Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Hspa12a'

541399

Institutional Source

Beutler Lab

Gene Symbol

Hspa12a

Ensembl Gene

ENSMUSG00000025092

Gene Name

heat shock protein 12A

Synonyms

Hspa12a, 1700063D12Rik, Gm19925

MMRRC Submission

045066-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.392) question?

Stock #

R6954 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58784182-58932086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58788124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 566 (D566G)

Ref Sequence

ENSEMBL: ENSMUSP00000066860 (fasta)

Gene Model

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

AlphaFold

Q8K0U4

Predicted Effect

probably benign
Transcript: ENSMUST00000066285
AA Change: D566G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: D566G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	T	7: 126,429,809 (GRCm39)		probably null	Het
Alox5	A	C	6: 116,397,241 (GRCm39)	Y314*	probably null	Het
Ap4e1	T	C	2: 126,906,871 (GRCm39)	S1044P	probably benign	Het
Ash2l	A	G	8: 26,312,796 (GRCm39)	V391A	possibly damaging	Het
B4galnt4	A	G	7: 140,647,145 (GRCm39)	T326A	probably benign	Het
Ccm2	T	A	11: 6,544,239 (GRCm39)	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,896,373 (GRCm39)	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,483,696 (GRCm39)	L849S	probably damaging	Het
Ctrb1	A	G	8: 112,413,296 (GRCm39)	S239P	probably damaging	Het
Dennd1b	T	A	1: 139,096,683 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 117,957,258 (GRCm39)	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,272,817 (GRCm39)	F267L	probably damaging	Het
Fcrl2	A	G	3: 87,170,983 (GRCm39)		probably benign	Het
Furin	G	T	7: 80,046,712 (GRCm39)	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,128,317 (GRCm39)	C670S	probably damaging	Het
Gm6309	A	T	5: 146,105,300 (GRCm39)	D204E	possibly damaging	Het
Hsf2	T	A	10: 57,380,739 (GRCm39)	I191N	probably damaging	Het
Igf1	G	C	10: 87,700,722 (GRCm39)	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663 (GRCm39)	C44Y	probably damaging	Het
Letm1	G	A	5: 33,939,851 (GRCm39)	R16C	probably benign	Het
Lypd8l	T	A	11: 58,499,314 (GRCm39)	Y168F	probably benign	Het
Marf1	A	G	16: 13,956,384 (GRCm39)	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,767,948 (GRCm39)	S428T	probably benign	Het
Myo1d	T	C	11: 80,565,783 (GRCm39)	I347M	probably benign	Het
Myo9b	A	G	8: 71,743,463 (GRCm39)	I175V	probably damaging	Het
Naip5	A	T	13: 100,359,922 (GRCm39)	V438E	probably damaging	Het
Nup205	T	A	6: 35,185,044 (GRCm39)	V768E	possibly damaging	Het
Or4k6	A	T	14: 50,475,567 (GRCm39)	Y258*	probably null	Het
Or9g4b	T	A	2: 85,616,726 (GRCm39)	Y290*	probably null	Het
Pcdh15	C	T	10: 74,481,821 (GRCm39)	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,334,055 (GRCm39)	Q376L	possibly damaging	Het
Pign	T	C	1: 105,481,622 (GRCm39)	I791M	probably benign	Het
Pik3c2b	T	G	1: 132,994,041 (GRCm39)	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 94,975,558 (GRCm39)	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,702,054 (GRCm39)	L1294*	probably null	Het
Pprc1	T	C	19: 46,052,872 (GRCm39)	S797P	probably damaging	Het
Prob1	A	G	18: 35,787,321 (GRCm39)	V311A	probably benign	Het
Prune2	C	A	19: 16,977,385 (GRCm39)	T40K	probably damaging	Het
Rif1	T	G	2: 52,002,703 (GRCm39)	D2052E	probably benign	Het
Sall1	A	G	8: 89,759,519 (GRCm39)	V195A	probably damaging	Het
Scfd1	T	C	12: 51,474,729 (GRCm39)		probably null	Het
Sidt2	A	T	9: 45,864,148 (GRCm39)	N123K	probably benign	Het
Slc22a6	G	A	19: 8,599,460 (GRCm39)	A320T	probably benign	Het
Slc25a10	A	G	11: 120,388,973 (GRCm39)	H279R	probably benign	Het
Slc35b4	A	G	6: 34,135,556 (GRCm39)	V252A	probably benign	Het
Slc46a3	T	C	5: 147,823,150 (GRCm39)	T231A	probably benign	Het
Stxbp1	T	A	2: 32,691,905 (GRCm39)	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,517,782 (GRCm39)	T87I	probably benign	Het
Tcstv6	A	G	13: 120,307,666 (GRCm39)	D20G	possibly damaging	Het
Tdpoz2	A	T	3: 93,559,582 (GRCm39)	L130H	probably damaging	Het
Tmem69	T	C	4: 116,411,921 (GRCm39)		probably null	Het
Tmppe	G	A	9: 114,234,591 (GRCm39)	V297I	probably benign	Het
Ung	G	T	5: 114,269,398 (GRCm39)	A37S	probably benign	Het
Vdac1	T	C	11: 52,277,200 (GRCm39)	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,898,328 (GRCm39)	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,933,437 (GRCm39)	I27T	probably benign	Het
Zfp280b	T	A	10: 75,875,522 (GRCm39)	M467K	probably benign	Het
Zkscan4	A	G	13: 21,668,535 (GRCm39)	I329V	probably damaging	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
R4031:Hspa12a	UTSW	19	58,789,289 (GRCm39)	missense	probably benign	0.17
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
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'- ATGATGGTCTGGATCTCTCTGC -3'
(R):5'- GCGACAAATGCAGGATCATC -3'

Sequencing Primer
(F):5'- TCCCCGTGAGATCCAAGC -3'
(R):5'- CTGCCGTTATCAAGGTG -3'

Posted On

2018-11-28