Mutagenetix > Incidental Mutation

Incidental Mutation 'R9233:Hspa12b'

700334

Institutional Source

Beutler Lab

Gene Symbol

Hspa12b

Ensembl Gene

ENSMUSG00000074793

Gene Name

heat shock protein 12B

Synonyms

2700081N06Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130969332-130987905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130976036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 13 (Y13H)

Ref Sequence

ENSEMBL: ENSMUSP00000096950 (fasta)

Gene Model

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

AlphaFold

Q9CZJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000099349
AA Change: Y13H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096950
Gene: ENSMUSG00000074793
AA Change: Y13H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100763
AA Change: Y13H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098326
Gene: ENSMUSG00000074793
AA Change: Y13H

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: ENSMUST00000110225

Predicted Effect

unknown
Transcript: ENSMUST00000127862
AA Change: Y13H

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,082,496 (GRCm39)	T1159K	probably benign	Het
Acap1	A	G	11: 69,775,484 (GRCm39)	V479A	probably benign	Het
Actl11	A	G	9: 107,807,900 (GRCm39)	E741G	possibly damaging	Het
Anp32b	A	T	4: 46,463,909 (GRCm39)	I103F	probably damaging	Het
Ap4m1	C	T	5: 138,176,653 (GRCm39)	R418*	probably null	Het
Asic3	G	A	5: 24,618,837 (GRCm39)	R43H	probably damaging	Het
Bsn	A	G	9: 107,994,289 (GRCm39)	V662A	probably benign	Het
Cacna1a	C	T	8: 85,271,283 (GRCm39)	R479C	probably damaging	Het
Chchd3	A	T	6: 32,780,845 (GRCm39)	C214S	probably damaging	Het
Cspg4b	A	T	13: 113,502,754 (GRCm39)	Y100F		Het
Dock9	T	A	14: 121,820,781 (GRCm39)	T1538S	probably benign	Het
Dyrk1a	A	G	16: 94,466,913 (GRCm39)	M156V	probably benign	Het
Dzip1	T	C	14: 119,124,635 (GRCm39)	Q546R	probably benign	Het
Eef2	T	C	10: 81,014,668 (GRCm39)	V185A	probably benign	Het
Etv4	A	C	11: 101,662,532 (GRCm39)	V314G	probably damaging	Het
F5	T	A	1: 164,047,020 (GRCm39)	I2160N	probably damaging	Het
Fbp2	A	T	13: 62,989,622 (GRCm39)	V228E	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,519 (GRCm39)	Y444C	possibly damaging	Het
Fhip2a	T	A	19: 57,369,098 (GRCm39)	F360L	probably damaging	Het
Gcc1	A	G	6: 28,418,710 (GRCm39)	L541P	probably damaging	Het
Gemin4	A	G	11: 76,103,942 (GRCm39)	I273T	possibly damaging	Het
Gm32742	T	C	9: 51,056,387 (GRCm39)	K1193E	possibly damaging	Het
Gmps	C	T	3: 63,924,133 (GRCm39)	P687L	probably damaging	Het
Gpr162	A	G	6: 124,836,014 (GRCm39)	L462P	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Kcnh8	A	C	17: 53,285,168 (GRCm39)	E1046A	probably damaging	Het
Kcnk12	T	A	17: 88,053,538 (GRCm39)	T375S	probably benign	Het
Kdm4a	A	G	4: 118,004,193 (GRCm39)		probably null	Het
Klhl5	G	T	5: 65,300,673 (GRCm39)	V219L	possibly damaging	Het
Kpna1	A	T	16: 35,853,793 (GRCm39)	E474D	probably damaging	Het
Lama5	A	T	2: 179,840,502 (GRCm39)	Y632*	probably null	Het
Lias	A	G	5: 65,551,331 (GRCm39)	N88S	probably benign	Het
Mei1	C	T	15: 81,973,752 (GRCm39)	R80C		Het
Mical2	T	G	7: 111,981,399 (GRCm39)	S458A	probably benign	Het
Mrps33	A	G	6: 39,782,447 (GRCm39)	S25P	probably benign	Het
Mttp	T	A	3: 137,822,280 (GRCm39)	D169V	probably damaging	Het
Npdc1	A	G	2: 25,296,329 (GRCm39)	E72G	probably damaging	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Pcnx4	A	G	12: 72,603,587 (GRCm39)	T503A	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigu	C	T	2: 155,178,610 (GRCm39)	V83I	possibly damaging	Het
Ppcs	G	A	4: 119,279,397 (GRCm39)	R52*	probably null	Het
Rbm33	A	G	5: 28,544,239 (GRCm39)	E165G	probably benign	Het
Rnf5	A	T	17: 34,822,326 (GRCm39)	V41E	possibly damaging	Het
Ror2	T	C	13: 53,265,590 (GRCm39)	T501A	probably benign	Het
Rps17	T	G	7: 80,993,497 (GRCm39)	M105L	probably benign	Het
Ryr2	A	T	13: 11,610,772 (GRCm39)	M4018K	possibly damaging	Het
Scarf1	A	G	11: 75,416,720 (GRCm39)	M721V	probably benign	Het
Scgb1b30	A	G	7: 33,799,184 (GRCm39)	T39A	probably damaging	Het
Selenoo	T	C	15: 88,984,044 (GRCm39)	V620A	probably damaging	Het
Slfn8	A	C	11: 82,894,422 (GRCm39)	I739R	probably damaging	Het
Smc6	A	G	12: 11,359,291 (GRCm39)	T972A	probably benign	Het
Spred1	G	A	2: 117,002,644 (GRCm39)	R221H	unknown	Het
Stag1	T	A	9: 100,812,024 (GRCm39)	M834K	probably benign	Het
Taf1a	T	C	1: 183,181,878 (GRCm39)	I177T	possibly damaging	Het
Tcam1	G	A	11: 106,175,018 (GRCm39)	D158N	probably benign	Het
Tcirg1	G	T	19: 3,952,543 (GRCm39)	T275K	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tor1b	A	C	2: 30,844,015 (GRCm39)	I151L	probably benign	Het
Trappc12	T	A	12: 28,772,414 (GRCm39)	Q471L	possibly damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ugt2a2	G	A	5: 87,613,272 (GRCm39)	P288S	probably damaging	Het
Vmn1r157	T	C	7: 22,461,381 (GRCm39)	L87P	probably damaging	Het
Vmn1r188	A	G	13: 22,272,399 (GRCm39)	R118G	probably benign	Het
Vps13d	G	A	4: 144,879,344 (GRCm39)	T1493I		Het
Xrra1	T	G	7: 99,516,574 (GRCm39)	M6R	probably benign	Het
Zfp142	T	C	1: 74,610,288 (GRCm39)	E1169G	probably benign	Het
Zfp738	G	T	13: 67,819,017 (GRCm39)	R325S	possibly damaging	Het
Zmym4	A	G	4: 126,776,310 (GRCm39)	M1209T	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
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
X0065:Hspa12b	UTSW	2	130,986,481 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTAGGAGAAATGGTATGATGCCG -3'
(R):5'- TGCACACACTCAGAGGTCTC -3'

Sequencing Primer
(F):5'- ATGCCGAGGATTAGTGTCAG -3'
(R):5'- GTATATATAGGCCACCCCTGC -3'

Posted On

2022-02-07