Incidental Mutation 'R5741:Samhd1'
| ID |
444773 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5741 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156939454-156977016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 156954751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 387
(R387H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057725]
[ENSMUST00000088523]
[ENSMUST00000109549]
[ENSMUST00000123932]
|
| AlphaFold |
Q60710 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057725
AA Change: R387H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: R387H
| 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
AA Change: R387H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: R387H
| 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
AA Change: R387H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639
AA Change: R387H
| 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 |
unknown
Transcript: ENSMUST00000139263
AA Change: R366H
|
| SMART Domains |
Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: R366H
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
T |
G |
11: 106,919,315 (GRCm39) |
F220C |
probably damaging |
Het |
| Acox3 |
C |
T |
5: 35,765,668 (GRCm39) |
H140Y |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,488,618 (GRCm39) |
I938K |
probably benign |
Het |
| Ap3m1 |
A |
C |
14: 21,095,788 (GRCm39) |
I14S |
possibly damaging |
Het |
| Arg1 |
T |
C |
10: 24,793,897 (GRCm39) |
T127A |
probably benign |
Het |
| Asah2 |
A |
G |
19: 31,986,015 (GRCm39) |
Y552H |
probably damaging |
Het |
| Cfap97d2 |
A |
T |
8: 13,784,835 (GRCm39) |
Q32L |
possibly damaging |
Het |
| Chst12 |
A |
G |
5: 140,509,688 (GRCm39) |
N105S |
probably benign |
Het |
| Cped1 |
G |
A |
6: 22,123,620 (GRCm39) |
V458I |
probably benign |
Het |
| Cyld |
T |
G |
8: 89,471,474 (GRCm39) |
I786S |
probably damaging |
Het |
| Cyp2j8 |
C |
T |
4: 96,332,880 (GRCm39) |
V489I |
probably benign |
Het |
| Dlgap4 |
T |
C |
2: 156,552,968 (GRCm39) |
Y462H |
probably damaging |
Het |
| Dnah5 |
C |
A |
15: 28,246,513 (GRCm39) |
A617D |
probably benign |
Het |
| Erc2 |
T |
A |
14: 28,024,826 (GRCm39) |
|
probably null |
Het |
| Fancm |
A |
G |
12: 65,148,389 (GRCm39) |
N668S |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,938,625 (GRCm39) |
I636V |
probably benign |
Het |
| Gtf2h2 |
A |
T |
13: 100,617,066 (GRCm39) |
C247S |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,494 (GRCm39) |
H122Q |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrguk |
T |
A |
6: 34,025,802 (GRCm39) |
D199E |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,808,615 (GRCm39) |
D95G |
probably benign |
Het |
| Map2k1 |
A |
T |
9: 64,121,883 (GRCm39) |
L30Q |
possibly damaging |
Het |
| Nell1 |
G |
A |
7: 50,210,638 (GRCm39) |
|
probably null |
Het |
| Nfatc3 |
T |
A |
8: 106,805,698 (GRCm39) |
I181N |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,354,133 (GRCm39) |
K1668R |
possibly damaging |
Het |
| Or5b113 |
A |
G |
19: 13,342,847 (GRCm39) |
N285S |
probably damaging |
Het |
| Or7e170 |
A |
G |
9: 19,794,857 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,899 (GRCm39) |
L163* |
probably null |
Het |
| Otud7b |
C |
T |
3: 96,051,615 (GRCm39) |
T189I |
probably damaging |
Het |
| Pkia |
A |
T |
3: 7,507,105 (GRCm39) |
E62D |
probably benign |
Het |
| Plcb3 |
G |
A |
19: 6,931,790 (GRCm39) |
Q1154* |
probably null |
Het |
| Pole4 |
T |
C |
6: 82,628,447 (GRCm39) |
E105G |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,882 (GRCm39) |
V344A |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,645,548 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,719,764 (GRCm39) |
D564G |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,183,849 (GRCm39) |
K65E |
possibly damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,876,500 (GRCm39) |
V345D |
possibly damaging |
Het |
| Spin1 |
G |
A |
13: 51,303,171 (GRCm39) |
V255I |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,828,559 (GRCm39) |
V197A |
probably benign |
Het |
| Tmigd1 |
T |
C |
11: 76,797,916 (GRCm39) |
V86A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,542,417 (GRCm39) |
D31777G |
probably damaging |
Het |
| Tymp |
T |
A |
15: 89,260,639 (GRCm39) |
M60L |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,584,866 (GRCm39) |
T19A |
probably damaging |
Het |
| Vmn1r234 |
G |
T |
17: 21,449,731 (GRCm39) |
C215F |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,410,690 (GRCm39) |
D250G |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,927,604 (GRCm39) |
C1463S |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,486,945 (GRCm39) |
I540N |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,681,937 (GRCm39) |
D189G |
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 |
|
IGL01775:Samhd1
|
APN |
2 |
156,956,250 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCATTCACTCACGCAGG -3'
(R):5'- TGTATTTAAGGCAGCTTCCTCG -3'
Sequencing Primer
(F):5'- GTGCAGAGCAAGCATACAC -3'
(R):5'- GCAGCTTCCTCGTTGAAAAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation