Mutagenetix > Incidental Mutation

Incidental Mutation 'R8110:Hspa12a'

630844

Institutional Source

Beutler Lab

Gene Symbol

Hspa12a

Ensembl Gene

ENSMUSG00000025092

Gene Name

heat shock protein 12A

Synonyms

1700063D12Rik, Hspa12a

MMRRC Submission

067539-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

R8110 (G1)

Quality Score

210.009

Status

Validated

Chromosome

Chromosomal Location

58795751-58860984 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58821013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 217 (E217V)

Ref Sequence

ENSEMBL: ENSMUSP00000066860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066285]

AlphaFold

Q8K0U4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066285
AA Change: E217V

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: E217V

Domain	Start	End	E-Value	Type
SCOP:d1bupa1	58	244	4e-14	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.1%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	T	11: 23,576,764 (GRCm38)	T696N	probably benign	Het
Ankrd45	T	C	1: 161,151,319 (GRCm38)		probably null	Het
Appl1	C	A	14: 26,927,794 (GRCm38)	G592*	probably null	Het
Arfgef2	T	A	2: 166,878,544 (GRCm38)	M1501K	probably benign	Het
Calcrl	C	T	2: 84,339,339 (GRCm38)	A333T	probably damaging	Het
Cd200r3	T	A	16: 44,951,472 (GRCm38)	I33N	probably benign	Het
Ceacam15	A	G	7: 16,673,409 (GRCm38)	L61P	probably benign	Het
Cfap69	T	A	5: 5,582,515 (GRCm38)	H827L	possibly damaging	Het
Csmd3	T	A	15: 47,644,270 (GRCm38)	E2780V	probably damaging	Het
Cyp2u1	G	A	3: 131,293,654 (GRCm38)	T426I	probably damaging	Het
Eefsec	A	C	6: 88,376,330 (GRCm38)	I119S	probably damaging	Het
Fem1b	T	C	9: 62,796,268 (GRCm38)	N570S	probably damaging	Het
Fmo9	A	G	1: 166,663,526 (GRCm38)	M461T	probably benign	Het
Fryl	A	G	5: 73,133,277 (GRCm38)	Y95H	probably benign	Het
Fsip2	T	C	2: 82,958,673 (GRCm38)	I346T	probably benign	Het
Fto	T	C	8: 91,485,190 (GRCm38)	F381S	probably damaging	Het
Gabbr1	G	C	17: 37,048,583 (GRCm38)	S150T	probably benign	Het
Galnt9	G	T	5: 110,615,473 (GRCm38)	W448L	probably damaging	Het
Gcnt2	G	T	13: 40,917,722 (GRCm38)		probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016 (GRCm38)		probably null	Het
Gm17727	T	C	9: 35,778,033 (GRCm38)	*84W	probably null	Het
Gm8882	C	T	6: 132,361,568 (GRCm38)	G229D	unknown	Het
Gmcl1	G	T	6: 86,721,426 (GRCm38)	A163E	probably damaging	Het
Hectd4	A	G	5: 121,332,949 (GRCm38)	Y2633C	possibly damaging	Het
Hsd11b2	A	G	8: 105,522,634 (GRCm38)	I214V	probably damaging	Het
Itih2	A	G	2: 10,097,137 (GRCm38)	F845L	probably damaging	Het
