Incidental Mutation 'R2851:Hspd1'
ID 252160
Institutional Source Beutler Lab
Gene Symbol Hspd1
Ensembl Gene ENSMUSG00000025980
Gene Name heat shock protein 1 (chaperonin)
Synonyms Hsp60
MMRRC Submission 040444-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2851 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 55116994-55127402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55120256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 315 (D315E)
Ref Sequence ENSEMBL: ENSMUSP00000027123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027123] [ENSMUST00000127861] [ENSMUST00000144077]
AlphaFold P63038
Predicted Effect probably damaging
Transcript: ENSMUST00000027123
AA Change: D315E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027123
Gene: ENSMUSG00000025980
AA Change: D315E

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 47 550 1.8e-87 PFAM
low complexity region 557 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127861
SMART Domains Protein: ENSMUSP00000119336
Gene: ENSMUSG00000025980

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 47 202 2.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144077
SMART Domains Protein: ENSMUSP00000122947
Gene: ENSMUSG00000025980

DomainStartEndE-ValueType
Pfam:Cpn60_TCP1 47 142 1.2e-32 PFAM
Meta Mutation Damage Score 0.8456 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (61/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2cl T C 9: 110,723,203 (GRCm39) S636P probably damaging Het
Arhgef4 A C 1: 34,763,129 (GRCm39) D795A unknown Het
Bank1 A T 3: 135,948,701 (GRCm39) S159T possibly damaging Het
Catsperd A G 17: 56,967,169 (GRCm39) probably null Het
Ccdc85a A G 11: 28,342,942 (GRCm39) probably benign Het
Ceacam11 T C 7: 17,712,451 (GRCm39) I300T probably benign Het
Cmtm5 A G 14: 55,175,512 (GRCm39) probably benign Het
Cnn3 C T 3: 121,243,702 (GRCm39) probably benign Het
Col12a1 A T 9: 79,585,614 (GRCm39) N1254K probably damaging Het
Crispld2 T A 8: 120,740,828 (GRCm39) L107Q probably damaging Het
Ctr9 C T 7: 110,652,653 (GRCm39) R984C unknown Het
Cyp1b1 T C 17: 80,017,649 (GRCm39) N502S probably benign Het
Cyp51 A T 5: 4,149,183 (GRCm39) D231E probably damaging Het
Depdc5 A G 5: 33,081,515 (GRCm39) E559G probably damaging Het
Dnai4 A G 4: 102,953,858 (GRCm39) S114P probably benign Het
Dscam T C 16: 96,423,915 (GRCm39) T1677A possibly damaging Het
Dzip1 A C 14: 119,159,857 (GRCm39) M117R possibly damaging Het
Ednrb G T 14: 104,059,110 (GRCm39) S305R probably benign Het
Emilin1 A G 5: 31,074,509 (GRCm39) D250G probably benign Het
Frrs1 A G 3: 116,678,778 (GRCm39) N200S probably benign Het
Fstl5 T A 3: 76,337,045 (GRCm39) probably benign Het
Gmcl1 A C 6: 86,703,159 (GRCm39) S92A probably damaging Het
Gpr62 T C 9: 106,341,911 (GRCm39) E339G probably benign Het
Il19 A G 1: 130,863,694 (GRCm39) V99A possibly damaging Het
Itga9 G A 9: 118,465,604 (GRCm39) E153K probably damaging Het
Itgad T A 7: 127,803,732 (GRCm39) V42E probably benign Het
Krt82 T C 15: 101,456,870 (GRCm39) Y170C probably damaging Het
Map4k4 T A 1: 40,039,915 (GRCm39) probably benign Het
Mdc1 T A 17: 36,159,902 (GRCm39) V670D probably benign Het
Mfsd4b2 T A 10: 39,798,119 (GRCm39) S79C probably benign Het
Mre11a A G 9: 14,737,843 (GRCm39) E599G probably benign Het
Mthfsd G A 8: 121,832,512 (GRCm39) T60I probably benign Het
Mycbp2 A T 14: 103,381,769 (GRCm39) F3724I probably damaging Het
Nceh1 A G 3: 27,295,504 (GRCm39) Y255C probably damaging Het
Ncoa2 C T 1: 13,257,113 (GRCm39) V129I probably damaging Het
Ndufb5 T C 3: 32,800,600 (GRCm39) F58L probably damaging Het
Npsr1 A G 9: 24,221,301 (GRCm39) probably benign Het
Obscn C A 11: 58,920,844 (GRCm39) probably null Het
Pdzd7 C G 19: 45,016,113 (GRCm39) V1003L probably benign Het
Pias3 A G 3: 96,610,853 (GRCm39) E377G possibly damaging Het
Pilra T A 5: 137,834,342 (GRCm39) M14L probably benign Het
Pkhd1 T C 1: 20,128,526 (GRCm39) Q4059R probably benign Het
Ppa2 A T 3: 133,026,764 (GRCm39) probably null Het
Proser1 G A 3: 53,387,966 (GRCm39) A885T probably benign Het
Robo2 A G 16: 73,758,776 (GRCm39) I665T probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Secisbp2 G A 13: 51,808,671 (GRCm39) probably null Het
Setbp1 T A 18: 78,967,211 (GRCm39) Q171L probably benign Het
Spata1 A G 3: 146,193,295 (GRCm39) L96P possibly damaging Het
Srprb G A 9: 103,076,038 (GRCm39) Q800* probably null Het
Stk11ip A G 1: 75,505,911 (GRCm39) probably benign Het
Tbl3 T C 17: 24,921,557 (GRCm39) T445A probably damaging Het
Tdrd12 G A 7: 35,184,798 (GRCm39) T705M probably damaging Het
Tek A G 4: 94,708,461 (GRCm39) T340A probably benign Het
Timm22 G A 11: 76,304,925 (GRCm39) A188T probably damaging Het
Tmeff1 T A 4: 48,604,692 (GRCm39) probably null Het
Tmprss12 C A 15: 100,180,296 (GRCm39) T112K possibly damaging Het
U2surp A G 9: 95,382,735 (GRCm39) probably null Het
Vmn2r84 T A 10: 130,230,036 (GRCm39) E25D probably benign Het
Wdr62 A T 7: 29,960,862 (GRCm39) N22K possibly damaging Het
Zfp653 A T 9: 21,968,862 (GRCm39) D426E probably benign Het
Zfyve28 G A 5: 34,354,006 (GRCm39) P834L probably damaging Het
Zkscan16 A G 4: 58,957,364 (GRCm39) T549A possibly damaging 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
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
R5742:Hspd1 UTSW 1 55,123,766 (GRCm39) missense probably benign 0.08
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'- TCCAATACCTGTGTACCAAGC -3'
(R):5'- TTCAGACCAGGAGTTGTGGG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- TTCAGACCAGGAGTTGTGGGAAAAG -3'
Posted On 2014-12-04