Incidental Mutation 'R6924:Samhd1'
| ID |
539773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samhd1
|
| Ensembl Gene |
ENSMUSG00000027639 |
| Gene Name |
SAM domain and HD domain, 1 |
| Synonyms |
E330031J07Rik |
| MMRRC Submission |
045042-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6924 (G1)
|
| Quality Score |
219.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
156939454-156977016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 156951403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 445
(T445A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057725]
[ENSMUST00000088523]
[ENSMUST00000109549]
[ENSMUST00000123932]
|
| AlphaFold |
Q60710 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057725
AA Change: T445A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: T445A
| 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: T445A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: T445A
| 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: T445A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639
AA Change: T445A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: T424A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
C |
4: 39,450,884 (GRCm39) |
H30P |
probably damaging |
Het |
| Abhd6 |
A |
T |
14: 8,049,850 (GRCm38) |
H213L |
possibly damaging |
Het |
| Adam22 |
T |
A |
5: 8,417,322 (GRCm39) |
N40I |
possibly damaging |
Het |
| Ankrd42 |
A |
G |
7: 92,231,224 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
C |
T |
2: 158,369,066 (GRCm39) |
R63C |
probably benign |
Het |
| Atf7ip |
T |
G |
6: 136,536,755 (GRCm39) |
|
probably null |
Het |
| Atg7 |
T |
C |
6: 114,686,172 (GRCm39) |
|
probably null |
Het |
| Car6 |
A |
C |
4: 150,273,713 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,259,667 (GRCm39) |
C302* |
probably null |
Het |
| Ccdc117 |
A |
T |
11: 5,484,255 (GRCm39) |
M195K |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,702,023 (GRCm39) |
M383T |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,638,643 (GRCm39) |
E419G |
probably damaging |
Het |
| Cyp2d9 |
C |
G |
15: 82,339,413 (GRCm39) |
R272G |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,546,244 (GRCm39) |
M1380K |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,455,517 (GRCm39) |
S881G |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,793,248 (GRCm39) |
I1084N |
probably benign |
Het |
| Fgf17 |
A |
T |
14: 70,878,981 (GRCm39) |
C21* |
probably null |
Het |
| Gemin4 |
A |
G |
11: 76,103,162 (GRCm39) |
L533P |
probably damaging |
Het |
| Gkn3 |
T |
C |
6: 87,365,784 (GRCm39) |
R12G |
probably benign |
Het |
| Gpr161 |
G |
T |
1: 165,149,188 (GRCm39) |
R519L |
possibly damaging |
Het |
| Grin2a |
A |
G |
16: 9,481,092 (GRCm39) |
V535A |
possibly damaging |
Het |
| Gys1 |
G |
A |
7: 45,093,059 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
C |
T |
5: 106,998,276 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,240,517 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,808,873 (GRCm39) |
Y738H |
unknown |
Het |
| Hycc1 |
T |
C |
5: 24,191,133 (GRCm39) |
|
probably null |
Het |
| Igsf23 |
A |
G |
7: 19,675,684 (GRCm39) |
S141P |
possibly damaging |
Het |
| Lamc3 |
A |
C |
2: 31,828,081 (GRCm39) |
M1423L |
probably benign |
Het |
| Lcmt2 |
T |
C |
2: 120,970,484 (GRCm39) |
T200A |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,784 (GRCm39) |
V899A |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,421,145 (GRCm39) |
R36S |
possibly damaging |
Het |
| Mrgprb8 |
A |
G |
7: 48,038,871 (GRCm39) |
K181E |
possibly damaging |
Het |
| Muc2 |
G |
A |
7: 141,284,077 (GRCm39) |
V786M |
possibly damaging |
Het |
| Nacc2 |
T |
C |
2: 25,980,041 (GRCm39) |
T132A |
probably damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,250,774 (GRCm39) |
I15K |
probably damaging |
Het |
| Or10p22 |
T |
G |
10: 128,825,960 (GRCm39) |
Y60D |
probably damaging |
Het |
| Or4k15c |
A |
G |
14: 50,321,307 (GRCm39) |
I277T |
possibly damaging |
Het |
| Otoa |
A |
T |
7: 120,730,724 (GRCm39) |
|
probably null |
Het |
| Otogl |
A |
G |
10: 107,644,502 (GRCm39) |
I1248T |
probably damaging |
Het |
| Ppp1r17 |
T |
A |
6: 56,003,007 (GRCm39) |
D32E |
probably damaging |
Het |
| Relt |
A |
C |
7: 100,496,468 (GRCm39) |
V427G |
probably damaging |
Het |
| Ric1 |
T |
A |
19: 29,546,788 (GRCm39) |
V256D |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,821,646 (GRCm39) |
I189V |
probably benign |
Het |
| Shroom3 |
T |
A |
5: 93,112,262 (GRCm39) |
D1793E |
probably damaging |
Het |
| Sim1 |
C |
T |
10: 50,784,635 (GRCm39) |
T137I |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,800,218 (GRCm39) |
D253E |
possibly damaging |
Het |
| Stmnd1 |
T |
C |
13: 46,452,969 (GRCm39) |
V215A |
probably benign |
Het |
| Tcl1 |
A |
G |
12: 105,185,015 (GRCm39) |
L65P |
probably damaging |
Het |
| Tiam2 |
A |
C |
17: 3,558,070 (GRCm39) |
K1231N |
probably damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,206,717 (GRCm39) |
Y476C |
probably damaging |
Het |
| Trim63 |
T |
C |
4: 134,048,572 (GRCm39) |
S194P |
probably damaging |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,379 (GRCm39) |
I59N |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,613,198 (GRCm39) |
F7S |
probably benign |
Het |
| Zfp775 |
T |
A |
6: 48,596,589 (GRCm39) |
H154Q |
probably damaging |
Het |
| Zfp804b |
C |
T |
5: 6,819,902 (GRCm39) |
V1018I |
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 |
|
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'- TGATACCCTAGCAACCTTTCAGC -3'
(R):5'- TGCAACTCACGGTCATACAC -3'
Sequencing Primer
(F):5'- TGACTTAGCGCTCAGTGC -3'
(R):5'- ACGGTCATACACAGTAGTCTTTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation