Incidental Mutation 'R7596:Samhd1'
| ID |
587708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samhd1
|
| Ensembl Gene |
ENSMUSG00000027639 |
| Gene Name |
SAM domain and HD domain, 1 |
| Synonyms |
E330031J07Rik |
| MMRRC Submission |
045671-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7596 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156939454-156977016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156943754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 587
(F587I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059717
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057725]
[ENSMUST00000088523]
[ENSMUST00000109549]
[ENSMUST00000123932]
|
| AlphaFold |
Q60710 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057725
AA Change: F587I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: F587I
| 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: F587I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: F587I
| 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
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: F566I
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (53/56) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
G |
A |
16: 88,556,224 (GRCm39) |
S146N |
probably damaging |
Het |
| Adam26b |
A |
C |
8: 43,973,237 (GRCm39) |
D588E |
probably benign |
Het |
| Ankrd13b |
C |
A |
11: 77,363,140 (GRCm39) |
R547L |
probably benign |
Het |
| Bckdk |
G |
T |
7: 127,505,572 (GRCm39) |
E232* |
probably null |
Het |
| C8a |
T |
C |
4: 104,711,064 (GRCm39) |
K244E |
possibly damaging |
Het |
| Cad |
A |
G |
5: 31,226,392 (GRCm39) |
I1145V |
probably benign |
Het |
| Cd28 |
C |
A |
1: 60,802,487 (GRCm39) |
H135Q |
possibly damaging |
Het |
| Ceacam19 |
A |
G |
7: 19,615,812 (GRCm39) |
I209T |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,739,167 (GRCm39) |
N1298S |
probably benign |
Het |
| Cpne5 |
C |
T |
17: 29,445,191 (GRCm39) |
D38N |
possibly damaging |
Het |
| Dcn |
A |
T |
10: 97,345,871 (GRCm39) |
I228F |
probably damaging |
Het |
| Gm5591 |
T |
G |
7: 38,219,608 (GRCm39) |
I422L |
probably benign |
Het |
| Gnptab |
T |
G |
10: 88,279,232 (GRCm39) |
F1201V |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,890,859 (GRCm39) |
V1319A |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,847,361 (GRCm39) |
N385D |
probably benign |
Het |
| Ikbip |
A |
T |
10: 90,918,891 (GRCm39) |
|
probably benign |
Het |
| Kcnk1 |
T |
C |
8: 126,722,350 (GRCm39) |
L51P |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,275,721 (GRCm39) |
Y160H |
probably damaging |
Het |
| Lig1 |
T |
C |
7: 13,039,923 (GRCm39) |
S712P |
probably damaging |
Het |
| Lrrc19 |
T |
G |
4: 94,531,592 (GRCm39) |
M7L |
probably benign |
Het |
| Lrrc4b |
C |
T |
7: 44,111,310 (GRCm39) |
T394M |
probably damaging |
Het |
| Map7 |
A |
G |
10: 20,153,927 (GRCm39) |
N681S |
unknown |
Het |
| Mdga2 |
A |
T |
12: 66,552,897 (GRCm39) |
M912K |
probably damaging |
Het |
| Mlst8 |
C |
T |
17: 24,697,084 (GRCm39) |
|
probably null |
Het |
| Ms4a13 |
A |
T |
19: 11,147,329 (GRCm39) |
V195D |
unknown |
Het |
| Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
| Nr4a2 |
G |
C |
2: 56,998,243 (GRCm39) |
F574L |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,613,065 (GRCm39) |
N288D |
probably damaging |
Het |
| Or11g26 |
A |
T |
14: 50,753,002 (GRCm39) |
T114S |
probably benign |
Het |
| Or13a1 |
T |
A |
6: 116,471,158 (GRCm39) |
V196D |
probably benign |
Het |
| Or5b3 |
C |
T |
19: 13,388,511 (GRCm39) |
H193Y |
probably benign |
Het |
| Pcolce |
A |
G |
5: 137,605,087 (GRCm39) |
|
probably null |
Het |
| Pik3cg |
A |
G |
12: 32,254,740 (GRCm39) |
F416L |
probably damaging |
Het |
| Podnl1 |
A |
G |
8: 84,853,024 (GRCm39) |
I65V |
|
Het |
| Prpf8 |
T |
C |
11: 75,382,330 (GRCm39) |
F387S |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,697,534 (GRCm39) |
Y677C |
probably damaging |
Het |
| Rhpn1 |
A |
G |
15: 75,584,162 (GRCm39) |
T430A |
probably benign |
Het |
| Rnf187 |
T |
C |
11: 58,829,241 (GRCm39) |
R124G |
possibly damaging |
Het |
| Rpl9-ps6 |
C |
T |
19: 32,443,783 (GRCm39) |
V57I |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,722,664 (GRCm39) |
T244A |
probably benign |
Het |
| Slc35f4 |
T |
A |
14: 49,543,666 (GRCm39) |
Y310F |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,318,662 (GRCm39) |
Y648C |
probably damaging |
Het |
| Smc5 |
A |
C |
19: 23,191,533 (GRCm39) |
V889G |
probably damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Spopfm2 |
T |
A |
3: 94,083,737 (GRCm39) |
T25S |
probably benign |
Het |
| Tango2 |
A |
G |
16: 18,120,574 (GRCm39) |
V229A |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,893,057 (GRCm39) |
T995A |
probably benign |
Het |
| Trio |
A |
T |
15: 27,749,912 (GRCm39) |
I2263N |
probably damaging |
Het |
| Ttc28 |
T |
C |
5: 111,427,990 (GRCm39) |
F1829L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,638,923 (GRCm39) |
S13920P |
probably damaging |
Het |
| Ube2b |
T |
C |
11: 51,877,570 (GRCm39) |
N133S |
probably damaging |
Het |
| Ubn1 |
T |
A |
16: 4,899,422 (GRCm39) |
H1055Q |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,197,533 (GRCm39) |
T705M |
unknown |
Het |
| Vmn2r109 |
A |
T |
17: 20,760,942 (GRCm39) |
M805K |
probably damaging |
Het |
| Vsig10 |
T |
C |
5: 117,472,848 (GRCm39) |
V147A |
possibly damaging |
Het |
| Zbtb16 |
C |
A |
9: 48,743,704 (GRCm39) |
V203L |
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 |
|
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 |
|
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'- CTTTCGGGCTTTCCTTAAAGATTG -3'
(R):5'- GCGCAGTGCTTTTAACTCAAC -3'
Sequencing Primer
(F):5'- TACACTCGCATCTTGGGAAG -3'
(R):5'- GTTCTTGGCAGAGTGAAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation