Mutagenetix > Incidental Mutation

Incidental Mutation 'R7038:Hspa12a'

546905

Institutional Source

Beutler Lab

Gene Symbol

Hspa12a

Ensembl Gene

ENSMUSG00000025092

Gene Name

heat shock protein 12A

Synonyms

1700063D12Rik, Hspa12a

MMRRC Submission

045138-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.548) question?

Stock #

R7038 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58795751-58860984 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58804700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 351 (V351A)

Ref Sequence

ENSEMBL: ENSMUSP00000066860 (fasta)

Gene Model

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

AlphaFold

Q8K0U4

Predicted Effect

probably damaging
Transcript: ENSMUST00000066285
AA Change: V351A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066860
Gene: ENSMUSG00000025092
AA Change: V351A

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

Meta Mutation Damage Score

0.1128

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (101/102)

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,110,311	F85L	probably benign	Het
2010111I01Rik	G	T	13: 63,190,525	V571F	possibly damaging	Het
Abl2	T	C	1: 156,641,409	S748P	possibly damaging	Het
Alppl2	T	C	1: 87,089,111	D104G	probably damaging	Het
Als2	C	A	1: 59,167,514	W1590L	possibly damaging	Het
Aplf	C	T	6: 87,653,823	W210*	probably null	Het
Ash1l	A	T	3: 88,982,671	H619L	probably benign	Het
Baiap3	G	A	17: 25,243,840	R1075C	probably benign	Het
Bpifb1	G	T	2: 154,202,669	V19F	probably damaging	Het
Capn1	A	T	19: 6,014,319	L50Q	probably benign	Het
Carmil1	A	G	13: 24,139,335	S245P	probably damaging	Het
Cavin4	A	G	4: 48,672,479	H308R	probably benign	Het
Cd4	C	T	6: 124,870,254	V316M	probably damaging	Het
Cdcp1	T	C	9: 123,173,597	Y803C	probably damaging	Het
Cep295nl	A	G	11: 118,332,989	I343T	probably benign	Het
Cgn	T	G	3: 94,763,085	T1021P	possibly damaging	Het
Col6a5	A	G	9: 105,945,738	V140A	unknown	Het
Cops8	T	C	1: 90,603,598		probably benign	Het
Crhbp	A	G	13: 95,444,191	Y54H	probably damaging	Het
Cyp2c29	G	A	19: 39,287,127	V4I	probably benign	Het
Cyp2j6	T	A	4: 96,535,471	Y220F	probably benign	Het
D130043K22Rik	A	G	13: 24,893,408	D1008G	probably damaging	Het
Ddx47	T	A	6: 135,023,373	V444E	possibly damaging	Het
Dnttip2	T	A	3: 122,276,532	C465*	probably null	Het
Dst	C	A	1: 34,182,798	S2561*	probably null	Het
Dstyk	T	C	1: 132,454,109	S534P	probably benign	Het
Eif4e	A	G	3: 138,527,182		probably benign	Het
Eipr1	C	T	12: 28,751,818		probably benign	Het
Fastkd2	T	A	1: 63,731,873	D129E	possibly damaging	Het
Fndc3b	C	T	3: 27,501,469	G312D	probably benign	Het
Gab2	T	A	7: 97,303,083	I562N	probably damaging	Het
Gata5	C	A	2: 180,333,892	D160Y	possibly damaging	Het
Gcn1l1	G	A	5: 115,611,144	V1912I	probably damaging	Het
Gdf5	C	A	2: 155,944,735	Q107H	probably damaging	Het
Gdpd1	A	G	11: 87,035,292	Y276H	probably damaging	Het
Gins1	A	G	2: 150,917,871	Y81C	probably damaging	Het
Gm28360	T	C	1: 117,853,599	C107R	probably damaging	Het
Hadha	T	C	5: 30,120,000		probably null	Het
Hcn4	A	T	9: 58,823,584	I25F	unknown	Het
Hectd4	A	G	5: 121,299,597	Y1095C	possibly damaging	Het
Hsp90b1	A	T	10: 86,695,866	L73Q	probably damaging	Het
Htr1b	T	A	9: 81,632,243	M104L	probably benign	Het
Ick	C	T	9: 78,109,202		probably benign	Het
Igf2r	T	C	17: 12,698,325	T1563A	probably benign	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Liph	A	T	16: 21,976,259	V201E	probably damaging	Het
Ltn1	T	C	16: 87,424,871	D196G	probably damaging	Het
Med15	C	T	16: 17,652,727	D589N	possibly damaging	Het
Mknk1	A	G	4: 115,857,110	D26G	probably damaging	Het
Mpi	T	C	9: 57,545,217	D344G	probably damaging	Het
Mrc2	A	G	11: 105,332,236	E435G	possibly damaging	Het
Mrps5	A	G	2: 127,600,866	E285G	probably damaging	Het
Muc16	T	A	9: 18,620,468	M6197L	probably damaging	Het
Myo3b	A	T	2: 70,095,208	E34D	probably benign	Het
Nsd3	T	C	8: 25,641,263	S215P	probably damaging	Het
Nsmce2	T	A	15: 59,496,830		probably benign	Het
Ntan1	T	C	16: 13,826,910	S37P	probably benign	Het
Nup210l	T	A	3: 90,159,947	Y765N	probably damaging	Het
Olfr1193	A	T	2: 88,678,741	R288S	probably damaging	Het
Olfr1495	A	T	19: 13,768,351	D3V	probably benign	Het
Olfr223	T	C	11: 59,589,582	Y169C	possibly damaging	Het
Olfr849	A	C	9: 19,441,592	L226F	possibly damaging	Het
Pald1	T	C	10: 61,339,299	H724R	probably benign	Het
Pcdhb7	A	T	18: 37,342,204	D131V	possibly damaging	Het
Pds5b	G	T	5: 150,800,760	R1269S	probably benign	Het
Pikfyve	T	C	1: 65,234,361	V645A	probably damaging	Het
Plag1	G	T	4: 3,904,676	H172N	probably damaging	Het
Plch2	G	C	4: 154,990,032		probably null	Het
Plxnb1	T	A	9: 109,100,385	V103E	probably damaging	Het
Prpf8	T	A	11: 75,496,158	M1143K	probably benign	Het
Ptpn18	T	A	1: 34,459,825	M1K	probably null	Het
Rasgrf2	G	A	13: 91,982,833	T703I	possibly damaging	Het
Rassf6	A	T	5: 90,609,725	H125Q	probably benign	Het
Sdad1	A	G	5: 92,298,190		probably null	Het
Sf3a3	T	A	4: 124,728,426	F426L	probably benign	Het
Sgsm3	T	C	15: 81,008,375	F6L	possibly damaging	Het
Slc14a2	A	T	18: 78,159,037	I626N	probably damaging	Het
Slc17a8	T	C	10: 89,600,221	N165S	probably benign	Het
Slc41a1	C	A	1: 131,842,057	A305D	possibly damaging	Het
Smyd4	C	A	11: 75,390,514	P271Q	probably damaging	Het
Spag17	C	A	3: 99,984,609	H260N	probably benign	Het
Spata2	A	T	2: 167,485,363	V38E	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Syt14	T	A	1: 192,983,658		probably benign	Het
Tbx21	A	G	11: 97,099,771	S329P	probably damaging	Het
Tex2	A	T	11: 106,511,900		probably null	Het
Tmem62	A	G	2: 120,993,577	I244M	possibly damaging	Het
Tnks	A	T	8: 34,851,636	N830K	probably damaging	Het
Tox2	A	G	2: 163,314,344	E145G	probably damaging	Het
Tpcn1	T	C	5: 120,585,277	D7G	probably damaging	Het
Ttc28	T	A	5: 111,266,579	M1320K	probably benign	Het
Tubgcp5	T	G	7: 55,805,366	V270G	probably damaging	Het
Unc5a	A	G	13: 55,004,484	R62G	probably damaging	Het
Unc5d	A	G	8: 28,715,721		probably null	Het
Utrn	T	C	10: 12,682,338	H1459R	probably damaging	Het
Vmn2r100	T	A	17: 19,505,001	L64Q	possibly damaging	Het
Wdr55	T	G	18: 36,760,420	L45R	probably damaging	Het
Zfp292	A	G	4: 34,816,357	Y306H	probably damaging	Het
Zfp398	G	T	6: 47,866,309	D300Y	probably damaging	Het
Zfp407	A	G	18: 84,561,857	V377A	probably damaging	Het
Zfp457	G	A	13: 67,293,933	H97Y	probably benign	Het
Zfp467	T	C	6: 48,438,138	T527A	probably damaging	Het

Other mutations in Hspa12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Hspa12a	APN	19	58828249	splice site	probably null
IGL01516:Hspa12a	APN	19	58827676	missense	probably benign	0.00
IGL01766:Hspa12a	APN	19	58799467	missense	probably damaging	0.99
IGL01986:Hspa12a	APN	19	58799402	missense	probably benign	0.30
IGL02138:Hspa12a	APN	19	58828298	missense	probably benign	0.45
IGL02170:Hspa12a	APN	19	58804681	missense	probably benign	0.01
IGL02576:Hspa12a	APN	19	58799410	missense	possibly damaging	0.56
IGL02623:Hspa12a	APN	19	58809551	missense	probably benign	0.01
IGL02890:Hspa12a	APN	19	58820999	critical splice donor site	probably null
IGL03209:Hspa12a	APN	19	58822061	splice site	probably null
IGL03343:Hspa12a	APN	19	58799396	missense	probably benign	0.00
R0040:Hspa12a	UTSW	19	58799624	missense	probably benign	0.10
R0090:Hspa12a	UTSW	19	58799509	missense	probably benign	0.00
R2139:Hspa12a	UTSW	19	58799482	missense	probably benign
R4031:Hspa12a	UTSW	19	58800857	missense	probably benign	0.17
R4686:Hspa12a	UTSW	19	58799749	missense	possibly damaging	0.90
R4914:Hspa12a	UTSW	19	58799452	missense	probably damaging	1.00
R5046:Hspa12a	UTSW	19	58799545	missense	probably damaging	1.00
R5580:Hspa12a	UTSW	19	58799660	missense	probably benign	0.11
R5615:Hspa12a	UTSW	19	58804650	missense	possibly damaging	0.56
R5781:Hspa12a	UTSW	19	58822086	missense	probably damaging	0.99
R6777:Hspa12a	UTSW	19	58822087	missense	probably benign	0.03
R6954:Hspa12a	UTSW	19	58799692	missense	probably benign	0.05
R7151:Hspa12a	UTSW	19	58822162	missense	probably benign	0.07
R7249:Hspa12a	UTSW	19	58805433	missense	probably benign	0.27
R7677:Hspa12a	UTSW	19	58860885	missense	probably benign	0.01
R8110:Hspa12a	UTSW	19	58821013	missense	possibly damaging	0.86
R8830:Hspa12a	UTSW	19	58805463	missense	possibly damaging	0.74
R8955:Hspa12a	UTSW	19	58799626	missense	probably damaging	1.00
R8987:Hspa12a	UTSW	19	58799471	nonsense	probably null
R9056:Hspa12a	UTSW	19	58825288	missense	probably damaging	1.00
R9147:Hspa12a	UTSW	19	58805458	missense	probably damaging	1.00
R9148:Hspa12a	UTSW	19	58805458	missense	probably damaging	1.00
R9157:Hspa12a	UTSW	19	58800860	missense	possibly damaging	0.86
R9316:Hspa12a	UTSW	19	58804647	missense	probably benign	0.22
R9329:Hspa12a	UTSW	19	58800866	missense	probably benign	0.01
R9370:Hspa12a	UTSW	19	58825276	missense	probably damaging	1.00
R9486:Hspa12a	UTSW	19	58809459	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCCCCGGAACTTCTTGTAGTAG -3'
(R):5'- TCTGCAGAATAAGATCCCAAGGG -3'

Sequencing Primer
(F):5'- CCCGGAACTTCTTGTAGTAGTCAATG -3'
(R):5'- TGCAGAATAAGATCCCAAGGGTTTTG -3'

Posted On

2019-05-13