Incidental Mutation 'R1918:Smchd1'
ID |
212780 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smchd1
|
Ensembl Gene |
ENSMUSG00000024054 |
Gene Name |
SMC hinge domain containing 1 |
Synonyms |
MommeD1, 4931400A14Rik |
MMRRC Submission |
039936-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.838)
|
Stock # |
R1918 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71714232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 877
(I877T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
AlphaFold |
Q6P5D8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127430
AA Change: I877T
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000121835 Gene: ENSMUSG00000024054 AA Change: I877T
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 |
|
Meta Mutation Damage Score |
0.0619 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.7%
- 20x: 93.5%
|
Validation Efficiency |
97% (113/116) |
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: 116 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
T |
G |
7: 29,273,514 (GRCm39) |
|
noncoding transcript |
Het |
A2m |
T |
C |
6: 121,621,895 (GRCm39) |
S314P |
probably benign |
Het |
Abcc9 |
T |
A |
6: 142,643,408 (GRCm39) |
I47F |
probably damaging |
Het |
Abcd2 |
C |
T |
15: 91,075,684 (GRCm39) |
R43H |
probably benign |
Het |
Adgre5 |
A |
G |
8: 84,455,738 (GRCm39) |
V190A |
probably damaging |
Het |
Aen |
C |
T |
7: 78,555,777 (GRCm39) |
H242Y |
possibly damaging |
Het |
Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
Arhgap10 |
T |
C |
8: 77,985,708 (GRCm39) |
I698V |
probably benign |
Het |
Arpp21 |
C |
T |
9: 111,948,246 (GRCm39) |
|
probably benign |
Het |
Atp10a |
T |
C |
7: 58,477,683 (GRCm39) |
I1294T |
possibly damaging |
Het |
Atp13a2 |
T |
C |
4: 140,723,682 (GRCm39) |
Y337H |
possibly damaging |
Het |
Bsn |
C |
T |
9: 107,984,772 (GRCm39) |
G3094D |
unknown |
Het |
Cadm2 |
G |
A |
16: 66,544,270 (GRCm39) |
|
probably benign |
Het |
Cadps |
T |
C |
14: 12,546,372 (GRCm38) |
M495V |
probably damaging |
Het |
Cass4 |
A |
G |
2: 172,269,259 (GRCm39) |
H447R |
possibly damaging |
Het |
Ccdc124 |
C |
A |
8: 71,321,588 (GRCm39) |
R108L |
probably benign |
Het |
Ccdc141 |
C |
T |
2: 76,845,047 (GRCm39) |
R1340Q |
probably benign |
Het |
Ccdc148 |
T |
G |
2: 58,872,911 (GRCm39) |
R299S |
probably damaging |
Het |
Cd300lg |
A |
G |
11: 101,944,936 (GRCm39) |
E382G |
probably damaging |
Het |
Cd36 |
A |
T |
5: 18,002,034 (GRCm39) |
C322* |
probably null |
Het |
Celsr2 |
C |
T |
3: 108,305,966 (GRCm39) |
G2046D |
probably benign |
Het |
Clasrp |
C |
T |
7: 19,319,188 (GRCm39) |
W492* |
probably null |
Het |
Cmtr1 |
T |
C |
17: 29,897,983 (GRCm39) |
V154A |
possibly damaging |
Het |
Ctnnb1 |
C |
T |
9: 120,780,100 (GRCm39) |
P128S |
possibly damaging |
Het |
Cyp11a1 |
A |
G |
9: 57,934,040 (GRCm39) |
I496V |
probably damaging |
Het |
Disp2 |
G |
A |
2: 118,622,408 (GRCm39) |
V1047I |
probably benign |
Het |
Dync2i1 |
A |
C |
12: 116,196,221 (GRCm39) |
S509A |
probably damaging |
Het |
Eps8l2 |
T |
C |
7: 140,941,637 (GRCm39) |
V636A |
probably damaging |
Het |
Fars2 |
T |
C |
13: 36,388,529 (GRCm39) |
L6P |
probably damaging |
Het |
Fem1al |
A |
G |
11: 29,774,039 (GRCm39) |
S473P |
probably benign |
Het |
Fnip1 |
C |
T |
11: 54,371,510 (GRCm39) |
T177I |
probably damaging |
