Incidental Mutation 'IGL03295:Hspd1'
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ID416051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hspd1
Ensembl Gene ENSMUSG00000025980
Gene Nameheat shock protein 1 (chaperonin)
SynonymsHsp60
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03295
Quality Score
Status
Chromosome1
Chromosomal Location55077835-55088243 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 55080175 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 381 (T381I)
Ref Sequence ENSEMBL: ENSMUSP00000027123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027123] [ENSMUST00000127861] [ENSMUST00000144077]
Predicted Effect probably benign
Transcript: ENSMUST00000027123
AA Change: T381I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000027123
Gene: ENSMUSG00000025980
AA Change: T381I

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
Coding Region Coverage
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,243,056 probably benign Het
Adamts5 T C 16: 85,877,945 T444A probably damaging Het
Aldh18a1 T C 19: 40,562,942 E522G probably damaging Het
Bbx T C 16: 50,224,564 T437A probably damaging Het
Bsx A G 9: 40,874,447 probably benign Het
C330027C09Rik T C 16: 48,994,341 S22P probably damaging Het
Cdc42bpa A G 1: 180,150,204 N729S probably benign Het
Cdk1 G T 10: 69,342,543 H162Q possibly damaging Het
Chrac1 A G 15: 73,093,596 probably benign Het
Ddx60 A T 8: 61,956,121 D397V possibly damaging Het
Edn2 T A 4: 120,161,981 C56S probably damaging Het
Gm13103 G A 4: 143,853,189 C448Y probably damaging Het
Gm4952 T C 19: 12,618,327 V27A probably benign Het
Herc1 T A 9: 66,396,703 S763T possibly damaging Het
Krt2 T A 15: 101,816,429 I249F probably damaging Het
Lman2l T C 1: 36,438,811 D148G probably damaging Het
Lrp1b C T 2: 40,678,987 probably null Het
Mier3 C A 13: 111,703,681 T51K probably benign Het
Ppp1r36 C T 12: 76,438,418 P305L probably damaging Het
Prdm1 T C 10: 44,439,870 I790V probably damaging Het
Sephs2 T C 7: 127,272,769 E384G possibly damaging Het
Sipa1l1 T A 12: 82,432,940 W1466R probably damaging Het
Snai2 T C 16: 14,706,774 L48P possibly damaging Het
Stt3a A G 9: 36,763,331 probably null Het
Synj1 T A 16: 90,938,430 N1545I probably benign Het
Vav2 A T 2: 27,275,029 S607T possibly damaging Het
Wdr27 T C 17: 14,934,575 K27E possibly damaging Het
Xcl1 A T 1: 164,935,435 V19E unknown Het
Xlr3c A T X: 73,257,634 probably null Het
Zbtb44 T A 9: 31,053,457 D54E probably benign Het
Zscan21 A G 5: 138,125,278 D73G possibly damaging Het
Other mutations in Hspd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Hspd1 APN 1 55081126 missense probably damaging 0.98
IGL01896:Hspd1 APN 1 55079109 missense probably benign 0.01
R0035:Hspd1 UTSW 1 55083783 missense probably benign 0.05
R0051:Hspd1 UTSW 1 55082046 unclassified probably benign
R0051:Hspd1 UTSW 1 55082046 unclassified probably benign
R1326:Hspd1 UTSW 1 55080259 unclassified probably null
R2163:Hspd1 UTSW 1 55078538 unclassified probably benign
R2851:Hspd1 UTSW 1 55081097 missense probably damaging 1.00
R2852:Hspd1 UTSW 1 55081097 missense probably damaging 1.00
R2853:Hspd1 UTSW 1 55081097 missense probably damaging 1.00
R4196:Hspd1 UTSW 1 55086909 missense probably benign
R5590:Hspd1 UTSW 1 55084769 missense probably damaging 1.00
R5742:Hspd1 UTSW 1 55084607 missense probably benign 0.08
R6600:Hspd1 UTSW 1 55078618 missense probably benign 0.02
R7120:Hspd1 UTSW 1 55079229 missense probably benign 0.01
Posted On2016-08-02