
Y414* |
probably null |
Het |
| Dap3 |
A |
T |
3: 88,835,570 (GRCm39) |
D256E |
probably damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,381,156 (GRCm39) |
S110N |
probably benign |
Het |
| Dnhd1 |
A |
T |
7: 105,343,986 (GRCm39) |
I1777L |
probably benign |
Het |
| Ecel1 |
G |
A |
1: 87,076,349 (GRCm39) |
Q717* |
probably null |
Het |
| Efcab3 |
T |
G |
11: 104,909,525 (GRCm39) |
|
probably null |
Het |
| Eif3j2 |
G |
A |
18: 43,610,699 (GRCm39) |
T38M |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 16,287,864 (GRCm39) |
H553R |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,913,985 (GRCm39) |
D204G |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,284,702 (GRCm39) |
E1174D |
probably benign |
Het |
| Gabra6 |
T |
A |
11: 42,205,959 (GRCm39) |
Y299F |
probably damaging |
Het |
| Gak |
G |
A |
5: 108,777,518 (GRCm39) |
|
probably benign |
Het |
| Gapdhs |
T |
A |
7: 30,432,591 (GRCm39) |
H214L |
probably damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,568,110 (GRCm39) |
Y1418C |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,059,562 (GRCm39) |
D471E |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,914,527 (GRCm39) |
M419T |
probably damaging |
Het |
| H2ac25 |
T |
A |
11: 58,845,785 (GRCm39) |
N74K |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,758,697 (GRCm39) |
N215S |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifitm10 |
T |
C |
7: 141,882,300 (GRCm39) |
N157D |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,676,545 (GRCm39) |
D911G |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,784,338 (GRCm39) |
N247S |
probably benign |
Het |
| Kirrel1 |
T |
C |
3: 86,997,173 (GRCm39) |
T265A |
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,187,542 (GRCm39) |
L274H |
possibly damaging |
Het |
| Kmt2b |
T |
G |
7: 30,273,640 (GRCm39) |
T2326P |
probably damaging |
Het |
| Lcn11 |
A |
G |
2: 25,669,265 (GRCm39) |
S141G |
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,277,301 (GRCm39) |
R358G |
probably null |
Het |
| Ldlr |
G |
A |
9: 21,650,828 (GRCm39) |
D446N |
possibly damaging |
Het |
| Lipt2 |
T |
C |
7: 99,809,449 (GRCm39) |
F179L |
probably damaging |
Het |
| Lmbrd1 |
G |
T |
1: 24,745,121 (GRCm39) |
V154F |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 15,556,178 (GRCm39) |
I99V |
|
Het |
| Map1b |
T |
A |
13: 99,570,735 (GRCm39) |
E662V |
unknown |
Het |
| Mfsd11 |
T |
C |
11: 116,750,162 (GRCm39) |
S100P |
probably damaging |
Het |
| Mgst1 |
C |
T |
6: 138,119,967 (GRCm39) |
|
probably benign |
Het |
| Mtf1 |
T |
A |
4: 124,698,649 (GRCm39) |
V49D |
probably damaging |
Het |
| Mtss1 |
T |
C |
15: 58,826,986 (GRCm39) |
D236G |
probably damaging |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,143,806 (GRCm39) |
F1089I |
possibly damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,897,615 (GRCm39) |
I835K |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,163,394 (GRCm39) |
S595T |
probably damaging |
Het |
| Nt5c2 |
A |
T |
19: 46,877,361 (GRCm39) |
S527T |
probably damaging |
Het |
| Or52m1 |
T |
C |
7: 102,289,882 (GRCm39) |
V143A |
probably benign |
Het |
| Or56b2 |
T |
A |
7: 104,337,900 (GRCm39) |
L226* |
probably null |
Het |
| Or5k3 |
T |
A |
16: 58,969,319 (GRCm39) |
Y35* |
probably null |
Het |
| Or7e175 |
A |
T |
9: 20,048,664 (GRCm39) |
D84V |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,285,892 (GRCm39) |
C241F |
probably damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,108,053 (GRCm39) |
S350G |
probably benign |
Het |
| Otoa |
G |
A |
7: 120,744,741 (GRCm39) |
W833* |
probably null |
Het |
| Pcdhga6 |
T |
G |
18: 37,841,540 (GRCm39) |
I420S |
probably damaging |
Het |
| Pmfbp1 |
A |
C |
8: 110,258,433 (GRCm39) |
M666L |
probably benign |
Het |
| Pola2 |
T |
G |
19: 5,998,452 (GRCm39) |
D370A |
probably damaging |
Het |
| Ppip5k1 |
C |
G |
2: 121,153,701 (GRCm39) |
|
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,762,200 (GRCm39) |
D815E |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,155,669 (GRCm39) |
V545E |
possibly damaging |
Het |
| Ptpn23 |
A |
T |
9: 110,221,568 (GRCm39) |
N177K |
probably damaging |
Het |
| Rad9b |
A |
T |
5: 122,482,293 (GRCm39) |
S147R |
probably benign |
Het |
| Rps20 |
T |
A |
4: 3,834,617 (GRCm39) |
M82L |
probably benign |
Het |
| Samd9l |
C |
T |
6: 3,374,577 (GRCm39) |
V895I |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 110,038,118 (GRCm39) |
K396* |
probably null |
Het |
| Sbno2 |
G |
T |
10: 79,893,796 (GRCm39) |
Q1198K |
probably damaging |
Het |
| Scp2d1 |
C |
T |
2: 144,665,886 (GRCm39) |
T75I |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,433,431 (GRCm39) |
I1392N |
possibly damaging |
Het |
| Sidt1 |
A |
G |
16: 44,082,390 (GRCm39) |
F532L |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,806,215 (GRCm39) |
R185G |
probably damaging |
Het |
| Spag16 |
C |
T |
1: 70,036,004 (GRCm39) |
S344F |
|
Het |
| Spata31f3 |
G |
T |
4: 42,871,753 (GRCm39) |
D207E |
probably damaging |
Het |
| Spsb3 |
A |
G |
17: 25,110,493 (GRCm39) |
D440G |
probably damaging |
Het |
| Themis |
A |
C |
10: 28,665,709 (GRCm39) |
S591R |
probably benign |
Het |
| Trpm1 |
G |
A |
7: 63,858,089 (GRCm39) |
V177I |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,514,143 (GRCm39) |
|
probably null |
Het |
| Vmn1r171 |
C |
T |
7: 23,332,525 (GRCm39) |
T238I |
probably damaging |
Het |
| Vmn2r33 |
T |
C |
7: 7,554,655 (GRCm39) |
M633V |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,546,252 (GRCm39) |
L708H |
probably damaging |
Het |
| Vps35l |
A |
T |
7: 118,393,801 (GRCm39) |
T450S |
possibly damaging |
Het |
| Wdr53 |
T |
A |
16: 32,075,473 (GRCm39) |
V226E |
probably damaging |
Het |
| Wdr62 |
T |
A |
7: 29,953,454 (GRCm39) |
I193F |
probably damaging |
Het |
| Zfp607b |
T |
A |
7: 27,403,387 (GRCm39) |
D614E |
probably benign |
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 |
|
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 |
|
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'- TCATGTGGCCAAAGGAATAAGTGTG -3'
(R):5'- TGCTGCCCTCAAAGTCAGAC -3'
Sequencing Primer
(F):5'- ATCTTCTTTAGAAAGCACCAGCTC -3'
(R):5'- GCCCTCAAAGTCAGACTCCTTC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation