Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03107:Dnajc6'

419019

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc6

Ensembl Gene

ENSMUSG00000028528

Gene Name

DnaJ heat shock protein family (Hsp40) member C6

Synonyms

auxilin, 2810027M23Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL03107

Quality Score

Status

Chromosome

Chromosomal Location

101496648-101642799 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101616860 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 486 (W486L)

Ref Sequence

ENSEMBL: ENSMUSP00000102546 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000038207
AA Change: W456L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: W456L

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 benign
Transcript: ENSMUST00000094953
AA Change: W418L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: W418L

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 benign
Transcript: ENSMUST00000106929
AA Change: W418L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: W418L

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 benign
Transcript: ENSMUST00000106930
AA Change: W418L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: W418L

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: W486L

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

SMART Domains

Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: W486L

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

Coding Region Coverage

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931440F15Rik	T	A	11: 29,824,360	I366F	probably damaging	Het
A930003A15Rik	T	C	16: 19,883,768		noncoding transcript	Het
Angpt4	A	G	2: 151,943,422	M453V	probably benign	Het
Atr	T	A	9: 95,897,730	D1380E	probably benign	Het
Carmil1	A	T	13: 24,094,455	M177K	probably damaging	Het
Cenpk	T	A	13: 104,242,772	I203N	probably damaging	Het
Cerk	A	T	15: 86,142,813	N165K	probably benign	Het
Col27a1	G	A	4: 63,324,632		probably benign	Het
Crb2	A	T	2: 37,791,416	D757V	probably benign	Het
Csnk1a1	A	G	18: 61,568,305	D91G	probably damaging	Het
Elmod1	C	T	9: 53,934,223		probably benign	Het
Ercc3	G	T	18: 32,248,307	R392L	possibly damaging	Het
Fam135b	C	T	15: 71,463,561	V595I	probably benign	Het
Fermt1	A	T	2: 132,933,139	S256T	probably damaging	Het
Fstl5	G	T	3: 76,536,311	C321F	probably damaging	Het
Gpatch1	T	G	7: 35,303,317	N256T	probably benign	Het
Gpd2	T	A	2: 57,355,569	S425R	probably damaging	Het
Igkv4-57-1	T	G	6: 69,544,590	M43L	probably benign	Het
Itgae	A	G	11: 73,113,601	Q238R	probably damaging	Het
Lats1	T	A	10: 7,712,746	D1042E	probably benign	Het
Lcn8	G	A	2: 25,655,365	G156D	probably damaging	Het
Loxl4	A	C	19: 42,605,279	V224G	probably benign	Het
Lrp2	T	A	2: 69,454,833	D3827V	probably damaging	Het
Neb	C	A	2: 52,183,825	R231S	probably benign	Het
Olfr123	G	A	17: 37,795,788	V115I	probably benign	Het
Olfr1458	A	T	19: 13,103,037	M89K	probably benign	Het
Olfr213	T	G	6: 116,540,939	M162R	possibly damaging	Het
Olfr801	A	G	10: 129,669,940	M193T	probably benign	Het
Olfr969	T	G	9: 39,796,179	M268R	probably benign	Het
Pappa	T	G	4: 65,204,703	S758R	probably damaging	Het
Pced1a	G	A	2: 130,422,835	T61I	possibly damaging	Het
Pik3cg	T	C	12: 32,200,595	D731G	probably damaging	Het
Plxnb1	G	A	9: 109,104,986	D761N	probably benign	Het
Pmp22	T	C	11: 63,158,309	V126A	probably benign	Het
Ppp6r2	G	T	15: 89,268,545	R296S	probably damaging	Het
Prkcq	A	C	2: 11,260,786	H438P	probably damaging	Het
Ryr1	T	A	7: 29,075,199	Y2339F	probably damaging	Het
Scaper	T	C	9: 55,858,402		probably benign	Het
Scp2	T	A	4: 108,098,115	I144F	probably benign	Het
Secisbp2	T	C	13: 51,652,757		probably null	Het
Sema5a	T	A	15: 32,669,408	Y693N	probably damaging	Het
Sin3b	T	A	8: 72,753,585	I905K	probably damaging	Het
Slc13a3	T	A	2: 165,437,307	M195L	probably benign	Het
Strada	A	G	11: 106,164,037		probably benign	Het
Stx18	G	A	5: 38,136,311	V294M	probably damaging	Het
Tbpl2	A	T	2: 24,093,833	N197K	probably benign	Het
Tdrd9	A	T	12: 112,042,840	H1060L	probably damaging	Het
Tm4sf5	G	A	11: 70,505,397	V23M	possibly damaging	Het
Tmem54	C	A	4: 129,110,912	L187I	probably damaging	Het
Tmprss5	A	G	9: 49,113,228	H281R	possibly damaging	Het
Trim30c	A	G	7: 104,382,613	Y332H	possibly damaging	Het
Uba6	T	A	5: 86,127,774		probably benign	Het
Unc80	C	A	1: 66,631,454	P1912Q	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
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
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

Posted On

2016-08-02