Incidental Mutation 'R1199:Samhd1'
| ID |
101176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samhd1
|
| Ensembl Gene |
ENSMUSG00000027639 |
| Gene Name |
SAM domain and HD domain, 1 |
| Synonyms |
E330031J07Rik |
| MMRRC Submission |
039269-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1199 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156939454-156977016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156951381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 452
(I452N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057725]
[ENSMUST00000088523]
[ENSMUST00000109549]
[ENSMUST00000123932]
|
| AlphaFold |
Q60710 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057725
AA Change: I452N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: I452N
| 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 damaging
Transcript: ENSMUST00000088523
AA Change: I452N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: I452N
| 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 damaging
Transcript: ENSMUST00000109549
AA Change: I452N
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639
AA Change: I452N
| 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: I431N
|
| SMART Domains |
Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: I431N
| 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
|
| Meta Mutation Damage Score |
0.9461 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
| Validation Efficiency |
96% (55/57) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
T |
9: 108,270,676 (GRCm39) |
H80L |
possibly damaging |
Het |
| A1bg |
A |
T |
15: 60,791,484 (GRCm39) |
|
probably null |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,256,756 (GRCm39) |
Y1283F |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,842,973 (GRCm39) |
V107A |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Btnl9 |
A |
T |
11: 49,071,574 (GRCm39) |
V83E |
probably damaging |
Het |
| Camk2a |
T |
A |
18: 61,085,396 (GRCm39) |
C131* |
probably null |
Het |
| Ccdc14 |
C |
T |
16: 34,544,198 (GRCm39) |
T852M |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,330,558 (GRCm39) |
|
probably benign |
Het |
| Cp |
T |
G |
3: 20,031,316 (GRCm39) |
S585R |
probably damaging |
Het |
| Cpt1b |
G |
A |
15: 89,303,213 (GRCm39) |
A614V |
probably benign |
Het |
| Crygn |
T |
C |
5: 24,956,146 (GRCm39) |
Y153C |
probably damaging |
Het |
| Dennd1a |
A |
T |
2: 37,851,728 (GRCm39) |
D53E |
probably damaging |
Het |
| Deptor |
T |
C |
15: 55,115,406 (GRCm39) |
C357R |
probably benign |
Het |
| Dnajc28 |
C |
A |
16: 91,415,530 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
G |
A |
11: 29,705,044 (GRCm39) |
A1500V |
possibly damaging |
Het |
| Fgd5 |
T |
A |
6: 91,963,959 (GRCm39) |
L64Q |
possibly damaging |
Het |
| Fgfbp1 |
A |
G |
5: 44,136,939 (GRCm39) |
Y118H |
probably damaging |
Het |
| Ftcd |
G |
A |
10: 76,415,653 (GRCm39) |
R135H |
probably damaging |
Het |
| Gm5174 |
A |
T |
10: 86,493,189 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
A |
T |
1: 135,094,710 (GRCm39) |
L178Q |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,439,918 (GRCm39) |
V104A |
possibly damaging |
Het |
| Irs1 |
T |
A |
1: 82,267,347 (GRCm39) |
S290C |
probably damaging |
Het |
| Kel |
C |
T |
6: 41,665,525 (GRCm39) |
V532I |
possibly damaging |
Het |
| Kif1c |
A |
G |
11: 70,599,427 (GRCm39) |
E442G |
possibly damaging |
Het |
| Klhdc10 |
T |
A |
6: 30,449,493 (GRCm39) |
V185D |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,500,610 (GRCm39) |
R141C |
probably damaging |
Het |
| Or52a5 |
A |
T |
7: 103,427,192 (GRCm39) |
M120K |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,379 (GRCm39) |
I37V |
probably benign |
Het |
| Pcnx2 |
G |
T |
8: 126,614,053 (GRCm39) |
P466H |
possibly damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,244,532 (GRCm39) |
|
probably benign |
Het |
| Pkd2l2 |
T |
C |
18: 34,571,269 (GRCm39) |
|
probably null |
Het |
| Pomt1 |
A |
G |
2: 32,140,504 (GRCm39) |
N454S |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,844,711 (GRCm39) |
Q178R |
probably benign |
Het |
| Slc25a44 |
A |
G |
3: 88,328,293 (GRCm39) |
V66A |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,189 (GRCm39) |
T245A |
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,363,653 (GRCm39) |
|
probably null |
Het |
| Spata6 |
T |
A |
4: 111,656,342 (GRCm39) |
C329S |
possibly damaging |
Het |
| Srrm2 |
A |
T |
17: 24,036,725 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,059,217 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
G |
T |
8: 48,688,617 (GRCm39) |
S2323R |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,555,638 (GRCm39) |
R245Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,739,100 (GRCm39) |
V3813A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,780,388 (GRCm39) |
T1121M |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,491,992 (GRCm39) |
V3094I |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,827,913 (GRCm39) |
|
probably null |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,828 (GRCm39) |
L3Q |
probably damaging |
Het |
| Vmn1r60 |
A |
C |
7: 5,547,971 (GRCm39) |
V43G |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,803,525 (GRCm39) |
I350T |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,284,443 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,863,814 (GRCm39) |
|
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAACCTTTCAGCCTTTGACTTAGC -3'
(R):5'- TGAAGCACAGTAGGTGTGCAACTC -3'
Sequencing Primer
(F):5'- CTCAGTGCTGACAAGGTTGTTTG -3'
(R):5'- TGTGCAACTCACGGTCATAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation