Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02441:Hspa12b'

293995

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 #

IGL02441

Quality Score

Status

Chromosome

Chromosomal Location

130969332-130987905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130980515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 145 (M145V)

Ref Sequence

ENSEMBL: ENSMUSP00000096950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099349] [ENSMUST00000100763] [ENSMUST00000110225] [ENSMUST00000127862]

AlphaFold

Q9CZJ2

Predicted Effect

probably null
Transcript: ENSMUST00000099349
AA Change: M145V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096950
Gene: ENSMUSG00000074793
AA Change: M145V

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

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000110225

Predicted Effect

probably benign
Transcript: ENSMUST00000127862

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	C	T	7: 97,029,504 (GRCm39)	R179C	probably benign	Het
Als2	A	G	1: 59,254,631 (GRCm39)	M242T	probably damaging	Het
Atad1	C	T	19: 32,684,348 (GRCm39)	V17I	probably benign	Het
Bag4	A	G	8: 26,258,136 (GRCm39)	V397A	probably damaging	Het
Brd7	A	G	8: 89,070,218 (GRCm39)	V396A	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr4	T	A	9: 107,870,466 (GRCm39)	I123N	possibly damaging	Het
Cep68	A	G	11: 20,189,186 (GRCm39)	F609L	probably benign	Het
Clec3b	C	A	9: 122,980,178 (GRCm39)	P24T	possibly damaging	Het
Ctsg	T	A	14: 56,339,869 (GRCm39)	T9S	probably benign	Het
Dalrd3	A	T	9: 108,448,725 (GRCm39)		probably benign	Het
Dock6	A	T	9: 21,753,222 (GRCm39)	V286E	possibly damaging	Het
Dpep2	G	A	8: 106,711,723 (GRCm39)	A568V	probably benign	Het
Dph5	A	C	3: 115,720,390 (GRCm39)	Q192P	possibly damaging	Het
Eppin	T	A	2: 164,433,698 (GRCm39)	R37*	probably null	Het
Esyt1	A	G	10: 128,348,293 (GRCm39)	L865P	possibly damaging	Het
Exoc6b	A	G	6: 84,981,990 (GRCm39)	L102P	probably damaging	Het
Foxo6	A	G	4: 120,125,232 (GRCm39)	I521T	possibly damaging	Het
Guca1a	A	T	17: 47,705,578 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,241,430 (GRCm39)	F327S	probably damaging	Het
Hspa4	A	T	11: 53,161,809 (GRCm39)	S448T	probably benign	Het
Kbtbd6	T	C	14: 79,690,759 (GRCm39)	Y422H	probably benign	Het
Lama4	A	T	10: 38,937,441 (GRCm39)	D677V	probably benign	Het
Ldb1	C	T	19: 46,024,195 (GRCm39)	E111K	probably damaging	Het
Macf1	A	G	4: 123,281,029 (GRCm39)	S3823P	probably damaging	Het
Man1a2	G	A	3: 100,499,189 (GRCm39)	T415I	probably benign	Het
Map3k2	T	C	18: 32,333,099 (GRCm39)		probably benign	Het
Morn5	T	A	2: 35,945,038 (GRCm39)	Y87*	probably null	Het
Mpp3	T	C	11: 101,900,501 (GRCm39)	D326G	probably benign	Het
Mrgprx1	T	C	7: 47,671,336 (GRCm39)	H137R	probably benign	Het
Nav2	C	A	7: 49,102,260 (GRCm39)	P292T	probably damaging	Het
Nlrp2	C	A	7: 5,338,566 (GRCm39)		probably null	Het
Noxo1	G	A	17: 24,918,030 (GRCm39)	S112N	probably damaging	Het
Nudt9	G	T	5: 104,212,885 (GRCm39)	K319N	probably benign	Het
Or8b38	A	T	9: 37,973,233 (GRCm39)	I206L	probably benign	Het
Osbpl7	C	A	11: 96,958,528 (GRCm39)	Q728K	probably damaging	Het
Pcsk1	A	T	13: 75,280,282 (GRCm39)	E702D	probably benign	Het
Piezo2	T	C	18: 63,205,933 (GRCm39)	D1492G	probably damaging	Het
Plekhg1	A	G	10: 3,908,103 (GRCm39)	K1007E	possibly damaging	Het
Ppp6r3	G	A	19: 3,514,693 (GRCm39)	P141S	probably benign	Het
Prrt3	T	C	6: 113,473,977 (GRCm39)	T354A	probably damaging	Het
Ptk2	C	A	15: 73,192,675 (GRCm39)	W181L	probably benign	Het
Rif1	T	A	2: 51,995,527 (GRCm39)	H915Q	probably benign	Het
Selenbp2	G	T	3: 94,611,371 (GRCm39)	V361L	probably benign	Het
Slamf7	A	G	1: 171,468,625 (GRCm39)	L89P	probably damaging	Het
Slc6a21	G	A	7: 44,937,505 (GRCm39)	V599M	probably damaging	Het
Sltm	G	T	9: 70,494,467 (GRCm39)	S921I	probably damaging	Het
Smc4	C	A	3: 68,913,544 (GRCm39)	A44E	probably damaging	Het
Tdrd5	A	T	1: 156,087,513 (GRCm39)		probably benign	Het
Tead2	T	A	7: 44,866,845 (GRCm39)	I68N	probably damaging	Het
Tnks1bp1	T	A	2: 84,902,143 (GRCm39)	S1680T	probably damaging	Het
Topbp1	T	C	9: 103,197,438 (GRCm39)	V386A	possibly damaging	Het
Tpx2	C	A	2: 152,724,207 (GRCm39)	P328T	possibly damaging	Het
Ttn	T	A	2: 76,576,332 (GRCm39)	I24854F	probably damaging	Het
Zbtb11	G	A	16: 55,794,552 (GRCm39)	R43H	possibly damaging	Het
Zfp609	A	G	9: 65,610,611 (GRCm39)	L784S	possibly damaging	Het
Zfp703	T	C	8: 27,470,036 (GRCm39)	S567P	probably damaging	Het
Zfp750	A	G	11: 121,404,455 (GRCm39)	I140T	probably benign	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
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