Incidental Mutation 'IGL01484:Sarm1'
ID88871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sarm1
Ensembl Gene ENSMUSG00000050132
Gene Namesterile alpha and HEAT/Armadillo motif containing 1
SynonymsA830091I15Rik, MyD88-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.223) question?
Stock #IGL01484
Quality Score
Status
Chromosome11
Chromosomal Location78472330-78497754 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 78491013 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 215 (C215S)
Ref Sequence ENSEMBL: ENSMUSP00000103922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061174] [ENSMUST00000108287]
Predicted Effect probably damaging
Transcript: ENSMUST00000061174
AA Change: C215S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051059
Gene: ENSMUSG00000050132
AA Change: C215S

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000108287
AA Change: C215S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103922
Gene: ENSMUSG00000050132
AA Change: C215S

DomainStartEndE-ValueType
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: ENSMUST00000170674
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,629,006 H90R possibly damaging Het
Arsj A G 3: 126,365,036 D88G probably damaging Het
Clca4b C T 3: 144,928,235 V140I probably benign Het
Dagla A C 19: 10,248,520 L760R possibly damaging Het
Dnah1 T C 14: 31,299,940 E1202G probably damaging Het
Hdac9 T C 12: 34,437,165 H100R probably damaging Het
Hhip T C 8: 79,996,783 H414R probably damaging Het
Hk2 G A 6: 82,736,730 T457M probably damaging Het
Iapp A G 6: 142,303,439 T73A possibly damaging Het
Ifit1 A G 19: 34,648,843 N460D probably damaging Het
Itpa T C 2: 130,672,099 F77L probably benign Het
Knop1 T C 7: 118,852,809 D229G probably damaging Het
Lrrc32 T C 7: 98,494,235 I5T probably damaging Het
Myo7a C T 7: 98,085,422 V622M probably damaging Het
N4bp1 T C 8: 86,844,772 E866G probably damaging Het
Olfr330 A T 11: 58,529,396 W197R probably benign Het
Palmd G A 3: 116,953,145 probably benign Het
Pcbp4 A G 9: 106,460,649 probably null Het
Pigf T C 17: 87,008,880 I157V probably benign Het
Pot1b G A 17: 55,695,160 T138M possibly damaging Het
Prl7a2 T A 13: 27,659,208 D204V probably damaging Het
Rfc3 A T 5: 151,642,936 D349E probably benign Het
Serpine1 T C 5: 137,063,472 probably benign Het
Strip1 A G 3: 107,613,259 V825A probably damaging Het
Stx12 A G 4: 132,884,362 S2P probably damaging Het
Sycp1 A C 3: 102,915,867 S311R probably benign Het
Tfpi A T 2: 84,444,825 C139* probably null Het
Tmc5 T A 7: 118,656,787 I695N probably damaging Het
Tmem169 T C 1: 72,301,104 V231A probably damaging Het
Ttbk2 T G 2: 120,739,833 S1211R possibly damaging Het
Ubr3 C T 2: 70,021,544 R1855* probably null Het
Urb1 A T 16: 90,777,560 S878T probably benign Het
Vmn1r174 T A 7: 23,754,324 Y138* probably null Het
Zfp282 A G 6: 47,890,120 N214D possibly damaging Het
Other mutations in Sarm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01476:Sarm1 APN 11 78490811 missense probably damaging 0.96
IGL02591:Sarm1 APN 11 78487352 missense probably damaging 1.00
R0027:Sarm1 UTSW 11 78488091 missense probably damaging 1.00
R0282:Sarm1 UTSW 11 78474980 nonsense probably null
R1583:Sarm1 UTSW 11 78483327 nonsense probably null
R1800:Sarm1 UTSW 11 78490994 missense possibly damaging 0.87
R2101:Sarm1 UTSW 11 78475289 missense probably damaging 1.00
R2131:Sarm1 UTSW 11 78475307 missense probably benign 0.00
R4474:Sarm1 UTSW 11 78497101 missense probably benign 0.01
R5191:Sarm1 UTSW 11 78497119 nonsense probably null
R5280:Sarm1 UTSW 11 78483476 missense probably damaging 1.00
R5285:Sarm1 UTSW 11 78497439 missense probably benign
R5954:Sarm1 UTSW 11 78490602 nonsense probably null
R6027:Sarm1 UTSW 11 78483558 missense probably benign
R7343:Sarm1 UTSW 11 78497257 missense possibly damaging 0.71
R8414:Sarm1 UTSW 11 78487968 missense probably damaging 1.00
V7732:Sarm1 UTSW 11 78488065 missense probably benign 0.03
Posted On2013-11-18