Incidental Mutation 'R8059:Hspd1'
ID 619576
Institutional Source Beutler Lab
Gene Symbol Hspd1
Ensembl Gene ENSMUSG00000025980
Gene Name heat shock protein 1 (chaperonin)
Synonyms Hsp60
MMRRC Submission 067894-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8059 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 55116994-55127402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55120883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 269 (K269E)
Ref Sequence ENSEMBL: ENSMUSP00000027123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027123] [ENSMUST00000127861] [ENSMUST00000144077]
AlphaFold P63038
Predicted Effect possibly damaging
Transcript: ENSMUST00000027123
AA Change: K269E

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027123
Gene: ENSMUSG00000025980
AA Change: K269E

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,323,279 (GRCm39) M3372K probably benign Het
Abcg3 A T 5: 105,100,948 (GRCm39) probably null Het
Adam19 G A 11: 46,027,293 (GRCm39) probably benign Het
Adgrg6 G T 10: 14,344,794 (GRCm39) T53K probably damaging Het
Ccdc141 A C 2: 76,875,095 (GRCm39) L705R probably damaging Het
Cep78 A T 19: 15,958,876 (GRCm39) V156E probably benign Het
Cers2 A G 3: 95,229,982 (GRCm39) D342G probably damaging Het
Chl1 T A 6: 103,651,948 (GRCm39) I272N probably damaging Het
Defb30 A G 14: 63,273,383 (GRCm39) *77Q probably null Het
Dnai3 C G 3: 145,752,428 (GRCm39) R749S possibly damaging Het
Dnm3 A G 1: 161,911,708 (GRCm39) V63A probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Entpd2 G T 2: 25,288,096 (GRCm39) V107L probably damaging Het
Hectd1 T A 12: 51,837,161 (GRCm39) H799L possibly damaging Het
Hira T C 16: 18,730,901 (GRCm39) V200A probably damaging Het
Kcnj4 T C 15: 79,369,003 (GRCm39) S326G probably benign Het
Kctd19 T G 8: 106,122,983 (GRCm39) I144L probably benign Het
Lama4 T C 10: 38,842,057 (GRCm39) I36T probably benign Het
Lrrn3 T C 12: 41,504,216 (GRCm39) T34A probably benign Het
Maco1 A T 4: 134,555,359 (GRCm39) C371* probably null Het
Maml3 A G 3: 51,764,110 (GRCm39) S285P probably damaging Het
Man2b2 A G 5: 36,973,504 (GRCm39) Y492H probably damaging Het
Mapk10 G T 5: 103,114,478 (GRCm39) N303K probably damaging Het
Matn2 C T 15: 34,345,481 (GRCm39) R163C probably damaging Het
Mtmr7 C T 8: 41,034,564 (GRCm39) A253T probably damaging Het
Naca C T 10: 127,876,372 (GRCm39) P468L unknown Het
Nckap1l T C 15: 103,401,714 (GRCm39) S1084P possibly damaging Het
Nek11 T C 9: 105,040,173 (GRCm39) *629W probably null Het
Nfkb1 C T 3: 135,299,613 (GRCm39) A731T possibly damaging Het
Nop2 T C 6: 125,117,775 (GRCm39) V442A probably damaging Het
Oaz2 C T 9: 65,596,425 (GRCm39) P163L probably damaging Het
Or5p57 T C 7: 107,665,223 (GRCm39) T231A probably benign Het
Or6d14 C T 6: 116,533,434 (GRCm39) T16I possibly damaging Het
Or8k23 A G 2: 86,186,306 (GRCm39) V140A probably benign Het
Pabpc2 A T 18: 39,907,875 (GRCm39) N380I probably benign Het
Pax3 T C 1: 78,080,003 (GRCm39) D461G probably benign Het
Pds5b G T 5: 150,731,300 (GRCm39) R1443L unknown Het
Per1 G A 11: 68,997,309 (GRCm39) R828H probably damaging Het
Phlpp2 T A 8: 110,622,189 (GRCm39) S144T probably benign Het
Plod1 A T 4: 148,012,941 (GRCm39) I207N probably damaging Het
Psmc6 A T 14: 45,578,260 (GRCm39) I208F probably damaging Het
Rev3l T C 10: 39,719,491 (GRCm39) S2494P probably damaging Het
Rgs3 T C 4: 62,521,214 (GRCm39) probably benign Het
Rtraf T C 14: 19,872,631 (GRCm39) probably benign Het
Slc17a6 T A 7: 51,294,792 (GRCm39) N166K probably damaging Het
Slc18a2 A T 19: 59,272,572 (GRCm39) T348S probably benign Het
Slc39a8 G T 3: 135,532,347 (GRCm39) A39S probably benign Het
Slc8a3 C T 12: 81,249,032 (GRCm39) G799S probably damaging Het
Sp1 T G 15: 102,316,337 (GRCm39) S46R possibly damaging Het
Spta1 A G 1: 174,045,936 (GRCm39) probably benign Het
Stab1 G A 14: 30,882,198 (GRCm39) P499L probably benign Het
Trav21-dv12 C A 14: 54,114,178 (GRCm39) D99E probably damaging Het
Trpv6 T G 6: 41,601,520 (GRCm39) I467L probably benign Het
Ttc41 A G 10: 86,548,842 (GRCm39) Y12C probably benign Het
Vmn1r233 T C 17: 21,214,698 (GRCm39) N84S probably benign Het
Vrtn T C 12: 84,696,690 (GRCm39) F480S probably benign Het
Zc3h13 C G 14: 75,565,250 (GRCm39) R788G unknown 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
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
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'- TGAGACCGCTTTAAGATGGAC -3'
(R):5'- ATCATGAGTTACTGGTCTCATTGTG -3'

Sequencing Primer
(F):5'- CCGCTTTAAGATGGACTCATAATGC -3'
(R):5'- ACTGGTCTCATTGTGGAAGTAAATTG -3'
Posted On 2020-01-23