Incidental Mutation 'IGL02623:Hspa12a'
ID300945
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? Possibly non essential (E-score: 0.256) question?
Stock #IGL02623
Quality Score
Status
Chromosome19
Chromosomal Location58795751-58860984 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58809551 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 245 (Y245F)
Ref Sequence ENSEMBL: ENSMUSP00000066860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066285]
Predicted Effect probably benign
Transcript: ENSMUST00000066285
AA Change: Y245F

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: Y245F

DomainStartEndE-ValueType
SCOP:d1bupa1 58 244 4e-14 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,056,144 I35F probably benign Het
Acad10 A G 5: 121,629,930 V819A possibly damaging Het
Adgrd1 A T 5: 129,132,745 N279Y probably damaging Het
Aplp2 C A 9: 31,178,083 probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
B3gnt5 A G 16: 19,769,610 D193G probably damaging Het
Cacng1 A G 11: 107,704,319 F144S probably damaging Het
Dnm3 T A 1: 162,355,432 T105S probably damaging Het
Efcab6 T A 15: 83,879,448 I1228F probably damaging Het
Erc2 A G 14: 27,776,980 D271G probably damaging Het
Fat3 T C 9: 15,997,137 Y2523C probably damaging Het
Fhl4 A G 10: 85,098,171 F249L probably damaging Het
Gm17782 T C 17: 36,162,066 probably benign Het
Gm4787 A G 12: 81,378,728 Y219H probably damaging Het
Hk1 A G 10: 62,292,359 L328P probably benign Het
Kbtbd12 T C 6: 88,618,389 Y153C probably damaging Het
Kcnd2 A T 6: 21,726,195 R562S probably benign Het
Lct T C 1: 128,308,251 S340G probably benign Het
Maats1 T A 16: 38,333,778 D135V possibly damaging Het
Mettl25 C A 10: 105,826,324 G262W probably damaging Het
Mindy3 G A 2: 12,364,483 Q142* probably null Het
Olfr1045 A T 2: 86,198,019 H244Q probably damaging Het
Optn T C 2: 5,035,022 E318G probably damaging Het
Pan2 T C 10: 128,312,899 S443P probably benign Het
Parva A G 7: 112,576,439 D259G probably damaging Het
Pkhd1l1 T A 15: 44,584,873 L3816Q probably damaging Het
Polq T C 16: 37,060,375 F967S probably benign Het
Prdm16 T C 4: 154,340,877 N817S probably damaging Het
Ptprt C A 2: 161,607,452 probably benign Het
Rbbp8nl T A 2: 180,281,443 S154C probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slit1 T C 19: 41,651,683 I169V probably damaging Het
Smyd4 G T 11: 75,390,064 probably benign Het
Tial1 A G 7: 128,443,883 Y326H probably benign Het
Tmem198b A G 10: 128,802,451 L81P probably damaging Het
Tmem94 T A 11: 115,796,401 C1115* probably null Het
Tns3 A G 11: 8,437,141 S1349P probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zfp106 A T 2: 120,545,914 probably null Het
Zfp119b T C 17: 55,939,793 E99G probably damaging Het
Zfp462 T A 4: 55,012,986 C503S probably damaging Het
Zfyve19 G A 2: 119,212,015 probably null Het
Zxdc G T 6: 90,382,370 K661N probably damaging Het
Other mutations in Hspa12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Hspa12a APN 19 58828249 splice site probably null
IGL01516:Hspa12a APN 19 58827676 missense probably benign 0.00
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
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
Posted On2015-04-16