Incidental Mutation 'IGL02245:Samhd1'
| ID |
286160 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Samhd1
|
| Ensembl Gene |
ENSMUSG00000027639 |
| Gene Name |
SAM domain and HD domain, 1 |
| Synonyms |
E330031J07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02245
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
156939454-156977016 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 156952475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 426
(D426N)
|
| 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: D426N
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059717
Gene: ENSMUSG00000027639
AA Change: D426N
| 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: D426N
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000085880
Gene: ENSMUSG00000027639
AA Change: D426N
| 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: D426N
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105176
Gene: ENSMUSG00000027639
AA Change: D426N
| 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: D405N
|
| SMART Domains |
Protein: ENSMUSP00000124935
Gene: ENSMUSG00000027639
AA Change: D405N
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,772 (GRCm39) |
I1398V |
probably benign |
Het |
| Abca5 |
G |
A |
11: 110,188,995 (GRCm39) |
Q821* |
probably null |
Het |
| Bcl9 |
A |
T |
3: 97,116,009 (GRCm39) |
L895Q |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,844,357 (GRCm39) |
D41G |
probably damaging |
Het |
| Daxx |
A |
G |
17: 34,131,351 (GRCm39) |
|
probably benign |
Het |
| Dbx2 |
A |
G |
15: 95,522,628 (GRCm39) |
Y360H |
probably damaging |
Het |
| Dpy19l2 |
T |
C |
9: 24,607,321 (GRCm39) |
T47A |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,040,174 (GRCm39) |
V512A |
probably benign |
Het |
| Exoc2 |
T |
C |
13: 31,090,842 (GRCm39) |
D254G |
probably benign |
Het |
| Gtpbp1 |
G |
T |
15: 79,575,127 (GRCm39) |
R7L |
probably benign |
Het |
| Gucy2c |
A |
T |
6: 136,706,201 (GRCm39) |
I500N |
probably benign |
Het |
| H2ac6 |
A |
T |
13: 23,867,783 (GRCm39) |
Y40N |
probably damaging |
Het |
| H2ac6 |
G |
T |
13: 23,867,784 (GRCm39) |
N39K |
possibly damaging |
Het |
| Hormad2 |
T |
C |
11: 4,358,580 (GRCm39) |
|
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,089,445 (GRCm39) |
Q1130R |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,150,903 (GRCm39) |
D836E |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,427,797 (GRCm39) |
T456S |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,568,036 (GRCm39) |
T1562A |
unknown |
Het |
| Mre11a |
C |
T |
9: 14,726,572 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
A |
C |
11: 67,102,313 (GRCm39) |
E868A |
possibly damaging |
Het |
| Nlrp4e |
T |
G |
7: 23,020,300 (GRCm39) |
S262R |
probably damaging |
Het |
| Nlrp9a |
C |
T |
7: 26,257,318 (GRCm39) |
T223I |
probably benign |
Het |
| Nosip |
A |
G |
7: 44,723,466 (GRCm39) |
D44G |
probably benign |
Het |
| Nr6a1 |
C |
T |
2: 38,630,565 (GRCm39) |
M217I |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,649,601 (GRCm39) |
T1111A |
probably benign |
Het |
| Or6c6c |
T |
A |
10: 129,541,608 (GRCm39) |
I287N |
probably damaging |
Het |
| Pms1 |
A |
G |
1: 53,246,519 (GRCm39) |
L340P |
probably damaging |
Het |
| Prmt7 |
T |
C |
8: 106,963,937 (GRCm39) |
V277A |
probably benign |
Het |
| Pxmp4 |
T |
C |
2: 154,429,870 (GRCm39) |
Y173C |
probably damaging |
Het |
| Rbm11 |
G |
T |
16: 75,389,896 (GRCm39) |
V21L |
possibly damaging |
Het |
| Rims1 |
A |
G |
1: 22,416,712 (GRCm39) |
S1123P |
probably damaging |
Het |
| Rnf220 |
C |
T |
4: 117,156,734 (GRCm39) |
|
probably benign |
Het |
| Rnf41 |
T |
G |
10: 128,273,196 (GRCm39) |
*123G |
probably null |
Het |
| Scn10a |
A |
G |
9: 119,501,218 (GRCm39) |
W189R |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,055,150 (GRCm39) |
F265L |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,897,661 (GRCm39) |
D137G |
probably benign |
Het |
| Srsf12 |
G |
A |
4: 33,209,103 (GRCm39) |
|
probably benign |
Het |
| Suclg2 |
A |
G |
6: 95,572,722 (GRCm39) |
I81T |
possibly damaging |
Het |
| Tmc1 |
C |
T |
19: 20,776,556 (GRCm39) |
R601H |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,254,086 (GRCm39) |
|
probably null |
Het |
| Vit |
A |
G |
17: 78,932,480 (GRCm39) |
D529G |
probably damaging |
Het |
| Wbp1l |
C |
T |
19: 46,643,057 (GRCm39) |
H353Y |
possibly damaging |
Het |
| Wdr70 |
A |
T |
15: 8,075,965 (GRCm39) |
V170D |
possibly damaging |
Het |
| Ythdc2 |
T |
A |
18: 44,995,751 (GRCm39) |
I947N |
possibly damaging |
Het |
| Zfp280b |
T |
C |
10: 75,875,197 (GRCm39) |
S359P |
probably benign |
Het |
| Zfp936 |
T |
C |
7: 42,836,722 (GRCm39) |
|
probably null |
Het |
| Zscan4d |
T |
A |
7: 10,896,716 (GRCm39) |
Y218F |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation