Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02145:Hspa12b'

281735

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hspa12b

Ensembl Gene

ENSMUSG00000074793

Gene Name

heat shock protein 12B

Synonyms

2700081N06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL02145

Quality Score

Status

Chromosome

Chromosomal Location

130969332-130987905 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 130985655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028800] [ENSMUST00000099349] [ENSMUST00000103188] [ENSMUST00000127862] [ENSMUST00000133602] [ENSMUST00000184535] [ENSMUST00000184121]

AlphaFold

Q9CZJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000028800

SMART Domains

Protein: ENSMUSP00000028800
Gene: ENSMUSG00000027327

Domain	Start	End	E-Value	Type
Pfam:DUF4517	30	177	1.6e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099349

SMART Domains

Protein: ENSMUSP00000096950
Gene: ENSMUSG00000074793

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
SCOP:d1bupa1	62	248	3e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103188

SMART Domains

Protein: ENSMUSP00000099477
Gene: ENSMUSG00000027327

Domain	Start	End	E-Value	Type
Pfam:DUF4517	27	174	1.1e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127862

Predicted Effect

probably benign
Transcript: ENSMUST00000133602

SMART Domains

Protein: ENSMUSP00000115000
Gene: ENSMUSG00000027327

Domain	Start	End	E-Value	Type
Pfam:DUF4517	27	140	3.5e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136838

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152961

Predicted Effect

probably benign
Transcript: ENSMUST00000184535

Predicted Effect

probably benign
Transcript: ENSMUST00000184121

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an atypical heat shock protein 70 (Hsp70) ATPase domain and is therefore a distant member of the mammalian Hsp70 family. This gene may be involved in susceptibility to atherosclerosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agt	A	G	8: 125,291,187 (GRCm39)	L40P	probably damaging	Het
Ahnak	T	C	19: 8,980,219 (GRCm39)	I501T	probably benign	Het
Aldh2	A	G	5: 121,706,056 (GRCm39)	*196Q	probably null	Het
Ankrd65	A	G	4: 155,875,848 (GRCm39)	D23G	possibly damaging	Het
Anln	A	T	9: 22,250,292 (GRCm39)		probably null	Het
Armc3	C	T	2: 19,301,671 (GRCm39)	S663L	possibly damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Cul5	A	T	9: 53,546,375 (GRCm39)		probably benign	Het
Cyba	T	C	8: 123,151,796 (GRCm39)	I134V	probably damaging	Het
Cybb	T	A	X: 9,323,257 (GRCm39)	Q93H	probably damaging	Het
Cyp4f37	G	T	17: 32,849,009 (GRCm39)	K292N	probably benign	Het
Dmxl2	T	C	9: 54,281,981 (GRCm39)	I2850V	probably benign	Het
Ep300	T	C	15: 81,485,367 (GRCm39)	I118T	unknown	Het
Ercc6l	G	T	X: 101,189,148 (GRCm39)	P454T	probably benign	Het
Grxcr1	A	G	5: 68,267,821 (GRCm39)	E190G	probably damaging	Het
Heatr3	C	T	8: 88,871,227 (GRCm39)	R194C	probably benign	Het
Inpp5d	T	C	1: 87,642,777 (GRCm39)	V644A	probably damaging	Het
Kif26a	G	A	12: 112,143,409 (GRCm39)	R1221H	probably benign	Het
Klra8	T	C	6: 130,102,199 (GRCm39)	N79D	probably benign	Het
Kntc1	T	C	5: 123,900,661 (GRCm39)	I253T	possibly damaging	Het
Lamp5	T	C	2: 135,901,509 (GRCm39)	V111A	possibly damaging	Het
Lmo7	T	C	14: 102,139,659 (GRCm39)	S859P	probably benign	Het
Mgarp	T	C	3: 51,296,453 (GRCm39)	Q205R	possibly damaging	Het
Morf4l1	A	G	9: 89,975,848 (GRCm39)	Y315H	probably benign	Het
Naip6	A	T	13: 100,433,486 (GRCm39)	V1117E	possibly damaging	Het
Nipal1	A	G	5: 72,824,274 (GRCm39)	D206G	probably damaging	Het
Notch3	A	G	17: 32,373,715 (GRCm39)	S498P	probably benign	Het
Npepps	A	G	11: 97,109,328 (GRCm39)		probably null	Het
Or14c46	C	A	7: 85,918,466 (GRCm39)	C177F	probably damaging	Het
Or2ak6	T	C	11: 58,592,886 (GRCm39)	Y120H	probably damaging	Het
Phlpp1	A	G	1: 106,317,613 (GRCm39)	H1278R	probably damaging	Het
Pprc1	C	A	19: 46,053,329 (GRCm39)		probably benign	Het
Rab8b	A	T	9: 66,755,000 (GRCm39)		probably benign	Het
Ripor2	T	A	13: 24,901,554 (GRCm39)	I875N	probably damaging	Het
Samd9l	T	C	6: 3,374,105 (GRCm39)	E1052G	probably benign	Het
Slit3	A	T	11: 35,520,569 (GRCm39)	I569F	probably damaging	Het
Spata2l	C	T	8: 123,960,770 (GRCm39)	G173D	possibly damaging	Het
Stc2	T	G	11: 31,317,875 (GRCm39)		probably benign	Het
Tm6sf1	C	A	7: 81,513,000 (GRCm39)	Y65*	probably null	Het
Tspan15	A	G	10: 62,029,751 (GRCm39)		probably benign	Het
Vmn2r14	A	T	5: 109,368,454 (GRCm39)	Y179*	probably null	Het
Washc5	C	A	15: 59,241,060 (GRCm39)	V92L	probably benign	Het
Wiz	A	G	17: 32,575,893 (GRCm39)	S838P	probably benign	Het
Zp2	T	A	7: 119,739,074 (GRCm39)		probably null	Het

Other mutations in Hspa12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Hspa12b	APN	2	130,976,040 (GRCm39)	missense	probably damaging	1.00
IGL01643:Hspa12b	APN	2	130,984,617 (GRCm39)	missense	probably damaging	1.00
IGL02441:Hspa12b	APN	2	130,980,515 (GRCm39)	missense	probably null	1.00
R0356:Hspa12b	UTSW	2	130,986,719 (GRCm39)	missense	possibly damaging	0.78
R1458:Hspa12b	UTSW	2	130,987,112 (GRCm39)	missense	probably damaging	0.98
R1618:Hspa12b	UTSW	2	130,982,849 (GRCm39)	missense	probably benign
R1734:Hspa12b	UTSW	2	130,980,456 (GRCm39)	missense	possibly damaging	0.82
R2149:Hspa12b	UTSW	2	130,984,977 (GRCm39)	missense	probably damaging	0.98
R4091:Hspa12b	UTSW	2	130,975,408 (GRCm39)	splice site	probably null
R4234:Hspa12b	UTSW	2	130,980,932 (GRCm39)	missense	probably benign	0.00
R4235:Hspa12b	UTSW	2	130,980,932 (GRCm39)	missense	probably benign	0.00
R4243:Hspa12b	UTSW	2	130,983,778 (GRCm39)	missense	possibly damaging	0.90
R5133:Hspa12b	UTSW	2	130,981,428 (GRCm39)	missense	possibly damaging	0.86
R5134:Hspa12b	UTSW	2	130,981,428 (GRCm39)	missense	possibly damaging	0.86
R5228:Hspa12b	UTSW	2	130,984,884 (GRCm39)	missense	possibly damaging	0.82
R6358:Hspa12b	UTSW	2	130,978,986 (GRCm39)	critical splice donor site	probably benign
R7555:Hspa12b	UTSW	2	130,980,396 (GRCm39)	missense	probably damaging	1.00
R8035:Hspa12b	UTSW	2	130,982,859 (GRCm39)	missense	probably damaging	1.00
R8117:Hspa12b	UTSW	2	130,980,389 (GRCm39)	missense	possibly damaging	0.79
R8721:Hspa12b	UTSW	2	130,982,922 (GRCm39)	missense	probably benign	0.01
R8807:Hspa12b	UTSW	2	130,987,103 (GRCm39)	missense	probably benign	0.04
R9233:Hspa12b	UTSW	2	130,976,036 (GRCm39)	missense	probably damaging	1.00
X0065:Hspa12b	UTSW	2	130,986,481 (GRCm39)	splice site	probably null

Posted On

2015-04-16