Kcnn3	T	A	3: 89,661,233 (GRCm38)	L606H	probably damaging	Het
Krt6b	G	A	15: 101,680,142 (GRCm38)	R28C	probably damaging	Het
Lama2	T	A	10: 26,990,870 (GRCm38)	D2876V	probably damaging	Het
Lmbrd2	T	C	15: 9,175,192 (GRCm38)	S397P	probably damaging	Het
Lmf2	C	T	15: 89,352,358 (GRCm38)		probably null	Het
Lrp2	A	G	2: 69,506,453 (GRCm38)	I1325T	probably benign	Het
Ltbp2	A	T	12: 84,803,902 (GRCm38)	C879*	probably null	Het
Map3k1	A	G	13: 111,755,313 (GRCm38)	V1136A	probably damaging	Het
Mettl3	G	T	14: 52,300,252 (GRCm38)	H84N	probably benign	Het
Mia2	A	G	12: 59,109,087 (GRCm38)		probably null	Het
Mlip	G	T	9: 77,239,579 (GRCm38)	T92K	probably damaging	Het
Nalcn	T	A	14: 123,464,701 (GRCm38)	Y466F	probably benign	Het
Nav2	T	A	7: 49,551,950 (GRCm38)	L235*	probably null	Het
Nbn	T	C	4: 15,981,588 (GRCm38)	V560A	probably benign	Het
Ncln	A	T	10: 81,493,153 (GRCm38)	Y144N	possibly damaging	Het
Nfe2l2	A	C	2: 75,679,421 (GRCm38)	D18E	probably benign	Het
Olfr102	A	G	17: 37,313,713 (GRCm38)	F224L	probably benign	Het
Olfr1131	T	C	2: 87,628,607 (GRCm38)	I48T	possibly damaging	Het
Olfr356	T	C	2: 36,937,709 (GRCm38)	C197R	possibly damaging	Het
Olfr432	G	A	1: 174,050,525 (GRCm38)	A51T	probably benign	Het
Otop3	A	T	11: 115,339,395 (GRCm38)	M33L	probably benign	Het
Pdzd2	G	A	15: 12,373,506 (GRCm38)	S2181L	probably benign	Het
Phf14	T	C	6: 11,953,423 (GRCm38)	I387T	possibly damaging	Het
Prdm9	T	A	17: 15,554,698 (GRCm38)	N318Y	probably damaging	Het
Proca1	A	G	11: 78,204,911 (GRCm38)	D123G	probably damaging	Het
Prune2	G	A	19: 17,120,719 (GRCm38)	G1196S	probably benign	Het
Psd3	T	A	8: 68,121,056 (GRCm38)	S158C	probably damaging	Het
Rps18	A	G	17: 33,955,136 (GRCm38)	V15A	probably benign	Het
Sharpin	C	A	15: 76,347,765 (GRCm38)	R271L	possibly damaging	Het
Smad5	C	A	13: 56,723,888 (GRCm38)	Q99K	probably damaging	Het
Sox5	T	C	6: 144,116,474 (GRCm38)	M151V	possibly damaging	Het
Sphkap	A	T	1: 83,278,771 (GRCm38)	F419Y	possibly damaging	Het
Tbx20	T	A	9: 24,725,525 (GRCm38)	Y422F	probably damaging	Het
Tcirg1	A	C	19: 3,899,099 (GRCm38)	F397V	probably damaging	Het
Tex36	G	A	7: 133,595,283 (GRCm38)	S35F	possibly damaging	Het
Tsen54	G	T	11: 115,814,934 (GRCm38)	A26S	unknown	Het
Usp50	T	A	2: 126,780,330 (GRCm38)		probably null	Het
Vmn2r5	A	T	3: 64,491,288 (GRCm38)	F757I	probably benign	Het
Zbbx	T	C	3: 75,155,442 (GRCm38)	T3A	possibly damaging	Het
Zfp28	T	A	7: 6,389,829 (GRCm38)	M168K	probably benign	Het
Zfp568	G	T	7: 30,023,126 (GRCm38)	G499W	probably damaging	Het
Zfp7	C	G	15: 76,890,931 (GRCm38)	P391R	possibly damaging	Het

