Incidental Mutation 'R4751:Smchd1'
| ID |
357643 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
MommeD1, 4931400A14Rik |
| MMRRC Submission |
041970-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R4751 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71698463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1104
(H1104Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127430
AA Change: H1104Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: H1104Q
| 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: ENSMUST00000136071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195774
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
95% (124/131) |
| 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: 115 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
T |
7: 127,836,258 (GRCm39) |
C112S |
probably benign |
Het |
| Abca13 |
G |
A |
11: 9,227,973 (GRCm39) |
|
probably null |
Het |
| Abca14 |
A |
G |
7: 119,911,400 (GRCm39) |
E1328G |
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,021,396 (GRCm39) |
I1105F |
probably benign |
Het |
| Abr |
T |
C |
11: 76,347,434 (GRCm39) |
N396D |
possibly damaging |
Het |
| Aftph |
A |
C |
11: 20,677,074 (GRCm39) |
C178W |
probably damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,115,338 (GRCm39) |
F89S |
possibly damaging |
Het |
| Ank3 |
C |
T |
10: 69,822,036 (GRCm39) |
A1518V |
probably benign |
Het |
| Arfgap2 |
T |
G |
2: 91,097,713 (GRCm39) |
S143R |
probably benign |
Het |
| Aspdh |
T |
A |
7: 44,116,629 (GRCm39) |
C107* |
probably null |
Het |
| Asphd2 |
C |
A |
5: 112,539,612 (GRCm39) |
G74W |
probably damaging |
Het |
| AU040320 |
G |
A |
4: 126,748,259 (GRCm39) |
|
probably null |
Het |
| B3glct |
T |
A |
5: 149,648,867 (GRCm39) |
|
probably null |
Het |
| Bcl9l |
A |
G |
9: 44,418,100 (GRCm39) |
K646R |
probably damaging |
Het |
| Brat1 |
T |
G |
5: 140,704,051 (GRCm39) |
L768R |
probably damaging |
Het |
| Btbd18 |
T |
A |
2: 84,498,265 (GRCm39) |
Y634* |
probably null |
Het |
| Bub1 |
T |
A |
2: 127,665,858 (GRCm39) |
|
probably benign |
Het |
| Carns1 |
A |
T |
19: 4,216,417 (GRCm39) |
D588E |
probably damaging |
Het |
| Cast |
T |
C |
13: 74,894,166 (GRCm39) |
K141E |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
T |
C |
18: 59,308,872 (GRCm39) |
S42P |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,710,609 (GRCm39) |
F865I |
possibly damaging |
Het |
| Clec4f |
T |
A |
6: 83,622,264 (GRCm39) |
M526L |
possibly damaging |
Het |
| Clnk |
T |
C |
5: 38,878,256 (GRCm39) |
E301G |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,365,627 (GRCm39) |
I309N |
probably benign |
Het |
| Cyp2e1 |
A |
T |
7: 140,354,629 (GRCm39) |
K326* |
probably null |
Het |
| Dagla |
T |
A |
19: 10,227,758 (GRCm39) |
T717S |
probably benign |
Het |
| Dnajc11 |
G |
A |
4: 152,052,999 (GRCm39) |
R141H |
probably benign |
Het |
| Dst |
A |
G |
1: 34,230,965 (GRCm39) |
K2853E |
probably benign |
Het |
| Eif4g1 |
A |
G |
16: 20,505,265 (GRCm39) |
K1208E |
possibly damaging |
Het |
| Elane |
A |
G |
10: 79,722,625 (GRCm39) |
R48G |
probably benign |
Het |
| Fbxo30 |
T |
A |
10: 11,165,939 (GRCm39) |
N220K |
probably benign |
Het |
| Fbxo33 |
A |
T |
12: 59,247,714 (GRCm39) |
|
probably benign |
Het |
| Fetub |
G |
A |
