Incidental Mutation 'IGL01775:Samhd1'
ID |
154100 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Samhd1
|
Ensembl Gene |
ENSMUSG00000027639 |
Gene Name |
SAM domain and HD domain, 1 |
Synonyms |
E330031J07Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01775
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
156939454-156977016 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 156956250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057725]
[ENSMUST00000088523]
[ENSMUST00000109549]
[ENSMUST00000123932]
|
AlphaFold |
Q60710 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057725
|
SMART Domains |
Protein: ENSMUSP00000059717 Gene: ENSMUSG00000027639
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
65 |
N/A |
INTRINSIC |
SAM
|
74 |
142 |
4.4e-14 |
SMART |
HDc
|
192 |
357 |
1.89e-9 |
SMART |
Blast:HDc
|
398 |
437 |
1e-16 |
BLAST |
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088523
|
SMART Domains |
Protein: ENSMUSP00000085880 Gene: ENSMUSG00000027639
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
65 |
N/A |
INTRINSIC |
SAM
|
74 |
142 |
4.4e-14 |
SMART |
HDc
|
192 |
357 |
1.89e-9 |
SMART |
Blast:HDc
|
398 |
437 |
2e-16 |
BLAST |
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109549
|
SMART Domains |
Protein: ENSMUSP00000105176 Gene: ENSMUSG00000027639
Domain | Start | End | E-Value | Type |
low complexity region
|
49 |
65 |
N/A |
INTRINSIC |
SAM
|
74 |
142 |
4.4e-14 |
SMART |
HDc
|
192 |
357 |
1.89e-9 |
SMART |
Blast:HDc
|
398 |
437 |
1e-16 |
BLAST |
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123932
|
SMART Domains |
Protein: ENSMUSP00000124599 Gene: ENSMUSG00000027639
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
SAM
|
43 |
112 |
1.51e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139149
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139263
|
SMART Domains |
Protein: ENSMUSP00000124935 Gene: ENSMUSG00000027639
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
45 |
N/A |
INTRINSIC |
SAM
|
54 |
122 |
4.4e-14 |
SMART |
HDc
|
172 |
337 |
1.89e-9 |
SMART |
Blast:HDc
|
378 |
417 |
2e-16 |
BLAST |
low complexity region
|
486 |
497 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142508
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160213
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to infection with pseudotyped HIV-1. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
A |
T |
11: 84,361,963 (GRCm39) |
L333Q |
probably damaging |
Het |
Ablim3 |
A |
T |
18: 61,949,989 (GRCm39) |
|
probably benign |
Het |
Acsl6 |
T |
C |
11: 54,236,826 (GRCm39) |
|
probably benign |
Het |
Adra1b |
T |
A |
11: 43,726,128 (GRCm39) |
D263V |
probably damaging |
Het |
Aicda |
G |
A |
6: 122,538,012 (GRCm39) |
V57M |
probably damaging |
Het |
C2cd3 |
T |
C |
7: 100,092,638 (GRCm39) |
W494R |
probably damaging |
Het |
Ccnb1 |
T |
C |
13: 100,920,017 (GRCm39) |
S165G |
probably benign |
Het |
Cnot4 |
A |
T |
6: 35,046,411 (GRCm39) |
|
probably benign |
Het |
Dph6 |
A |
T |
2: 114,348,776 (GRCm39) |
|
probably benign |
Het |
Emc3 |
A |
G |
6: 113,508,296 (GRCm39) |
S50P |
possibly damaging |
Het |
Fbxo45 |
A |
C |
16: 32,052,093 (GRCm39) |
|
probably null |
Het |
Gm14496 |
A |
T |
2: 181,642,125 (GRCm39) |
T599S |
probably benign |
Het |
Gspt1 |
T |
C |
16: 11,041,159 (GRCm39) |
I535V |
possibly damaging |
Het |
Hemk1 |
A |
G |
9: 107,207,995 (GRCm39) |
I215T |
possibly damaging |
Het |
Ighm |
A |
T |
12: 113,386,087 (GRCm39) |
C88S |
unknown |
Het |
Itih2 |
A |
C |
2: 10,134,097 (GRCm39) |
D38E |
probably benign |
Het |
Lat |
C |
A |
7: 125,967,261 (GRCm39) |
V113L |
probably benign |
Het |
Mical2 |
T |
A |
7: 111,981,269 (GRCm39) |
F480L |
possibly damaging |
Het |
Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
Msh2 |
A |
T |
17: 87,990,074 (GRCm39) |
N254I |
possibly damaging |
Het |
Naglu |
T |
C |
11: 100,964,921 (GRCm39) |
M336T |
probably damaging |
Het |
Nhsl1 |
C |
T |
10: 18,400,222 (GRCm39) |
R483C |
probably damaging |
Het |
Nsmaf |
C |
T |
4: 6,396,791 (GRCm39) |
E899K |
possibly damaging |
Het |
Nup85 |
T |
C |
11: 115,471,593 (GRCm39) |
Y181H |
probably damaging |
Het |
Or52n2 |
A |
T |
7: 104,542,499 (GRCm39) |
M112K |
possibly damaging |
Het |
Or5m5 |
T |
C |
2: 85,815,014 (GRCm39) |
S277P |
probably damaging |
Het |
Or7g35 |
A |
T |
9: 19,496,001 (GRCm39) |
Q56L |
probably benign |
Het |
Or8g23 |
C |
A |
9: 38,971,763 (GRCm39) |
L66F |
probably damaging |
Het |
P2rx3 |
C |
T |
2: 84,854,501 (GRCm39) |
R91H |
probably benign |
Het |
Plag1 |
T |
C |
4: 3,904,513 (GRCm39) |
D226G |
probably damaging |
Het |
Pofut1 |
T |
A |
2: 153,090,393 (GRCm39) |
F96I |
probably damaging |
Het |
Prim1 |
A |
G |
10: 127,865,112 (GRCm39) |
N399S |
probably benign |
Het |
Prkd3 |
G |
T |
17: 79,320,189 (GRCm39) |
T51K |
probably damaging |
Het |
Ptprc |
T |
C |
1: 137,992,497 (GRCm39) |
Y1210C |
probably damaging |
Het |
Rbm43 |
A |
T |
2: 51,815,460 (GRCm39) |
S254T |
probably damaging |
Het |
Retsat |
G |
A |
6: 72,584,300 (GRCm39) |
R528Q |
probably damaging |
Het |
Rlig1 |
A |
T |
10: 100,419,799 (GRCm39) |
L94Q |
probably benign |
Het |
Rps8 |
C |
A |
4: 117,012,249 (GRCm39) |
R56L |
probably benign |
Het |
Sfxn1 |
T |
C |
13: 54,259,758 (GRCm39) |
|
probably benign |
Het |
Stk33 |
T |
A |
7: 108,911,574 (GRCm39) |
E396D |
possibly damaging |
Het |
Tcaim |
T |
C |
9: 122,647,890 (GRCm39) |
V135A |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,556,676 (GRCm39) |
D421G |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,640,215 (GRCm39) |
D1374G |
possibly damaging |
Het |
Wnk2 |
C |
A |
13: 49,224,586 (GRCm39) |
D232Y |
probably damaging |
Het |
Zfand1 |
T |
C |
3: 10,409,926 (GRCm39) |
T145A |
probably damaging |
Het |
|
Other mutations in Samhd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00792:Samhd1
|
APN |
2 |
156,962,468 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00903:Samhd1
|
APN |
2 |
156,949,343 (GRCm39) |
splice site |
probably benign |
|
IGL01313:Samhd1
|
APN |
2 |
156,958,321 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02245:Samhd1
|
APN |
2 |
156,952,475 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL02314:Samhd1
|
APN |
2 |
156,976,948 (GRCm39) |
missense |
probably damaging |
0.98 |
R0390:Samhd1
|
UTSW |
2 |
156,956,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R0487:Samhd1
|
UTSW |
2 |
156,952,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R0842:Samhd1
|
UTSW |
2 |
156,965,251 (GRCm39) |
missense |
probably damaging |
0.99 |
R1199:Samhd1
|
UTSW |
2 |
156,951,381 (GRCm39) |
missense |
probably damaging |
0.99 |
R1681:Samhd1
|
UTSW |
2 |
156,943,652 (GRCm39) |
missense |
probably benign |
0.45 |
R1775:Samhd1
|
UTSW |
2 |
156,949,467 (GRCm39) |
missense |
probably benign |
0.16 |
R2859:Samhd1
|
UTSW |
2 |
156,948,149 (GRCm39) |
critical splice donor site |
probably null |
|
R2903:Samhd1
|
UTSW |
2 |
156,965,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2905:Samhd1
|
UTSW |
2 |
156,965,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3983:Samhd1
|
UTSW |
2 |
156,965,369 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4432:Samhd1
|
UTSW |
2 |
156,946,813 (GRCm39) |
missense |
probably damaging |
0.99 |
R4576:Samhd1
|
UTSW |
2 |
156,943,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R5283:Samhd1
|
UTSW |
2 |
156,951,412 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5741:Samhd1
|
UTSW |
2 |
156,954,751 (GRCm39) |
missense |
probably benign |
|
R6021:Samhd1
|
UTSW |
2 |
156,962,474 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6518:Samhd1
|
UTSW |
2 |
156,956,217 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6818:Samhd1
|
UTSW |
2 |
156,949,417 (GRCm39) |
missense |
probably benign |
0.04 |
R6924:Samhd1
|
UTSW |
2 |
156,951,403 (GRCm39) |
missense |
probably benign |
0.00 |
R7307:Samhd1
|
UTSW |
2 |
156,976,940 (GRCm39) |
missense |
probably benign |
0.27 |
R7337:Samhd1
|
UTSW |
2 |
156,948,164 (GRCm39) |
missense |
probably damaging |
0.99 |
R7596:Samhd1
|
UTSW |
2 |
156,943,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R7892:Samhd1
|
UTSW |
2 |
156,958,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R8081:Samhd1
|
UTSW |
2 |
156,943,358 (GRCm39) |
nonsense |
probably null |
|
R8234:Samhd1
|
UTSW |
2 |
156,958,270 (GRCm39) |
critical splice donor site |
probably null |
|
R8400:Samhd1
|
UTSW |
2 |
156,941,353 (GRCm39) |
missense |
probably benign |
0.19 |
R8690:Samhd1
|
UTSW |
2 |
156,971,794 (GRCm39) |
missense |
probably benign |
0.00 |
R9090:Samhd1
|
UTSW |
2 |
156,956,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R9271:Samhd1
|
UTSW |
2 |
156,956,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R9765:Samhd1
|
UTSW |
2 |
156,965,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |