Mutagenetix > Incidental Mutation

Incidental Mutation 'R4031:Hspa12a'

313517

Institutional Source

Beutler Lab

Gene Symbol

Hspa12a

Ensembl Gene

ENSMUSG00000025092

Gene Name

heat shock protein 12A

Synonyms

Hspa12a, 1700063D12Rik, Gm19925

MMRRC Submission

040960-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.412) question?

Stock #

R4031 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

58784182-58932086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58789289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 449 (N449S)

Ref Sequence

ENSEMBL: ENSMUSP00000066860 (fasta)

Gene Model

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

AlphaFold

Q8K0U4

Predicted Effect

probably benign
Transcript: ENSMUST00000066285
AA Change: N449S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: N449S

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

Meta Mutation Damage Score

0.1398

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

95% (52/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	G	T	8: 87,244,077 (GRCm39)	F1025L	probably damaging	Het
Acss2	C	T	2: 155,399,130 (GRCm39)	T477I	probably damaging	Het
Aplp2	G	A	9: 31,069,026 (GRCm39)	P601L	probably benign	Het
Arl2bp	T	C	8: 95,394,281 (GRCm39)	I32T	probably damaging	Het
Avpi1	C	A	19: 42,113,180 (GRCm39)		probably benign	Het
C030005K15Rik	T	C	10: 97,561,404 (GRCm39)	Y109C	unknown	Het
Ccdc150	T	A	1: 54,317,970 (GRCm39)	M303K	probably benign	Het
Chrna5	T	C	9: 54,905,370 (GRCm39)	W61R	probably damaging	Het
Copa	T	C	1: 171,935,942 (GRCm39)	V428A	probably damaging	Het
Crybb3	A	G	5: 113,227,735 (GRCm39)	Y29H	probably damaging	Het
Dcun1d4	A	G	5: 73,691,980 (GRCm39)	D89G	probably damaging	Het
Disp2	T	C	2: 118,622,361 (GRCm39)	I1031T	probably benign	Het
Elf1	A	C	14: 79,806,723 (GRCm39)	K161Q	probably damaging	Het
Fndc1	A	T	17: 7,988,584 (GRCm39)	Y1159*	probably null	Het
Hyal4	A	G	6: 24,756,223 (GRCm39)	E147G	probably damaging	Het
Hydin	T	C	8: 111,336,679 (GRCm39)	I5152T	probably benign	Het
Ighv9-1	C	T	12: 114,057,844 (GRCm39)	A19T	probably benign	Het
Kcnt1	T	G	2: 25,806,060 (GRCm39)	S1216R	possibly damaging	Het
Kdm5d	T	A	Y: 916,910 (GRCm39)	V435E	probably damaging	Het
Klhl30	G	A	1: 91,288,879 (GRCm39)	R546H	probably benign	Het
Lrp1b	C	T	2: 40,592,860 (GRCm39)	G3753D	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Macf1	A	G	4: 123,275,105 (GRCm39)	L6303P	probably damaging	Het
Mblac2	T	C	13: 81,898,208 (GRCm39)	S195P	possibly damaging	Het
Mindy3	A	C	2: 12,405,894 (GRCm39)		probably null	Het
Neurod1	C	T	2: 79,284,370 (GRCm39)	D338N	probably benign	Het
Polr1e	A	T	4: 45,018,685 (GRCm39)	E5V	probably benign	Het
Polr2b	G	A	5: 77,496,252 (GRCm39)	R1141H	possibly damaging	Het
Ppp2r2a	T	C	14: 67,266,425 (GRCm39)	S79G	probably damaging	Het
Psmd2	G	A	16: 20,481,955 (GRCm39)	G896D	probably damaging	Het
Rap1gds1	T	C	3: 138,756,353 (GRCm39)		probably benign	Het
Rsph10b	A	G	5: 143,922,486 (GRCm39)		probably null	Het
Slc26a10	A	G	10: 127,013,871 (GRCm39)	V297A	possibly damaging	Het
Slc26a5	T	C	5: 22,052,189 (GRCm39)	K47E	probably damaging	Het
Slurp1	T	C	15: 74,599,336 (GRCm39)	E58G	probably damaging	Het
Spo11	T	A	2: 172,828,625 (GRCm39)		probably benign	Het
Tm9sf4	T	C	2: 153,040,264 (GRCm39)		probably benign	Het
Trak1	T	C	9: 121,280,736 (GRCm39)	I272T	probably damaging	Het
Tshz1	T	C	18: 84,032,954 (GRCm39)	K485E	possibly damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Unc79	T	A	12: 103,039,018 (GRCm39)	S671T	possibly damaging	Het
Usp43	G	T	11: 67,804,659 (GRCm39)	A186D	probably damaging	Het
Vmn2r107	G	A	17: 20,595,483 (GRCm39)	V679I	probably benign	Het
Vsig10l	C	T	7: 43,114,798 (GRCm39)	A333V	probably damaging	Het
Vwa3a	G	A	7: 120,367,455 (GRCm39)		probably null	Het
Wdr49	C	A	3: 75,230,972 (GRCm39)	L563F	probably benign	Het
Wnk1	T	C	6: 119,928,029 (GRCm39)	T1141A	probably damaging	Het
Zfp236	T	A	18: 82,642,590 (GRCm39)	E1052V	probably damaging	Het
Zfp317	A	T	9: 19,558,008 (GRCm39)	H163L	possibly damaging	Het
Zfp975	G	A	7: 42,312,377 (GRCm39)	Q79*	probably null	Het

