Incidental Mutation 'R8234:Samhd1'
| ID |
637252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samhd1
|
| Ensembl Gene |
ENSMUSG00000027639 |
| Gene Name |
SAM domain and HD domain, 1 |
| Synonyms |
E330031J07Rik |
| MMRRC Submission |
067666-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8234 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156939454-156977016 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 156958270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057725]
[ENSMUST00000088523]
[ENSMUST00000109549]
[ENSMUST00000123932]
|
| AlphaFold |
Q60710 |
| Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd4 |
T |
A |
14: 54,499,133 (GRCm39) |
M38K |
probably benign |
Het |
| Ackr1 |
T |
A |
1: 173,159,582 (GRCm39) |
R312S |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,094,845 (GRCm39) |
V2213A |
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,390,835 (GRCm39) |
R439W |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,864,920 (GRCm39) |
|
probably null |
Het |
| Casd1 |
A |
G |
6: 4,601,209 (GRCm39) |
N14S |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,242,974 (GRCm39) |
S542G |
probably benign |
Het |
| Cyb5rl |
A |
G |
4: 106,925,935 (GRCm39) |
Y39C |
probably damaging |
Het |
| Dmpk |
A |
T |
7: 18,822,048 (GRCm39) |
K335N |
probably benign |
Het |
| Dnai1 |
A |
G |
4: 41,625,221 (GRCm39) |
D395G |
probably benign |
Het |
| Dock4 |
C |
T |
12: 40,884,837 (GRCm39) |
|
probably null |
Het |
| Eif1ad5 |
A |
T |
12: 87,940,508 (GRCm39) |
I71L |
noncoding transcript |
Het |
| Fmo4 |
T |
C |
1: 162,632,757 (GRCm39) |
D198G |
probably damaging |
Het |
| Foxc2 |
G |
A |
8: 121,844,777 (GRCm39) |
R475Q |
probably damaging |
Het |
| Gipr |
C |
A |
7: 18,898,533 (GRCm39) |
G37V |
unknown |
Het |
| Gpat3 |
T |
C |
5: 101,005,076 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
A |
G |
9: 58,751,433 (GRCm39) |
D353G |
unknown |
Het |
| Hectd4 |
T |
A |
5: 121,477,607 (GRCm39) |
N2843K |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,469,761 (GRCm39) |
V4973M |
possibly damaging |
Het |
| Il20rb |
C |
T |
9: 100,341,263 (GRCm39) |
S281N |
probably benign |
Het |
| Kcnh4 |
A |
T |
11: 100,643,093 (GRCm39) |
N391K |
possibly damaging |
Het |
| Kitl |
A |
G |
10: 99,887,708 (GRCm39) |
T6A |
probably damaging |
Het |
| Krt36 |
A |
G |
11: 99,995,027 (GRCm39) |
Y182H |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 41,202,668 (GRCm39) |
I1262L |
|
Het |
| Mtf1 |
A |
G |
4: 124,738,039 (GRCm39) |
E644G |
probably benign |
Het |
| Mtx2 |
A |
G |
2: 74,699,706 (GRCm39) |
Y159C |
probably damaging |
Het |
| Nags |
C |
T |
11: 102,039,824 (GRCm39) |
S504F |
probably damaging |
Het |
| Ncam1 |
A |
T |
9: 49,456,523 (GRCm39) |
F475L |
probably damaging |
Het |
| Nipal2 |
G |
T |
15: 34,600,178 (GRCm39) |
T213N |
possibly damaging |
Het |
| Or52m1 |
T |
A |
7: 102,289,678 (GRCm39) |
L75Q |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,313 (GRCm39) |
S188P |
probably damaging |
Het |
| Pkm |
T |
C |
9: 59,577,882 (GRCm39) |
V233A |
possibly damaging |
Het |
| Pros1 |
T |
A |
16: 62,748,540 (GRCm39) |
I671N |
possibly damaging |
Het |
| Rasd1 |
T |
C |
11: 59,855,118 (GRCm39) |
I121V |
probably damaging |
Het |
| Relch |
T |
C |
1: 105,681,235 (GRCm39) |
S1180P |
possibly damaging |
Het |
| Serpinb9f |
A |
T |
13: 33,509,898 (GRCm39) |
Y30F |
probably benign |
Het |
| Slc5a10 |
T |
C |
11: 61,564,107 (GRCm39) |
I543V |
probably benign |
Het |
| Stat5a |
A |
G |
11: 100,770,129 (GRCm39) |
I469V |
possibly damaging |
Het |
| Sugct |
T |
C |
13: 17,032,459 (GRCm39) |
E431G |
probably benign |
Het |
| Tecr |
C |
A |
8: 84,299,880 (GRCm39) |
R133L |
possibly damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,002 (GRCm39) |
N106S |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,594,285 (GRCm39) |
S49G |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,692,640 (GRCm39) |
S244T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,553,324 (GRCm39) |
D31055G |
probably damaging |
Het |
| Vcp |
A |
T |
4: 42,985,242 (GRCm39) |
I369N |
probably damaging |
Het |
| Vmn2r110 |
A |
C |
17: 20,804,691 (GRCm39) |
N76K |
probably benign |
Het |
| Vmn2r12 |
T |
C |
5: 109,234,074 (GRCm39) |
T713A |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,601,235 (GRCm39) |
K844N |
probably benign |
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 |
|
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 |
|
|
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'- AGTACACTAACTATCGTTTGGGG -3'
(R):5'- GCTGAGAACCTGTACTAAGCCG -3'
Sequencing Primer
(F):5'- TGGGGTAAATAATGTCTAACGGACTC -3'
(R):5'- CTGAGAACCTGTACTAAGCCGTATTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation