Mutagenetix > Incidental Mutation

Incidental Mutation 'R2163:Hspd1'

266080

Institutional Source

Beutler Lab

Gene Symbol

Hspd1

Ensembl Gene

ENSMUSG00000025980

Gene Name

heat shock protein 1 (chaperonin)

Synonyms

Hsp60

MMRRC Submission

040166-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2163 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55116994-55127402 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 55117697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119336 (fasta)

Gene Model

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

AlphaFold

P63038

Predicted Effect

silent
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

silent
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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (76/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	C	A	14: 67,175,997 (GRCm39)	T64K	unknown	Het
Ablim2	T	C	5: 35,959,697 (GRCm39)		probably benign	Het
Acp4	T	C	7: 43,905,400 (GRCm39)	D107G	probably damaging	Het
Adamts2	T	A	11: 50,679,632 (GRCm39)	C871S	probably benign	Het
Adamts3	A	G	5: 89,856,577 (GRCm39)	V332A	probably damaging	Het
Alkal1	C	T	1: 6,459,736 (GRCm39)	T104M	probably benign	Het
Astn1	A	G	1: 158,329,720 (GRCm39)	S192G	probably damaging	Het
Axdnd1	A	C	1: 156,219,573 (GRCm39)	V337G	probably damaging	Het
Baiap2l2	T	C	15: 79,143,395 (GRCm39)	D481G	possibly damaging	Het
Cacna2d1	C	T	5: 16,567,317 (GRCm39)	T964I	probably damaging	Het
Carf	T	C	1: 60,186,645 (GRCm39)		probably benign	Het
Catsper2	T	C	2: 121,230,656 (GRCm39)	D295G	probably damaging	Het
Cdh1	A	G	8: 107,375,713 (GRCm39)	T84A	probably benign	Het
Chd8	T	A	14: 52,436,275 (GRCm39)	H2508L	possibly damaging	Het
Chl1	A	T	6: 103,688,192 (GRCm39)	T284S	probably damaging	Het
Chtop	A	T	3: 90,409,518 (GRCm39)	M125K	probably benign	Het
Col14a1	T	A	15: 55,308,041 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,232,735 (GRCm39)		probably null	Het
Cyp2b10	A	T	7: 25,624,810 (GRCm39)		probably benign	Het
Cyp2c70	G	A	19: 40,149,163 (GRCm39)	H328Y	possibly damaging	Het
Dcbld1	A	G	10: 52,162,452 (GRCm39)	T77A	probably damaging	Het
Dnah6	A	T	6: 73,066,729 (GRCm39)		probably null	Het
Efhd1	A	T	1: 87,217,195 (GRCm39)	D104V	probably damaging	Het
Eif5b	A	T	1: 38,087,875 (GRCm39)	D957V	probably benign	Het
Eps15	T	A	4: 109,227,866 (GRCm39)	S549R	probably damaging	Het
Fbxo3	C	A	2: 103,885,330 (GRCm39)	H400N	probably benign	Het
Fcer1a	A	G	1: 173,050,264 (GRCm39)	V86A	probably damaging	Het
Fh1	A	G	1: 175,442,406 (GRCm39)	M148T	possibly damaging	Het
Foxc1	C	A	13: 31,992,586 (GRCm39)	H466N	unknown	Het
Gadl1	T	A	9: 115,778,626 (GRCm39)	I180N	possibly damaging	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm21718	T	C	14: 51,555,223 (GRCm39)		noncoding transcript	Het
Hivep2	T	A	10: 14,003,970 (GRCm39)	Y189*	probably null	Het
Hoxd13	T	A	2: 74,499,413 (GRCm39)	S254T	possibly damaging	Het
Il1r1	A	G	1: 40,334,023 (GRCm39)	M198V	probably benign	Het
Katnal1	T	A	5: 148,825,746 (GRCm39)	I362F	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Mybpc1	T	C	10: 88,376,804 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,407,291 (GRCm39)		probably null	Het
Nell2	G	T	15: 95,327,859 (GRCm39)	N301K	probably damaging	Het
Nenf	T	A	1: 191,042,132 (GRCm39)	D108V	probably damaging	Het
Nfkbiz	T	C	16: 55,638,581 (GRCm39)	N293S	probably benign	Het
Nipbl	T	C	15: 8,366,403 (GRCm39)	K1229E	probably damaging	Het
Nlrp4a	T	C	7: 26,152,822 (GRCm39)	F631L	probably benign	Het
Nrp1	T	A	8: 129,224,352 (GRCm39)	V705E	probably damaging	Het
Nsf	G	C	11: 103,754,159 (GRCm39)	A459G	possibly damaging	Het
Or1af1	A	G	2: 37,110,089 (GRCm39)	E196G	probably damaging	Het
Or5w10	A	G	2: 87,375,238 (GRCm39)	S217P	probably damaging	Het
Pdia4	C	T	6: 47,775,341 (GRCm39)	D490N	possibly damaging	Het
Pinlyp	T	A	7: 24,241,226 (GRCm39)	Y192F	probably benign	Het
Pkd2	T	C	5: 104,603,543 (GRCm39)		probably benign	Het
Ppara	A	G	15: 85,685,247 (GRCm39)	K399E	probably benign	Het
Ppp4r2	C	A	6: 100,842,047 (GRCm39)	N169K	probably damaging	Het
Prom1	T	A	5: 44,171,505 (GRCm39)	E632V	possibly damaging	Het
Rpap3	T	A	15: 97,578,229 (GRCm39)	Y562F	possibly damaging	Het
Rsph14	T	A	10: 74,793,611 (GRCm39)	K263N	probably damaging	Het
Sanbr	T	C	11: 23,526,826 (GRCm39)		probably benign	Het
Scn11a	T	G	9: 119,584,091 (GRCm39)	D1508A	probably damaging	Het
Scn7a	T	C	2: 66,506,300 (GRCm39)	T1530A	probably damaging	Het
Sec14l1	T	A	11: 117,034,108 (GRCm39)		probably null	Het
Slc4a4	A	G	5: 89,362,435 (GRCm39)	I840V	probably damaging	Het
Slco1a8	G	A	6: 141,926,664 (GRCm39)	T554I	possibly damaging	Het
Slco1c1	T	A	6: 141,505,478 (GRCm39)	V419D	probably benign	Het
Sltm	T	A	9: 70,498,964 (GRCm39)	F1013I	probably damaging	Het
Spam1	A	G	6: 24,796,846 (GRCm39)	K266E	probably benign	Het
Syt15	A	G	14: 33,948,073 (GRCm39)	E306G	probably benign	Het
Tap1	A	T	17: 34,408,447 (GRCm39)		probably null	Het
Tbc1d16	G	C	11: 119,045,904 (GRCm39)		probably benign	Het
Tex47	T	C	5: 7,355,022 (GRCm39)	Y68H	probably damaging	Het
Ttn	T	C	2: 76,642,845 (GRCm39)	T13264A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubxn2a	A	T	12: 4,935,757 (GRCm39)	F131Y	probably damaging	Het
Usp40	T	C	1: 87,923,580 (GRCm39)		probably benign	Het
Vmn1r170	T	C	7: 23,306,462 (GRCm39)	L288P	probably damaging	Het
Vmn1r175	A	G	7: 23,508,352 (GRCm39)	Y92H	probably benign	Het
Wdpcp	G	T	11: 21,835,015 (GRCm39)	E673*	probably null	Het
Zfr	T	A	15: 12,162,309 (GRCm39)	L820I	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
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
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

Posted On

2015-02-05