Het |
Fut8 |
G |
T |
12: 77,378,992 (GRCm39) |
R31L |
probably benign |
Het |
G6pd2 |
T |
C |
5: 61,967,664 (GRCm39) |
F480L |
probably benign |
Het |
Glipr1l2 |
T |
A |
10: 111,928,550 (GRCm39) |
C148* |
probably null |
Het |
Gm10142 |
G |
A |
10: 77,551,821 (GRCm39) |
V61M |
probably benign |
Het |
Gm5134 |
T |
A |
10: 75,812,180 (GRCm39) |
M145K |
possibly damaging |
Het |
Gnpda1 |
T |
C |
18: 38,466,243 (GRCm39) |
|
probably null |
Het |
Gpc2 |
T |
C |
5: 138,276,641 (GRCm39) |
T162A |
probably benign |
Het |
Gtf2h4 |
G |
A |
17: 35,981,090 (GRCm39) |
L246F |
possibly damaging |
Het |
Hal |
C |
T |
10: 93,332,469 (GRCm39) |
P294S |
probably damaging |
Het |
Hectd3 |
C |
T |
4: 116,857,540 (GRCm39) |
A573V |
possibly damaging |
Het |
Hephl1 |
T |
A |
9: 14,988,114 (GRCm39) |
I665F |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,383,408 (GRCm39) |
|
probably null |
Het |
Hif1an |
A |
G |
19: 44,559,551 (GRCm39) |
|
probably null |
Het |
Iho1 |
T |
A |
9: 108,290,184 (GRCm39) |
H140L |
probably benign |
Het |
Il12rb1 |
T |
A |
8: 71,266,324 (GRCm39) |
M223K |
probably benign |
Het |
Ilf3 |
C |
T |
9: 21,305,010 (GRCm39) |
T201M |
probably damaging |
Het |
Inpp5f |
T |
C |
7: 128,265,693 (GRCm39) |
|
probably benign |
Het |
Jcad |
T |
C |
18: 4,674,292 (GRCm39) |
Y685H |
probably damaging |
Het |
Kcnj1 |
C |
A |
9: 32,308,034 (GRCm39) |
Q153K |
probably benign |
Het |
Kctd18 |
A |
C |
1: 57,998,379 (GRCm39) |
H73Q |
probably damaging |
Het |
Klhl36 |
T |
A |
8: 120,603,463 (GRCm39) |
W573R |
probably damaging |
Het |
Ldc1 |
A |
T |
4: 130,105,186 (GRCm39) |
V328D |
probably benign |
Het |
Lepr |
A |
G |
4: 101,630,033 (GRCm39) |
T583A |
probably benign |
Het |
Ltbp4 |
G |
A |
7: 27,036,994 (GRCm39) |
|
probably benign |
Het |
Mapt |
A |
T |
11: 104,189,325 (GRCm39) |
E114D |
probably benign |
Het |
Mib1 |
T |
A |
18: 10,740,972 (GRCm39) |
|
probably null |
Het |
Mthfd1 |
G |
T |
12: 76,361,750 (GRCm39) |
A119S |
probably damaging |
Het |
Mylk4 |
A |
T |
13: 32,908,836 (GRCm39) |
D90E |
probably benign |
Het |
Nceh1 |
T |
G |
3: 27,237,324 (GRCm39) |
L33R |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,092,868 (GRCm39) |
I91T |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,152,498 (GRCm39) |
|
probably benign |
Het |
Oasl1 |
G |
A |
5: 115,061,528 (GRCm39) |
A20T |
possibly damaging |
Het |
Or2m12 |
A |
T |
16: 19,105,052 (GRCm39) |
M147K |
probably benign |
Het |
Or4c127 |
T |
C |
2: 89,832,918 (GRCm39) |
F56S |
probably benign |
Het |
Or4d6 |
A |
G |
19: 12,086,871 (GRCm39) |
V13A |
probably benign |
Het |
Or5b97 |
A |
G |
19: 12,878,215 (GRCm39) |
*310Q |
probably null |
Het |
Or5t18 |
C |
T |
2: 86,637,171 (GRCm39) |
M57I |
probably damaging |
Het |
Or6c2 |
T |
A |
10: 129,362,918 (GRCm39) |
V274D |
probably damaging |
Het |
Pepd |
T |
C |
7: 34,671,101 (GRCm39) |
V215A |
probably benign |
Het |
Pfkl |
A |
T |
10: 77,837,260 (GRCm39) |
N104K |
probably damaging |
Het |
Phf24 |
T |
C |
4: 42,938,165 (GRCm39) |
|
probably benign |
Het |
Pink1 |
T |
C |
4: 138,041,331 (GRCm39) |
N530S |
probably benign |
Het |
Pou3f2 |
T |
C |
4: 22,487,119 (GRCm39) |
D338G |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,801,244 (GRCm39) |
V480A |
probably damaging |
Het |
Ptgfrn |
A |
T |
3: 100,963,623 (GRCm39) |
I663N |
probably benign |
Het |
Rad54b |
A |
C |
4: 11,601,693 (GRCm39) |
N416T |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,662,351 (GRCm39) |
S200P |
possibly damaging |
Het |
Rbm33 |
T |
A |
5: 28,592,915 (GRCm39) |
I605N |
probably damaging |
Het |
Rps19bp1 |
T |
C |
15: 80,148,280 (GRCm39) |
T31A |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,571,584 (GRCm39) |
T4885S |
possibly damaging |
Het |
Serpinb6b |
A |
G |
13: 33,162,223 (GRCm39) |
I222V |
probably benign |
Het |
Sik3 |
C |
G |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
Skor2 |
T |
C |
18: 76,947,051 (GRCm39) |
S258P |
unknown |
Het |
Slc22a29 |
C |
T |
19: 8,195,123 (GRCm39) |
|
probably null |
Het |
Slc8a3 |
A |
T |
12: 81,361,618 (GRCm39) |
F400L |
probably damaging |
Het |
Slc9a8 |
T |
C |
2: 167,266,134 (GRCm39) |
I37T |
possibly damaging |
Het |
Spag5 |
A |
G |
11: 78,195,002 (GRCm39) |
N103S |
probably benign |
Het |
Sptbn1 |
A |
T |
11: 30,092,414 (GRCm39) |
F450L |
probably damaging |
Het |
Strn4 |
T |
A |
7: 16,567,846 (GRCm39) |
Y507N |
probably damaging |
Het |
Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
Syt17 |
G |
T |
7: 118,033,208 (GRCm39) |
L267I |
possibly damaging |
Het |
Tcstv4 |
T |
C |
13: 120,769,758 (GRCm39) |
L26P |
probably damaging |
Het |
Tdo2 |
T |
A |
3: 81,866,247 (GRCm39) |
R339W |
probably damaging |
Het |
Tex55 |
A |
G |
16: 38,648,450 (GRCm39) |
Y220H |
possibly damaging |
Het |
Timd5 |
A |
G |
11: 46,419,358 (GRCm39) |
D58G |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,571,745 (GRCm39) |
S26383P |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,638,868 (GRCm39) |
T13938K |
probably damaging |
Het |
Tulp2 |
A |
G |
7: 45,167,365 (GRCm39) |
N188D |
possibly damaging |
Het |
Ube3c |
C |
T |
5: 29,792,315 (GRCm39) |
R37C |
probably damaging |
Het |
Uggt2 |
G |
T |
14: 119,245,467 (GRCm39) |
|
probably benign |
Het |
Umodl1 |
G |
A |
17: 31,203,017 (GRCm39) |
V457M |
probably damaging |
Het |
Usp17la |
C |
T |
7: 104,509,953 (GRCm39) |
T186I |
probably benign |
Het |
Vmn1r226 |
T |
C |
17: 20,907,842 (GRCm39) |
S25P |
probably damaging |
Het |
Vmn1r235 |
T |
A |
17: 21,482,659 (GRCm39) |
I328K |
possibly damaging |
Het |
Vmn2r50 |
A |
T |
7: 9,781,610 (GRCm39) |
S378R |
probably benign |
Het |
Vwa2 |
C |
T |
19: 56,897,366 (GRCm39) |
T557I |
probably benign |
Het |
Vxn |
T |
C |
1: 9,671,852 (GRCm39) |
F15S |
probably damaging |
Het |
Yes1 |
G |
T |
5: 32,842,079 (GRCm39) |
Q534H |
probably benign |
Het |
Zbtb25 |
A |
T |
12: 76,396,075 (GRCm39) |
Y382* |
probably null |
Het |
Zc3h3 |
G |
A |
15: 75,648,967 (GRCm39) |
P722S |
probably damaging |
Het |
Zfp36l2 |
T |
C |
17: 84,494,164 (GRCm39) |
T158A |
probably damaging |
Het |
Zfp536 |
T |
C |
7: 37,179,624 (GRCm39) |
T994A |
probably damaging |
Het |
Zfp592 |
C |
T |
7: 80,687,168 (GRCm39) |
Q824* |
probably null |
Het |
Zfp629 |
C |
A |
7: 127,211,172 (GRCm39) |
K212N |
probably damaging |
Het |
Zfp930 |
C |
A |
8: 69,681,357 (GRCm39) |
Q350K |
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 |
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'- TGAGTCAGATAACACAGCACTGAC -3'
(R):5'- ACCACTTACAATGTTTGCTTGGC -3'
Sequencing Primer
(F):5'- GCACTGACAAATTTCCAACATCTTAG -3'
(R):5'- GCTATATAAGGGGATCTCTGACTC -3'
|
Posted On |
2014-07-14 |