Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02801:Dnajc6'

360215

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: 0.111) question?

Stock #

IGL02801

Quality Score

Status

Chromosome

Chromosomal Location

101496648-101642799 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101597813 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 37 (P37L)

Ref Sequence

ENSEMBL: ENSMUSP00000044251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038207] [ENSMUST00000094953] [ENSMUST00000106929] [ENSMUST00000106930] [ENSMUST00000106933] [ENSMUST00000149047] [ENSMUST00000154120]

Predicted Effect

probably benign
Transcript: ENSMUST00000038207
AA Change: P37L

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: P37L

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

SMART Domains

Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528

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

SMART Domains

Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528

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

SMART Domains

Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528

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: ENSMUST00000106933
AA Change: P67L

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: P67L

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

noncoding transcript
Transcript: ENSMUST00000146489

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154120

SMART Domains

Protein: ENSMUSP00000114840
Gene: ENSMUSG00000028528

Domain	Start	End	E-Value	Type
PDB:3N0A\|A	30	116	4e-54	PDB
SCOP:d1d5ra2	50	101	1e-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
Akap5	A	T	12: 76,328,995	K400N	probably benign	Het
Aox2	A	T	1: 58,354,177	I1193F	probably damaging	Het
Arhgef16	A	T	4: 154,291,507	L10Q	probably damaging	Het
Arl10	T	C	13: 54,575,883	V106A	probably benign	Het
Bmi1	T	C	2: 18,681,881	Y24H	probably damaging	Het
Cd163	T	A	6: 124,320,529	I878K	probably benign	Het
Col12a1	A	G	9: 79,608,414		probably null	Het
Csmd2	T	C	4: 128,552,075		probably null	Het
Dcp2	G	T	18: 44,417,711	M417I	probably damaging	Het
Ddx11	T	A	17: 66,148,033	C662S	probably benign	Het
Dhx29	G	A	13: 112,964,646	C1241Y	probably damaging	Het
Dqx1	A	G	6: 83,060,495		probably null	Het
Dzip1	T	A	14: 118,885,655	K643*	probably null	Het
Ecel1	A	G	1: 87,152,003	S463P	probably damaging	Het
Eml5	A	G	12: 98,817,845	V1361A	possibly damaging	Het
Fads2	C	A	19: 10,082,645	A222S	possibly damaging	Het
Fancd2	A	G	6: 113,593,317	N1410D	probably benign	Het
Fbxw16	A	G	9: 109,441,076	F199S	possibly damaging	Het
Frem2	A	G	3: 53,652,175	V1637A	possibly damaging	Het
Gabrg2	A	G	11: 41,912,393	S442P	probably damaging	Het
Gprin3	T	C	6: 59,354,981	T114A	possibly damaging	Het
Hoxd8	A	G	2: 74,706,568	E27G	probably damaging	Het
Isl2	A	G	9: 55,545,532		probably null	Het
Lamc2	T	A	1: 153,136,783	H715L	probably benign	Het
Lrif1	T	C	3: 106,734,614	V102A	possibly damaging	Het
Lrrc39	A	G	3: 116,578,346	N254S	possibly damaging	Het
Med13l	T	C	5: 118,745,113	W1346R	probably damaging	Het
Melk	T	C	4: 44,360,930	I570T	probably damaging	Het
Mlkl	G	A	8: 111,316,432	T361M	probably benign	Het
Myo1f	T	A	17: 33,578,137	M94K	probably damaging	Het
Naip1	A	G	13: 100,444,368	C124R	probably damaging	Het
Nek1	G	A	8: 61,121,061		probably null	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Pde1c	G	T	6: 56,173,666	N289K	probably damaging	Het
Pfas	G	A	11: 68,988,277		probably benign	Het
Pms2	A	T	5: 143,925,835	I587F	probably benign	Het
Ppargc1b	T	C	18: 61,307,684	E721G	possibly damaging	Het
Ppp2r1b	A	G	9: 50,878,827	I435V	probably benign	Het
Psip1	C	T	4: 83,458,120	S494N	probably benign	Het
Ranbp3	T	C	17: 56,710,766	V474A	probably benign	Het
Rnf220	C	T	4: 117,273,251	C259Y	probably damaging	Het
Sdr16c6	T	C	4: 4,076,603	I99V	probably benign	Het
Slc36a1	A	T	11: 55,226,053	I303F	probably benign	Het
Slc4a1	C	T	11: 102,359,146		probably null	Het
Syncrip	A	T	9: 88,479,809	D84E	probably damaging	Het
Tbc1d9b	T	C	11: 50,152,830	Y593H	probably damaging	Het
Tenm2	G	T	11: 36,047,030	Y1605*	probably null	Het
Tmem135	T	A	7: 89,154,125	H280L	probably benign	Het
Tmem229a	T	A	6: 24,955,122	Q211L	probably benign	Het
Txlna	T	C	4: 129,640,408	D5G	probably damaging	Het
Vmn2r57	T	C	7: 41,448,632	I4V	probably benign	Het
Wdfy3	A	G	5: 101,907,587	L1539S	probably damaging	Het
Zdhhc14	T	G	17: 5,726,819		probably null	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
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
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

2015-12-18