Mutagenetix > Incidental Mutation

Incidental Mutation 'R0040:Hspa12a'

216047

Institutional Source

Beutler Lab

Gene Symbol

Hspa12a

Ensembl Gene

ENSMUSG00000025092

Gene Name

heat shock protein 12A

Synonyms

Hspa12a, 1700063D12Rik, Gm19925

MMRRC Submission

038334-MU

Accession Numbers

Essential gene?

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

Stock #

R0040 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58784182-58932086 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58788056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 589 (T589A)

Ref Sequence

ENSEMBL: ENSMUSP00000066860 (fasta)

Gene Model

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

AlphaFold

Q8K0U4

Predicted Effect

probably benign
Transcript: ENSMUST00000066285
AA Change: T589A

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: T589A

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

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 93.6%

Validation Efficiency

100% (88/88)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Antxr2	G	A	5: 98,086,284 (GRCm39)	T441I	possibly damaging	Het
Apcs	A	G	1: 172,722,023 (GRCm39)	Y108H	probably benign	Het
Atad5	A	G	11: 79,988,840 (GRCm39)	T666A	probably benign	Het
Atcay	C	T	10: 81,046,353 (GRCm39)		probably null	Het
Bahcc1	A	G	11: 120,159,196 (GRCm39)	D141G	probably damaging	Het
Ceacam10	A	G	7: 24,477,689 (GRCm39)	Y68C	probably damaging	Het
Cfap54	T	A	10: 92,812,901 (GRCm39)	Q1344L	probably benign	Het
Cyb5r4	A	G	9: 86,948,795 (GRCm39)		probably null	Het
Cyp2b9	G	T	7: 25,872,899 (GRCm39)	S14I	possibly damaging	Het
Dusp12	A	G	1: 170,708,226 (GRCm39)	Y164H	probably damaging	Het
Eml2	T	C	7: 18,930,539 (GRCm39)	V373A	possibly damaging	Het
Fat1	A	G	8: 45,479,441 (GRCm39)	D2829G	probably damaging	Het
Fbxl13	T	C	5: 21,691,371 (GRCm39)	T671A	probably damaging	Het
Fbxo28	G	T	1: 182,153,805 (GRCm39)		probably benign	Het
Fbxo44	A	G	4: 148,243,152 (GRCm39)	L89P	probably damaging	Het
Fndc3b	T	A	3: 27,610,266 (GRCm39)		probably null	Het
Gm9955	G	T	18: 24,842,209 (GRCm39)		probably benign	Het
Gprc6a	T	A	10: 51,491,080 (GRCm39)	K819*	probably null	Het
Gxylt1	A	T	15: 93,152,436 (GRCm39)		probably benign	Het
Idh2	A	G	7: 79,747,570 (GRCm39)	S317P	probably damaging	Het
Ifi30	T	C	8: 71,216,421 (GRCm39)		probably null	Het
Ifna16	G	A	4: 88,594,867 (GRCm39)	A76V	probably benign	Het
Itpr2	C	T	6: 146,246,638 (GRCm39)	E1127K	probably damaging	Het
Kank4	A	G	4: 98,667,457 (GRCm39)	V330A	probably benign	Het
Kpna1	T	A	16: 35,843,611 (GRCm39)	D328E	probably damaging	Het
Krt71	T	A	15: 101,646,868 (GRCm39)	H280L	possibly damaging	Het
Lrrc37	G	A	11: 103,433,816 (GRCm39)	P942S	probably damaging	Het
Mapt	A	G	11: 104,196,224 (GRCm39)	M446V	probably damaging	Het
Med1	C	T	11: 98,057,081 (GRCm39)		probably null	Het
Mif	T	A	10: 75,695,614 (GRCm39)	H63L	probably damaging	Het
Mycbp2	A	G	14: 103,461,708 (GRCm39)	V1447A	probably benign	Het
Myo1b	A	T	1: 51,821,148 (GRCm39)	I451N	probably damaging	Het
Nme2	A	T	11: 93,842,756 (GRCm39)		probably null	Het
Nubp1	A	G	16: 10,238,981 (GRCm39)	T199A	probably damaging	Het
Nup210l	T	A	3: 90,089,212 (GRCm39)	V1165D	probably damaging	Het
Nup98	T	A	7: 101,841,241 (GRCm39)	T122S	probably damaging	Het
Or14a258	A	T	7: 86,035,715 (GRCm39)	L51Q	probably benign	Het
Or1n2	T	C	2: 36,797,470 (GRCm39)	F171L	probably damaging	Het
Or5j1	C	T	2: 86,879,548 (GRCm39)	E11K	probably damaging	Het
Or6c202	T	A	10: 128,996,608 (GRCm39)	I82L	probably benign	Het
Pard3b	A	T	1: 62,676,979 (GRCm39)	Y1170F	probably damaging	Het
Pear1	T	C	3: 87,661,665 (GRCm39)	D536G	probably damaging	Het
Phrf1	G	T	7: 140,823,770 (GRCm39)	R196L	probably damaging	Het
Plxna2	G	T	1: 194,326,204 (GRCm39)	R46L	probably benign	Het
Rbm39	G	A	2: 155,990,099 (GRCm39)	T496I	possibly damaging	Het
Rpl14	C	G	9: 120,401,167 (GRCm39)	F3L	possibly damaging	Het
Rtf2	G	A	2: 172,286,616 (GRCm39)	S40N	probably damaging	Het
Runx2	G	A	17: 44,919,141 (GRCm39)	S481L	possibly damaging	Het
Sh3rf1	T	A	8: 61,782,286 (GRCm39)	Y143N	possibly damaging	Het
Siglec15	G	A	18: 78,092,092 (GRCm39)		probably benign	Het
Slc4a8	T	A	15: 100,687,727 (GRCm39)	I288N	probably damaging	Het
Ttc38	C	A	15: 85,725,690 (GRCm39)	F184L	probably damaging	Het
Vmn1r28	T	C	6: 58,242,879 (GRCm39)	Y241H	probably damaging	Het
Vmn2r110	A	T	17: 20,816,346 (GRCm39)	V59D	probably benign	Het
Wdpcp	A	G	11: 21,661,638 (GRCm39)	I303M	probably damaging	Het
Zc3h12d	G	A	10: 7,743,678 (GRCm39)	A483T	probably benign	Het
Zfp106	C	A	2: 120,362,094 (GRCm39)	K1008N	probably damaging	Het
Zfp334	A	G	2: 165,223,492 (GRCm39)	Y184H	probably benign	Het
Zfp68	G	A	5: 138,606,041 (GRCm39)	T94I	probably benign	Het
Zkscan3	A	T	13: 21,579,090 (GRCm39)		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
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
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'- GAAGTCGATCCCCACTTTGACACTC -3'
(R):5'- AATGCAGGATCATCATCCCGCAG -3'

Sequencing Primer
(F):5'- CCGAACTGCATGATGGTCTG -3'
(R):5'- TGGACCCTGCCGTTATCAAG -3'

Posted On

2014-07-17