Incidental Mutation 'V7732:Sarm1'
| ID |
44045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sarm1
|
| Ensembl Gene |
ENSMUSG00000050132 |
| Gene Name |
sterile alpha and HEAT/Armadillo motif containing 1 |
| Synonyms |
MyD88-5, A830091I15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
V7732 ()
of strain
may
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
11 |
| Chromosomal Location |
78363156-78388580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78378891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 385
(T385S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061174]
[ENSMUST00000108287]
|
| AlphaFold |
Q6PDS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061174
AA Change: T385S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000051059
Gene: ENSMUSG00000050132
AA Change: T385S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
339 |
N/A |
INTRINSIC |
|
SAM
|
409 |
476 |
1.46e-19 |
SMART |
|
SAM
|
479 |
548 |
9.5e-10 |
SMART |
|
TIR
|
561 |
702 |
6.73e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108287
AA Change: T385S
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103922
Gene: ENSMUSG00000050132
AA Change: T385S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
93 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
133 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
339 |
N/A |
INTRINSIC |
|
SAM
|
409 |
476 |
1.46e-19 |
SMART |
|
SAM
|
479 |
548 |
2.15e-8 |
SMART |
|
TIR
|
601 |
742 |
6.73e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153534
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170674
|
| Meta Mutation Damage Score |
0.1116 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.9%
- 20x: 90.3%
|
| Validation Efficiency |
96% (25/26) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit reduced apoptosis induced by oxygen and glucose deprivation in hippocampal slices. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy5 |
T |
C |
16: 35,103,911 (GRCm39) |
F793L |
probably benign |
Het |
| Atmin |
C |
T |
8: 117,683,218 (GRCm39) |
P293S |
probably damaging |
Het |
| Card11 |
G |
A |
5: 140,862,250 (GRCm39) |
R1016* |
probably null |
Het |
| Cep89 |
A |
G |
7: 35,102,523 (GRCm39) |
S79G |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,991,670 (GRCm39) |
V2227A |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,412 (GRCm39) |
V534A |
probably damaging |
Het |
| Dpep2 |
T |
A |
8: 106,715,892 (GRCm39) |
H124L |
probably damaging |
Het |
| Elfn1 |
G |
A |
5: 139,957,194 (GRCm39) |
R66Q |
probably damaging |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Ggh |
T |
A |
4: 20,046,225 (GRCm39) |
F44L |
probably benign |
Het |
| Gpr37 |
T |
C |
6: 25,669,122 (GRCm39) |
Y574C |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,952,107 (GRCm39) |
A1178S |
possibly damaging |
Het |
| Igsf9 |
A |
G |
1: 172,317,960 (GRCm39) |
T106A |
probably benign |
Het |
| Itpr3 |
G |
C |
17: 27,330,000 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
G |
T |
17: 27,329,998 (GRCm39) |
|
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,506,561 (GRCm39) |
|
probably benign |
Het |
| Rabac1 |
T |
A |
7: 24,671,644 (GRCm39) |
Q51L |
probably damaging |
Het |
| Rgma |
A |
G |
7: 73,067,068 (GRCm39) |
T108A |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Spata17 |
T |
C |
1: 186,780,677 (GRCm39) |
T357A |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,251,368 (GRCm39) |
I711V |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,378,172 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sarm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01476:Sarm1
|
APN |
11 |
78,381,637 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01484:Sarm1
|
APN |
11 |
78,381,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02591:Sarm1
|
APN |
11 |
78,378,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Sarm1
|
UTSW |
11 |
78,378,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0282:Sarm1
|
UTSW |
11 |
78,365,806 (GRCm39) |
nonsense |
probably null |
|
|
R1583:Sarm1
|
UTSW |
11 |
78,374,153 (GRCm39) |
nonsense |
probably null |
|
|
R1800:Sarm1
|
UTSW |
11 |
78,381,820 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2101:Sarm1
|
UTSW |
11 |
78,366,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Sarm1
|
UTSW |
11 |
78,366,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4474:Sarm1
|
UTSW |
11 |
78,387,927 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5191:Sarm1
|
UTSW |
11 |
78,387,945 (GRCm39) |
nonsense |
probably null |
|
|
R5280:Sarm1
|
UTSW |
11 |
78,374,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Sarm1
|
UTSW |
11 |
78,388,265 (GRCm39) |
missense |
probably benign |
|
|
R5954:Sarm1
|
UTSW |
11 |
78,381,428 (GRCm39) |
nonsense |
probably null |
|
|
R6027:Sarm1
|
UTSW |
11 |
78,374,384 (GRCm39) |
missense |
probably benign |
|
|
R7343:Sarm1
|
UTSW |
11 |
78,388,083 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8414:Sarm1
|
UTSW |
11 |
78,378,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9075:Sarm1
|
UTSW |
11 |
78,374,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9533:Sarm1
|
UTSW |
11 |
78,373,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Sarm1
|
UTSW |
11 |
78,365,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9788:Sarm1
|
UTSW |
11 |
78,378,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCTACCCGAAAGTTCTCGCAG -3'
(R):5'- ACCAACTGGAGGTGTGGACCAAAC -3'
Sequencing Primer
(F):5'- GTACTGGGAGAAGCCGATCTG -3'
(R):5'- CCGGATTCCCATGAAGTAGTG -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation