Mutagenetix > Incidental Mutations

Incidental Mutation 'R6460:Dnajc6'

517553

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: 0.136) question?

Stock #

R6460 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101496648-101642799 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101615598 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 307 (I307M)

Ref Sequence

ENSEMBL: ENSMUSP00000102543 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038207
AA Change: I345M

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

SMART Domains

Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: I345M

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: I307M

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

SMART Domains

Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: I307M

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: I307M

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

SMART Domains

Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: I307M

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: I307M

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

SMART Domains

Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: I307M

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: I375M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: I375M

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 80,009,028	H1528L	probably benign	Het
Ablim1	A	G	19: 57,079,839	S263P	possibly damaging	Het
Ahnak2	T	C	12: 112,786,990	E104G	probably null	Het
Apof	T	A	10: 128,269,217	M80K	probably damaging	Het
Arfgef1	C	T	1: 10,213,060	R208H	probably damaging	Het
Arhgef33	A	G	17: 80,349,589		probably null	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,494,248		probably benign	Het
Cabcoco1	T	C	10: 68,516,381	K34E	probably damaging	Het
Col4a4	C	A	1: 82,466,532	G1338V	unknown	Het
Coq9	T	A	8: 94,853,186	D256E	probably damaging	Het
Dnajc18	A	T	18: 35,700,910	C41S	probably benign	Het
Emg1	A	G	6: 124,711,907	V46A	probably damaging	Het
Eya3	A	G	4: 132,680,863	S157G	probably damaging	Het
Eya4	T	C	10: 23,152,012	N274S	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat3	A	G	9: 15,967,000	V3395A	probably damaging	Het
Fchsd1	A	T	18: 37,959,844		probably null	Het
Gm4846	A	G	1: 166,497,513	V3A	probably benign	Het
Hecw2	T	A	1: 53,868,833		probably null	Het
Herc3	T	A	6: 58,890,123	I10N	probably damaging	Het
Hhatl	C	T	9: 121,789,522	R138H	probably benign	Het
Hspa9	A	T	18: 34,952,712	H35Q	probably benign	Het
Irgq	T	A	7: 24,533,690	S319T	probably benign	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Ksr2	T	A	5: 117,756,384		probably null	Het
Lrriq1	T	C	10: 103,200,698	I865V	probably damaging	Het
Map2k1	A	G	9: 64,187,295	L355P	probably damaging	Het
Muc16	A	G	9: 18,640,516	I4827T	probably benign	Het
Myh1	T	C	11: 67,221,376	V1752A	probably benign	Het
Nfatc2ip	A	G	7: 126,387,737	V282A	probably damaging	Het
Nrg1	T	A	8: 31,818,533	E485V	probably damaging	Het
Ofcc1	T	C	13: 40,287,979	D2G	probably damaging	Het
Olfr958	CAGAG	CAG	9: 39,550,792		probably null	Het
Pclo	T	C	5: 14,679,132		probably benign	Het
Pom121	T	C	5: 135,391,683	K295E	unknown	Het
Rb1	A	C	14: 73,278,454	I294R	probably benign	Het
Schip1	C	A	3: 68,494,894	S101R	probably benign	Het
Sec24c	T	A	14: 20,690,800	Y629N	probably damaging	Het
Shkbp1	T	A	7: 27,350,538	H305L	probably benign	Het
Spag9	T	C	11: 94,068,975	I187T	probably damaging	Het
Srp72	C	A	5: 76,987,991	T256K	probably damaging	Het
Stk32c	T	A	7: 139,105,274	N320I	probably damaging	Het
Stxbp4	A	T	11: 90,606,985	S163T	probably benign	Het
Sycp1	T	G	3: 102,925,253	Y199S	probably damaging	Het
Tpk1	T	C	6: 43,469,027	D159G	probably benign	Het
Trav21-dv12	C	T	14: 53,876,734	H104Y	probably benign	Het
Trip4	A	T	9: 65,881,020	Y48N	probably damaging	Het
Trmt10b	A	G	4: 45,314,322	T255A	possibly damaging	Het
Ttn	G	A	2: 76,916,888	Q4606*	probably null	Het
Vcan	T	A	13: 89,690,687	K2246M	possibly damaging	Het
Zfp438	C	A	18: 5,213,603	G452C	probably damaging	Het
Zfp54	T	A	17: 21,433,742	I166N	probably benign	Het
Zfp735	T	C	11: 73,711,652	V474A	probably benign	Het
Zfp831	G	T	2: 174,646,567	G1012W	possibly 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
R6495:Dnajc6	UTSW	4	101635065	nonsense	probably null
R6956:Dnajc6	UTSW	4	101614273	missense	probably damaging	0.97
R7072:Dnajc6	UTSW	4	101615615	missense	probably damaging	1.00
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'- CCAAGCAGACTATGGAGGTG -3'
(R):5'- AGCCACAGTCAATAGCCTGC -3'

Sequencing Primer
(F):5'- CACTGATGAGTAAGGAAATGTCTTGC -3'
(R):5'- CAGCTCAGGACTCTGGAGAC -3'

Posted On

2018-05-21