Mutagenetix > Incidental Mutation

Incidental Mutation 'R0035:Hspd1'

19385

Institutional Source

Beutler Lab

Gene Symbol

Hspd1

Ensembl Gene

ENSMUSG00000025980

Gene Name

heat shock protein 1 (chaperonin)

Synonyms

Hsp60

MMRRC Submission

038329-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0035 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

55116994-55127402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55122942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 151 (V151A)

Ref Sequence

ENSEMBL: ENSMUSP00000119336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027123] [ENSMUST00000075242] [ENSMUST00000127861] [ENSMUST00000144077]

AlphaFold

P63038

Predicted Effect

probably benign
Transcript: ENSMUST00000027123
AA Change: V151A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000027123
Gene: ENSMUSG00000025980
AA Change: V151A

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: ENSMUST00000075242

SMART Domains

Protein: ENSMUSP00000074724
Gene: ENSMUSG00000073676

Domain	Start	End	E-Value	Type
Cpn10	8	100	2.91e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127861
AA Change: V151A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000119336
Gene: ENSMUSG00000025980
AA Change: V151A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134628

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

Meta Mutation Damage Score

0.1442

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

99% (70/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	T	C	7: 81,438,297 (GRCm39)	T20A	probably benign	Het
Aadacl4	A	G	4: 144,344,511 (GRCm39)	T96A	probably damaging	Het
Abcb6	A	G	1: 75,151,651 (GRCm39)	V473A	possibly damaging	Het
Abo	C	A	2: 26,733,385 (GRCm39)	K273N	possibly damaging	Het
Acvr1c	A	G	2: 58,205,791 (GRCm39)		probably benign	Het
Adcy8	A	T	15: 64,571,217 (GRCm39)	V1142D	probably benign	Het
Akna	T	A	4: 63,300,682 (GRCm39)	H591L	probably benign	Het
Aox1	T	C	1: 58,393,581 (GRCm39)	V1247A	probably benign	Het
Ap4b1	T	C	3: 103,727,980 (GRCm39)		probably benign	Het
Armh3	A	T	19: 45,879,679 (GRCm39)	M558K	probably damaging	Het
Atm	A	G	9: 53,424,480 (GRCm39)	V607A	probably benign	Het
Bltp1	T	A	3: 37,041,747 (GRCm39)	Y2708*	probably null	Het
Cass4	C	T	2: 172,258,412 (GRCm39)	P137S	probably damaging	Het
Cfap53	A	G	18: 74,433,278 (GRCm39)	E121G	probably damaging	Het
Chmp6	T	C	11: 119,807,508 (GRCm39)	V31A	probably damaging	Het
Clec4a3	T	A	6: 122,944,508 (GRCm39)	Y185N	probably damaging	Het
Clic5	A	G	17: 44,586,200 (GRCm39)	T230A	probably damaging	Het
Clspn	G	T	4: 126,458,796 (GRCm39)		probably null	Het
Cntn1	T	A	15: 92,129,969 (GRCm39)		probably benign	Het
Col4a3	G	A	1: 82,650,474 (GRCm39)	G577R	unknown	Het
Defa21	T	A	8: 21,515,784 (GRCm39)		probably null	Het
Deup1	T	C	9: 15,511,117 (GRCm39)	R221G	possibly damaging	Het
Dnah8	A	T	17: 30,902,595 (GRCm39)		probably benign	Het
Dnase1l2	A	G	17: 24,660,049 (GRCm39)	V273A	probably damaging	Het
Gm5134	T	A	10: 75,829,698 (GRCm39)	F328Y	probably benign	Het
Golph3	A	T	15: 12,339,776 (GRCm39)	E96D	probably damaging	Het
Htr1f	A	C	16: 64,746,860 (GRCm39)	I144S	probably damaging	Het
Il23r	A	G	6: 67,450,772 (GRCm39)		probably benign	Het
Il25	A	G	14: 55,170,553 (GRCm39)	E42G	probably damaging	Het
Il36b	A	T	2: 24,049,890 (GRCm39)	H167L	probably benign	Het
Klrb1-ps1	C	T	6: 129,106,306 (GRCm39)	A149V	possibly damaging	Het
Kmt2e	T	A	5: 23,690,619 (GRCm39)		probably benign	Het
Ktn1	A	G	14: 47,967,836 (GRCm39)	N1167D	probably benign	Het
Lama4	T	A	10: 38,948,734 (GRCm39)	D832E	probably benign	Het
Map1b	A	G	13: 99,571,846 (GRCm39)	S292P	probably damaging	Het
Map6	C	T	7: 98,966,815 (GRCm39)	T345I	probably damaging	Het
Mark2	A	T	19: 7,262,017 (GRCm39)		probably benign	Het
Me3	C	A	7: 89,500,967 (GRCm39)	H559Q	probably benign	Het
Myo1b	A	G	1: 51,817,541 (GRCm39)	F574L	probably damaging	Het
Nos2	T	C	11: 78,836,553 (GRCm39)	S431P	probably damaging	Het
Nr1h5	T	A	3: 102,856,889 (GRCm39)	K208*	probably null	Het
Nup214	T	C	2: 31,880,379 (GRCm39)		probably null	Het
Obp2b	T	C	2: 25,628,645 (GRCm39)	L133P	probably damaging	Het
Or14a259	T	C	7: 86,013,395 (GRCm39)	D50G	possibly damaging	Het
Or5k1	A	T	16: 58,617,485 (GRCm39)	C241*	probably null	Het
Osbp2	C	T	11: 3,667,997 (GRCm39)		probably benign	Het
Ptafr	C	A	4: 132,306,864 (GRCm39)	L85I	probably benign	Het
Ptprk	T	A	10: 28,139,504 (GRCm39)	Y76*	probably null	Het
Rad50	A	G	11: 53,545,854 (GRCm39)		probably benign	Het
Rasef	G	T	4: 73,681,091 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Tbc1d1	T	A	5: 64,414,080 (GRCm39)	I18N	probably damaging	Het
Tbc1d17	T	C	7: 44,490,832 (GRCm39)	N587D	probably benign	Het
Trank1	A	T	9: 111,195,844 (GRCm39)	K1289N	probably benign	Het
Tspyl3	A	G	2: 153,066,240 (GRCm39)	S333P	probably damaging	Het
Ush2a	G	A	1: 188,089,085 (GRCm39)	V347I	probably benign	Het
Usp17le	G	T	7: 104,418,269 (GRCm39)	S291*	probably null	Het
Usp24	T	A	4: 106,225,224 (GRCm39)	S619T	probably benign	Het
Vmn2r10	T	C	5: 109,145,467 (GRCm39)		probably benign	Het
Vmn2r78	A	G	7: 86,569,413 (GRCm39)	E102G	probably benign	Het
Vwa3b	G	A	1: 37,204,770 (GRCm39)	V85I	possibly damaging	Het
Wwp1	A	C	4: 19,631,116 (GRCm39)	I639R	probably damaging	Het
Xpo5	A	G	17: 46,551,101 (GRCm39)	T1001A	probably benign	Het
Zc3h12c	A	T	9: 52,055,047 (GRCm39)	M235K	probably benign	Het
Zfp619	G	A	7: 39,186,706 (GRCm39)	G912D	probably damaging	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
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
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'- TTTGAACCCACGCAGCACAGAG -3'
(R):5'- ATGAGTAGGTCTtagccttccctgg -3'

Sequencing Primer
(F):5'- ATTAAGATCCAAATtagtaggcatgg -3'
(R):5'- gccattctgtcttagtctttagtc -3'

Posted On

2013-04-11