Mutagenetix > Incidental Mutations

Incidental Mutation 'R7072:Dnajc6'

548946

Institutional Source

Beutler Lab

Gene Symbol

Dnajc6

Ensembl Gene

ENSMUSG00000028528

Gene Name

DnaJ heat shock protein family (Hsp40) member C6

Synonyms

auxilin, 2810027M23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R7072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101496648-101642799 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 101615615 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 381 (H381P)

Ref Sequence

ENSEMBL: ENSMUSP00000102546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038207] [ENSMUST00000094953] [ENSMUST00000106929] [ENSMUST00000106930] [ENSMUST00000106933] [ENSMUST00000149047]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038207
AA Change: H351P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: H351P

Domain	Start	End	E-Value	Type
SCOP:d1d5ra2	88	244	1e-20	SMART
PTEN_C2	251	390	5.95e-42	SMART
low complexity region	502	521	N/A	INTRINSIC
low complexity region	554	569	N/A	INTRINSIC
low complexity region	679	694	N/A	INTRINSIC
low complexity region	719	735	N/A	INTRINSIC
low complexity region	829	840	N/A	INTRINSIC
DnaJ	873	934	2e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000094953
AA Change: H313P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: H313P

Domain	Start	End	E-Value	Type
SCOP:d1d5ra2	50	206	2e-20	SMART
PTEN_C2	213	352	5.95e-42	SMART
low complexity region	464	483	N/A	INTRINSIC
low complexity region	516	531	N/A	INTRINSIC
low complexity region	641	656	N/A	INTRINSIC
low complexity region	681	697	N/A	INTRINSIC
low complexity region	791	802	N/A	INTRINSIC
DnaJ	835	896	2e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106929
AA Change: H313P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: H313P

Domain	Start	End	E-Value	Type
SCOP:d1d5ra2	50	206	2e-20	SMART
PTEN_C2	213	352	5.95e-42	SMART
low complexity region	464	483	N/A	INTRINSIC
low complexity region	516	531	N/A	INTRINSIC
low complexity region	641	656	N/A	INTRINSIC
low complexity region	681	697	N/A	INTRINSIC
low complexity region	791	802	N/A	INTRINSIC
DnaJ	835	896	2e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106930
AA Change: H313P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: H313P

Domain	Start	End	E-Value	Type
SCOP:d1d5ra2	50	206	2e-20	SMART
PTEN_C2	213	352	5.95e-42	SMART
low complexity region	464	483	N/A	INTRINSIC
low complexity region	516	531	N/A	INTRINSIC
low complexity region	641	656	N/A	INTRINSIC
low complexity region	681	697	N/A	INTRINSIC
low complexity region	791	802	N/A	INTRINSIC
DnaJ	835	896	2e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106933
AA Change: H381P

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

SMART Domains

Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: H381P

Domain	Start	End	E-Value	Type
low complexity region	30	44	N/A	INTRINSIC
SCOP:d1d5ra2	118	274	1e-20	SMART
PTEN_C2	281	420	5.95e-42	SMART
low complexity region	532	551	N/A	INTRINSIC
low complexity region	584	599	N/A	INTRINSIC
low complexity region	709	724	N/A	INTRINSIC
low complexity region	749	765	N/A	INTRINSIC
low complexity region	859	870	N/A	INTRINSIC
DnaJ	903	964	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149047

SMART Domains

Protein: ENSMUSP00000119542
Gene: ENSMUSG00000028528

Domain	Start	End	E-Value	Type
PDB:3N0A\|A	30	194	1e-118	PDB
SCOP:d1d5ra2	50	187	2e-17	SMART

Coding Region Coverage

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

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous and heterozygous for a knock-out allele exhibit postnatal lethality and decreased body weight with homozygotes exhibiting decreased synpatic vesicle recycling. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,173,943	L2214Q	probably damaging	Het
Acbd3	T	C	1: 180,726,369	F90L	probably benign	Het
Ahnak2	T	A	12: 112,788,166	Q23L		Het
Anpep	A	T	7: 79,835,379	L620I	possibly damaging	Het
Bpi	T	C	2: 158,272,078	S299P	probably damaging	Het
Bpifa2	A	G	2: 154,011,373	D132G	probably damaging	Het
Brd7	T	A	8: 88,346,987	E258D	probably benign	Het
Btc	T	C	5: 91,402,937		probably benign	Het
Cacna1c	A	G	6: 118,596,106	V2039A		Het
Calm4	T	A	13: 3,838,275	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,760,359	V80A	unknown	Het
Ccdc33	A	G	9: 58,111,984	*279R	probably null	Het
Cercam	T	A	2: 29,881,924	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,440,857	D138G	probably benign	Het
Cox4i2	T	C	2: 152,760,653	F89S	probably damaging	Het
Crb1	G	A	1: 139,237,275	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,438,767		probably null	Het
Ctsj	C	A	13: 61,003,083	E187*	probably null	Het
D730001G18Rik	C	T	15: 74,772,270	V66M		Het
Dagla	A	T	19: 10,256,295		probably null	Het
Dnah7a	G	A	1: 53,419,753	T3742I	probably benign	Het
Dyrk3	A	T	1: 131,129,728	L236Q	probably damaging	Het
Edc4	T	A	8: 105,888,002	D105E	probably damaging	Het
Frmd5	A	T	2: 121,557,870	L241Q	probably damaging	Het
Gcc2	A	G	10: 58,270,927	T662A	probably benign	Het
Gins1	C	T	2: 150,909,751		probably null	Het
Gli3	T	A	13: 15,725,695	N1222K	possibly damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm4302	G	T	10: 100,341,659	Q268H	unknown	Het
Grin2d	A	T	7: 45,857,498	W518R	probably damaging	Het
Grm5	A	T	7: 88,074,304	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,546,365	N193K	probably benign	Het
Igdcc4	T	G	9: 65,130,731	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,341,412	F13I	probably benign	Het
Kctd11	T	A	11: 69,879,795	N139I	probably benign	Het
Lmo7	G	A	14: 101,898,700		probably null	Het
Lrrk2	A	T	15: 91,801,920	M2155L	probably benign	Het
Mettl24	A	C	10: 40,683,513	H53P	probably benign	Het
Mier2	A	G	10: 79,540,299	M264T	unknown	Het
Mplkip	T	C	13: 17,695,537	I18T	unknown	Het
Mtmr2	T	C	9: 13,788,620	V101A	probably benign	Het
Nbeal2	G	T	9: 110,626,051	T2593K	probably benign	Het
Neu3	A	T	7: 99,814,197	C106*	probably null	Het
Nutm1	T	C	2: 112,251,847	T295A	probably benign	Het
Olfr753-ps1	A	G	17: 37,170,378	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,717,276	V779L	probably benign	Het
Pde10a	A	G	17: 8,943,026	E231G	probably benign	Het
Plcg2	T	A	8: 117,589,835		probably null	Het
Pofut2	T	C	10: 77,259,429	L36P	probably benign	Het
Pou6f2	T	C	13: 18,125,169	N635S		Het
Pramef17	A	C	4: 143,994,128	I81R	probably damaging	Het
Ptpra	T	C	2: 130,553,430	Y818H	probably damaging	Het
Rad18	T	C	6: 112,681,440	E168G	probably benign	Het
Rev1	C	A	1: 38,067,545	E634*	probably null	Het
Sec24d	A	G	3: 123,330,351	D403G	probably damaging	Het
Sema5a	C	A	15: 32,574,959	H404Q	possibly damaging	Het
Shank1	A	G	7: 44,344,946	S844G	unknown	Het
Slc32a1	T	A	2: 158,611,496	Y85*	probably null	Het
Slc39a4	T	C	15: 76,613,258	T485A	probably damaging	Het
Sp5	A	C	2: 70,476,730	Q253P	probably benign	Het
Sspo	A	T	6: 48,454,979	D709V	probably damaging	Het
Sucnr1	A	G	3: 60,086,183	Y44C	probably damaging	Het
Taar8b	A	G	10: 24,091,978	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,264,865	D922G	probably damaging	Het
Tbx6	A	T	7: 126,784,740	D322V	probably benign	Het
Tex15	T	A	8: 33,575,431	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,541,501	P880S	probably benign	Het
Uck1	C	T	2: 32,258,166	R182Q	probably damaging	Het
Utrn	T	A	10: 12,465,213	H2840L	probably damaging	Het
Vps8	A	G	16: 21,581,579	T1266A	probably benign	Het
Wnk1	A	T	6: 119,937,861	I1909N	unknown	Het
Zfp352	C	T	4: 90,224,424	T267I	probably benign	Het
Zfp773	A	T	7: 7,132,875	C241S	probably benign	Het
Zfp934	T	C	13: 62,520,525	D8G	probably damaging	Het

Other mutations in Dnajc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Dnajc6	APN	4	101508089	intron	probably benign
IGL02336:Dnajc6	APN	4	101614286	unclassified	probably null
IGL02551:Dnajc6	APN	4	101639353	missense	probably damaging	1.00
IGL02801:Dnajc6	APN	4	101597813	missense	probably benign	0.33
IGL02887:Dnajc6	APN	4	101639300	missense	probably damaging	1.00
IGL03107:Dnajc6	APN	4	101616860	missense	probably damaging	1.00
IGL03271:Dnajc6	APN	4	101508077	intron	probably benign
R0091:Dnajc6	UTSW	4	101616777	splice site	probably benign
R0384:Dnajc6	UTSW	4	101598956	missense	probably damaging	1.00
R0546:Dnajc6	UTSW	4	101635191	missense	probably damaging	0.99
R0689:Dnajc6	UTSW	4	101611253	missense	possibly damaging	0.91
R1239:Dnajc6	UTSW	4	101635116	missense	probably damaging	0.98
R1421:Dnajc6	UTSW	4	101611316	missense	probably damaging	0.97
R1424:Dnajc6	UTSW	4	101639347	missense	possibly damaging	0.92
R1563:Dnajc6	UTSW	4	101599137	missense	probably damaging	1.00
R1608:Dnajc6	UTSW	4	101599167	missense	probably damaging	1.00
R1757:Dnajc6	UTSW	4	101597831	missense	probably damaging	1.00
R1856:Dnajc6	UTSW	4	101598988	missense	probably damaging	1.00
R2032:Dnajc6	UTSW	4	101614238	missense	probably benign	0.39
R2518:Dnajc6	UTSW	4	101612930	missense	probably damaging	0.99
R4028:Dnajc6	UTSW	4	101616857	missense	probably damaging	1.00
R4088:Dnajc6	UTSW	4	101639396	missense	probably damaging	1.00
R4601:Dnajc6	UTSW	4	101611264	missense	probably damaging	1.00
R4602:Dnajc6	UTSW	4	101611264	missense	probably damaging	1.00
R4610:Dnajc6	UTSW	4	101611264	missense	probably damaging	1.00
R4755:Dnajc6	UTSW	4	101550799	missense	probably damaging	1.00
R4878:Dnajc6	UTSW	4	101599034	intron	probably benign
R4938:Dnajc6	UTSW	4	101636813	missense	probably damaging	1.00
R5373:Dnajc6	UTSW	4	101615627	missense	probably damaging	0.99
R5391:Dnajc6	UTSW	4	101628158	critical splice donor site	probably null
R5435:Dnajc6	UTSW	4	101606610	missense	probably damaging	0.99
R5760:Dnajc6	UTSW	4	101618642	missense	probably benign	0.39
R6044:Dnajc6	UTSW	4	101616577	missense	probably benign	0.22
R6086:Dnajc6	UTSW	4	101597807	missense	probably benign	0.45
R6460:Dnajc6	UTSW	4	101615598	missense	probably damaging	1.00
R6495:Dnajc6	UTSW	4	101635065	nonsense	probably null
R6956:Dnajc6	UTSW	4	101614273	missense	probably damaging	0.97
R7155:Dnajc6	UTSW	4	101612945	missense	probably damaging	1.00
R7192:Dnajc6	UTSW	4	101597803	missense	probably benign	0.02
R7226:Dnajc6	UTSW	4	101639372	missense	probably damaging	1.00
R7298:Dnajc6	UTSW	4	101606611	missense	probably benign	0.09
R7612:Dnajc6	UTSW	4	101597926	missense	probably benign	0.40
R7622:Dnajc6	UTSW	4	101640491	missense	probably damaging	1.00
R7652:Dnajc6	UTSW	4	101606677	missense	probably damaging	0.98
R7789:Dnajc6	UTSW	4	101618532	missense	possibly damaging	0.82
Z1088:Dnajc6	UTSW	4	101639329	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTTGCTTTCATGGAGAGAAGC -3'
(R):5'- TCAATGGAAAGACTTCAAACCTGC -3'

Sequencing Primer
(F):5'- CTAGAAATGAACCTGGGAGGCC -3'
(R):5'- CATAGCCTCTCTAAGTGATGGAGC -3'

Posted On

2019-05-15