Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01868:Dnajc13'

178627

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc13

Ensembl Gene

ENSMUSG00000032560

Gene Name

DnaJ heat shock protein family (Hsp40) member C13

Synonyms

LOC382100, D030002L11Rik, Rme8

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

IGL01868

Quality Score

Status

Chromosome

Chromosomal Location

104151282-104262930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104162745 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 2050 (H2050Q)

Ref Sequence

ENSEMBL: ENSMUSP00000035170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035170] [ENSMUST00000186788] [ENSMUST00000188885]

AlphaFold

D4AFX7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035170
AA Change: H2050Q

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: H2050Q

Domain	Start	End	E-Value	Type
low complexity region	706	719	N/A	INTRINSIC
low complexity region	832	843	N/A	INTRINSIC
low complexity region	913	926	N/A	INTRINSIC
Blast:ARM	927	963	6e-12	BLAST
Pfam:DUF4339	976	1020	1.5e-18	PFAM
Blast:ARM	1071	1110	5e-12	BLAST
DnaJ	1300	1358	5.69e-18	SMART
low complexity region	1417	1426	N/A	INTRINSIC
low complexity region	1813	1829	N/A	INTRINSIC
Blast:ARM	1843	1884	6e-8	BLAST
low complexity region	1968	1984	N/A	INTRINSIC
low complexity region	2006	2016	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186788
AA Change: H2055Q

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: H2055Q

Domain	Start	End	E-Value	Type
low complexity region	706	719	N/A	INTRINSIC
low complexity region	837	848	N/A	INTRINSIC
low complexity region	918	931	N/A	INTRINSIC
Blast:ARM	932	968	6e-12	BLAST
Pfam:DUF4339	980	1025	8.1e-14	PFAM
Blast:ARM	1076	1115	5e-12	BLAST
DnaJ	1305	1363	5.69e-18	SMART
low complexity region	1422	1431	N/A	INTRINSIC
low complexity region	1818	1834	N/A	INTRINSIC
Blast:ARM	1848	1889	6e-8	BLAST
low complexity region	1973	1989	N/A	INTRINSIC
low complexity region	2011	2021	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188425

Predicted Effect

unknown
Transcript: ENSMUST00000188885
AA Change: H12Q

Predicted Effect

unknown
Transcript: ENSMUST00000188998
AA Change: H67Q

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	A	18: 67,414,148 (GRCm38)	T569M	possibly damaging	Het
Aldh1l1	A	T	6: 90,583,230 (GRCm38)	K620*	probably null	Het
Amdhd2	G	T	17: 24,157,530 (GRCm38)	T346K	probably damaging	Het
Arhgap44	T	C	11: 65,012,078 (GRCm38)	D521G	probably damaging	Het
Ccdc146	C	A	5: 21,333,054 (GRCm38)	A91S	probably damaging	Het
Ccdc187	C	A	2: 26,280,948 (GRCm38)	R506L	probably benign	Het
Cd37	T	C	7: 45,236,179 (GRCm38)	Q128R	probably benign	Het
Cdh22	T	A	2: 165,157,358 (GRCm38)	M185L	probably damaging	Het
Cib2	A	T	9: 54,548,475 (GRCm38)	N68K	probably damaging	Het
Ddx46	C	T	13: 55,639,870 (GRCm38)	R96*	probably null	Het
Drgx	C	A	14: 32,608,377 (GRCm38)	F150L	probably damaging	Het
Duox1	A	G	2: 122,338,407 (GRCm38)	H1172R	probably benign	Het
Eftud2	C	T	11: 102,869,127 (GRCm38)	V132I	probably benign	Het
Fcrl5	G	A	3: 87,443,707 (GRCm38)	D87N	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm38)	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771 (GRCm38)	W41G	probably benign	Het
Kat6a	T	C	8: 22,926,455 (GRCm38)	F660L	probably damaging	Het
Lipo2	T	C	19: 33,730,838 (GRCm38)	M259V	probably benign	Het
Lrrcc1	T	A	3: 14,554,357 (GRCm38)	L90*	probably null	Het
Lsm1	G	A	8: 25,793,793 (GRCm38)		probably null	Het
Luzp1	T	C	4: 136,542,737 (GRCm38)	I757T	probably damaging	Het
Micall1	A	G	15: 79,115,060 (GRCm38)	I76V	probably benign	Het
Mmp21	A	T	7: 133,675,914 (GRCm38)	D394E	probably damaging	Het
Mtfr1l	T	C	4: 134,530,707 (GRCm38)	D68G	probably null	Het
Necab2	A	G	8: 119,462,576 (GRCm38)	S162G	probably benign	Het
Or11a4	A	T	17: 37,225,152 (GRCm38)	Q9L	probably benign	Het
Or4c100	T	C	2: 88,525,715 (GRCm38)	V44A	possibly damaging	Het
Or51b17	G	A	7: 103,893,376 (GRCm38)	R120*	probably null	Het
Or6n1	C	T	1: 174,089,370 (GRCm38)	T110I	possibly damaging	Het
Pde7b	A	T	10: 20,407,165 (GRCm38)	C376*	probably null	Het
Pira12	G	A	7: 3,897,175 (GRCm38)	Q143*	probably null	Het
Plcb2	A	G	2: 118,709,590 (GRCm38)	L1074P	probably damaging	Het
Plcb2	G	T	2: 118,711,387 (GRCm38)	T914N	probably benign	Het
Prph	C	A	15: 99,056,343 (GRCm38)	D207E	probably damaging	Het
Rbp4	C	A	19: 38,124,520 (GRCm38)	R37L	probably damaging	Het
Ryr3	T	C	2: 112,803,158 (GRCm38)		probably benign	Het
Sardh	T	G	2: 27,227,147 (GRCm38)	Q496P	probably benign	Het
Serpina1f	T	A	12: 103,693,445 (GRCm38)	N193Y	probably benign	Het
Slc10a7	G	A	8: 78,697,336 (GRCm38)		probably null	Het
Spg7	T	C	8: 123,090,236 (GRCm38)		probably null	Het
Sphkap	T	C	1: 83,280,399 (GRCm38)		probably null	Het
Tas2r121	T	A	6: 132,700,272 (GRCm38)	I246L	probably benign	Het
Tbc1d9b	T	C	11: 50,161,633 (GRCm38)	F889S	probably damaging	Het
Tcp10a	T	C	17: 7,329,864 (GRCm38)	M140T	possibly damaging	Het
Tctn2	G	A	5: 124,616,528 (GRCm38)		noncoding transcript	Het
Tfap2b	G	T	1: 19,214,282 (GRCm38)	R138L	probably damaging	Het
Tnrc18	T	C	5: 142,771,812 (GRCm38)	T985A	unknown	Het
Treml1	G	A	17: 48,366,007 (GRCm38)	V211I	probably benign	Het
Ubr4	C	T	4: 139,412,678 (GRCm38)	Q1191*	probably null	Het
Vim	G	A	2: 13,578,438 (GRCm38)	R217H	possibly damaging	Het
Vmn2r129	C	T	4: 156,338,254 (GRCm38)		noncoding transcript	Het
Vmn2r77	A	G	7: 86,803,016 (GRCm38)	D468G	probably benign	Het
Vmn2r98	G	T	17: 19,066,286 (GRCm38)	V349F	probably benign	Het
Vwa7	A	T	17: 35,021,259 (GRCm38)	E401V	probably null	Het
Zfp119b	C	A	17: 55,939,866 (GRCm38)	V75L	possibly damaging	Het
Zfp287	C	T	11: 62,715,257 (GRCm38)	E275K	probably benign	Het

