Incidental Mutation 'IGL02239:Hspa5'
ID286008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspa5
Ensembl Gene ENSMUSG00000026864
Gene Nameheat shock protein 5
SynonymsBip, 78kDa, Sez7, Grp78, D2Wsu141e, D2Wsu17e, Hsce70, XAP-1 antigen, mBiP, baffled
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02239
Quality Score
Status
Chromosome2
Chromosomal Location34771970-34777547 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34772776 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 115 (F115L)
Ref Sequence ENSEMBL: ENSMUSP00000097747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028222] [ENSMUST00000100171] [ENSMUST00000137145] [ENSMUST00000145903]
Predicted Effect probably benign
Transcript: ENSMUST00000028222
AA Change: F115L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028222
Gene: ENSMUSG00000026864
AA Change: F115L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:HSP70 31 637 8.2e-276 PFAM
Pfam:MreB_Mbl 136 406 1.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100171
AA Change: F115L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097747
Gene: ENSMUSG00000026864
AA Change: F115L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:HSP70 31 637 3.3e-278 PFAM
Pfam:MreB_Mbl 136 406 1.2e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129333
Predicted Effect probably benign
Transcript: ENSMUST00000137145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145466
Predicted Effect probably benign
Transcript: ENSMUST00000145903
SMART Domains Protein: ENSMUSP00000122360
Gene: ENSMUSG00000070953

DomainStartEndE-ValueType
Pfam:Kelch_2 38 90 1.5e-17 PFAM
Pfam:Kelch_4 38 90 2.2e-7 PFAM
Pfam:Kelch_1 55 87 4.5e-7 PFAM
Pfam:Kelch_3 107 155 7e-10 PFAM
Pfam:Kelch_4 146 199 4e-7 PFAM
Pfam:Kelch_3 157 209 1.5e-10 PFAM
Pfam:Kelch_5 197 231 1e-8 PFAM
Pfam:Kelch_4 200 249 3.4e-9 PFAM
Pfam:Kelch_5 247 284 5.1e-8 PFAM
Pfam:Kelch_1 250 292 2.9e-9 PFAM
Pfam:Kelch_6 250 301 1.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155595
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 is a member of the heat shock protein 70 (HSP70) family. It is localized in the lumen of the endoplasmic reticulum (ER), and is involved in the folding and assembly of proteins in the ER. As this protein interacts with many ER proteins, it may play a key role in monitoring protein transport through the cell.[provided by RefSeq, Sep 2010]
PHENOTYPE: Nullizygous embryos die around implantation. Neonates homozygous for a knock-in allele die of respiratory failure. Mice homozygous for an ENU-induced mutation exhibit abnormal thalamocortical axon patterning, small kidneys, cleft palate, respiratory distress, and postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik T C 7: 140,295,843 F340S probably damaging Het
Abcf3 A G 16: 20,550,636 E262G possibly damaging Het
Adgra3 T A 5: 49,960,712 S1165C probably damaging Het
Akap11 A G 14: 78,513,849 L366P probably damaging Het
Astn1 T C 1: 158,664,130 probably null Het
Bhmt2 C T 13: 93,663,179 G250R probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntnap2 A G 6: 47,021,654 D880G probably damaging Het
Erc1 A G 6: 119,773,891 V443A probably damaging Het
Fbxw15 A G 9: 109,559,837 I168T probably benign Het
Fgfr2 C T 7: 130,177,686 A504T probably damaging Het
Galm A G 17: 80,145,038 D135G probably damaging Het
Gstp3 C T 19: 4,057,899 V145I possibly damaging Het
Lig4 A C 8: 9,972,473 S436A probably damaging Het
Ncam1 A G 9: 49,567,402 V99A probably damaging Het
Nell1 T A 7: 50,249,650 I336N probably benign Het
Olfr44 T A 9: 39,484,561 I231F probably damaging Het
Olfr476 T C 7: 107,968,047 S217P probably damaging Het
Olfr600 T C 7: 103,346,598 Y110C probably damaging Het
Patl1 A T 19: 11,937,359 K625* probably null Het
Qrsl1 G A 10: 43,894,600 P99S possibly damaging Het
Rfx8 T C 1: 39,680,886 D343G probably benign Het
Serpinb3a T A 1: 107,051,688 Y28F probably benign Het
Slc6a4 A T 11: 77,027,156 I575F probably benign Het
Tbx5 T A 5: 119,871,280 S285T possibly damaging Het
Tmem229a A T 6: 24,955,540 S72T probably damaging Het
Ttn T C 2: 76,746,404 D24715G probably damaging Het
Zfp784 T C 7: 5,035,671 probably benign Het
Zswim2 T A 2: 83,938,763 K85* probably null Het
Other mutations in Hspa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Hspa5 APN 2 34774718 missense probably benign
IGL01997:Hspa5 APN 2 34772315 utr 5 prime probably benign
IGL03326:Hspa5 APN 2 34776117 unclassified probably benign
R0281:Hspa5 UTSW 2 34774320 missense probably damaging 1.00
R1052:Hspa5 UTSW 2 34775098 missense probably damaging 0.99
R1687:Hspa5 UTSW 2 34775824 missense probably benign 0.00
R1741:Hspa5 UTSW 2 34772692 missense possibly damaging 0.91
R1833:Hspa5 UTSW 2 34776053 nonsense probably null
R1842:Hspa5 UTSW 2 34775803 missense probably damaging 1.00
R1851:Hspa5 UTSW 2 34774678 missense possibly damaging 0.64
R1864:Hspa5 UTSW 2 34774541 missense probably damaging 0.99
R1865:Hspa5 UTSW 2 34774541 missense probably damaging 0.99
R2173:Hspa5 UTSW 2 34774662 missense probably damaging 1.00
R5027:Hspa5 UTSW 2 34775815 missense probably damaging 1.00
R5889:Hspa5 UTSW 2 34774617 missense probably damaging 1.00
R6046:Hspa5 UTSW 2 34775749 missense possibly damaging 0.94
R6515:Hspa5 UTSW 2 34772404 missense probably benign 0.05
R7045:Hspa5 UTSW 2 34773192 missense probably damaging 0.99
R7046:Hspa5 UTSW 2 34773192 missense probably damaging 0.99
R7047:Hspa5 UTSW 2 34773192 missense probably damaging 0.99
R7049:Hspa5 UTSW 2 34773192 missense probably damaging 0.99
R7185:Hspa5 UTSW 2 34775126 missense probably damaging 1.00
R7238:Hspa5 UTSW 2 34772371 missense unknown
X0067:Hspa5 UTSW 2 34775101 missense probably damaging 1.00
Posted On2015-04-16