Incidental Mutation 'R6021:Samhd1'
| ID |
478921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samhd1
|
| Ensembl Gene |
ENSMUSG00000027639 |
| Gene Name |
SAM domain and HD domain, 1 |
| Synonyms |
E330031J07Rik |
| MMRRC Submission |
044194-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156939454-156977016 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 156962474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057725]
[ENSMUST00000057725]
[ENSMUST00000088523]
[ENSMUST00000088523]
[ENSMUST00000088523]
[ENSMUST00000088523]
[ENSMUST00000109549]
[ENSMUST00000109549]
[ENSMUST00000123932]
[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: 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: 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: 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: 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 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 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 |
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152866
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
| Validation Efficiency |
94% (61/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
G |
4: 123,754,509 (GRCm39) |
D141G |
possibly damaging |
Het |
| A1bg |
T |
C |
15: 60,791,713 (GRCm39) |
E241G |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,240,465 (GRCm39) |
W776* |
probably null |
Het |
| Akr1b10 |
T |
A |
6: 34,369,309 (GRCm39) |
|
probably null |
Het |
| Aopep |
A |
G |
13: 63,208,896 (GRCm39) |
T338A |
probably damaging |
Het |
| Atf7 |
T |
C |
15: 102,465,908 (GRCm39) |
D84G |
probably benign |
Het |
| AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
| Azi2 |
T |
A |
9: 117,876,487 (GRCm39) |
M1K |
probably null |
Het |
| Boc |
T |
A |
16: 44,309,017 (GRCm39) |
M832L |
probably benign |
Het |
| Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,034,225 (GRCm39) |
L1050P |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,308,561 (GRCm39) |
P1789T |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,903,282 (GRCm39) |
R1986C |
probably damaging |
Het |
| Crtam |
T |
A |
9: 40,901,477 (GRCm39) |
I150F |
probably damaging |
Het |
| Crybg1 |
G |
T |
10: 43,873,534 (GRCm39) |
S1191R |
probably damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,167,552 (GRCm39) |
T1017A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,814,048 (GRCm39) |
E396G |
probably damaging |
Het |
| Enpp5 |
A |
T |
17: 44,396,210 (GRCm39) |
Y374F |
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,056,942 (GRCm39) |
A330T |
probably benign |
Het |
| Gabra5 |
A |
G |
7: 57,157,740 (GRCm39) |
S25P |
probably benign |
Het |
| Get1 |
T |
C |
16: 95,946,878 (GRCm39) |
|
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,589 (GRCm39) |
Y198C |
probably damaging |
Het |
| Gm3173 |
A |
C |
14: 15,728,458 (GRCm39) |
D39A |
probably damaging |
Het |
| Grm2 |
T |
C |
9: 106,527,999 (GRCm39) |
D295G |
probably damaging |
Het |
| H2-T13 |
T |
G |
17: 36,392,166 (GRCm39) |
E182A |
probably damaging |
Het |
| Igfbp5 |
A |
G |
1: 72,902,363 (GRCm39) |
M208T |
possibly damaging |
Het |
| Ildr2 |
T |
A |
1: 166,131,173 (GRCm39) |
M343K |
possibly damaging |
Het |
| Kif19b |
A |
T |
5: 140,455,434 (GRCm39) |
M347L |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,499,946 (GRCm39) |
D120V |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,413,883 (GRCm39) |
D1175G |
probably damaging |
Het |
| Lrp1b |
C |
A |
2: 41,234,439 (GRCm39) |
D1171Y |
probably benign |
Het |
| Lrrc9 |
A |
T |
12: 72,516,005 (GRCm39) |
I563F |
probably damaging |
Het |
| Ltbp3 |
A |
T |
19: 5,803,708 (GRCm39) |
T798S |
probably benign |
Het |
| Msantd4 |
T |
A |
9: 4,384,063 (GRCm39) |
V128E |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,229,003 (GRCm39) |
I69V |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,699,688 (GRCm39) |
S1712T |
possibly damaging |
Het |
| Mylk3 |
A |
G |
8: 86,091,442 (GRCm39) |
V121A |
possibly damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,901,760 (GRCm39) |
N100D |
probably benign |
Het |
| Notch2 |
T |
C |
3: 98,029,288 (GRCm39) |
F1017S |
probably damaging |
Het |
| Or4a27 |
G |
T |
2: 88,559,294 (GRCm39) |
Y216* |
probably null |
Het |
| Or4a80 |
A |
C |
2: 89,582,465 (GRCm39) |
S236A |
probably benign |
Het |
| Or4c108 |
G |
T |
2: 88,803,376 (GRCm39) |
Y286* |
probably null |
Het |
| P2ry2 |
T |
C |
7: 100,647,607 (GRCm39) |
T233A |
probably benign |
Het |
| Paip1 |
T |
"TTA,TT" |
13: 119,593,671 (GRCm39) |
|
probably null |
Het |
| Pak1 |
T |
C |
7: 97,503,670 (GRCm39) |
S2P |
probably damaging |
Het |
| Pde8b |
A |
T |
13: 95,162,670 (GRCm39) |
D817E |
possibly damaging |
Het |
| Pfdn2 |
C |
A |
1: 171,173,338 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
A |
T |
4: 143,692,336 (GRCm39) |
C222S |
probably benign |
Het |
| Raver1 |
A |
G |
9: 20,987,918 (GRCm39) |
L606P |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,333,829 (GRCm39) |
W668* |
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
A |
G |
5: 149,987,202 (GRCm39) |
N337S |
possibly damaging |
Het |
| Sardh |
A |
G |
2: 27,079,655 (GRCm39) |
V879A |
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,188,261 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
T |
C |
6: 114,207,012 (GRCm39) |
L332P |
probably damaging |
Het |
| Tas2r135 |
T |
C |
6: 42,383,321 (GRCm39) |
Y287H |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,759,103 (GRCm39) |
I632N |
probably damaging |
Het |
| Tmem145 |
C |
T |
7: 25,008,270 (GRCm39) |
|
probably null |
Het |
| Trmt61a |
C |
A |
12: 111,647,411 (GRCm39) |
F169L |
probably damaging |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,391 (GRCm39) |
I95L |
probably benign |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,616 (GRCm39) |
E176G |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,820,820 (GRCm39) |
D38G |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,598,210 (GRCm39) |
Y78C |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,742 (GRCm39) |
S114I |
unknown |
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 |
|
|
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'- CCAGGGAAGGATGCTACAAC -3'
(R):5'- GACCAATCCAAGCAGTGTTAAC -3'
Sequencing Primer
(F):5'- CACACAGAAGGAAACAGATCTTAG -3'
(R):5'- GCAGTGTTAACTTTCCAATATGGCC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation