Mutagenetix > Incidental Mutation

Incidental Mutation 'R5752:Dnajc13'

462616

Institutional Source

Beutler Lab

Gene Symbol

Dnajc13

Ensembl Gene

ENSMUSG00000032560

Gene Name

DnaJ heat shock protein family (Hsp40) member C13

Synonyms

Rme8, D030002L11Rik, LOC382100

MMRRC Submission

043357-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R5752 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104028481-104140129 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 104069973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139804 (fasta)

Gene Model

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

AlphaFold

D4AFX7

Predicted Effect

probably null
Transcript: ENSMUST00000035170

SMART Domains

Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560

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

probably null
Transcript: ENSMUST00000035170

SMART Domains

Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560

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

probably benign
Transcript: ENSMUST00000185503

Predicted Effect

probably null
Transcript: ENSMUST00000186788

SMART Domains

Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560

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

noncoding transcript
Transcript: ENSMUST00000188592

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189103

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (58/59)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330017A19Rik	C	A	17: 47,200,966 (GRCm39)		probably benign	Het
Aldh1l2	C	A	10: 83,356,244 (GRCm39)	G49C	probably damaging	Het
Arhgap26	G	A	18: 39,419,725 (GRCm39)	E11K	probably damaging	Het
Asns	C	T	6: 7,689,365 (GRCm39)	G46S	probably damaging	Het
Atrn	G	T	2: 130,748,464 (GRCm39)		probably benign	Het
Cep126	A	C	9: 8,120,746 (GRCm39)	Y92*	probably null	Het
Cfap69	T	C	5: 5,639,204 (GRCm39)	T567A	probably damaging	Het
Clgn	T	A	8: 84,123,670 (GRCm39)	Y61N	probably damaging	Het
Col28a1	T	G	6: 8,015,025 (GRCm39)	K793N	possibly damaging	Het
Cxcl9	C	A	5: 92,471,715 (GRCm39)	M108I	probably benign	Het
Cyp4f37	A	T	17: 32,850,306 (GRCm39)	I318F	probably damaging	Het
Daam1	T	C	12: 71,993,320 (GRCm39)	M363T	unknown	Het
Entpd2	G	A	2: 25,289,781 (GRCm39)		probably benign	Het
F3	T	A	3: 121,526,053 (GRCm39)	N205K	probably damaging	Het
Fat2	A	T	11: 55,180,063 (GRCm39)	F1426Y	possibly damaging	Het
Galnt6	A	T	15: 100,602,007 (GRCm39)	F267I	probably damaging	Het
Gm1322	G	A	2: 67,014,979 (GRCm39)		noncoding transcript	Het
Hdgfl3	A	C	7: 81,549,451 (GRCm39)	S143A	possibly damaging	Het
Ints7	T	A	1: 191,308,005 (GRCm39)	D12E	probably benign	Het
Kank3	A	G	17: 34,037,037 (GRCm39)	T114A	probably benign	Het
Lrp1b	A	G	2: 41,185,624 (GRCm39)	Y1364H	probably damaging	Het
Mef2b	A	G	8: 70,618,267 (GRCm39)	T116A	possibly damaging	Het
Megf8	C	T	7: 25,054,539 (GRCm39)	T1885I	probably damaging	Het
Mrps11	A	G	7: 78,433,343 (GRCm39)	K30E	probably benign	Het
Naca	T	A	10: 127,877,797 (GRCm39)		probably benign	Het
Ncoa4-ps	A	G	12: 119,226,349 (GRCm39)		noncoding transcript	Het
Nhsl3	GGTG	GGTGTG	4: 129,117,773 (GRCm39)		probably null	Het
Or2at1	T	C	7: 99,417,155 (GRCm39)	I262T	probably benign	Het
Paip2b	C	T	6: 83,808,252 (GRCm39)		probably null	Het
Plcb2	G	T	2: 118,541,532 (GRCm39)		probably benign	Het
Plcd4	A	G	1: 74,587,131 (GRCm39)		probably null	Het
Pnpla8	A	G	12: 44,329,670 (GRCm39)	N74S	probably benign	Het
Pot1b	A	T	17: 55,994,834 (GRCm39)	I276N	probably damaging	Het
Qprt	C	T	7: 126,708,416 (GRCm39)	G5D	probably benign	Het
Rab11fip1	T	C	8: 27,646,614 (GRCm39)	N154S	probably damaging	Het
Rin3	G	A	12: 102,279,378 (GRCm39)		probably benign	Het
Sdf4	C	T	4: 156,080,761 (GRCm39)	P37S	probably damaging	Het
Selp	A	T	1: 163,964,811 (GRCm39)	D491V	probably damaging	Het
Sh3gl3	A	G	7: 81,824,696 (GRCm39)		probably benign	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Spata31d1e	T	C	13: 59,891,016 (GRCm39)	Y268C	probably damaging	Het
Tas2r134	A	G	2: 51,517,880 (GRCm39)	R120G	probably damaging	Het
Tgfbr3	T	C	5: 107,287,673 (GRCm39)	R509G	probably benign	Het
Tle3	T	A	9: 61,314,753 (GRCm39)	Y231N	probably damaging	Het
Top6bl	C	A	19: 4,676,048 (GRCm39)	A695S	probably benign	Het
Ttc41	C	T	10: 86,594,210 (GRCm39)	T881I	probably benign	Het
Ttll8	T	C	15: 88,816,931 (GRCm39)	Y271C	probably benign	Het
Ttn	A	T	2: 76,778,328 (GRCm39)	I1307K	possibly damaging	Het
Ube2k	A	G	5: 65,723,411 (GRCm39)	D48G	probably damaging	Het
Vcan	T	C	13: 89,828,069 (GRCm39)	T3126A	probably damaging	Het
Vps13d	T	C	4: 144,875,540 (GRCm39)	T1656A	probably benign	Het
Zzz3	C	A	3: 152,157,759 (GRCm39)	S777R	possibly damaging	Het

