Incidental Mutation 'IGL01643:Hspa12b'
ID 93589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspa12b
Ensembl Gene ENSMUSG00000074793
Gene Name heat shock protein 12B
Synonyms 2700081N06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock # IGL01643
Quality Score
Status
Chromosome 2
Chromosomal Location 131127280-131146321 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131142697 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 329 (T329A)
Ref Sequence ENSEMBL: ENSMUSP00000096950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028800] [ENSMUST00000099349] [ENSMUST00000103188] [ENSMUST00000127862] [ENSMUST00000133602] [ENSMUST00000184121] [ENSMUST00000184535]
AlphaFold Q9CZJ2
Predicted Effect probably benign
Transcript: ENSMUST00000028800
SMART Domains Protein: ENSMUSP00000028800
Gene: ENSMUSG00000027327

DomainStartEndE-ValueType
Pfam:DUF4517 30 177 1.6e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099349
AA Change: T329A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096950
Gene: ENSMUSG00000074793
AA Change: T329A

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
SCOP:d1bupa1 62 248 3e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103188
SMART Domains Protein: ENSMUSP00000099477
Gene: ENSMUSG00000027327

DomainStartEndE-ValueType
Pfam:DUF4517 27 174 1.1e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127862
Predicted Effect probably benign
Transcript: ENSMUST00000133602
SMART Domains Protein: ENSMUSP00000115000
Gene: ENSMUSG00000027327

DomainStartEndE-ValueType
Pfam:DUF4517 27 140 3.5e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136838
Predicted Effect probably benign
Transcript: ENSMUST00000184121
Predicted Effect probably benign
Transcript: ENSMUST00000184535
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,191,588 R304Q probably damaging Het
Afap1l1 T A 18: 61,751,826 E196V probably damaging Het
Bmp5 A T 9: 75,839,613 D251V probably damaging Het
Ccdc155 A T 7: 45,200,286 M71K probably damaging Het
Ccser1 A G 6: 61,311,855 H334R probably benign Het
Crnkl1 A G 2: 145,931,348 M126T probably damaging Het
Ddrgk1 T C 2: 130,658,294 probably benign Het
Dpy19l4 T C 4: 11,290,184 probably benign Het
Eral1 A G 11: 78,074,278 probably null Het
Ereg T A 5: 91,086,778 S17T probably benign Het
Fgfr1 T A 8: 25,566,735 M280K probably benign Het
Gpr65 A G 12: 98,275,754 E222G probably damaging Het
Grid1 G T 14: 35,323,435 probably null Het
Inpp4b A G 8: 82,071,771 I863V probably damaging Het
Krt8 G T 15: 101,997,073 S447Y possibly damaging Het
Lama2 T A 10: 27,070,372 probably benign Het
Lama4 A C 10: 39,056,850 N574T probably benign Het
Lig3 T C 11: 82,798,292 S791P probably damaging Het
Oas2 A T 5: 120,736,187 probably benign Het
Olfr1255 A T 2: 89,816,673 I116F probably damaging Het
Pdk1 A G 2: 71,897,705 D370G probably damaging Het
Popdc3 T A 10: 45,314,880 I29N probably damaging Het
Rbp3 A T 14: 33,956,836 I914F probably benign Het
Rnf207 C T 4: 152,318,261 probably benign Het
Ryr2 T A 13: 11,692,677 I2825F possibly damaging Het
Slc37a2 A T 9: 37,235,553 probably benign Het
Vps8 T C 16: 21,518,222 V791A possibly damaging Het
Wdr64 T C 1: 175,772,311 L127P probably damaging Het
Whrn T C 4: 63,416,435 T368A possibly damaging Het
Other mutations in Hspa12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Hspa12b APN 2 131134120 missense probably damaging 1.00
IGL02145:Hspa12b APN 2 131143735 unclassified probably benign
IGL02441:Hspa12b APN 2 131138595 missense probably null 1.00
R0356:Hspa12b UTSW 2 131144799 missense possibly damaging 0.78
R1458:Hspa12b UTSW 2 131145192 missense probably damaging 0.98
R1618:Hspa12b UTSW 2 131140929 missense probably benign
R1734:Hspa12b UTSW 2 131138536 missense possibly damaging 0.82
R2149:Hspa12b UTSW 2 131143057 missense probably damaging 0.98
R4091:Hspa12b UTSW 2 131133488 splice site probably null
R4234:Hspa12b UTSW 2 131139012 missense probably benign 0.00
R4235:Hspa12b UTSW 2 131139012 missense probably benign 0.00
R4243:Hspa12b UTSW 2 131141858 missense possibly damaging 0.90
R5133:Hspa12b UTSW 2 131139508 missense possibly damaging 0.86
R5134:Hspa12b UTSW 2 131139508 missense possibly damaging 0.86
R5228:Hspa12b UTSW 2 131142964 missense possibly damaging 0.82
R6358:Hspa12b UTSW 2 131137066 critical splice donor site probably benign
R7555:Hspa12b UTSW 2 131138476 missense probably damaging 1.00
R8035:Hspa12b UTSW 2 131140939 missense probably damaging 1.00
R8117:Hspa12b UTSW 2 131138469 missense possibly damaging 0.79
R8721:Hspa12b UTSW 2 131141002 missense probably benign 0.01
R8807:Hspa12b UTSW 2 131145183 missense probably benign 0.04
R9233:Hspa12b UTSW 2 131134116 missense probably damaging 1.00
X0065:Hspa12b UTSW 2 131144561 splice site probably null
Posted On 2013-12-09