Mutagenetix > Incidental Mutation

Incidental Mutation 'R7120:Hspd1'

551903

Institutional Source

Beutler Lab

Gene Symbol

Hspd1

Ensembl Gene

ENSMUSG00000025980

Gene Name

heat shock protein 1 (chaperonin)

Synonyms

Hsp60

MMRRC Submission

045209-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7120 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55116994-55127402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55118388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 406 (V406A)

Ref Sequence

ENSEMBL: ENSMUSP00000027123 (fasta)

Gene Model

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

AlphaFold

P63038

Predicted Effect

probably benign
Transcript: ENSMUST00000027123
AA Change: V406A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000027123
Gene: ENSMUSG00000025980
AA Change: V406A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	T	3: 36,536,016 (GRCm39)	Q94L	unknown	Het
4933411K16Rik	C	T	19: 42,041,112 (GRCm39)	A81V	probably benign	Het
Actr3	A	C	1: 125,331,169 (GRCm39)	Y273*	probably null	Het
Aoc1	T	A	6: 48,883,531 (GRCm39)	I469N	probably damaging	Het
Arhgef28	A	T	13: 98,081,047 (GRCm39)	L1270Q	probably damaging	Het
Atp2c1	G	A	9: 105,297,385 (GRCm39)	Q780*	probably null	Het
Bbs10	T	C	10: 111,135,310 (GRCm39)	V141A	possibly damaging	Het
Bivm	A	T	1: 44,165,606 (GRCm39)	T19S	probably benign	Het
Cacna1h	T	G	17: 25,610,481 (GRCm39)	H675P	probably benign	Het
Cadps	T	A	14: 12,439,919 (GRCm38)	L1204F	probably damaging	Het
Cald1	T	C	6: 34,663,011 (GRCm39)		probably null	Het
Calr	A	G	8: 85,569,457 (GRCm39)	M357T	probably damaging	Het
Ccni	A	T	5: 93,331,190 (GRCm39)	Y260*	probably null	Het
Csrnp3	C	A	2: 65,853,354 (GRCm39)	T594K	probably damaging	Het
Dek	A	T	13: 47,253,659 (GRCm39)	M152K	unknown	Het
Depdc1b	T	C	13: 108,498,781 (GRCm39)	W155R	probably benign	Het
Ehd1	A	G	19: 6,347,591 (GRCm39)	K315R	probably benign	Het
Epn3	C	A	11: 94,383,254 (GRCm39)	R323S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxo10	T	A	4: 45,040,533 (GRCm39)	K891*	probably null	Het
Fras1	G	T	5: 96,900,819 (GRCm39)	G3013*	probably null	Het
Gbp2b	A	G	3: 142,312,507 (GRCm39)	T297A	probably benign	Het
Gbp7	T	C	3: 142,249,734 (GRCm39)	S402P	probably damaging	Het
Gclc	T	C	9: 77,694,032 (GRCm39)	Y329H	probably damaging	Het
Gfpt1	A	G	6: 87,064,375 (GRCm39)	H655R	probably benign	Het
Gm4787	C	A	12: 81,425,260 (GRCm39)	M299I	probably benign	Het
Grb7	C	A	11: 98,345,817 (GRCm39)	R532S	probably benign	Het
Hmcn1	A	T	1: 150,576,292 (GRCm39)	I2066N	probably damaging	Het
Hnrnpll	T	C	17: 80,341,486 (GRCm39)	T518A	probably benign	Het
Hps3	G	A	3: 20,065,705 (GRCm39)	R712W	probably damaging	Het
Igkv2-112	T	C	6: 68,197,510 (GRCm39)	F61L	probably benign	Het
Iqcf5	G	A	9: 106,392,995 (GRCm39)	R84H	probably damaging	Het
Itgad	T	A	7: 127,773,146 (GRCm39)	M1K	probably null	Het
Kmt2d	A	G	15: 98,758,946 (GRCm39)	S1292P	unknown	Het
Macc1	C	A	12: 119,409,480 (GRCm39)	Q83K	possibly damaging	Het
Map3k4	G	T	17: 12,490,354 (GRCm39)	A359E	probably damaging	Het
Mfap3	T	A	11: 57,419,043 (GRCm39)	C68S	probably damaging	Het
Mipep	C	T	14: 61,112,696 (GRCm39)	R660C	possibly damaging	Het
Morc2b	A	T	17: 33,354,787 (GRCm39)	L995Q	probably damaging	Het
Mrc1	A	G	2: 14,313,508 (GRCm39)	N913S	probably damaging	Het
N4bp1	C	A	8: 87,587,495 (GRCm39)	C481F	probably benign	Het
Nae1	A	G	8: 105,252,910 (GRCm39)		probably null	Het
Nup214	T	A	2: 31,941,054 (GRCm39)	V29E	probably benign	Het
Or1e30	A	T	11: 73,677,940 (GRCm39)	M59L	probably damaging	Het
Or8c11	T	C	9: 38,289,945 (GRCm39)	L250P	probably damaging	Het
Orai1	A	G	5: 123,167,535 (GRCm39)	E236G	possibly damaging	Het
P2rx7	A	G	5: 122,819,357 (GRCm39)	Y593C	probably benign	Het
Pcbp2	A	G	15: 102,383,113 (GRCm39)	D77G	possibly damaging	Het
Pcdha8	G	A	18: 37,126,840 (GRCm39)	V441M	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Plaa	A	G	4: 94,470,919 (GRCm39)	S406P	possibly damaging	Het
Plekhh1	C	A	12: 79,117,713 (GRCm39)	P903Q	probably benign	Het
Plekhh3	T	C	11: 101,059,064 (GRCm39)	E92G	probably damaging	Het
Ptpn9	T	C	9: 56,967,166 (GRCm39)	F463S	probably damaging	Het
Ptprn2	A	C	12: 116,835,676 (GRCm39)	E337A	probably benign	Het
Rubcn	C	T	16: 32,656,839 (GRCm39)	R527Q	probably damaging	Het
Samd3	C	T	10: 26,106,864 (GRCm39)	T73M	possibly damaging	Het
Sfxn4	T	A	19: 60,840,477 (GRCm39)	K173*	probably null	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Son	T	G	16: 91,467,414 (GRCm39)	N2258K	unknown	Het
Sspo	A	T	6: 48,442,505 (GRCm39)	H2000L	probably benign	Het
Syne1	C	T	10: 5,243,971 (GRCm39)	S2731N	probably benign	Het
Syt6	T	C	3: 103,494,673 (GRCm39)	Y213H	probably damaging	Het
Tkt	A	G	14: 30,281,779 (GRCm39)	N99S	probably benign	Het
Tlcd3b	T	C	7: 126,428,505 (GRCm39)	L221P	probably damaging	Het
Tmem258	G	A	19: 10,181,602 (GRCm39)		probably benign	Het
Tnks1bp1	T	C	2: 84,902,441 (GRCm39)	S1702P	probably damaging	Het
Tpte	A	G	8: 22,817,689 (GRCm39)	D225G	probably damaging	Het
Trak1	T	A	9: 121,289,564 (GRCm39)	F625L	probably benign	Het
Ttc33	G	T	15: 5,241,488 (GRCm39)	C77F	probably benign	Het
Ugt1a2	A	G	1: 88,128,522 (GRCm39)	H55R	probably damaging	Het
Vmn1r169	G	T	7: 23,277,444 (GRCm39)	V279L	probably benign	Het
Vmn2r25	T	C	6: 123,805,394 (GRCm39)	K488E	possibly damaging	Het
Vmn2r8	A	T	5: 108,956,504 (GRCm39)	D39E	possibly 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
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
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'- TTCTGGTCTTCATTAGCAGGC -3'
(R):5'- CAGCAGTACAGCTTGTGTGG -3'

Sequencing Primer
(F):5'- CTTTAATGAATCCAAGGCTGGGATGC -3'
(R):5'- GTTTTGAACTCTGCTGTAGCCCTAG -3'

Posted On

2019-05-15