Incidental Mutation 'R7879:Hspa5'
ID 608613
Institutional Source Beutler Lab
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
MMRRC Submission 045931-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7879 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 34662102-34666541 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34665941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 595 (M595K)
Ref Sequence ENSEMBL: ENSMUSP00000028222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028222] [ENSMUST00000100171] [ENSMUST00000113086] [ENSMUST00000118108] [ENSMUST00000137145] [ENSMUST00000145903]
AlphaFold P20029
Predicted Effect probably benign
Transcript: ENSMUST00000028222
AA Change: M595K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028222
Gene: ENSMUSG00000026864
AA Change: M595K

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: ENSMUST00000047963
SMART Domains Protein: ENSMUSP00000037746
Gene: ENSMUSG00000070953

DomainStartEndE-ValueType
Pfam:Kelch_2 5 51 6.7e-13 PFAM
Pfam:Kelch_4 5 58 2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100171
AA Change: M595K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000097747
Gene: ENSMUSG00000026864
AA Change: M595K

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 probably benign
Transcript: ENSMUST00000113086
SMART Domains Protein: ENSMUSP00000108709
Gene: ENSMUSG00000070953

DomainStartEndE-ValueType
Pfam:Kelch_2 30 82 5e-15 PFAM
Pfam:Kelch_4 30 86 6.7e-10 PFAM
Pfam:Kelch_3 47 96 1e-12 PFAM
Pfam:Kelch_4 87 140 4.6e-7 PFAM
Pfam:Kelch_3 98 150 1.6e-9 PFAM
Pfam:Kelch_5 138 174 6.2e-8 PFAM
Pfam:Kelch_1 141 186 8.3e-7 PFAM
Pfam:Kelch_4 141 190 2.3e-10 PFAM
Pfam:Kelch_6 141 190 4.1e-10 PFAM
Pfam:Kelch_3 151 200 3.5e-8 PFAM
Pfam:Kelch_5 188 225 1.8e-7 PFAM
Pfam:Kelch_1 191 233 2.8e-9 PFAM
Pfam:Kelch_4 193 240 9.4e-9 PFAM
Pfam:Kelch_3 201 250 6.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118108
SMART Domains Protein: ENSMUSP00000113099
Gene: ENSMUSG00000070953

DomainStartEndE-ValueType
Pfam:Kelch_2 30 82 2.8e-16 PFAM
Pfam:Kelch_4 30 82 3.7e-6 PFAM
Pfam:Kelch_3 99 147 8.2e-9 PFAM
Pfam:Kelch_4 138 191 2.7e-6 PFAM
Pfam:Kelch_3 149 201 7.9e-9 PFAM
Pfam:Kelch_5 189 225 2.8e-7 PFAM
Pfam:Kelch_1 192 237 5.2e-6 PFAM
Pfam:Kelch_4 192 241 1.3e-9 PFAM
Pfam:Kelch_6 192 241 2.4e-9 PFAM
Pfam:Kelch_3 202 251 1.7e-7 PFAM
Pfam:Kelch_5 239 276 8.1e-7 PFAM
Pfam:Kelch_1 242 284 1.8e-8 PFAM
Pfam:Kelch_4 244 291 5.5e-8 PFAM
Pfam:Kelch_3 252 301 3.2e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137145
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449I24Rik T C 5: 146,439,662 (GRCm39) I81T probably benign Het
Acnat2 G A 4: 49,383,299 (GRCm39) P85S probably damaging Het
Akr1c19 G A 13: 4,286,223 (GRCm39) V74M probably damaging Het
Alb C A 5: 90,620,507 (GRCm39) T539K probably benign Het
B4galnt2 G A 11: 95,760,223 (GRCm39) T268I possibly damaging Het
Bcl7b G A 5: 135,205,986 (GRCm39) E58K possibly damaging Het
Calr3 C T 8: 73,178,487 (GRCm39) S372N unknown Het
Cdcp3 T A 7: 130,844,871 (GRCm39) V588E probably damaging Het
Cdh20 A T 1: 104,875,047 (GRCm39) probably null Het
Cdh20 A C 1: 109,976,677 (GRCm39) E114A probably benign Het
Cep70 A G 9: 99,144,686 (GRCm39) R74G possibly damaging Het
Chrna6 A G 8: 27,897,109 (GRCm39) F256S probably damaging Het
Cic A G 7: 24,984,551 (GRCm39) T996A probably benign Het
Clstn2 A G 9: 97,351,817 (GRCm39) V536A possibly damaging Het
Csmd1 A T 8: 16,441,820 (GRCm39) M348K probably benign Het
Dnah11 A C 12: 118,004,744 (GRCm39) D2192E probably damaging Het
Dnhd1 A G 7: 105,352,646 (GRCm39) I2600V probably benign Het
Dock3 A C 9: 106,785,700 (GRCm39) S185A probably benign Het
Dock4 A T 12: 40,780,083 (GRCm39) D628V possibly damaging Het
Dzank1 A T 2: 144,333,718 (GRCm39) S371T probably benign Het
Fam83b A T 9: 76,399,737 (GRCm39) N455K possibly damaging Het
Fcrlb T C 1: 170,736,365 (GRCm39) Y137C probably damaging Het
Gtf2i G A 5: 134,295,471 (GRCm39) T327M possibly damaging Het
Htt C T 5: 34,981,252 (GRCm39) A875V probably benign Het
Hvcn1 G A 5: 122,376,701 (GRCm39) probably null Het
Igsf10 A G 3: 59,238,145 (GRCm39) S679P probably damaging Het
Itsn2 A G 12: 4,751,265 (GRCm39) H1285R probably benign Het
Kcnq4 T C 4: 120,559,632 (GRCm39) T523A probably benign Het
Kif6 T A 17: 50,139,214 (GRCm39) I562N probably benign Het
Klhl9 C A 4: 88,638,575 (GRCm39) W555C probably damaging Het
Krt78 T C 15: 101,856,624 (GRCm39) T423A probably benign Het
Mapk10 C T 5: 103,111,362 (GRCm39) V391I probably benign Het
Noa1 T C 5: 77,445,044 (GRCm39) M592V probably benign Het
Npy5r A G 8: 67,133,968 (GRCm39) M275T possibly damaging Het
Nuak2 T A 1: 132,259,695 (GRCm39) V499E probably benign Het
Or4x6 A T 2: 89,949,185 (GRCm39) C252* probably null Het
Or6c213 T C 10: 129,574,559 (GRCm39) I76V probably benign Het
Otogl T C 10: 107,612,970 (GRCm39) E2052G probably benign Het
Pard3b T A 1: 62,198,670 (GRCm39) C253S possibly damaging Het
Pclo T C 5: 14,727,228 (GRCm39) S2029P unknown Het
Plekhg3 A G 12: 76,612,343 (GRCm39) I401M probably damaging Het
Polg A T 7: 79,100,392 (GRCm39) C1140S probably benign Het
Prl7c1 A T 13: 27,962,817 (GRCm39) L62H probably damaging Het
Psmf1 T A 2: 151,576,163 (GRCm39) E115V probably benign Het
Ptpn9 A T 9: 56,964,010 (GRCm39) N381I possibly damaging Het
Pzp A G 6: 128,465,979 (GRCm39) S1234P probably benign Het
Qrich1 A G 9: 108,436,485 (GRCm39) T728A possibly damaging Het
Ralgps2 C A 1: 156,656,636 (GRCm39) A323S probably benign Het
Rimbp3 T C 16: 17,028,910 (GRCm39) V778A possibly damaging Het
Scn1a A T 2: 66,116,349 (GRCm39) L430* probably null Het
Sema7a A T 9: 57,862,363 (GRCm39) I189F probably damaging Het
Slc22a8 T C 19: 8,571,386 (GRCm39) I39T probably benign Het
Stap2 T C 17: 56,309,023 (GRCm39) T115A probably benign Het
Stmn4 A G 14: 66,595,388 (GRCm39) I138V probably benign Het
Suds3 C T 5: 117,236,335 (GRCm39) probably null Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tet1 A C 10: 62,714,825 (GRCm39) D323E probably benign Het
Tia1 A G 6: 86,401,347 (GRCm39) D140G probably damaging Het
Trio C T 15: 27,852,010 (GRCm39) R827H possibly damaging Het
Ttn A G 2: 76,625,397 (GRCm39) probably null Het
Unc80 T C 1: 66,549,866 (GRCm39) V708A probably benign Het
Vmn1r194 A T 13: 22,428,772 (GRCm39) T130S probably benign Het
Wfikkn2 A G 11: 94,129,755 (GRCm39) C129R probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging 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
IGL02239:Hspa5 APN 2 34,662,788 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TCCGAGTGACAGCTGAAGAC -3'
(R):5'- CTCTAGCAGATCAGTGCACC -3'

Sequencing Primer
(F):5'- GCCTGACACCTGAAGAAATTG -3'
(R):5'- TCTAGCAGATCAGTGCACCTACAAC -3'
Posted On 2019-12-20