Other mutations in Dnajc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Dnajc13	APN	9	104,162,780 (GRCm38)	missense	probably benign	0.15
IGL00754:Dnajc13	APN	9	104,174,498 (GRCm38)	nonsense	probably null
IGL00914:Dnajc13	APN	9	104,212,882 (GRCm38)	missense	possibly damaging	0.90
IGL01014:Dnajc13	APN	9	104,203,218 (GRCm38)	missense	probably damaging	1.00
IGL01077:Dnajc13	APN	9	104,231,021 (GRCm38)	missense	probably benign	0.11
IGL01137:Dnajc13	APN	9	104,160,490 (GRCm38)	missense	probably benign
IGL01305:Dnajc13	APN	9	104,230,637 (GRCm38)	splice site	probably null
IGL01707:Dnajc13	APN	9	104,228,979 (GRCm38)	missense	probably damaging	1.00
IGL01781:Dnajc13	APN	9	104,162,359 (GRCm38)	missense	possibly damaging	0.82
IGL01950:Dnajc13	APN	9	104,190,432 (GRCm38)	missense	possibly damaging	0.85
IGL02102:Dnajc13	APN	9	104,229,009 (GRCm38)	missense	possibly damaging	0.78
IGL02350:Dnajc13	APN	9	104,162,359 (GRCm38)	missense	possibly damaging	0.82
IGL02357:Dnajc13	APN	9	104,162,359 (GRCm38)	missense	possibly damaging	0.82
IGL02470:Dnajc13	APN	9	104,175,747 (GRCm38)	missense	probably benign	0.17
IGL02888:Dnajc13	APN	9	104,180,062 (GRCm38)	splice site	probably benign
IGL03079:Dnajc13	APN	9	104,212,869 (GRCm38)	nonsense	probably null
IGL03179:Dnajc13	APN	9	104,167,435 (GRCm38)	missense	probably benign	0.42
IGL03293:Dnajc13	APN	9	104,174,426 (GRCm38)	missense	possibly damaging	0.64
impressario	UTSW	9	104,213,886 (GRCm38)	missense	probably benign	0.12
Kaiser	UTSW	9	104,214,188 (GRCm38)	missense	probably damaging	1.00
BB008:Dnajc13	UTSW	9	104,218,564 (GRCm38)	missense	probably benign	0.02
BB018:Dnajc13	UTSW	9	104,218,564 (GRCm38)	missense	probably benign	0.02
PIT4142001:Dnajc13	UTSW	9	104,238,473 (GRCm38)	missense	probably damaging	0.96
R0323:Dnajc13	UTSW	9	104,156,892 (GRCm38)	missense	probably damaging	1.00
R0361:Dnajc13	UTSW	9	104,167,059 (GRCm38)	missense	probably benign	0.18
R0480:Dnajc13	UTSW	9	104,200,509 (GRCm38)	missense	probably damaging	0.98
R0558:Dnajc13	UTSW	9	104,201,952 (GRCm38)	critical splice acceptor site	probably null
R0707:Dnajc13	UTSW	9	104,172,582 (GRCm38)	missense	probably benign	0.12
R0831:Dnajc13	UTSW	9	104,172,612 (GRCm38)	missense	probably damaging	1.00
R1234:Dnajc13	UTSW	9	104,214,157 (GRCm38)	missense	possibly damaging	0.64
R1433:Dnajc13	UTSW	9	104,180,121 (GRCm38)	missense	probably damaging	1.00
R1463:Dnajc13	UTSW	9	104,178,940 (GRCm38)	missense	probably damaging	1.00
R1464:Dnajc13	UTSW	9	104,214,167 (GRCm38)	missense	probably benign	0.10
R1464:Dnajc13	UTSW	9	104,214,167 (GRCm38)	missense	probably benign	0.10
R1489:Dnajc13	UTSW	9	104,231,035 (GRCm38)	missense	possibly damaging	0.94
R1575:Dnajc13	UTSW	9	104,156,838 (GRCm38)	missense	probably benign	0.29
R1750:Dnajc13	UTSW	9	104,221,477 (GRCm38)	missense	probably damaging	0.98
R1903:Dnajc13	UTSW	9	104,228,937 (GRCm38)	missense	probably damaging	0.98
R2066:Dnajc13	UTSW	9	104,221,441 (GRCm38)	missense	probably benign	0.01
R2206:Dnajc13	UTSW	9	104,203,518 (GRCm38)	missense	probably damaging	1.00
R3160:Dnajc13	UTSW	9	104,219,898 (GRCm38)	missense	possibly damaging	0.57
R3162:Dnajc13	UTSW	9	104,219,898 (GRCm38)	missense	possibly damaging	0.57
R4158:Dnajc13	UTSW	9	104,190,442 (GRCm38)	missense	probably damaging	0.96
R4460:Dnajc13	UTSW	9	104,181,063 (GRCm38)	missense	probably damaging	0.96
R4537:Dnajc13	UTSW	9	104,186,805 (GRCm38)	intron	probably benign
R4538:Dnajc13	UTSW	9	104,186,805 (GRCm38)	intron	probably benign
R4631:Dnajc13	UTSW	9	104,190,417 (GRCm38)	missense	probably damaging	1.00
R4662:Dnajc13	UTSW	9	104,207,758 (GRCm38)	missense	probably damaging	1.00
R4722:Dnajc13	UTSW	9	104,213,818 (GRCm38)	missense	probably benign
R4731:Dnajc13	UTSW	9	104,186,805 (GRCm38)	intron	probably benign