Other mutations in Hspa12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Hspa12a	APN	19	58,828,249 (GRCm38)	splice site	probably null
IGL01516:Hspa12a	APN	19	58,827,676 (GRCm38)	missense	probably benign	0.00
IGL01766:Hspa12a	APN	19	58,799,467 (GRCm38)	missense	probably damaging	0.99
IGL01986:Hspa12a	APN	19	58,799,402 (GRCm38)	missense	probably benign	0.30
IGL02138:Hspa12a	APN	19	58,828,298 (GRCm38)	missense	probably benign	0.45
IGL02170:Hspa12a	APN	19	58,804,681 (GRCm38)	missense	probably benign	0.01
IGL02576:Hspa12a	APN	19	58,799,410 (GRCm38)	missense	possibly damaging	0.56
IGL02623:Hspa12a	APN	19	58,809,551 (GRCm38)	missense	probably benign	0.01
IGL02890:Hspa12a	APN	19	58,820,999 (GRCm38)	critical splice donor site	probably null
IGL03209:Hspa12a	APN	19	58,822,061 (GRCm38)	splice site	probably null
IGL03343:Hspa12a	APN	19	58,799,396 (GRCm38)	missense	probably benign	0.00
R0040:Hspa12a	UTSW	19	58,799,624 (GRCm38)	missense	probably benign	0.10
R0090:Hspa12a	UTSW	19	58,799,509 (GRCm38)	missense	probably benign	0.00
R2139:Hspa12a	UTSW	19	58,799,482 (GRCm38)	missense	probably benign
R4031:Hspa12a	UTSW	19	58,800,857 (GRCm38)	missense	probably benign	0.17
R4686:Hspa12a	UTSW	19	58,799,749 (GRCm38)	missense	possibly damaging	0.90
R4914:Hspa12a	UTSW	19	58,799,452 (GRCm38)	missense	probably damaging	1.00
R5046:Hspa12a	UTSW	19	58,799,545 (GRCm38)	missense	probably damaging	1.00
R5580:Hspa12a	UTSW	19	58,799,660 (GRCm38)	missense	probably benign	0.11
R5615:Hspa12a	UTSW	19	58,804,650 (GRCm38)	missense	possibly damaging	0.56
R5781:Hspa12a	UTSW	19	58,822,086 (GRCm38)	missense	probably damaging	0.99
R6777:Hspa12a	UTSW	19	58,822,087 (GRCm38)	missense	probably benign	0.03
R6954:Hspa12a	UTSW	19	58,799,692 (GRCm38)	missense	probably benign	0.05
R7038:Hspa12a	UTSW	19	58,804,700 (GRCm38)	missense	probably damaging	1.00
R7151:Hspa12a	UTSW	19	58,822,162 (GRCm38)	missense	probably benign	0.07
R7249:Hspa12a	UTSW	19	58,805,433 (GRCm38)	missense	probably benign	0.27
R7677:Hspa12a	UTSW	19	58,860,885 (GRCm38)	missense	probably benign	0.01
R8830:Hspa12a	UTSW	19	58,805,463 (GRCm38)	missense	possibly damaging	0.74
R8955:Hspa12a	UTSW	19	58,799,626 (GRCm38)	missense	probably damaging	1.00
R8987:Hspa12a	UTSW	19	58,799,471 (GRCm38)	nonsense	probably null
R9056:Hspa12a	UTSW	19	58,825,288 (GRCm38)	missense	probably damaging	1.00
R9147:Hspa12a	UTSW	19	58,805,458 (GRCm38)	missense	probably damaging	1.00
R9148:Hspa12a	UTSW	19	58,805,458 (GRCm38)	missense	probably damaging	1.00
R9157:Hspa12a	UTSW	19	58,800,860 (GRCm38)	missense	possibly damaging	0.86
R9316:Hspa12a	UTSW	19	58,804,647 (GRCm38)	missense	probably benign	0.22
R9329:Hspa12a	UTSW	19	58,800,866 (GRCm38)	missense	probably benign	0.01
R9370:Hspa12a	UTSW	19	58,825,276 (GRCm38)	missense	probably damaging	1.00
R9486:Hspa12a	UTSW	19	58,809,459 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTGAGGCACAAGAAGACCCTTTAC -3'
(R):5'- CTCCTCTGGAGTTCCTGGTAAAGG -3'

Sequencing Primer
(F):5'- AGAAGACCCTTTACCCATGTCTC -3'
(R):5'- CTGGTAAAGGACTGACTGCTC -3'

Posted On

2020-06-30