Incidental Mutation 'IGL01516:Hspa12a'
ID90404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspa12a
Ensembl Gene ENSMUSG00000025092
Gene Nameheat shock protein 12A
Synonyms1700063D12Rik, Hspa12a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.226) question?
Stock #IGL01516
Quality Score
Status
Chromosome19
Chromosomal Location58795751-58860984 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58827676 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 45 (D45V)
Ref Sequence ENSEMBL: ENSMUSP00000066860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066285]
Predicted Effect probably benign
Transcript: ENSMUST00000066285
AA Change: D45V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: D45V

DomainStartEndE-ValueType
SCOP:d1bupa1 58 244 4e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,690,734 S95P probably benign Het
Abca6 T A 11: 110,218,217 H709L possibly damaging Het
BC051142 A G 17: 34,449,260 D168G possibly damaging Het
Bpifb1 A G 2: 154,218,252 Y455C probably benign Het
Clk1 G A 1: 58,414,404 T341I probably damaging Het
Corin A T 5: 72,454,487 Y77* probably null Het
Cps1 C T 1: 67,230,284 R1481C probably damaging Het
Cspg5 A G 9: 110,246,693 K166E probably benign Het
Dcxr A G 11: 120,725,758 probably null Het
Epha5 C A 5: 84,386,276 L65F probably damaging Het
Erbb4 T A 1: 68,328,245 K438* probably null Het
Gldc A T 19: 30,099,032 C1005S probably damaging Het
Hs3st5 C T 10: 36,833,051 T194I probably damaging Het
Il1rn C T 2: 24,349,539 T130I probably damaging Het
Klk1b22 G T 7: 44,116,308 C196F probably damaging Het
Lamp1 C T 8: 13,173,863 H332Y probably damaging Het
Limd2 T C 11: 106,159,044 T40A probably benign Het
Lztr1 G A 16: 17,522,391 probably null Het
Mbd4 T C 6: 115,849,530 T167A probably damaging Het
Mitf T A 6: 98,010,390 probably null Het
Mlph A G 1: 90,939,390 D378G probably damaging Het
Mrgprb5 A T 7: 48,168,384 L201Q probably damaging Het
Myo5b A T 18: 74,627,195 I261F probably damaging Het
Olfr1413 A T 1: 92,573,443 I91F probably benign Het
Olfr918 C T 9: 38,672,863 V207I probably benign Het
Paics T A 5: 76,956,731 L68I probably damaging Het
Pramef20 A G 4: 144,377,767 V56A probably damaging Het
Prkca C T 11: 107,961,602 V102M probably null Het
Ptpn21 G A 12: 98,715,189 T62I probably damaging Het
Ptpre A T 7: 135,664,999 E212V probably damaging Het
Rufy2 A C 10: 63,011,433 K539Q possibly damaging Het
Serpinb9d T A 13: 33,202,671 probably null Het
Smarcd1 T C 15: 99,712,213 F442L probably benign Het
Tas2r115 A G 6: 132,737,613 V125A probably damaging Het
Tmem154 C T 3: 84,684,590 H120Y probably benign Het
Tnrc6b A G 15: 80,902,622 K1321E possibly damaging Het
Trmt13 A G 3: 116,589,810 probably benign Het
Vmn1r19 T C 6: 57,404,872 F137L probably benign Het
Vmn1r202 T A 13: 22,501,462 T262S possibly damaging Het
Vmn2r57 A G 7: 41,399,946 V793A probably damaging Het
Wapl A G 14: 34,692,081 N300S probably damaging Het
Xpot T A 10: 121,590,222 probably null Het
Zfp784 G A 7: 5,036,037 probably benign Het
Zfyve26 G T 12: 79,287,851 P131Q probably benign Het
Other mutations in Hspa12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Hspa12a APN 19 58828249 splice site probably null
IGL01766:Hspa12a APN 19 58799467 missense probably damaging 0.99
IGL01986:Hspa12a APN 19 58799402 missense probably benign 0.30
IGL02138:Hspa12a APN 19 58828298 missense probably benign 0.45
IGL02170:Hspa12a APN 19 58804681 missense probably benign 0.01
IGL02576:Hspa12a APN 19 58799410 missense possibly damaging 0.56
IGL02623:Hspa12a APN 19 58809551 missense probably benign 0.01
IGL02890:Hspa12a APN 19 58820999 critical splice donor site probably null
IGL03209:Hspa12a APN 19 58822061 splice site probably null
IGL03343:Hspa12a APN 19 58799396 missense probably benign 0.00
R0040:Hspa12a UTSW 19 58799624 missense probably benign 0.10
R0090:Hspa12a UTSW 19 58799509 missense probably benign 0.00
R2139:Hspa12a UTSW 19 58799482 missense probably benign
R4031:Hspa12a UTSW 19 58800857 missense probably benign 0.17
R4686:Hspa12a UTSW 19 58799749 missense possibly damaging 0.90
R4914:Hspa12a UTSW 19 58799452 missense probably damaging 1.00
R5046:Hspa12a UTSW 19 58799545 missense probably damaging 1.00
R5580:Hspa12a UTSW 19 58799660 missense probably benign 0.11
R5615:Hspa12a UTSW 19 58804650 missense possibly damaging 0.56
R5781:Hspa12a UTSW 19 58822086 missense probably damaging 0.99
R6777:Hspa12a UTSW 19 58822087 missense probably benign 0.03
R6954:Hspa12a UTSW 19 58799692 missense probably benign 0.05
R7038:Hspa12a UTSW 19 58804700 missense probably damaging 1.00
R7151:Hspa12a UTSW 19 58822162 missense probably benign 0.07
R7249:Hspa12a UTSW 19 58805433 missense probably benign 0.27
R7677:Hspa12a UTSW 19 58860885 missense probably benign 0.01
R8110:Hspa12a UTSW 19 58821013 missense possibly damaging 0.86
Posted On2013-12-09