Mutagenetix > Incidental Mutation

Incidental Mutation 'R4601:Dnajc6'

345617

Institutional Source

Beutler Lab

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 #

R4601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101353828-101499996 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101468461 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 166 (F166L)

Ref Sequence

ENSEMBL: ENSMUSP00000102543 (fasta)

Gene Model

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

AlphaFold

Q80TZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000038207
AA Change: F204L

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

SMART Domains

Protein: ENSMUSP00000044251
Gene: ENSMUSG00000028528
AA Change: F204L

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: F166L

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

SMART Domains

Protein: ENSMUSP00000092560
Gene: ENSMUSG00000028528
AA Change: F166L

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: F166L

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

SMART Domains

Protein: ENSMUSP00000102542
Gene: ENSMUSG00000028528
AA Change: F166L

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: F166L

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

SMART Domains

Protein: ENSMUSP00000102543
Gene: ENSMUSG00000028528
AA Change: F166L

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: F234L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102546
Gene: ENSMUSG00000028528
AA Change: F234L

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
AA Change: F166L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000119542
Gene: ENSMUSG00000028528
AA Change: F166L

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

Meta Mutation Damage Score

0.1234

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.5%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Abca16	T	G	7: 120,035,920 (GRCm39)	F334L	probably damaging	Het
Abcc4	T	A	14: 118,869,575 (GRCm39)	M186L	probably benign	Het
Agap3	T	C	5: 24,681,406 (GRCm39)	L120P	probably damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aldh1a7	A	T	19: 20,693,343 (GRCm39)	V192D	probably damaging	Het
Ankrd36	A	G	11: 5,520,102 (GRCm39)	D59G	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cacna1e	A	G	1: 154,347,359 (GRCm39)	V936A	probably benign	Het
Camkv	T	C	9: 107,823,295 (GRCm39)	V107A	probably damaging	Het
Camp	T	C	9: 109,677,730 (GRCm39)	E80G	probably damaging	Het
Cblif	A	C	19: 11,729,554 (GRCm39)	D171A	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd101	G	A	3: 100,901,204 (GRCm39)	T960M	possibly damaging	Het
Cdk18	A	G	1: 132,044,657 (GRCm39)	V323A	possibly damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cemip	T	C	7: 83,600,826 (GRCm39)	I932V	probably damaging	Het
Cep250	C	A	2: 155,803,973 (GRCm39)	Q28K	probably benign	Het
Ces2f	T	C	8: 105,676,596 (GRCm39)	C97R	probably damaging	Het
Cfap126	G	T	1: 170,941,627 (GRCm39)	G41C	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Chat	T	C	14: 32,146,112 (GRCm39)	M354V	probably benign	Het
Clca4b	A	T	3: 144,632,945 (GRCm39)	D168E	possibly damaging	Het
Cpxm1	T	A	2: 130,235,496 (GRCm39)	M499L	possibly damaging	Het
Dennd3	T	A	15: 73,439,009 (GRCm39)	W1126R	probably damaging	Het
Dgkb	T	C	12: 38,652,819 (GRCm39)	S735P	probably damaging	Het
Dlec1	T	C	9: 118,976,202 (GRCm39)		probably null	Het
Dph5	A	G	3: 115,693,426 (GRCm39)	N115D	possibly damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erich3	A	T	3: 154,470,375 (GRCm39)	D136V	unknown	Het
Exoc2	T	C	13: 31,066,251 (GRCm39)	N475S	probably benign	Het
Fam217a	T	C	13: 35,095,285 (GRCm39)	D310G	probably damaging	Het
Fam53a	C	T	5: 33,758,007 (GRCm39)	S372N	probably benign	Het
Fbn2	C	G	18: 58,186,805 (GRCm39)	G1699R	probably damaging	Het
Fbxo46	T	C	7: 18,869,489 (GRCm39)	V36A	probably benign	Het
Fhip1a	T	C	3: 85,648,487 (GRCm39)	M26V	probably damaging	Het
G6pc1	A	G	11: 101,263,567 (GRCm39)	Y127C	probably damaging	Het
Gba2	A	G	4: 43,573,810 (GRCm39)	F161L	probably damaging	Het
Gja1	T	C	10: 56,264,325 (GRCm39)	L228P	probably damaging	Het
Gm20834	A	G	Y: 10,323,178 (GRCm39)	V86A	probably benign	Het
Hmcn1	A	T	1: 150,614,396 (GRCm39)	C1337S	probably damaging	Het
Il1rl1	T	A	1: 40,480,460 (GRCm39)	S30T	possibly damaging	Het
Itgb4	A	G	11: 115,896,548 (GRCm39)	T1436A	probably damaging	Het
Itk	T	A	11: 46,227,342 (GRCm39)	Q427L	probably benign	Het
Klhdc4	T	C	8: 122,526,266 (GRCm39)	E291G	probably damaging	Het
Map4	T	A	9: 109,881,887 (GRCm39)	S250R	possibly damaging	Het
Mnt	T	A	11: 74,727,285 (GRCm39)	V57E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtcl2	T	C	2: 156,881,844 (GRCm39)	K736R	probably benign	Het
Musk	A	T	4: 58,301,625 (GRCm39)	I128F	probably damaging	Het
Myh4	G	A	11: 67,141,136 (GRCm39)	A733T	possibly damaging	Het
Myo5a	T	A	9: 75,043,670 (GRCm39)	F220I	probably damaging	Het
Npas3	A	G	12: 54,091,361 (GRCm39)	H305R	probably damaging	Het
Nrcam	A	T	12: 44,637,839 (GRCm39)	Y1132F	probably damaging	Het
Nt5c3b	A	C	11: 100,323,744 (GRCm39)	D189E	probably benign	Het
Nuf2	A	G	1: 169,333,683 (GRCm39)	L331P	probably damaging	Het
Nup214	C	T	2: 31,887,977 (GRCm39)	T646I	probably benign	Het
Or14j9	T	C	17: 37,875,076 (GRCm39)	N42S	probably damaging	Het
Pcdh18	T	C	3: 49,699,174 (GRCm39)	E1096G	probably damaging	Het
Pgm2	T	A	5: 64,265,070 (GRCm39)	F364I	probably benign	Het
Pikfyve	A	G	1: 65,273,421 (GRCm39)	N612S	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Prkd2	G	T	7: 16,577,573 (GRCm39)		probably benign	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Sav1	A	T	12: 70,031,095 (GRCm39)	D142E	probably benign	Het
Scn3b	C	A	9: 40,199,719 (GRCm39)	P212T	probably damaging	Het
Sel1l	A	T	12: 91,799,827 (GRCm39)		probably null	Het
Septin9	A	G	11: 117,251,310 (GRCm39)	K543E	probably damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Snrpa	A	G	7: 26,894,958 (GRCm39)	M1T	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Stradb	G	A	1: 59,032,731 (GRCm39)	S361N	probably damaging	Het
Sult3a2	T	C	10: 33,658,083 (GRCm39)	K10R	probably benign	Het
Susd4	A	G	1: 182,686,025 (GRCm39)	N192D	probably damaging	Het
Tcp10a	T	A	17: 7,593,374 (GRCm39)	D32E	probably benign	Het
Tdpoz4	T	A	3: 93,704,339 (GRCm39)	V212D	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tex55	A	G	16: 38,648,380 (GRCm39)	V243A	probably benign	Het
Traj37	T	C	14: 54,418,996 (GRCm39)		probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Vmn2r115	T	A	17: 23,565,373 (GRCm39)	L420Q	probably benign	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Wdr81	T	A	11: 75,336,484 (GRCm39)	Q516L	probably damaging	Het
Zfp516	A	G	18: 82,974,164 (GRCm39)	T121A	probably benign	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

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
IGL02887:Dnajc6	APN	4	101,496,497 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GCAAGTAGAATTTGTTTTCCTGAGC -3'
(R):5'- ATCATAGTTCAGGATAACAGCAACC -3'

Sequencing Primer
(F):5'- AAAAGTCTTTCCTTGATGCTTTGTG -3'
(R):5'- GTTCAGGATAACAGCAACCAATTAG -3'

Posted On

2015-09-25