16: 22,756,645 (GRCm39) |
V169I |
probably benign |
Het |
| Gpx6 |
A |
C |
13: 21,501,234 (GRCm39) |
Q107H |
probably damaging |
Het |
| H2bc18 |
A |
T |
3: 96,176,467 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
A |
T |
8: 70,738,084 (GRCm39) |
I19F |
probably damaging |
Het |
| Hspa4 |
C |
T |
11: 53,175,026 (GRCm39) |
V144I |
probably benign |
Het |
| Icos |
C |
T |
1: 61,032,876 (GRCm39) |
S25L |
probably benign |
Het |
| Ifna4 |
A |
G |
4: 88,760,185 (GRCm39) |
T30A |
probably benign |
Het |
| Ino80b |
C |
T |
6: 83,101,731 (GRCm39) |
G46D |
probably damaging |
Het |
| Kpna2 |
T |
G |
11: 106,883,490 (GRCm39) |
I100L |
possibly damaging |
Het |
| Krt71 |
C |
T |
15: 101,643,901 (GRCm39) |
G446R |
probably damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,402 (GRCm39) |
N78S |
possibly damaging |
Het |
| Lman1 |
A |
G |
18: 66,131,505 (GRCm39) |
S132P |
probably benign |
Het |
| Lmna |
T |
C |
3: 88,393,840 (GRCm39) |
Q246R |
possibly damaging |
Het |
| Lrp10 |
T |
A |
14: 54,706,049 (GRCm39) |
V413E |
probably damaging |
Het |
| Macf1 |
A |
C |
4: 123,365,443 (GRCm39) |
I1541S |
probably benign |
Het |
| Med24 |
A |
G |
11: 98,597,258 (GRCm39) |
L874P |
probably damaging |
Het |
| Mgll |
T |
A |
6: 88,702,093 (GRCm39) |
|
probably benign |
Het |
| Mrpl37 |
A |
T |
4: 106,914,672 (GRCm39) |
L364Q |
probably damaging |
Het |
| Mrpl47 |
C |
T |
3: 32,782,590 (GRCm39) |
R209H |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,371,338 (GRCm39) |
F3285L |
probably benign |
Het |
| Mylk |
A |
G |
16: 34,699,539 (GRCm39) |
R301G |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,555,726 (GRCm39) |
L8P |
unknown |
Het |
| Ncf1 |
T |
A |
5: 134,258,399 (GRCm39) |
H8L |
probably damaging |
Het |
| Ncoa3 |
T |
A |
2: 165,911,823 (GRCm39) |
M1383K |
possibly damaging |
Het |
| Necab2 |
C |
T |
8: 120,194,337 (GRCm39) |
S271L |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,859,808 (GRCm39) |
|
probably null |
Het |
| Nsrp1 |
T |
G |
11: 76,967,545 (GRCm39) |
T16P |
possibly damaging |
Het |
| Obox3 |
A |
T |
7: 15,359,617 (GRCm39) |
|
probably null |
Het |
| Or1l8 |
T |
C |
2: 36,817,595 (GRCm39) |
H177R |
probably damaging |
Het |
| Or4c108 |
A |
G |
2: 88,803,477 (GRCm39) |
C253R |
probably damaging |
Het |
| Or4c15 |
T |
A |
2: 88,760,258 (GRCm39) |
I134F |
probably damaging |
Het |
| Or4d6 |
T |
A |
19: 12,086,541 (GRCm39) |
Y123F |
probably damaging |
Het |
| Or52n2b |
A |
T |
7: 104,565,617 (GRCm39) |
Y295* |
probably null |
Het |
| Or6b2 |
C |
A |
1: 92,407,705 (GRCm39) |
A213S |
probably benign |
Het |
| Osbpl3 |
C |
G |
6: 50,277,977 (GRCm39) |
E790Q |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,872,333 (GRCm39) |
W254R |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,732,147 (GRCm39) |
|
probably benign |
Het |
| Pagr1a |
A |
T |
7: 126,614,551 (GRCm39) |
L218H |
probably damaging |
Het |
| Pcdha11 |
G |
A |
18: 37,139,997 (GRCm39) |
G542D |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,780,018 (GRCm39) |
I54N |
probably damaging |
Het |
| Ppif |
T |
C |
14: 25,699,923 (GRCm39) |
V173A |
probably damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,979,771 (GRCm39) |
L292H |
probably damaging |
Het |
| Ptpru |
A |
G |
4: 131,529,897 (GRCm39) |
S604P |
probably damaging |
