Incidental Mutation 'IGL01564:Hspa1b'
ID90935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspa1b
Ensembl Gene ENSMUSG00000090877
Gene Nameheat shock protein 1B
SynonymsHsp70-1, hsp68, HSP70A1, Hsp70, Hsp70.1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.432) question?
Stock #IGL01564
Quality Score
Status
Chromosome17
Chromosomal Location34956436-34959238 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34957549 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 487 (N487D)
Ref Sequence ENSEMBL: ENSMUSP00000133815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172753]
Predicted Effect probably benign
Transcript: ENSMUST00000172753
AA Change: N487D

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133815
Gene: ENSMUSG00000090877
AA Change: N487D

DomainStartEndE-ValueType
Pfam:HSP70 6 612 1.3e-268 PFAM
low complexity region 613 631 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174777
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in increased susceptibility to focal cerebral ischemic injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 T A 10: 80,606,859 M177K probably damaging Het
Ankrd28 G T 14: 31,755,767 T48K probably damaging Het
BC005561 A T 5: 104,520,663 Y1017F probably benign Het
Capn3 T C 2: 120,480,708 I112T probably damaging Het
Clec3a T A 8: 114,425,542 I96N probably damaging Het
Clic4 C T 4: 135,217,193 A224T probably damaging Het
Eif2b3 T C 4: 117,028,542 Y94H probably benign Het
Ep300 A T 15: 81,632,464 probably benign Het
Errfi1 C A 4: 150,867,030 T305N probably damaging Het
Fam131c T A 4: 141,379,673 probably null Het
Fbxo11 G A 17: 88,002,896 T494I probably benign Het
Homer2 T C 7: 81,618,572 probably null Het
Hpf1 C A 8: 60,890,479 probably benign Het
Ikbke C A 1: 131,257,921 A617S probably benign Het
Jade1 G T 3: 41,596,649 R174S possibly damaging Het
Lcmt1 T C 7: 123,404,440 F139S probably benign Het
Lipo2 T C 19: 33,721,024 T318A probably benign Het
Lrp1b C T 2: 40,677,486 probably benign Het
Lsm14a T C 7: 34,389,355 probably benign Het
Mpp2 T C 11: 102,061,519 D393G probably benign Het
Nfyb T C 10: 82,752,426 Y137C probably damaging Het
Olfr1161 A T 2: 88,025,304 H194L probably benign Het
Olfr1510 T C 14: 52,410,842 D10G probably benign Het
Olfr476 T C 7: 107,967,991 I198T probably benign Het
Scn3a A C 2: 65,461,446 I1652S probably damaging Het
Slc33a1 C T 3: 63,943,347 V519I probably benign Het
Strada G T 11: 106,173,292 N66K probably damaging Het
Tlr1 T A 5: 64,925,846 I463F probably damaging Het
Tnfrsf19 G T 14: 60,974,609 F197L possibly damaging Het
Tph1 T A 7: 46,650,881 probably benign Het
Ttn A T 2: 76,816,578 L3287H probably damaging Het
Vmn2r18 A T 5: 151,585,168 S164T possibly damaging Het
Zan C T 5: 137,446,733 V1755I unknown Het
Zmym4 T C 4: 126,911,280 I396V possibly damaging Het
Other mutations in Hspa1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4548:Hspa1b UTSW 17 34957129 small deletion probably benign
FR4737:Hspa1b UTSW 17 34957129 small deletion probably benign
R0271:Hspa1b UTSW 17 34958832 missense probably benign 0.02
R0843:Hspa1b UTSW 17 34957548 missense possibly damaging 0.88
R2679:Hspa1b UTSW 17 34957303 missense probably benign 0.09
R5007:Hspa1b UTSW 17 34958110 missense probably benign 0.08
R5121:Hspa1b UTSW 17 34958004 missense possibly damaging 0.89
R5261:Hspa1b UTSW 17 34959007 start codon destroyed probably null
R6076:Hspa1b UTSW 17 34957497 missense probably damaging 1.00
R6523:Hspa1b UTSW 17 34957191 missense probably benign 0.42
R6823:Hspa1b UTSW 17 34958185 missense probably benign 0.02
R7536:Hspa1b UTSW 17 34958875 missense possibly damaging 0.51
R7898:Hspa1b UTSW 17 34958191 missense probably benign 0.38
R8186:Hspa1b UTSW 17 34957581 missense probably damaging 1.00
R8691:Hspa1b UTSW 17 34957096 missense possibly damaging 0.79
Posted On2013-12-09