Incidental Mutation 'R4474:Sarm1'
| ID |
330493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sarm1
|
| Ensembl Gene |
ENSMUSG00000050132 |
| Gene Name |
sterile alpha and HEAT/Armadillo motif containing 1 |
| Synonyms |
MyD88-5, A830091I15Rik |
| MMRRC Submission |
041731-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.279)
|
| Stock # |
R4474 (G1)
|
| Quality Score |
213 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78363156-78388580 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78387927 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 120
(I120L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103922
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017488]
[ENSMUST00000061174]
[ENSMUST00000108287]
|
| AlphaFold |
Q6PDS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017488
|
| SMART Domains |
Protein: ENSMUSP00000017488
Gene: ENSMUSG00000017344
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SO
|
20 |
62 |
2.45e-13 |
SMART |
|
HX
|
160 |
203 |
7.81e-8 |
SMART |
|
HX
|
205 |
251 |
2.46e-14 |
SMART |
|
HX
|
253 |
303 |
9.19e-5 |
SMART |
|
low complexity region
|
358 |
400 |
N/A |
INTRINSIC |
|
HX
|
426 |
473 |
1.59e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061174
AA Change: I120L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000051059
Gene: ENSMUSG00000050132
AA Change: I120L
| 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: I120L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000103922
Gene: ENSMUSG00000050132
AA Change: I120L
| 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: ENSMUST00000128479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153628
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
95% (36/38) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,124,598 (GRCm39) |
I397K |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,146,865 (GRCm39) |
A2795D |
probably damaging |
Het |
| Cdk19 |
G |
A |
10: 40,345,952 (GRCm39) |
|
probably null |
Het |
| Cep104 |
T |
A |
4: 154,073,693 (GRCm39) |
M476K |
possibly damaging |
Het |
| Csf1 |
T |
C |
3: 107,661,172 (GRCm39) |
D115G |
probably damaging |
Het |
| Dclre1b |
C |
A |
3: 103,714,559 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
A |
G |
13: 63,023,075 (GRCm39) |
L74P |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,290,497 (GRCm39) |
V3319L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,126,352 (GRCm39) |
N362S |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,967,631 (GRCm39) |
|
probably null |
Het |
| Lingo2 |
T |
C |
4: 35,708,810 (GRCm39) |
E390G |
probably benign |
Het |
| Mdh1 |
T |
G |
11: 21,516,624 (GRCm39) |
D33A |
possibly damaging |
Het |
| Mov10 |
C |
T |
3: 104,725,781 (GRCm39) |
G21D |
probably damaging |
Het |
| Muc21 |
G |
T |
17: 35,931,496 (GRCm39) |
|
probably benign |
Het |
| Or4f56 |
G |
A |
2: 111,703,784 (GRCm39) |
R139W |
possibly damaging |
Het |
| Or7g32 |
T |
A |
9: 19,408,173 (GRCm39) |
L43Q |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,610,749 (GRCm39) |
Y332N |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,325,956 (GRCm39) |
S763G |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,546,256 (GRCm39) |
|
probably benign |
Het |
| Tmem150a |
C |
T |
6: 72,334,035 (GRCm39) |
S39F |
probably benign |
Het |
| Tsc2 |
T |
A |
17: 24,816,238 (GRCm39) |
H1605L |
probably damaging |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,507 (GRCm39) |
L820P |
probably damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,924 (GRCm39) |
N97D |
possibly damaging |
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 |
|
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 |
|
V7732:Sarm1
|
UTSW |
11 |
78,378,891 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTTAGGGCAAAATCAGC -3'
(R):5'- GCTTCTTCACCATGTCAGGC -3'
Sequencing Primer
(F):5'- CTTAGGGCAAAATCAGCAATGG -3'
(R):5'- TTCACCATGTCAGGCCCACG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation