Incidental Mutation 'R1469:Smchd1'
ID |
164797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smchd1
|
Ensembl Gene |
ENSMUSG00000024054 |
Gene Name |
SMC hinge domain containing 1 |
Synonyms |
MommeD1, 4931400A14Rik |
MMRRC Submission |
039522-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.874)
|
Stock # |
R1469 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 71656725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 1914
(R1914H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
AlphaFold |
Q6P5D8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000127430
AA Change: R1914H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121835 Gene: ENSMUSG00000024054 AA Change: R1914H
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: ENSMUST00000138193
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182049
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182205
|
Meta Mutation Damage Score |
0.0638 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 95.3%
- 10x: 69.3%
- 20x: 30.3%
|
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: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
A |
T |
5: 77,039,526 (GRCm39) |
V261E |
probably damaging |
Het |
Abca15 |
A |
G |
7: 119,981,720 (GRCm39) |
E1058G |
probably benign |
Het |
Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
Actn4 |
A |
G |
7: 28,604,753 (GRCm39) |
V348A |
probably benign |
Het |
Agtr1b |
A |
T |
3: 20,369,664 (GRCm39) |
L314H |
probably damaging |
Het |
Ankrd55 |
T |
C |
13: 112,504,460 (GRCm39) |
M402T |
probably benign |
Het |
Asap2 |
A |
G |
12: 21,263,180 (GRCm39) |
Q265R |
probably benign |
Het |
Atp2b4 |
G |
A |
1: 133,634,677 (GRCm39) |
R1124C |
probably damaging |
Het |
Atp2c1 |
A |
T |
9: 105,312,351 (GRCm39) |
C353* |
probably null |
Het |
Atp8b5 |
T |
A |
4: 43,291,733 (GRCm39) |
|
probably null |
Het |
Baz1b |
T |
A |
5: 135,246,833 (GRCm39) |
Y761N |
probably damaging |
Het |
Bend6 |
A |
G |
1: 33,903,824 (GRCm39) |
V38A |
probably benign |
Het |
Camk1g |
T |
C |
1: 193,044,399 (GRCm39) |
E5G |
possibly damaging |
Het |
Ccdc14 |
T |
A |
16: 34,527,152 (GRCm39) |
H352Q |
probably damaging |
Het |
Cdh2 |
A |
G |
18: 16,757,324 (GRCm39) |
V641A |
possibly damaging |
Het |
Celsr2 |
C |
A |
3: 108,321,424 (GRCm39) |
D463Y |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,885,314 (GRCm39) |
Y434H |
probably damaging |
Het |
Cnih2 |
T |
C |
19: 5,143,730 (GRCm39) |
Y142C |
probably damaging |
Het |
Coa5 |
T |
A |
1: 37,459,681 (GRCm39) |
R71* |
probably null |
Het |
Csmd3 |
A |
T |
15: 47,532,598 (GRCm39) |
Y2532* |
probably null |
Het |
Cytl1 |
A |
T |
5: 37,892,991 (GRCm39) |
M34L |
probably benign |
Het |
Dctn1 |
T |
A |
6: 83,169,871 (GRCm39) |
I590N |
probably damaging |
Het |
Dhx57 |
T |
C |
17: 80,561,847 (GRCm39) |
H889R |
probably damaging |
Het |
Dock10 |
A |
G |
1: 80,490,275 (GRCm39) |
I1948T |
probably benign |
Het |
Dock3 |
A |
T |
9: 106,832,908 (GRCm39) |
N1034K |
probably benign |
Het |
Dzip1l |
G |
A |
9: 99,541,829 (GRCm39) |
|
probably null |
Het |
Eif4g1 |
T |
A |
16: 20,498,758 (GRCm39) |
V439E |
possibly damaging |
Het |
Eml5 |
T |
C |
12: 98,825,082 (GRCm39) |
I712V |
probably benign |
Het |
Entrep1 |
G |
A |
19: 23,950,970 (GRCm39) |
T537I |
probably benign |
Het |
Epha3 |
C |
T |
16: 63,473,857 (GRCm39) |
G300D |
probably damaging |
Het |
Erbb4 |
A |
C |
1: 68,599,841 (GRCm39) |
S79A |
probably damaging |
Het |
Gclc |
T |
C |
9: 77,688,419 (GRCm39) |
V205A |
probably benign |
Het |
Gdpd4 |
A |
G |
7: 97,623,673 (GRCm39) |
|
probably null |
Het |
Gm11564 |
C |
T |
11: 99,706,058 (GRCm39) |
C124Y |
unknown |
Het |
Gm16494 |
T |
C |
17: 47,327,770 (GRCm39) |
E38G |
probably damaging |
Het |
Gtf2h1 |
T |
C |
7: 46,454,549 (GRCm39) |
|
probably null |
Het |
Gtsf2 |
G |
T |
15: 103,349,644 (GRCm39) |
R68S |
probably benign |
Het |
Heatr5b |
T |
C |
17: 79,115,813 (GRCm39) |
Q881R |
probably damaging |
Het |
Hmox1 |
C |
A |
8: 75,825,463 (GRCm39) |
L236I |
probably benign |
Het |
Ighv8-12 |
T |
C |
12: 115,611,963 (GRCm39) |
I7V |
probably benign |
Het |
Izumo1 |
T |
C |
7: 45,272,437 (GRCm39) |
S73P |
probably damaging |
Het |
Kifbp |
A |
T |
10: 62,395,229 (GRCm39) |
F471Y |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,901,827 (GRCm39) |
N1176S |
possibly damaging |
Het |
Mecom |
A |
T |
3: 30,034,197 (GRCm39) |
L493Q |
probably damaging |
Het |
Mprip |
T |
C |
11: 59,650,016 (GRCm39) |
V1240A |
probably damaging |
Het |
Mrpl3 |
T |
C |
9: 104,954,201 (GRCm39) |
S302P |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,425,956 (GRCm39) |
T2390A |
probably damaging |
Het |
Myo1c |
T |
C |
11: 75,560,787 (GRCm39) |
S766P |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,743,680 (GRCm39) |
Q247R |
probably damaging |
Het |
Nav3 |
G |
A |
10: 109,596,369 (GRCm39) |
T1423I |
probably damaging |
Het |
Nefh |
A |
T |
11: 4,890,066 (GRCm39) |
I851N |
probably benign |
Het |
Nup98 |
T |
C |
7: 101,788,008 (GRCm39) |
T1004A |
probably benign |
Het |
Or1e17 |
T |
C |
11: 73,831,383 (GRCm39) |
F104L |
probably benign |
Het |
Or1e22 |
G |
A |
11: 73,377,149 (GRCm39) |
S167L |
possibly damaging |
Het |
Or5k8 |
G |
A |
16: 58,644,973 (GRCm39) |
T33I |
probably benign |
Het |
Or5p76 |
T |
C |
7: 108,122,411 (GRCm39) |
T249A |
probably benign |
Het |
Osgin1 |
G |
T |
8: 120,172,124 (GRCm39) |
R306L |
possibly damaging |
Het |
Otof |
A |
G |
5: 30,537,571 (GRCm39) |
L1246P |
probably benign |
Het |
Pde8a |
T |
A |
7: 80,952,019 (GRCm39) |
N273K |
probably damaging |
Het |
Phf14 |
T |
A |
6: 11,933,726 (GRCm39) |
M196K |
possibly damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,373,585 (GRCm39) |
S1374P |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,400,282 (GRCm39) |
V2142A |
probably benign |
Het |
Plb1 |
A |
G |
5: 32,512,170 (GRCm39) |
E1318G |
possibly damaging |
Het |
Plekhh2 |
A |
G |
17: 84,883,199 (GRCm39) |
I756V |
probably benign |
Het |
Primpol |
A |
G |
8: 47,046,672 (GRCm39) |
V208A |
probably benign |
Het |
Ptch2 |
C |
A |
4: 116,965,662 (GRCm39) |
A389E |
probably benign |
Het |
Pzp |
A |
G |
6: 128,489,319 (GRCm39) |
Y431H |
probably benign |
Het |
Rnf43 |
G |
A |
11: 87,622,233 (GRCm39) |
G445R |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,362,727 (GRCm39) |
|
probably null |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Shisa9 |
T |
A |
16: 11,802,935 (GRCm39) |
M164K |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,882,708 (GRCm39) |
I251V |
probably benign |
Het |
Slc16a14 |
C |
T |
1: 84,907,182 (GRCm39) |
D31N |
probably damaging |
Het |
Slc22a13 |
T |
C |
9: 119,022,361 (GRCm39) |
S548G |
possibly damaging |
Het |
Slc4a9 |
T |
C |
18: 36,664,154 (GRCm39) |
F316L |
probably benign |
Het |
Snx16 |
C |
T |
3: 10,499,431 (GRCm39) |
D200N |
probably damaging |
Het |
Spock3 |
A |
G |
8: 63,404,934 (GRCm39) |
D34G |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,467,916 (GRCm39) |
C4154R |
probably damaging |
Het |
Sytl3 |
C |
T |
17: 6,954,723 (GRCm39) |
A131V |
probably benign |
Het |
Tacc1 |
T |
A |
8: 25,672,271 (GRCm39) |
D319V |
probably benign |
Het |
Tead1 |
A |
T |
7: 112,475,391 (GRCm39) |
K234I |
probably damaging |
Het |
Tgfbrap1 |
C |
T |
1: 43,114,618 (GRCm39) |
V161I |
probably benign |
Het |
Tnfaip3 |
A |
G |
10: 18,884,017 (GRCm39) |
V121A |
probably damaging |
Het |
Tnnt2 |
A |
G |
1: 135,779,793 (GRCm39) |
T297A |
possibly damaging |
Het |
Trappc11 |
G |
A |
8: 47,957,000 (GRCm39) |
L809F |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,601,869 (GRCm39) |
I18598V |
probably benign |
Het |
Ugt1a10 |
G |
A |
1: 88,143,976 (GRCm39) |
A199T |
probably damaging |
Het |
Unc5a |
A |
G |
13: 55,144,232 (GRCm39) |
N186D |
probably damaging |
Het |
Uqcrfs1 |
C |
A |
13: 30,724,784 (GRCm39) |
G252V |
probably damaging |
Het |
Vmn2r115 |
T |
C |
17: 23,564,992 (GRCm39) |
I293T |
probably damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,991,694 (GRCm39) |
T556A |
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,997,529 (GRCm39) |
Y1029N |
probably benign |
Het |
Zfp451 |
T |
A |
1: 33,808,894 (GRCm39) |
K989M |
possibly damaging |
Het |
Zfpm1 |
C |
T |
8: 123,062,585 (GRCm39) |
T548M |
probably 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 |
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 |
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'- ACACAAGCACATACCGAGTTTCTGC -3'
(R):5'- AGTGCAACAGTTAGTGCTCTTTCCC -3'
Sequencing Primer
(F):5'- GAGTTTCTGCTCTATTCGTTTCAGAC -3'
(R):5'- CTCCCAAGTTACTTAGTGATGCTAA -3'
|
Posted On |
2014-03-28 |