Het |
| Qrfpr |
T |
C |
3: 36,236,771 (GRCm39) |
H210R |
possibly damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,792,171 (GRCm39) |
T41A |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,894,919 (GRCm39) |
H1113R |
probably damaging |
Het |
| Rhoc |
T |
A |
3: 104,699,963 (GRCm39) |
I80N |
probably damaging |
Het |
| Riok3 |
A |
G |
18: 12,287,040 (GRCm39) |
N472S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,336,571 (GRCm39) |
Y3314C |
probably benign |
Het |
| Shank2 |
C |
T |
7: 143,963,205 (GRCm39) |
T264I |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,387,968 (GRCm39) |
I65V |
probably benign |
Het |
| Slc22a19 |
T |
C |
19: 7,668,510 (GRCm39) |
K291R |
possibly damaging |
Het |
| Slc22a20 |
T |
C |
19: 6,030,488 (GRCm39) |
I315V |
probably benign |
Het |
| Slc44a1 |
A |
T |
4: 53,560,973 (GRCm39) |
D563V |
probably damaging |
Het |
| Spcs2 |
A |
T |
7: 99,493,976 (GRCm39) |
|
probably null |
Het |
| Speer1e |
T |
A |
5: 11,236,458 (GRCm39) |
Y138N |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,673,884 (GRCm39) |
E301G |
probably benign |
Het |
| Stum |
T |
C |
1: 180,270,234 (GRCm39) |
D86G |
probably damaging |
Het |
| Sufu |
A |
T |
19: 46,472,088 (GRCm39) |
D449V |
probably benign |
Het |
| Sun5 |
T |
C |
2: 153,707,936 (GRCm39) |
|
probably null |
Het |
| Tbc1d15 |
T |
A |
10: 115,038,492 (GRCm39) |
I574F |
probably damaging |
Het |
| Tert |
G |
A |
13: 73,776,182 (GRCm39) |
S311N |
possibly damaging |
Het |
| Tiparp |
T |
C |
3: 65,460,225 (GRCm39) |
Y507H |
probably damaging |
Het |
| Tnk2 |
T |
C |
16: 32,498,675 (GRCm39) |
C158R |
probably damaging |
Het |
| Tpgs1 |
T |
C |
10: 79,511,454 (GRCm39) |
S199P |
possibly damaging |
Het |
| Trdmt1 |
G |
T |
2: 13,549,464 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
T |
A |
2: 121,058,290 (GRCm39) |
D944V |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,569,093 (GRCm39) |
I720N |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,539,949 (GRCm39) |
T34346A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,727,925 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
T |
A |
9: 107,857,004 (GRCm39) |
C686S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,582,284 (GRCm39) |
F3782L |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,970,235 (GRCm39) |
H745Q |
possibly damaging |
Het |
| Vgf |
T |
A |
5: 137,061,255 (GRCm39) |
D472E |
probably damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,434,620 (GRCm39) |
M695V |
probably benign |
Het |
| Vps41 |
A |
T |
13: 18,995,792 (GRCm39) |
D208V |
probably damaging |
Het |
| Vta1 |
C |
T |
10: 14,531,560 (GRCm39) |
A272T |
probably benign |
Het |
| Wnk4 |
G |
A |
11: 101,167,188 (GRCm39) |
|
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,493,807 (GRCm39) |
K412R |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,934 (GRCm39) |
F65L |
possibly damaging |
Het |
| Zfp956 |
T |
C |
6: 47,940,510 (GRCm39) |
S290P |
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 |
|
|
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'- ACTCTCGTGTTGTGGTATGC -3'
(R):5'- GGCTGTGGGAGGGGTAAATTATA -3'
Sequencing Primer
(F):5'- GTATGCTAAGTCTGGAAGTATTTGC -3'
(R):5'- AGGACCATGAGTTGATGTCCATCC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation