Incidental Mutation 'R5742:Hspd1'
ID 445595
Institutional Source Beutler Lab
Gene Symbol Hspd1
Ensembl Gene ENSMUSG00000025980
Gene Name heat shock protein 1 (chaperonin)
Synonyms Hsp60
MMRRC Submission 043352-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5742 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 55116994-55127402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55123766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 118 (V118A)
Ref Sequence ENSEMBL: ENSMUSP00000122947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027123] [ENSMUST00000075242] [ENSMUST00000127861] [ENSMUST00000144077]
AlphaFold P63038
Predicted Effect probably benign
Transcript: ENSMUST00000027123
AA Change: V118A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000027123
Gene: ENSMUSG00000025980
AA Change: V118A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 47 550 1.8e-87 PFAM
low complexity region 557 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075242
SMART Domains Protein: ENSMUSP00000074724
Gene: ENSMUSG00000073676

DomainStartEndE-ValueType
Cpn10 8 100 2.91e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127861
AA Change: V118A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000119336
Gene: ENSMUSG00000025980
AA Change: V118A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 47 202 2.1e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134628
Predicted Effect probably benign
Transcript: ENSMUST00000144077
AA Change: V118A

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000122947
Gene: ENSMUSG00000025980
AA Change: V118A

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 47 142 1.2e-32 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a gene-trap allele exhibit embryonic lethality between E7.5 and E9.75 associated with growth retardation. Males heterozygous for a gene-trap allele produce fewer female offspring than expected. Heterozygotes develop a slowly progressive motor defect resembling spastic paraplegia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,056,379 (GRCm39) A794T possibly damaging Het
Abca9 T G 11: 110,051,243 (GRCm39) E151A probably damaging Het
Abcb5 A G 12: 118,881,992 (GRCm39) V579A probably damaging Het
Apob T A 12: 8,057,191 (GRCm39) L1858Q probably damaging Het
Cerk C T 15: 86,025,773 (GRCm39) E223K probably damaging Het
Cntnap2 T A 6: 45,897,860 (GRCm39) Y179* probably null Het
Ddx60 A T 8: 62,401,955 (GRCm39) Y277F probably benign Het
Dlgap1 T G 17: 71,025,194 (GRCm39) V538G probably benign Het
Duox2 A G 2: 122,115,402 (GRCm39) I1050T probably benign Het
Dusp10 A G 1: 183,769,853 (GRCm39) probably null Het
Dync2h1 T A 9: 7,165,762 (GRCm39) I500F possibly damaging Het
Erich3 T A 3: 154,438,960 (GRCm39) C398S probably damaging Het
Fez1 G A 9: 36,761,743 (GRCm39) probably null Het
Fkbp3 A C 12: 65,116,812 (GRCm39) H41Q probably benign Het
Fras1 C G 5: 96,916,240 (GRCm39) Q3425E possibly damaging Het
Fuca1 T C 4: 135,650,286 (GRCm39) V119A probably damaging Het
Grhl2 A G 15: 37,328,616 (GRCm39) K414R probably damaging Het
Heatr5a A T 12: 52,002,335 (GRCm39) C200* probably null Het
Hmgcs2 A G 3: 98,204,832 (GRCm39) N330S probably benign Het
Jmjd1c A G 10: 67,056,112 (GRCm39) T511A probably benign Het
Kat6b T C 14: 21,718,503 (GRCm39) S1061P probably damaging Het
Kcnh6 T C 11: 105,899,968 (GRCm39) V79A probably benign Het
Kel C T 6: 41,675,961 (GRCm39) G243E probably damaging Het
Klc4 C T 17: 46,953,197 (GRCm39) R111Q probably damaging Het
Lrp1 T C 10: 127,384,216 (GRCm39) D3641G probably damaging Het
Map2k1 A T 9: 64,101,053 (GRCm39) D208E probably damaging Het
Masp1 T A 16: 23,273,675 (GRCm39) M588L probably benign Het
Mgl2 T A 11: 70,027,510 (GRCm39) N239K probably benign Het
Mki67 G A 7: 135,306,102 (GRCm39) T625M probably benign Het
Ndufb5 T C 3: 32,801,930 (GRCm39) Y112H probably damaging Het
Npr3 A G 15: 11,883,494 (GRCm39) S312P probably damaging Het
Nuf2 A T 1: 169,344,191 (GRCm39) I125N probably damaging Het
Obox1 G A 7: 15,289,430 (GRCm39) G73D possibly damaging Het
Odad4 G A 11: 100,436,699 (GRCm39) G25R possibly damaging Het
Or51a43 G T 7: 103,717,412 (GRCm39) H275Q probably damaging Het
Or8g19 T A 9: 39,055,974 (GRCm39) F193I probably benign Het
Pcdhb15 T C 18: 37,607,820 (GRCm39) S351P probably damaging Het
Phc2 G T 4: 128,639,661 (GRCm39) R121L probably damaging Het
Pla2g2a A G 4: 138,560,653 (GRCm39) K87E probably benign Het
Plekhh2 T A 17: 84,905,408 (GRCm39) S1101T probably damaging Het
Ppp4r1 T C 17: 66,144,741 (GRCm39) I786T probably damaging Het
Prxl2a T C 14: 40,724,460 (GRCm39) E57G possibly damaging Het
Ros1 A T 10: 52,018,234 (GRCm39) probably null Het
Styxl2 A T 1: 165,927,023 (GRCm39) V863E probably benign Het
Trnt1 T A 6: 106,755,878 (GRCm39) L311* probably null Het
Vmn1r47 T A 6: 89,999,500 (GRCm39) L211M probably damaging Het
Zfp12 A G 5: 143,230,945 (GRCm39) E424G probably damaging Het
Zranb2 T A 3: 157,246,340 (GRCm39) Y17* probably null Het
Other mutations in Hspd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Hspd1 APN 1 55,120,285 (GRCm39) missense probably damaging 0.98
IGL01896:Hspd1 APN 1 55,118,268 (GRCm39) missense probably benign 0.01
IGL03295:Hspd1 APN 1 55,119,334 (GRCm39) missense probably benign 0.00
R0035:Hspd1 UTSW 1 55,122,942 (GRCm39) missense probably benign 0.05
R0051:Hspd1 UTSW 1 55,121,205 (GRCm39) unclassified probably benign
R0051:Hspd1 UTSW 1 55,121,205 (GRCm39) unclassified probably benign
R1326:Hspd1 UTSW 1 55,119,418 (GRCm39) splice site probably null
R2163:Hspd1 UTSW 1 55,117,697 (GRCm39) unclassified probably benign
R2851:Hspd1 UTSW 1 55,120,256 (GRCm39) missense probably damaging 1.00
R2852:Hspd1 UTSW 1 55,120,256 (GRCm39) missense probably damaging 1.00
R2853:Hspd1 UTSW 1 55,120,256 (GRCm39) missense probably damaging 1.00
R4196:Hspd1 UTSW 1 55,126,068 (GRCm39) missense probably benign
R5590:Hspd1 UTSW 1 55,123,928 (GRCm39) missense probably damaging 1.00
R6600:Hspd1 UTSW 1 55,117,777 (GRCm39) missense probably benign 0.02
R7120:Hspd1 UTSW 1 55,118,388 (GRCm39) missense probably benign 0.01
R7604:Hspd1 UTSW 1 55,119,496 (GRCm39) missense probably benign 0.00
R7814:Hspd1 UTSW 1 55,117,803 (GRCm39) missense possibly damaging 0.90
R7980:Hspd1 UTSW 1 55,117,785 (GRCm39) missense possibly damaging 0.50
R8059:Hspd1 UTSW 1 55,120,883 (GRCm39) missense possibly damaging 0.90
R8472:Hspd1 UTSW 1 55,117,505 (GRCm39) missense probably benign 0.03
R8709:Hspd1 UTSW 1 55,120,922 (GRCm39) missense probably benign 0.01
R9466:Hspd1 UTSW 1 55,119,483 (GRCm39) missense probably benign 0.03
Z1177:Hspd1 UTSW 1 55,119,425 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTAAAGGTTAAGAGTACAGGGTC -3'
(R):5'- TCGCTGTAGGGAAGAACTGTG -3'

Sequencing Primer
(F):5'- GCCTGAATGAAGCCTCAGTTC -3'
(R):5'- AACTGTGATTATTGAACAGAGTTGGG -3'
Posted On 2016-11-21