Other mutations in Hspa12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Hspa12a	APN	19	58,816,681 (GRCm39)	splice site	probably null
IGL01516:Hspa12a	APN	19	58,816,108 (GRCm39)	missense	probably benign	0.00
IGL01766:Hspa12a	APN	19	58,787,899 (GRCm39)	missense	probably damaging	0.99
IGL01986:Hspa12a	APN	19	58,787,834 (GRCm39)	missense	probably benign	0.30
IGL02138:Hspa12a	APN	19	58,816,730 (GRCm39)	missense	probably benign	0.45
IGL02170:Hspa12a	APN	19	58,793,113 (GRCm39)	missense	probably benign	0.01
IGL02576:Hspa12a	APN	19	58,787,842 (GRCm39)	missense	possibly damaging	0.56
IGL02623:Hspa12a	APN	19	58,797,983 (GRCm39)	missense	probably benign	0.01
IGL02890:Hspa12a	APN	19	58,809,431 (GRCm39)	critical splice donor site	probably null
IGL03209:Hspa12a	APN	19	58,810,493 (GRCm39)	splice site	probably null
IGL03343:Hspa12a	APN	19	58,787,828 (GRCm39)	missense	probably benign	0.00
R0040:Hspa12a	UTSW	19	58,788,056 (GRCm39)	missense	probably benign	0.10
R0090:Hspa12a	UTSW	19	58,787,941 (GRCm39)	missense	probably benign	0.00
R2139:Hspa12a	UTSW	19	58,787,914 (GRCm39)	missense	probably benign
R4686:Hspa12a	UTSW	19	58,788,181 (GRCm39)	missense	possibly damaging	0.90
R4914:Hspa12a	UTSW	19	58,787,884 (GRCm39)	missense	probably damaging	1.00
R5046:Hspa12a	UTSW	19	58,787,977 (GRCm39)	missense	probably damaging	1.00
R5580:Hspa12a	UTSW	19	58,788,092 (GRCm39)	missense	probably benign	0.11
R5615:Hspa12a	UTSW	19	58,793,082 (GRCm39)	missense	possibly damaging	0.56
R5781:Hspa12a	UTSW	19	58,810,518 (GRCm39)	missense	probably damaging	0.99
R6777:Hspa12a	UTSW	19	58,810,519 (GRCm39)	missense	probably benign	0.03
R6954:Hspa12a	UTSW	19	58,788,124 (GRCm39)	missense	probably benign	0.05
R7038:Hspa12a	UTSW	19	58,793,132 (GRCm39)	missense	probably damaging	1.00
R7151:Hspa12a	UTSW	19	58,810,594 (GRCm39)	missense	probably benign	0.07
R7249:Hspa12a	UTSW	19	58,793,865 (GRCm39)	missense	probably benign	0.27
R7677:Hspa12a	UTSW	19	58,849,317 (GRCm39)	missense	probably benign	0.01
R8110:Hspa12a	UTSW	19	58,809,445 (GRCm39)	missense	possibly damaging	0.86
R8830:Hspa12a	UTSW	19	58,793,895 (GRCm39)	missense	possibly damaging	0.74
R8955:Hspa12a	UTSW	19	58,788,058 (GRCm39)	missense	probably damaging	1.00
R8987:Hspa12a	UTSW	19	58,787,903 (GRCm39)	nonsense	probably null
R9056:Hspa12a	UTSW	19	58,813,720 (GRCm39)	missense	probably damaging	1.00
R9147:Hspa12a	UTSW	19	58,793,890 (GRCm39)	missense	probably damaging	1.00
R9148:Hspa12a	UTSW	19	58,793,890 (GRCm39)	missense	probably damaging	1.00
R9157:Hspa12a	UTSW	19	58,789,292 (GRCm39)	missense	possibly damaging	0.86
R9316:Hspa12a	UTSW	19	58,793,079 (GRCm39)	missense	probably benign	0.22
R9329:Hspa12a	UTSW	19	58,789,298 (GRCm39)	missense	probably benign	0.01
R9370:Hspa12a	UTSW	19	58,813,708 (GRCm39)	missense	probably damaging	1.00
R9486:Hspa12a	UTSW	19	58,797,891 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TATTCAGAGCCATGTCCAGC -3'
(R):5'- GAACGCTTTTGACTTTAAAACCCC -3'

Sequencing Primer
(F):5'- CCATGTCCAGCAAGCCTG -3'
(R):5'- CCCTTTAACCCCACAGTGG -3'

Posted On

2015-04-30