Incidental Mutation 'R1936:Smchd1'
| ID |
215852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
MommeD1, 4931400A14Rik |
| MMRRC Submission |
039954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R1936 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71770786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 132
(Y132C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
[ENSMUST00000183937]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127430
AA Change: Y132C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: Y132C
| 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: ENSMUST00000171504
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183937
|
| SMART Domains |
Protein: ENSMUSP00000139241
Gene: ENSMUSG00000091831
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2746 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.5%
|
| Validation Efficiency |
99% (98/99) |
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,894,061 (GRCm39) |
Q226R |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,243,595 (GRCm39) |
M1819I |
probably benign |
Het |
| Abca4 |
G |
A |
3: 121,846,572 (GRCm39) |
V30M |
probably benign |
Het |
| Ablim1 |
T |
A |
19: 57,204,397 (GRCm39) |
|
probably null |
Het |
| Adgrf3 |
A |
T |
5: 30,407,304 (GRCm39) |
N207K |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 52,997,010 (GRCm39) |
D94E |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,705,523 (GRCm39) |
N918S |
probably benign |
Het |
| Arhgap45 |
A |
G |
10: 79,866,788 (GRCm39) |
N1097S |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| AU016765 |
G |
A |
17: 64,826,873 (GRCm39) |
|
noncoding transcript |
Het |
| Brd10 |
A |
G |
19: 29,731,077 (GRCm39) |
F712S |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,386,455 (GRCm39) |
F194S |
probably damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,247,722 (GRCm39) |
D341G |
possibly damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,339 (GRCm39) |
Y175C |
probably damaging |
Het |
| Cep170b |
G |
T |
12: 112,702,172 (GRCm39) |
D322Y |
probably damaging |
Het |
| Cflar |
T |
A |
1: 58,791,784 (GRCm39) |
Y362* |
probably null |
Het |
| Chml |
A |
T |
1: 175,514,825 (GRCm39) |
C365* |
probably null |
Het |
| Clrn3 |
A |
C |
7: 135,115,753 (GRCm39) |
I199S |
possibly damaging |
Het |
| Crtam |
G |
C |
9: 40,915,846 (GRCm39) |
P13A |
probably benign |
Het |
| Defb26 |
T |
A |
2: 152,350,195 (GRCm39) |
K28N |
possibly damaging |
Het |
| Dennd1c |
G |
A |
17: 57,380,889 (GRCm39) |
|
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,768,323 (GRCm39) |
M761K |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,323,183 (GRCm39) |
M564L |
probably benign |
Het |
| Dusp15 |
A |
G |
2: 152,787,341 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,139,159 (GRCm39) |
|
probably null |
Het |
| Eapp |
A |
T |
12: 54,720,513 (GRCm39) |
M234K |
probably benign |
Het |
| Epha8 |
T |
C |
4: 136,667,554 (GRCm39) |
D309G |
probably benign |
Het |
| Gfi1b |
T |
C |
2: 28,500,125 (GRCm39) |
K302R |
possibly damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,683 (GRCm39) |
F82L |
probably damaging |
Het |
| Gm4862 |
T |
C |
3: 138,834,253 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch1 |
A |
G |
7: 34,994,947 (GRCm39) |
S440P |
probably damaging |
Het |
| Gpr152 |
A |
G |
19: 4,192,531 (GRCm39) |
D24G |
probably damaging |
Het |
| Gpr6 |
T |
C |
10: 40,947,477 (GRCm39) |
E35G |
probably benign |
Het |
| Hip1r |
T |
A |
5: 124,134,134 (GRCm39) |
M270K |
probably damaging |
Het |
| Hk3 |
C |
T |
13: 55,159,204 (GRCm39) |
V451I |
probably damaging |
Het |
| Itprid1 |
G |
T |
6: 55,874,666 (GRCm39) |
L205F |
probably damaging |
Het |
| Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
| Klf16 |
G |
A |
10: 80,412,739 (GRCm39) |
A99V |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Lvrn |
A |
T |
18: 47,011,387 (GRCm39) |
Y448F |
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,584,799 (GRCm39) |
M132V |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,237,444 (GRCm39) |
Y577H |
probably damaging |
Het |
| Med24 |
A |
T |
11: 98,609,642 (GRCm39) |
|
probably null |
Het |
| Mif |
G |
T |
10: 75,695,681 (GRCm39) |
