Incidental Mutation 'IGL03355:Sar1a'
ID 419887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sar1a
Ensembl Gene ENSMUSG00000020088
Gene Name secretion associated Ras related GTPase 1A
Synonyms 1600019H17Rik, Sara1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.433) question?
Stock # IGL03355
Quality Score
Status
Chromosome 10
Chromosomal Location 61516096-61529076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61520718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 15 (V15A)
Ref Sequence ENSEMBL: ENSMUSP00000151383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020285] [ENSMUST00000218474] [ENSMUST00000219055] [ENSMUST00000219506] [ENSMUST00000220372]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000020285
AA Change: V15A

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020285
Gene: ENSMUSG00000020088
AA Change: V15A

DomainStartEndE-ValueType
SAR 9 197 7.79e-99 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218172
Predicted Effect probably benign
Transcript: ENSMUST00000218474
AA Change: V15A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000218741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218968
Predicted Effect probably benign
Transcript: ENSMUST00000219055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219142
Predicted Effect possibly damaging
Transcript: ENSMUST00000219506
AA Change: V15A

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000220372
AA Change: V15A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt1 T C X: 45,418,624 (GRCm39) V213A probably benign Het
Adam28 A T 14: 68,872,252 (GRCm39) probably benign Het
Apeh T C 9: 107,963,644 (GRCm39) H557R probably benign Het
Atmin T A 8: 117,684,164 (GRCm39) L608* probably null Het
B3gnt5 A T 16: 19,587,903 (GRCm39) M41L probably benign Het
Best3 T C 10: 116,829,010 (GRCm39) F97L possibly damaging Het
Chmp1b2 C A X: 106,831,889 (GRCm39) V180F possibly damaging Het
Col7a1 G A 9: 108,807,228 (GRCm39) V2486M unknown Het
Crym T C 7: 119,798,536 (GRCm39) probably null Het
Cubn T C 2: 13,482,868 (GRCm39) probably null Het
Dnah7b A G 1: 46,158,464 (GRCm39) D349G probably benign Het
Eea1 T C 10: 95,878,074 (GRCm39) probably benign Het
Emc1 C T 4: 139,098,904 (GRCm39) probably benign Het
Eps8 T C 6: 137,489,143 (GRCm39) probably benign Het
Ereg A G 5: 91,236,440 (GRCm39) probably benign Het
Faah G A 4: 115,859,725 (GRCm39) P369S probably benign Het
Fam135a A T 1: 24,068,249 (GRCm39) N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 (GRCm39) S622P probably damaging Het
Gm10030 A G 9: 110,835,841 (GRCm39) noncoding transcript Het
Gpr179 A T 11: 97,228,434 (GRCm39) S1240R possibly damaging Het
Hax1 A T 3: 89,904,754 (GRCm39) H146Q possibly damaging Het
Ift46 A G 9: 44,693,445 (GRCm39) N31D possibly damaging Het
Kel C T 6: 41,675,821 (GRCm39) probably null Het
Khk A T 5: 31,086,904 (GRCm39) I108L probably benign Het
Morc4 T C X: 138,750,431 (GRCm39) N375S probably null Het
Mta3 A T 17: 84,107,474 (GRCm39) probably benign Het
Nacc2 T C 2: 25,952,249 (GRCm39) K369R probably damaging Het
Nkap T C X: 36,403,323 (GRCm39) probably benign Het
Obscn A T 11: 58,928,618 (GRCm39) L6016Q probably damaging Het
Or52e2 T C 7: 102,804,408 (GRCm39) E182G probably damaging Het
Or8c9 A T 9: 38,240,952 (GRCm39) Q20L probably benign Het
Pde4c T A 8: 71,199,244 (GRCm39) L182Q probably damaging Het
Pla2g10 G T 16: 13,548,284 (GRCm39) probably null Het
Rap1gap2 T A 11: 74,303,170 (GRCm39) I426F probably damaging Het
Rbm33 C A 5: 28,596,059 (GRCm39) probably benign Het
Rnf139 C A 15: 58,771,881 (GRCm39) D635E probably benign Het
Scarb1 A C 5: 125,366,766 (GRCm39) S56A probably benign Het
Scn3a T C 2: 65,290,912 (GRCm39) K1945E possibly damaging Het
Sec62 G A 3: 30,864,071 (GRCm39) G118R unknown Het
Sgce T A 6: 4,689,738 (GRCm39) Q356L probably damaging Het
Slco4c1 A T 1: 96,770,232 (GRCm39) Y277* probably null Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Sphkap A T 1: 83,258,224 (GRCm39) I173N probably damaging Het
Spred3 C T 7: 28,860,997 (GRCm39) C394Y unknown Het
Stra6l A G 4: 45,873,689 (GRCm39) D283G probably benign Het
Tipin A T 9: 64,195,406 (GRCm39) Q4L probably benign Het
Tmprss11c T A 5: 86,379,730 (GRCm39) I380F probably benign Het
Tymp T C 15: 89,259,219 (GRCm39) D195G possibly damaging Het
Ugt2b34 T A 5: 87,054,544 (GRCm39) Y79F probably benign Het
Vmn2r16 T A 5: 109,511,580 (GRCm39) S596T possibly damaging Het
Wdhd1 A G 14: 47,481,346 (GRCm39) S1024P possibly damaging Het
Other mutations in Sar1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01715:Sar1a APN 10 61,521,406 (GRCm39) splice site probably benign
IGL01756:Sar1a APN 10 61,522,235 (GRCm39) missense probably benign
IGL02070:Sar1a APN 10 61,520,673 (GRCm39) utr 5 prime probably benign
R1033:Sar1a UTSW 10 61,521,395 (GRCm39) missense probably damaging 1.00
R1964:Sar1a UTSW 10 61,520,947 (GRCm39) missense probably benign 0.01
R3956:Sar1a UTSW 10 61,522,172 (GRCm39) missense possibly damaging 0.80
R5086:Sar1a UTSW 10 61,527,125 (GRCm39) missense probably damaging 1.00
R5758:Sar1a UTSW 10 61,520,851 (GRCm39) missense probably benign 0.27
R7505:Sar1a UTSW 10 61,527,073 (GRCm39) missense probably benign
R8004:Sar1a UTSW 10 61,520,945 (GRCm39) missense probably benign 0.06
R8886:Sar1a UTSW 10 61,522,172 (GRCm39) missense possibly damaging 0.80
Posted On 2016-08-02