R4732:Dnajc13	UTSW	9	104,186,805 (GRCm38)	intron	probably benign
R4758:Dnajc13	UTSW	9	104,172,574 (GRCm38)	missense	probably damaging	1.00
R4801:Dnajc13	UTSW	9	104,175,727 (GRCm38)	missense	probably benign	0.16
R4802:Dnajc13	UTSW	9	104,175,727 (GRCm38)	missense	probably benign	0.16
R4928:Dnajc13	UTSW	9	104,233,638 (GRCm38)	missense	possibly damaging	0.93
R4944:Dnajc13	UTSW	9	104,167,387 (GRCm38)	unclassified	probably benign
R4979:Dnajc13	UTSW	9	104,186,723 (GRCm38)	missense	probably damaging	1.00
R5177:Dnajc13	UTSW	9	104,230,986 (GRCm38)	missense	probably benign	0.39
R5190:Dnajc13	UTSW	9	104,174,525 (GRCm38)	missense	probably benign	0.00
R5256:Dnajc13	UTSW	9	104,203,329 (GRCm38)	missense	possibly damaging	0.86
R5452:Dnajc13	UTSW	9	104,192,114 (GRCm38)	missense	probably benign	0.01
R5657:Dnajc13	UTSW	9	104,228,537 (GRCm38)	missense	probably damaging	1.00
R5752:Dnajc13	UTSW	9	104,192,774 (GRCm38)	splice site	probably null
R5789:Dnajc13	UTSW	9	104,214,188 (GRCm38)	missense	probably damaging	1.00
R5837:Dnajc13	UTSW	9	104,176,666 (GRCm38)	missense	possibly damaging	0.88
R5846:Dnajc13	UTSW	9	104,190,385 (GRCm38)	missense	probably damaging	0.99
R5982:Dnajc13	UTSW	9	104,184,615 (GRCm38)	missense	possibly damaging	0.77
R6189:Dnajc13	UTSW	9	104,213,886 (GRCm38)	missense	probably benign	0.12
R6355:Dnajc13	UTSW	9	104,203,270 (GRCm38)	missense	probably damaging	0.99
R6483:Dnajc13	UTSW	9	104,207,804 (GRCm38)	missense	probably damaging	0.96
R6613:Dnajc13	UTSW	9	104,213,877 (GRCm38)	missense	probably benign	0.07
R6962:Dnajc13	UTSW	9	104,181,009 (GRCm38)	missense	probably benign	0.02
R7048:Dnajc13	UTSW	9	104,203,414 (GRCm38)	critical splice donor site	probably null
R7101:Dnajc13	UTSW	9	104,165,022 (GRCm38)	missense	possibly damaging	0.92
R7304:Dnajc13	UTSW	9	104,238,514 (GRCm38)	missense	probably benign	0.00
R7353:Dnajc13	UTSW	9	104,230,031 (GRCm38)	missense	possibly damaging	0.89
R7366:Dnajc13	UTSW	9	104,184,706 (GRCm38)	missense	probably benign	0.43
R7528:Dnajc13	UTSW	9	104,178,965 (GRCm38)	missense	possibly damaging	0.65
R7635:Dnajc13	UTSW	9	104,162,367 (GRCm38)	missense	probably benign
R7673:Dnajc13	UTSW	9	104,233,692 (GRCm38)	missense	probably benign	0.09
R7856:Dnajc13	UTSW	9	104,167,485 (GRCm38)	missense	possibly damaging	0.83
R7931:Dnajc13	UTSW	9	104,218,564 (GRCm38)	missense	probably benign	0.02
R7995:Dnajc13	UTSW	9	104,174,363 (GRCm38)	missense	probably damaging	1.00
R8319:Dnajc13	UTSW	9	104,190,391 (GRCm38)	missense	probably benign	0.00
R8354:Dnajc13	UTSW	9	104,217,728 (GRCm38)	missense	probably damaging	1.00
R8680:Dnajc13	UTSW	9	104,180,139 (GRCm38)	missense	probably benign
R8686:Dnajc13	UTSW	9	104,170,805 (GRCm38)	missense	probably benign	0.00
R8707:Dnajc13	UTSW	9	104,192,648 (GRCm38)	missense	probably damaging	0.96
R8847:Dnajc13	UTSW	9	104,180,161 (GRCm38)	nonsense	probably null
R8868:Dnajc13	UTSW	9	104,165,788 (GRCm38)	missense	probably benign	0.13
R8986:Dnajc13	UTSW	9	104,180,131 (GRCm38)	missense	probably damaging	1.00
R9139:Dnajc13	UTSW	9	104,207,840 (GRCm38)	missense	probably benign	0.02
R9334:Dnajc13	UTSW	9	104,174,460 (GRCm38)	missense	probably benign	0.00
R9353:Dnajc13	UTSW	9	104,190,372 (GRCm38)	missense	probably benign	0.31
R9470:Dnajc13	UTSW	9	104,230,720 (GRCm38)	missense	probably benign	0.01
R9528:Dnajc13	UTSW	9	104,237,705 (GRCm38)	missense	probably benign
R9578:Dnajc13	UTSW	9	104,238,527 (GRCm38)	missense	probably benign	0.04
R9658:Dnajc13	UTSW	9	104,238,529 (GRCm38)	missense	probably benign	0.11
R9691:Dnajc13	UTSW	9	104,165,012 (GRCm38)	missense	probably damaging	1.00
X0017:Dnajc13	UTSW	9	104,238,478 (GRCm38)	missense	possibly damaging	0.90
X0028:Dnajc13	UTSW	9	104,165,018 (GRCm38)	missense	probably damaging	1.00

Posted On

2014-05-07