Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02887:Dnajc6'

363820

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

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02887

Quality Score

Status

Chromosome

Chromosomal Location

101353828-101499996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101496497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 820 (I820T)

Ref Sequence

ENSEMBL: ENSMUSP00000102543 (fasta)

Gene Model

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

AlphaFold

Q80TZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038207
AA Change: I858T

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

SMART Domains

Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: I858T

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: I820T

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

SMART Domains

Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: I820T

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: I820T

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

SMART Domains

Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: I820T

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: I820T

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

SMART Domains

Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: I820T

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: I888T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: I888T

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,166,168 (GRCm39)	Y69H	probably damaging	Het
Afap1l2	A	T	19: 56,908,995 (GRCm39)	S310R	probably damaging	Het
Aldh7a1	A	G	18: 56,675,288 (GRCm39)		probably benign	Het
Anxa8	T	A	14: 33,818,481 (GRCm39)		probably null	Het
Ap1ar	T	C	3: 127,602,192 (GRCm39)	E282G	probably damaging	Het
Arl6ip6	T	G	2: 53,092,939 (GRCm39)	S155A	probably benign	Het
Armc9	T	C	1: 86,092,557 (GRCm39)	F107S	probably damaging	Het
Ash1l	C	A	3: 88,891,488 (GRCm39)	D1122E	probably benign	Het
Atp2b4	T	A	1: 133,656,512 (GRCm39)	I713F	probably damaging	Het
BC005624	A	C	2: 30,863,317 (GRCm39)		probably benign	Het
Calcrl	T	C	2: 84,169,586 (GRCm39)	D365G	probably benign	Het
Ccdc110	A	G	8: 46,396,221 (GRCm39)	N704S	probably benign	Het
Ccr10	G	T	11: 101,065,492 (GRCm39)	L13I	probably benign	Het
Cfap52	A	G	11: 67,844,341 (GRCm39)	Y125H	probably damaging	Het
Cnr2	C	A	4: 135,644,936 (GRCm39)	T338K	possibly damaging	Het
Cntn2	T	A	1: 132,444,308 (GRCm39)	D935V	probably damaging	Het
Cog7	T	C	7: 121,543,067 (GRCm39)	K448R	possibly damaging	Het
Csnk1g2	G	A	10: 80,474,369 (GRCm39)	D197N	probably damaging	Het
Cyp2e1	T	A	7: 140,343,824 (GRCm39)	S21T	probably damaging	Het
Dcaf11	T	C	14: 55,801,592 (GRCm39)	F187L	probably damaging	Het
Dmd	T	A	X: 82,922,110 (GRCm39)	F1460Y	probably benign	Het
Dnah11	G	A	12: 117,874,775 (GRCm39)	A4030V	probably damaging	Het
Dnah7a	A	G	1: 53,561,519 (GRCm39)	V2046A	possibly damaging	Het
Dsel	T	C	1: 111,788,462 (GRCm39)	D691G	possibly damaging	Het
Fbp1	T	A	13: 63,016,894 (GRCm39)	M203L	probably benign	Het
Fndc1	T	C	17: 7,992,470 (GRCm39)	T409A	unknown	Het
Golgb1	T	G	16: 36,746,211 (GRCm39)	L2930R	probably damaging	Het
Htr2a	A	G	14: 74,882,583 (GRCm39)	T190A	probably benign	Het
Klra4	C	T	6: 130,021,033 (GRCm39)	C254Y	probably damaging	Het
Large1	A	T	8: 73,858,667 (GRCm39)	V67E	probably benign	Het
Lins1	T	C	7: 66,363,931 (GRCm39)	S609P	probably damaging	Het
Magi3	T	C	3: 104,002,473 (GRCm39)	E156G	probably damaging	Het
Mdh1b	A	G	1: 63,754,523 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,037 (GRCm39)	D276G	probably benign	Het
Myh9	T	A	15: 77,680,220 (GRCm39)	K185*	probably null	Het
Myof	T	C	19: 37,909,227 (GRCm39)		probably null	Het
Naip2	T	G	13: 100,298,020 (GRCm39)	Y672S	possibly damaging	Het
Nbeal1	A	G	1: 60,326,603 (GRCm39)		probably benign	Het
Nbeal2	T	A	9: 110,457,344 (GRCm39)	H2273L	probably damaging	Het
Neb	T	C	2: 52,090,733 (GRCm39)	K1346E	possibly damaging	Het
Nfatc2	T	C	2: 168,346,370 (GRCm39)	D908G	probably damaging	Het
Nlgn2	T	C	11: 69,718,080 (GRCm39)	N375S	probably benign	Het
Nova1	G	T	12: 46,767,505 (GRCm39)	Q139K	unknown	Het
Opa3	A	T	7: 18,962,507 (GRCm39)	Q47L	probably damaging	Het
Or10g7	T	A	9: 39,905,109 (GRCm39)	M1K	probably null	Het
Or2t47	A	G	11: 58,442,987 (GRCm39)	L26P	probably damaging	Het
Or6c205	T	A	10: 129,086,794 (GRCm39)	Y130*	probably null	Het
Pacs1	A	T	19: 5,185,138 (GRCm39)		probably benign	Het
Pappa2	T	A	1: 158,609,829 (GRCm39)	H1544L	probably damaging	Het
Pax8	A	G	2: 24,334,627 (GRCm39)	S48P	probably damaging	Het
Pdilt	T	C	7: 119,097,272 (GRCm39)	N70S	possibly damaging	Het
Poldip3	T	C	15: 83,013,469 (GRCm39)		probably benign	Het
Ppp6r1	T	A	7: 4,645,211 (GRCm39)	I80F	probably damaging	Het
Pycr2	T	A	1: 180,732,304 (GRCm39)		probably null	Het
Rapgef2	C	T	3: 78,976,187 (GRCm39)		probably benign	Het
Rbm44	T	A	1: 91,080,902 (GRCm39)	D363E	probably damaging	Het
Rnf213	A	T	11: 119,318,336 (GRCm39)	I1046F	probably damaging	Het
Ryr2	A	G	13: 11,606,155 (GRCm39)	S4476P	probably damaging	Het
Scara5	G	A	14: 66,000,278 (GRCm39)	D483N	unknown	Het
Scmh1	T	A	4: 120,325,586 (GRCm39)	F101Y	probably damaging	Het
Sgo2a	T	A	1: 58,055,511 (GRCm39)	V565E	probably damaging	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Skint6	T	A	4: 113,095,381 (GRCm39)	R93*	probably null	Het
Skint7	T	C	4: 111,839,375 (GRCm39)	V223A	possibly damaging	Het
Slc25a2	T	C	18: 37,770,939 (GRCm39)	I197V	probably benign	Het
Slit2	A	G	5: 48,374,816 (GRCm39)	T361A	probably benign	Het
Sugp1	G	A	8: 70,522,776 (GRCm39)	G492D	probably damaging	Het
Svep1	C	T	4: 58,145,301 (GRCm39)	G388D	probably damaging	Het
Tbpl2	G	T	2: 23,983,888 (GRCm39)	A183E	probably damaging	Het
Tcerg1l	G	T	7: 137,831,619 (GRCm39)	P453T	probably damaging	Het
Tdpoz2	T	C	3: 93,559,046 (GRCm39)	T309A	probably benign	Het
Thbs4	T	A	13: 92,927,306 (GRCm39)	Y61F	probably benign	Het
Tmem117	C	A	15: 94,992,656 (GRCm39)	P439T	probably damaging	Het
Tmem151a	A	G	19: 5,132,993 (GRCm39)	V71A	probably benign	Het
Tmem268	G	T	4: 63,486,691 (GRCm39)		probably benign	Het
Tmem43	T	A	6: 91,454,356 (GRCm39)	Y48N	possibly damaging	Het
Tmigd1	T	C	11: 76,804,812 (GRCm39)	V217A	probably benign	Het
Tmprss11g	A	T	5: 86,645,188 (GRCm39)		probably benign	Het
Tsn	T	C	1: 118,237,551 (GRCm39)	I38V	probably benign	Het
Ttc41	A	T	10: 86,569,518 (GRCm39)	Y632F	probably damaging	Het
Vmn2r117	C	T	17: 23,694,552 (GRCm39)		probably benign	Het
Vmn2r12	A	T	5: 109,238,351 (GRCm39)	I463N	probably benign	Het
Wdsub1	T	A	2: 59,683,176 (GRCm39)	N466I	probably damaging	Het
Zdhhc21	A	T	4: 82,762,427 (GRCm39)	I56N	probably benign	Het
Zfand4	A	G	6: 116,250,617 (GRCm39)	T16A	possibly damaging	Het
Zmym4	T	C	4: 126,842,268 (GRCm39)	E15G	probably damaging	Het

Other mutations in Dnajc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Dnajc6	APN	4	101,365,286 (GRCm39)	intron	probably benign
IGL02336:Dnajc6	APN	4	101,471,483 (GRCm39)	splice site	probably null
IGL02551:Dnajc6	APN	4	101,496,550 (GRCm39)	missense	probably damaging	1.00
IGL02801:Dnajc6	APN	4	101,455,010 (GRCm39)	missense	probably benign	0.33
IGL03107:Dnajc6	APN	4	101,474,057 (GRCm39)	missense	probably damaging	1.00
IGL03271:Dnajc6	APN	4	101,365,274 (GRCm39)	intron	probably benign
R0091:Dnajc6	UTSW	4	101,473,974 (GRCm39)	splice site	probably benign
R0384:Dnajc6	UTSW	4	101,456,153 (GRCm39)	missense	probably damaging	1.00
R0546:Dnajc6	UTSW	4	101,492,388 (GRCm39)	missense	probably damaging	0.99
R0689:Dnajc6	UTSW	4	101,468,450 (GRCm39)	missense	possibly damaging	0.91
R1239:Dnajc6	UTSW	4	101,492,313 (GRCm39)	missense	probably damaging	0.98
R1421:Dnajc6	UTSW	4	101,468,513 (GRCm39)	missense	probably damaging	0.97
R1424:Dnajc6	UTSW	4	101,496,544 (GRCm39)	missense	possibly damaging	0.92
R1563:Dnajc6	UTSW	4	101,456,334 (GRCm39)	missense	probably damaging	1.00
R1608:Dnajc6	UTSW	4	101,456,364 (GRCm39)	missense	probably damaging	1.00
R1757:Dnajc6	UTSW	4	101,455,028 (GRCm39)	missense	probably damaging	1.00
R1856:Dnajc6	UTSW	4	101,456,185 (GRCm39)	missense	probably damaging	1.00
R2032:Dnajc6	UTSW	4	101,471,435 (GRCm39)	missense	probably benign	0.39
R2518:Dnajc6	UTSW	4	101,470,127 (GRCm39)	missense	probably damaging	0.99
R4028:Dnajc6	UTSW	4	101,474,054 (GRCm39)	missense	probably damaging	1.00
R4088:Dnajc6	UTSW	4	101,496,593 (GRCm39)	missense	probably damaging	1.00
R4601:Dnajc6	UTSW	4	101,468,461 (GRCm39)	missense	probably damaging	1.00
R4602:Dnajc6	UTSW	4	101,468,461 (GRCm39)	missense	probably damaging	1.00
R4610:Dnajc6	UTSW	4	101,468,461 (GRCm39)	missense	probably damaging	1.00
R4755:Dnajc6	UTSW	4	101,407,996 (GRCm39)	missense	probably damaging	1.00
R4878:Dnajc6	UTSW	4	101,456,231 (GRCm39)	intron	probably benign
R4938:Dnajc6	UTSW	4	101,494,010 (GRCm39)	missense	probably damaging	1.00
R5373:Dnajc6	UTSW	4	101,472,824 (GRCm39)	missense	probably damaging	0.99
R5391:Dnajc6	UTSW	4	101,485,355 (GRCm39)	critical splice donor site	probably null
R5435:Dnajc6	UTSW	4	101,463,807 (GRCm39)	missense	probably damaging	0.99
R5760:Dnajc6	UTSW	4	101,475,839 (GRCm39)	missense	probably benign	0.39
R6044:Dnajc6	UTSW	4	101,473,774 (GRCm39)	missense	probably benign	0.22
R6086:Dnajc6	UTSW	4	101,455,004 (GRCm39)	missense	probably benign	0.45
R6460:Dnajc6	UTSW	4	101,472,795 (GRCm39)	missense	probably damaging	1.00
R6495:Dnajc6	UTSW	4	101,492,262 (GRCm39)	nonsense	probably null
R6956:Dnajc6	UTSW	4	101,471,470 (GRCm39)	missense	probably damaging	0.97
R7072:Dnajc6	UTSW	4	101,472,812 (GRCm39)	missense	probably damaging	1.00
R7155:Dnajc6	UTSW	4	101,470,142 (GRCm39)	missense	probably damaging	1.00
R7192:Dnajc6	UTSW	4	101,455,000 (GRCm39)	missense	probably benign	0.02
R7226:Dnajc6	UTSW	4	101,496,569 (GRCm39)	missense	probably damaging	1.00
R7298:Dnajc6	UTSW	4	101,463,808 (GRCm39)	missense	probably benign	0.09
R7612:Dnajc6	UTSW	4	101,455,123 (GRCm39)	missense	probably benign	0.40
R7622:Dnajc6	UTSW	4	101,497,688 (GRCm39)	missense	probably damaging	1.00
R7652:Dnajc6	UTSW	4	101,463,874 (GRCm39)	missense	probably damaging	0.98
R7789:Dnajc6	UTSW	4	101,475,729 (GRCm39)	missense	possibly damaging	0.82
R8010:Dnajc6	UTSW	4	101,475,611 (GRCm39)	missense	probably benign	0.01
R8201:Dnajc6	UTSW	4	101,475,960 (GRCm39)	missense	probably benign	0.08
R8305:Dnajc6	UTSW	4	101,480,984 (GRCm39)	missense	probably damaging	1.00
R8912:Dnajc6	UTSW	4	101,468,513 (GRCm39)	missense	probably damaging	1.00
R9012:Dnajc6	UTSW	4	101,470,156 (GRCm39)	missense	probably damaging	1.00
R9052:Dnajc6	UTSW	4	101,496,617 (GRCm39)	missense	probably damaging	0.97
R9091:Dnajc6	UTSW	4	101,496,559 (GRCm39)	missense	possibly damaging	0.80
R9160:Dnajc6	UTSW	4	101,470,258 (GRCm39)	unclassified	probably benign
R9258:Dnajc6	UTSW	4	101,475,813 (GRCm39)	missense	probably benign	0.07
R9270:Dnajc6	UTSW	4	101,496,559 (GRCm39)	missense	possibly damaging	0.80
R9294:Dnajc6	UTSW	4	101,408,054 (GRCm39)	critical splice donor site	probably null
R9386:Dnajc6	UTSW	4	101,494,098 (GRCm39)	critical splice donor site	probably null
R9664:Dnajc6	UTSW	4	101,475,821 (GRCm39)	missense	probably benign	0.04
Z1088:Dnajc6	UTSW	4	101,496,526 (GRCm39)	missense	probably damaging	1.00
Z1177:Dnajc6	UTSW	4	101,496,625 (GRCm39)	missense	possibly damaging	0.91

Posted On

2015-12-18