Mutagenetix > Incidental Mutation

Incidental Mutation 'R0051:Hspd1'

192632

Institutional Source

Beutler Lab

Gene Symbol

Hspd1

Ensembl Gene

ENSMUSG00000025980

Gene Name

heat shock protein 1 (chaperonin)

Synonyms

Hsp60

MMRRC Submission

038345-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0051 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

55116994-55127402 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 55121205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122947 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027123] [ENSMUST00000127861] [ENSMUST00000144077]

AlphaFold

P63038

Predicted Effect

probably benign
Transcript: ENSMUST00000027123

SMART Domains

Protein: ENSMUSP00000027123
Gene: ENSMUSG00000025980

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	47	202	2.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144077

SMART Domains

Protein: ENSMUSP00000122947
Gene: ENSMUSG00000025980

Domain	Start	End	E-Value	Type
Pfam:Cpn60_TCP1	47	142	1.2e-32	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

100% (64/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,278,526 (GRCm39)		noncoding transcript	Het
Abr	T	A	11: 76,363,328 (GRCm39)	Q163L	probably benign	Het
Ankrd11	C	A	8: 123,616,481 (GRCm39)	C2457F	probably damaging	Het
Anks3	G	C	16: 4,765,613 (GRCm39)	T163S	probably benign	Het
Cacna1d	G	A	14: 29,833,052 (GRCm39)	P908S	probably damaging	Het
Ccdc146	C	A	5: 21,521,902 (GRCm39)	R374L	possibly damaging	Het
Cdc45	G	T	16: 18,613,524 (GRCm39)	A348E	probably damaging	Het
Cfap46	A	G	7: 139,255,951 (GRCm39)	C300R	probably damaging	Het
Cimap1a	C	A	7: 140,430,134 (GRCm39)		probably benign	Het
Coq2	T	C	5: 100,811,551 (GRCm39)	N146S	probably benign	Het
Dalrd3	T	C	9: 108,449,414 (GRCm39)	V120A	possibly damaging	Het
Dcp2	T	A	18: 44,538,441 (GRCm39)		probably benign	Het
Ddx39a	A	G	8: 84,447,251 (GRCm39)	K137R	possibly damaging	Het
Diaph3	A	G	14: 87,274,890 (GRCm39)		probably null	Het
Dmbt1	G	T	7: 130,721,225 (GRCm39)	R1668L	possibly damaging	Het
Dnah7a	T	G	1: 53,560,245 (GRCm39)		probably benign	Het
Dpp7	A	G	2: 25,246,107 (GRCm39)	Y49H	possibly damaging	Het
Drd5	A	G	5: 38,477,957 (GRCm39)	S317G	probably benign	Het
Ecpas	A	G	4: 58,832,729 (GRCm39)	L877S	probably damaging	Het
Ecsit	C	T	9: 21,987,584 (GRCm39)	V152I	probably benign	Het
Eeig1	G	A	2: 32,448,065 (GRCm39)	R58Q	possibly damaging	Het
Emc1	T	A	4: 139,102,474 (GRCm39)	M923K	possibly damaging	Het
Fcrl6	A	T	1: 172,426,320 (GRCm39)	L159Q	probably benign	Het
Frrs1	T	C	3: 116,678,946 (GRCm39)		probably benign	Het
Impg2	T	A	16: 56,078,411 (GRCm39)	S458T	probably damaging	Het
Klf17	T	C	4: 117,617,589 (GRCm39)	Y256C	probably damaging	Het
Lnx2	A	G	5: 146,966,163 (GRCm39)	F319L	probably damaging	Het
Mafg	G	T	11: 120,520,430 (GRCm39)	R57S	probably damaging	Het
Med13l	T	A	5: 118,880,720 (GRCm39)	W1271R	probably damaging	Het
Mrgprb1	A	G	7: 48,096,962 (GRCm39)	S24P	probably benign	Het
Mtrf1l	T	C	10: 5,763,384 (GRCm39)	E315G	probably damaging	Het
Naip1	T	C	13: 100,547,509 (GRCm39)	E1239G	probably damaging	Het
Ncaph2	T	C	15: 89,253,867 (GRCm39)	S320P	probably damaging	Het
Nek11	A	G	9: 105,095,738 (GRCm39)		probably benign	Het
Nlrp2	A	T	7: 5,325,333 (GRCm39)		probably benign	Het
Rbm26	A	C	14: 105,389,976 (GRCm39)	V216G	possibly damaging	Het
Rnf115	A	G	3: 96,692,338 (GRCm39)	D178G	probably damaging	Het
Rtel1	C	T	2: 180,992,449 (GRCm39)	Q424*	probably null	Het
Rwdd4a	A	G	8: 47,990,400 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,699,420 (GRCm39)	D890G	probably damaging	Het
Scarb1	C	A	5: 125,358,164 (GRCm39)		probably null	Het
Serpina10	A	G	12: 103,593,156 (GRCm39)		probably benign	Het
Slc12a5	T	A	2: 164,828,583 (GRCm39)	W508R	probably damaging	Het
Slc43a2	T	C	11: 75,453,676 (GRCm39)	C225R	probably damaging	Het
Slc6a9	T	C	4: 117,722,056 (GRCm39)	F440L	probably damaging	Het
Stac3	G	A	10: 127,344,017 (GRCm39)	R305H	probably damaging	Het
Stk32b	A	G	5: 37,616,940 (GRCm39)		probably benign	Het
Syna	A	T	5: 134,588,397 (GRCm39)	L184H	probably damaging	Het
Tmprss7	T	C	16: 45,494,302 (GRCm39)	N401S	probably damaging	Het
Tut4	T	G	4: 108,384,201 (GRCm39)	S1089R	probably damaging	Het
Yeats2	T	A	16: 20,012,474 (GRCm39)	Y557*	probably null	Het
Zfp352	T	C	4: 90,112,522 (GRCm39)	S221P	probably damaging	Het
Zfp575	A	G	7: 24,285,512 (GRCm39)	V43A	probably benign	Het
Zfp775	A	G	6: 48,597,706 (GRCm39)	T527A	probably benign	Het

Other mutations in Hspd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCATCTTGGAATTCACACTTTTGACCTG -3'
(R):5'- TGAACCCCTTAATGCCTATGCCATCT -3'

Sequencing Primer
(F):5'- CTTTTGACCTGTAAATACAGAGAGC -3'
(R):5'- ggaacccagaagaaacagcag -3'

Posted On

2014-05-20