Incidental Mutation 'R3983:Samhd1'
ID |
359752 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Samhd1
|
Ensembl Gene |
ENSMUSG00000027639 |
Gene Name |
SAM domain and HD domain, 1 |
Synonyms |
E330031J07Rik |
MMRRC Submission |
040944-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3983 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
156939454-156977016 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 156965369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 149
(V149L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085880
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057725]
[ENSMUST00000088523]
[ENSMUST00000109549]
[ENSMUST00000123932]
|
AlphaFold |
Q60710 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057725
AA Change: V149L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000059717 Gene: ENSMUSG00000027639 AA Change: V149L
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 |
possibly damaging
Transcript: ENSMUST00000088523
AA Change: V149L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000085880 Gene: ENSMUSG00000027639 AA Change: V149L
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: V149L
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105176 Gene: ENSMUSG00000027639 AA Change: V149L
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
AA Change: R93S
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000124599 Gene: ENSMUSG00000027639 AA Change: R93S
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
SAM
|
43 |
112 |
1.51e-3 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000139263
AA Change: V128L
|
SMART Domains |
Protein: ENSMUSP00000124935 Gene: ENSMUSG00000027639 AA Change: V128L
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: ENSMUST00000149313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152866
|
Meta Mutation Damage Score |
0.2107 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (65/65) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
A |
11: 23,467,220 (GRCm39) |
N138Y |
possibly damaging |
Het |
4921504E06Rik |
A |
G |
2: 19,547,180 (GRCm39) |
|
probably null |
Het |
Abcc6 |
T |
C |
7: 45,644,713 (GRCm39) |
I821V |
probably benign |
Het |
Adam34 |
G |
A |
8: 44,103,806 (GRCm39) |
T613I |
probably benign |
Het |
Ap2b1 |
C |
T |
11: 83,281,542 (GRCm39) |
T816M |
probably damaging |
Het |
Cct2 |
G |
A |
10: 116,890,040 (GRCm39) |
P10L |
probably damaging |
Het |
Cdc23 |
C |
A |
18: 34,770,539 (GRCm39) |
|
probably benign |
Het |
Chrna2 |
G |
T |
14: 66,386,906 (GRCm39) |
V351L |
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,461,070 (GRCm39) |
T194S |
probably benign |
Het |
Col18a1 |
C |
A |
10: 76,924,721 (GRCm39) |
D23Y |
probably damaging |
Het |
Cyp2c50 |
A |
C |
19: 40,101,962 (GRCm39) |
K400T |
possibly damaging |
Het |
Cyp2c54 |
G |
T |
19: 40,034,699 (GRCm39) |
Q324K |
possibly damaging |
Het |
Dcpp2 |
T |
A |
17: 24,119,547 (GRCm39) |
Y120* |
probably null |
Het |
Ddx11 |
C |
T |
17: 66,441,125 (GRCm39) |
R242W |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,272,871 (GRCm39) |
V2333E |
possibly damaging |
Het |
Duxf4 |
T |
A |
10: 58,071,623 (GRCm39) |
N197I |
possibly damaging |
Het |
Eno3 |
T |
A |
11: 70,552,237 (GRCm39) |
F296L |
probably damaging |
Het |
Flnc |
G |
A |
6: 29,442,940 (GRCm39) |
V492M |
probably damaging |
Het |
Gdap1 |
T |
G |
1: 17,230,131 (GRCm39) |
|
probably benign |
Het |
Gm1587 |
C |
T |
14: 78,032,283 (GRCm39) |
E118K |
unknown |
Het |
Gprin3 |
T |
C |
6: 59,331,545 (GRCm39) |
E254G |
possibly damaging |
Het |
Hcrt |
G |
A |
11: 100,652,679 (GRCm39) |
R112C |
probably damaging |
Het |
Hoxa4 |
A |
T |
6: 52,167,657 (GRCm39) |
Y175N |
probably benign |
Het |
Hydin |
G |
A |
8: 111,118,957 (GRCm39) |
G504R |
probably damaging |
Het |
Il1rl1 |
A |
G |
1: 40,485,823 (GRCm39) |
R325G |
possibly damaging |
Het |
Kcp |
A |
T |
6: 29,484,636 (GRCm39) |
L1314Q |
probably damaging |
Het |
Kdm5b |
C |
T |
1: 134,559,042 (GRCm39) |
P1522L |
possibly damaging |
Het |
Kmt2d |
T |
G |
15: 98,743,927 (GRCm39) |
|
probably benign |
Het |
Map3k20 |
C |
T |
2: 72,268,571 (GRCm39) |
T526I |
probably damaging |
Het |
Mfap2 |
A |
G |
4: 140,741,554 (GRCm39) |
Q71R |
possibly damaging |
Het |
Mme |
T |
A |
3: 63,235,485 (GRCm39) |
Y178N |
probably damaging |
Het |
Msr1 |
A |
G |
8: 40,073,059 (GRCm39) |
V164A |
possibly damaging |
Het |
Mybbp1a |
T |
C |
11: 72,337,996 (GRCm39) |
V646A |
probably damaging |
Het |
Mybpc3 |
A |
T |
2: 90,965,714 (GRCm39) |
K1175N |
probably benign |
Het |
Myo1c |
T |
A |
11: 75,552,325 (GRCm39) |
L366Q |
probably benign |
Het |
Or12d15 |
T |
C |
17: 37,694,289 (GRCm39) |
V277A |
possibly damaging |
Het |
Or1e22 |
A |
G |
11: 73,376,961 (GRCm39) |
S230P |
possibly damaging |
Het |
Or6f1 |
A |
G |
7: 85,970,942 (GRCm39) |
Y73H |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,717,472 (GRCm39) |
T342A |
probably benign |
Het |
Pde4d |
A |
G |
13: 109,876,940 (GRCm39) |
T29A |
probably benign |
Het |
Rapgef5 |
A |
G |
12: 117,692,405 (GRCm39) |
E563G |
possibly damaging |
Het |
Rdh19 |
A |
G |
10: 127,686,017 (GRCm39) |
N43S |
probably benign |
Het |
Rnf44 |
A |
C |
13: 54,830,961 (GRCm39) |
S98R |
probably damaging |
Het |
Scn4a |
G |
T |
11: 106,238,644 (GRCm39) |
N214K |
probably damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,073,591 (GRCm39) |
N813S |
probably benign |
Het |
Sirt3 |
A |
T |
7: 140,458,025 (GRCm39) |
C41* |
probably null |
Het |
Speg |
C |
A |
1: 75,399,191 (GRCm39) |
P2213T |
probably benign |
Het |
Srcin1 |
T |
G |
11: 97,416,379 (GRCm39) |
E951A |
probably damaging |
Het |
Syn2 |
C |
G |
6: 115,214,259 (GRCm39) |
T161S |
probably benign |
Het |
Tbc1d4 |
T |
C |
14: 101,744,649 (GRCm39) |
T326A |
probably benign |
Het |
Tcstv2a |
G |
T |
13: 120,725,815 (GRCm39) |
A160S |
possibly damaging |
Het |
Tes |
T |
A |
6: 17,099,700 (GRCm39) |
|
probably null |
Het |
Thoc2l |
T |
C |
5: 104,668,889 (GRCm39) |
V1137A |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,553,030 (GRCm39) |
T354A |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,632,705 (GRCm39) |
S12370R |
possibly damaging |
Het |
Twsg1 |
T |
C |
17: 66,236,758 (GRCm39) |
T91A |
probably benign |
Het |
Vmn1r181 |
C |
T |
7: 23,684,234 (GRCm39) |
T233I |
probably benign |
Het |
Wee2 |
A |
T |
6: 40,432,175 (GRCm39) |
N248I |
possibly damaging |
Het |
Zfp740 |
G |
T |
15: 102,116,678 (GRCm39) |
C56F |
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 |
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'- CCTTACCCGAGACTGTGTTC -3'
(R):5'- AGGCAAACACCATTAGCGTATC -3'
Sequencing Primer
(F):5'- TTACCCGAGACTGTGTTCGAAGC -3'
(R):5'- ACACCATTAGCGTATCAACTTTTTC -3'
|
Posted On |
2015-12-17 |