Mutagenetix > Incidental Mutation

Incidental Mutation 'R4243:Hspa12b'

320281

Institutional Source

Beutler Lab

Gene Symbol

Hspa12b

Ensembl Gene

ENSMUSG00000074793

Gene Name

heat shock protein 12B

Synonyms

2700081N06Rik

MMRRC Submission

041643-MU

Accession Numbers

Essential gene?

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

Stock #

R4243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130969332-130987905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130983778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 293 (H293Y)

Ref Sequence

ENSEMBL: ENSMUSP00000096950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028800] [ENSMUST00000099349] [ENSMUST00000100763] [ENSMUST00000103188] [ENSMUST00000127862] [ENSMUST00000184121] [ENSMUST00000184535]

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

possibly damaging
Transcript: ENSMUST00000099349
AA Change: H293Y

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096950
Gene: ENSMUSG00000074793
AA Change: H293Y

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: ENSMUST00000100763

SMART Domains

Protein: ENSMUSP00000098326
Gene: ENSMUSG00000074793

Domain	Start	End	E-Value	Type
low complexity region	15	30	N/A	INTRINSIC
SCOP:d1bupa1	62	87	8e-4	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

noncoding transcript
Transcript: ENSMUST00000136838

Predicted Effect

probably benign
Transcript: ENSMUST00000184121

Predicted Effect

probably benign
Transcript: ENSMUST00000184535

Meta Mutation Damage Score

0.1078

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	C	A	5: 114,951,855 (GRCm39)	R40L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,733,203 (GRCm39)		noncoding transcript	Het
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
4933409G03Rik	C	T	2: 68,423,887 (GRCm39)		probably benign	Het
Actr1b	T	C	1: 36,740,911 (GRCm39)	Y171C	possibly damaging	Het
Birc2	T	C	9: 7,834,386 (GRCm39)	T32A	probably benign	Het
Cdh13	T	A	8: 119,968,996 (GRCm39)	V451E	probably damaging	Het
Cdh20	C	T	1: 104,869,868 (GRCm39)	T196I	probably damaging	Het
Cdt1	A	G	8: 123,298,157 (GRCm39)	M383V	probably benign	Het
Chrna9	T	C	5: 66,092,379 (GRCm39)		probably null	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cspg4	T	C	9: 56,795,141 (GRCm39)	S959P	probably benign	Het
Ctbp2	A	G	7: 132,600,583 (GRCm39)	I647T	probably benign	Het
Cyld	A	T	8: 89,457,383 (GRCm39)	R536*	probably null	Het
Ddx1	A	T	12: 13,290,910 (GRCm39)	C68*	probably null	Het
Dock10	T	A	1: 80,544,472 (GRCm39)	E905V	probably benign	Het
Dynlt1b	T	C	17: 6,697,639 (GRCm39)		probably null	Het
Faxc	G	A	4: 21,982,491 (GRCm39)	R310Q	probably benign	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Frmd5	C	A	2: 121,393,363 (GRCm39)		probably null	Het
Gm5174	C	A	10: 86,492,144 (GRCm39)		noncoding transcript	Het
Jakmip2	A	G	18: 43,710,501 (GRCm39)	V234A	probably benign	Het
Jkamp	G	A	12: 72,140,799 (GRCm39)	V108I	probably benign	Het
Mettl23	T	C	11: 116,739,126 (GRCm39)	V72A	possibly damaging	Het
Morc2b	T	A	17: 33,355,375 (GRCm39)	Y799F	probably benign	Het
Mtmr11	T	A	3: 96,075,393 (GRCm39)	C358S	probably damaging	Het
Myo18b	G	A	5: 112,840,261 (GRCm39)	H2511Y	possibly damaging	Het
Mysm1	A	G	4: 94,857,248 (GRCm39)	V120A	probably benign	Het
Nhlrc1	C	T	13: 47,167,502 (GRCm39)	V252I	probably benign	Het
Or12j3	G	A	7: 139,952,857 (GRCm39)	A222V	probably benign	Het
Or2ak6	T	G	11: 58,593,277 (GRCm39)	L250R	probably damaging	Het
Or7g35	C	A	9: 19,495,854 (GRCm39)	T7K	probably damaging	Het
Pard3	G	A	8: 128,098,128 (GRCm39)	A390T	probably benign	Het
Pcdhga1	T	A	18: 37,796,605 (GRCm39)	D536E	probably damaging	Het
Phactr3	G	A	2: 177,924,982 (GRCm39)		probably null	Het
Pkn2	T	C	3: 142,526,339 (GRCm39)	N413D	possibly damaging	Het
Ppp1r12b	T	G	1: 134,709,846 (GRCm39)		probably benign	Het
Ptprf	A	G	4: 118,083,649 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,304 (GRCm39)		probably null	Het
Rasa1	A	G	13: 85,392,314 (GRCm39)	Y407H	probably damaging	Het
Rfx7	A	G	9: 72,499,051 (GRCm39)	T72A	possibly damaging	Het
Slc27a1	A	G	8: 72,037,617 (GRCm39)	T535A	probably benign	Het
Stra6	G	A	9: 58,050,309 (GRCm39)	A237T	probably benign	Het
Tor1aip2	A	G	1: 155,941,182 (GRCm39)	E496G	probably damaging	Het
Usp47	A	G	7: 111,707,836 (GRCm39)	D1294G	probably damaging	Het
Utp20	A	G	10: 88,643,187 (GRCm39)		probably null	Het
Vmn1r79	T	A	7: 11,910,971 (GRCm39)	C284*	probably null	Het
Zar1	T	C	5: 72,737,736 (GRCm39)	E121G	possibly damaging	Het
Zbtb40	C	T	4: 136,745,860 (GRCm39)	A58T	probably benign	Het
Zfhx3	A	G	8: 109,518,952 (GRCm39)	T25A	probably damaging	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
IGL02145:Hspa12b	APN	2	130,985,655 (GRCm39)	unclassified	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGCCTGATTGTACCAAGG -3'
(R):5'- CTCCTGAAGGAATGAGTTAGGG -3'

Sequencing Primer
(F):5'- GGCCTGATTGTACCAAGGTCTAC -3'
(R):5'- AATGAGTTAGGGGTGCAGCTG -3'

Posted On

2015-06-12