H41N |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,908,222 (GRCm39) |
N2017S |
probably benign |
Het |
| Neurl4 |
C |
T |
11: 69,797,959 (GRCm39) |
R740C |
probably damaging |
Het |
| Nlgn1 |
G |
T |
3: 26,385,939 (GRCm39) |
|
probably benign |
Het |
| Or10ad1c |
T |
A |
15: 98,085,462 (GRCm39) |
H72L |
probably benign |
Het |
| Or2ak6 |
T |
A |
11: 58,593,172 (GRCm39) |
L215Q |
probably damaging |
Het |
| Or5t15 |
A |
G |
2: 86,681,745 (GRCm39) |
M99T |
probably benign |
Het |
| Or8b12i |
A |
G |
9: 20,082,477 (GRCm39) |
L130P |
probably damaging |
Het |
| Paip1 |
T |
A |
13: 119,593,550 (GRCm39) |
M463K |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,931 (GRCm39) |
Y147F |
probably damaging |
Het |
| Pgrmc2 |
C |
A |
3: 41,037,473 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
G |
A |
7: 24,316,832 (GRCm39) |
A278T |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,924,715 (GRCm39) |
|
probably null |
Het |
| Pphln1 |
A |
G |
15: 93,386,868 (GRCm39) |
D234G |
possibly damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,032 (GRCm39) |
S753G |
probably benign |
Het |
| Prss32 |
A |
G |
17: 24,075,024 (GRCm39) |
R125G |
possibly damaging |
Het |
| Psg22 |
A |
T |
7: 18,453,635 (GRCm39) |
N149I |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,319,570 (GRCm39) |
L20P |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,788,017 (GRCm39) |
Y434C |
probably benign |
Het |
| Rexo1 |
A |
G |
10: 80,386,303 (GRCm39) |
S252P |
probably benign |
Het |
| Sdr9c7 |
A |
G |
10: 127,739,503 (GRCm39) |
K206R |
probably benign |
Het |
| Slc17a8 |
T |
C |
10: 89,413,777 (GRCm39) |
M484V |
probably benign |
Het |
| Slc1a2 |
A |
G |
2: 102,607,950 (GRCm39) |
N530D |
probably benign |
Het |
| Slc25a14 |
G |
A |
X: 47,740,840 (GRCm39) |
V210I |
probably benign |
Het |
| Slc25a24 |
A |
T |
3: 109,043,581 (GRCm39) |
E79D |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,221,082 (GRCm39) |
D545G |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,228,731 (GRCm39) |
S104P |
possibly damaging |
Het |
| Speg |
C |
T |
1: 75,408,052 (GRCm39) |
T3249I |
possibly damaging |
Het |
| Spry4 |
A |
G |
18: 38,723,142 (GRCm39) |
I207T |
possibly damaging |
Het |
| Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
A |
G |
17: 43,937,358 (GRCm39) |
L1230P |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,599,021 (GRCm39) |
Y43C |
probably benign |
Het |
| Tex101 |
A |
G |
7: 24,367,650 (GRCm39) |
V234A |
probably benign |
Het |
| Tmem161b |
T |
A |
13: 84,441,585 (GRCm39) |
L210Q |
probably damaging |
Het |
| Tmprss11f |
T |
A |
5: 86,692,723 (GRCm39) |
Q67L |
probably benign |
Het |
| Tnfrsf23 |
A |
G |
7: 143,222,291 (GRCm39) |
F174L |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,646,849 (GRCm39) |
D1450G |
possibly damaging |
Het |
| Trdmt1 |
A |
G |
2: 13,516,420 (GRCm39) |
L386P |
probably damaging |
Het |
| Trim25 |
A |
T |
11: 88,895,576 (GRCm39) |
T206S |
probably benign |
Het |
| Trit1 |
T |
C |
4: 122,948,033 (GRCm39) |
I451T |
probably benign |
Het |
| Trpc4 |
T |
A |
3: 54,187,311 (GRCm39) |
M421K |
probably damaging |
Het |
| Ttc34 |
G |
A |
4: 154,950,139 (GRCm39) |
A1031T |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,715,834 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,522 (GRCm39) |
D24457V |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,528,468 (GRCm39) |
L147P |
probably damaging |
Het |
| Vmn2r94 |
G |
A |
17: 18,464,554 (GRCm39) |
R579* |
probably null |
Het |
| Vps72 |
T |
A |
3: 95,029,851 (GRCm39) |
V290D |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,783,236 (GRCm39) |
R221* |
probably null |
Het |
| Zfp26 |
A |
G |
9: 20,348,849 (GRCm39) |
Y572H |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,807,452 (GRCm39) |
V1864A |
probably benign |
Het |
| Zfp952 |
A |
T |
17: 33,222,643 (GRCm39) |
H374L |
possibly damaging |
Het |
| Zfy2 |
C |
A |
Y: 2,121,496 (GRCm39) |
M132I |
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 |
|
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'- GTCCCAATTTCAGTCGAATACATTC -3'
(R):5'- ACACTATCGAGGGCATTTTGTAG -3'
Sequencing Primer
(F):5'- CGTATGTGACCAAAGGAG -3'
(R):5'- AATTCATTGTATTTCTGATGCTGCTC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation