Incidental Mutation 'IGL02239:Hspa5'
ID 286008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspa5
Ensembl Gene ENSMUSG00000026864
Gene Name heat shock protein 5
Synonyms baffled, mBiP, Grp78, Bip, Sez7, Hsce70, D2Wsu17e, 78kDa, D2Wsu141e, XAP-1 antigen
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02239
Quality Score
Status
Chromosome 2
Chromosomal Location 34662102-34666541 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34662788 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P20029
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
Abcf3 A G 16: 20,369,386 (GRCm39) E262G possibly damaging Het
Adgra3 T A 5: 50,118,054 (GRCm39) S1165C probably damaging Het
Akap11 A G 14: 78,751,289 (GRCm39) L366P probably damaging Het
Astn1 T C 1: 158,491,700 (GRCm39) probably null Het
Bhmt2 C T 13: 93,799,687 (GRCm39) G250R probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntnap2 A G 6: 46,998,588 (GRCm39) D880G probably damaging Het
Erc1 A G 6: 119,750,852 (GRCm39) V443A probably damaging Het
Fbxw15 A G 9: 109,388,905 (GRCm39) I168T probably benign Het
Fgfr2 C T 7: 129,779,416 (GRCm39) A504T probably damaging Het
Galm A G 17: 80,452,467 (GRCm39) D135G probably damaging Het
Gstp3 C T 19: 4,107,899 (GRCm39) V145I possibly damaging Het
Lig4 A C 8: 10,022,473 (GRCm39) S436A probably damaging Het
Ncam1 A G 9: 49,478,702 (GRCm39) V99A probably damaging Het
Nell1 T A 7: 49,899,398 (GRCm39) I336N probably benign Het
Or52ad1 T C 7: 102,995,805 (GRCm39) Y110C probably damaging Het
Or5p55 T C 7: 107,567,254 (GRCm39) S217P probably damaging Het
Or8g20 T A 9: 39,395,857 (GRCm39) I231F probably damaging Het
Patl1 A T 19: 11,914,723 (GRCm39) K625* probably null Het
Qrsl1 G A 10: 43,770,596 (GRCm39) P99S possibly damaging Het
Rfx8 T C 1: 39,720,046 (GRCm39) D343G probably benign Het
Scart2 T C 7: 139,875,756 (GRCm39) F340S probably damaging Het
Serpinb3a T A 1: 106,979,418 (GRCm39) Y28F probably benign Het
Slc6a4 A T 11: 76,917,982 (GRCm39) I575F probably benign Het
Tbx5 T A 5: 120,009,345 (GRCm39) S285T possibly damaging Het
Tmem229a A T 6: 24,955,539 (GRCm39) S72T probably damaging Het
Ttn T C 2: 76,576,748 (GRCm39) D24715G probably damaging Het
Zfp784 T C 7: 5,038,670 (GRCm39) probably benign Het
Zswim2 T A 2: 83,769,107 (GRCm39) K85* probably null Het
Other mutations in Hspa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Hspa5 APN 2 34,664,730 (GRCm39) missense probably benign
IGL01997:Hspa5 APN 2 34,662,327 (GRCm39) utr 5 prime probably benign
IGL03326:Hspa5 APN 2 34,666,129 (GRCm39) unclassified probably benign
R0281:Hspa5 UTSW 2 34,664,332 (GRCm39) missense probably damaging 1.00
R1052:Hspa5 UTSW 2 34,665,110 (GRCm39) missense probably damaging 0.99
R1687:Hspa5 UTSW 2 34,665,836 (GRCm39) missense probably benign 0.00
R1741:Hspa5 UTSW 2 34,662,704 (GRCm39) missense possibly damaging 0.91
R1833:Hspa5 UTSW 2 34,666,065 (GRCm39) nonsense probably null
R1842:Hspa5 UTSW 2 34,665,815 (GRCm39) missense probably damaging 1.00
R1851:Hspa5 UTSW 2 34,664,690 (GRCm39) missense possibly damaging 0.64
R1864:Hspa5 UTSW 2 34,664,553 (GRCm39) missense probably damaging 0.99
R1865:Hspa5 UTSW 2 34,664,553 (GRCm39) missense probably damaging 0.99
R2173:Hspa5 UTSW 2 34,664,674 (GRCm39) missense probably damaging 1.00
R5027:Hspa5 UTSW 2 34,665,827 (GRCm39) missense probably damaging 1.00
R5889:Hspa5 UTSW 2 34,664,629 (GRCm39) missense probably damaging 1.00
R6046:Hspa5 UTSW 2 34,665,761 (GRCm39) missense possibly damaging 0.94
R6515:Hspa5 UTSW 2 34,662,416 (GRCm39) missense probably benign 0.05
R7045:Hspa5 UTSW 2 34,663,204 (GRCm39) missense probably damaging 0.99
R7046:Hspa5 UTSW 2 34,663,204 (GRCm39) missense probably damaging 0.99
R7047:Hspa5 UTSW 2 34,663,204 (GRCm39) missense probably damaging 0.99
R7049:Hspa5 UTSW 2 34,663,204 (GRCm39) missense probably damaging 0.99
R7185:Hspa5 UTSW 2 34,665,138 (GRCm39) missense probably damaging 1.00
R7238:Hspa5 UTSW 2 34,662,383 (GRCm39) missense unknown
R7879:Hspa5 UTSW 2 34,665,941 (GRCm39) missense probably benign 0.05
R9317:Hspa5 UTSW 2 34,666,070 (GRCm39) missense probably benign 0.45
R9507:Hspa5 UTSW 2 34,664,610 (GRCm39) missense probably benign
R9701:Hspa5 UTSW 2 34,664,649 (GRCm39) nonsense probably null
X0067:Hspa5 UTSW 2 34,665,113 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16