Mutagenetix > Incidental Mutation

Incidental Mutation 'R8721:Hspa12b'

662107

Institutional Source

Beutler Lab

Gene Symbol

Hspa12b

Ensembl Gene

ENSMUSG00000074793

Gene Name

heat shock protein 12B

Synonyms

2700081N06Rik

MMRRC Submission

068717-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8721 (G1)

Quality Score

217.009

Status

Not validated

Chromosome

Chromosomal Location

130969332-130987905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130982922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 260 (D260G)

Ref Sequence

ENSEMBL: ENSMUSP00000096950 (fasta)

Gene Model

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

AlphaFold

Q9CZJ2

Predicted Effect

probably benign
Transcript: ENSMUST00000099349
AA Change: D260G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000096950
Gene: ENSMUSG00000074793
AA Change: D260G

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: ENSMUST00000127862

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.1%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,035,115 (GRCm39)	D684G	possibly damaging	Het
Abhd16a	T	C	17: 35,310,571 (GRCm39)	V94A	possibly damaging	Het
Acly	A	T	11: 100,412,806 (GRCm39)		probably null	Het
Adamts1	G	T	16: 85,594,775 (GRCm39)	T621K	probably damaging	Het
Arhgap24	A	T	5: 103,023,565 (GRCm39)	T200S	possibly damaging	Het
Arhgap31	A	G	16: 38,427,058 (GRCm39)	V598A	probably benign	Het
Ascc1	T	C	10: 59,933,928 (GRCm39)	F323S	possibly damaging	Het
Cdcp3	T	C	7: 130,879,335 (GRCm39)	S1785P	unknown	Het
Ces2b	T	A	8: 105,560,527 (GRCm39)	V114D	possibly damaging	Het
Cfap73	T	C	5: 120,768,089 (GRCm39)	E223G	probably benign	Het
Csnk1e	T	C	15: 79,314,015 (GRCm39)	N78S	possibly damaging	Het
Cyp7a1	G	T	4: 6,268,273 (GRCm39)	A484E	probably damaging	Het
Dnah9	G	T	11: 65,986,124 (GRCm39)	T1170K	probably damaging	Het
Fam83d	G	T	2: 158,627,522 (GRCm39)	V404L	probably benign	Het
Fbxw28	C	T	9: 109,157,382 (GRCm39)	V289I	probably benign	Het
Frs2	T	G	10: 116,909,935 (GRCm39)	I476L	probably benign	Het
Gbp2b	A	T	3: 142,312,705 (GRCm39)	I363F	possibly damaging	Het
Gm8267	A	T	14: 44,959,507 (GRCm39)	F186I	possibly damaging	Het
Hand1	A	G	11: 57,722,605 (GRCm39)	L3P	probably damaging	Het
Hmcn2	C	T	2: 31,315,189 (GRCm39)	L3671F	probably damaging	Het
Itih2	T	C	2: 10,111,619 (GRCm39)	K440E	probably damaging	Het
Morn4	A	T	19: 42,066,439 (GRCm39)	N49K	possibly damaging	Het
Mtmr6	T	G	14: 60,527,128 (GRCm39)		probably null	Het
Mylk	A	T	16: 34,817,176 (GRCm39)	D1848V	probably damaging	Het
Myo7b	A	G	18: 32,140,064 (GRCm39)	V242A	probably damaging	Het
Or4a74	T	C	2: 89,440,186 (GRCm39)	K87E	probably benign	Het
Or8g19	T	G	9: 39,055,386 (GRCm39)		probably benign	Het
Rmdn3	T	A	2: 118,969,846 (GRCm39)	Q405L	possibly damaging	Het
Robo2	A	G	16: 73,703,798 (GRCm39)	S30P		Het
Suclg1	G	T	6: 73,246,362 (GRCm39)	L218F	probably damaging	Het
Tas2r134	T	C	2: 51,517,571 (GRCm39)	S17P	probably damaging	Het
Tdrd9	T	C	12: 112,002,889 (GRCm39)	L846P	probably damaging	Het
Tgfbi	A	G	13: 56,773,599 (GRCm39)	N199S	probably benign	Het
Traj35	C	T	14: 54,421,272 (GRCm39)	T14I		Het
Tril	A	G	6: 53,797,183 (GRCm39)	V13A	probably benign	Het
Tshz2	T	A	2: 169,727,278 (GRCm39)	S625T	probably benign	Het
Ttll12	A	G	15: 83,464,784 (GRCm39)	F464L	probably damaging	Het
Wdr35	T	C	12: 9,075,044 (GRCm39)		probably null	Het
Zfp346	A	G	13: 55,261,491 (GRCm39)	S94G	possibly damaging	Het
Zfp429	T	A	13: 67,538,331 (GRCm39)	Y371F	probably damaging	Het
Zscan4-ps2	A	T	7: 11,251,522 (GRCm39)	E186V	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
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
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'- TGGCAGGCTTAGCATAGATG -3'
(R):5'- TCAGGACGATGACTCCCTCTTC -3'

Sequencing Primer
(F):5'- CAGGCTTAGCATAGATGGTGTG -3'
(R):5'- TCTTCATCCTACATAGAACCTCCAG -3'

Posted On

2021-03-08