Other mutations in Dnajc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Dnajc13	APN	9	104,039,979 (GRCm39)	missense	probably benign	0.15
IGL00754:Dnajc13	APN	9	104,051,697 (GRCm39)	nonsense	probably null
IGL00914:Dnajc13	APN	9	104,090,081 (GRCm39)	missense	possibly damaging	0.90
IGL01014:Dnajc13	APN	9	104,080,417 (GRCm39)	missense	probably damaging	1.00
IGL01077:Dnajc13	APN	9	104,108,220 (GRCm39)	missense	probably benign	0.11
IGL01137:Dnajc13	APN	9	104,037,689 (GRCm39)	missense	probably benign
IGL01305:Dnajc13	APN	9	104,107,836 (GRCm39)	splice site	probably null
IGL01707:Dnajc13	APN	9	104,106,178 (GRCm39)	missense	probably damaging	1.00
IGL01781:Dnajc13	APN	9	104,039,558 (GRCm39)	missense	possibly damaging	0.82
IGL01868:Dnajc13	APN	9	104,039,944 (GRCm39)	missense	possibly damaging	0.83
IGL01950:Dnajc13	APN	9	104,067,631 (GRCm39)	missense	possibly damaging	0.85
IGL02102:Dnajc13	APN	9	104,106,208 (GRCm39)	missense	possibly damaging	0.78
IGL02350:Dnajc13	APN	9	104,039,558 (GRCm39)	missense	possibly damaging	0.82
IGL02357:Dnajc13	APN	9	104,039,558 (GRCm39)	missense	possibly damaging	0.82
IGL02470:Dnajc13	APN	9	104,052,946 (GRCm39)	missense	probably benign	0.17
IGL02888:Dnajc13	APN	9	104,057,261 (GRCm39)	splice site	probably benign
IGL03079:Dnajc13	APN	9	104,090,068 (GRCm39)	nonsense	probably null
IGL03179:Dnajc13	APN	9	104,044,634 (GRCm39)	missense	probably benign	0.42
IGL03293:Dnajc13	APN	9	104,051,625 (GRCm39)	missense	possibly damaging	0.64
impressario	UTSW	9	104,091,085 (GRCm39)	missense	probably benign	0.12
Kaiser	UTSW	9	104,091,387 (GRCm39)	missense	probably damaging	1.00
BB008:Dnajc13	UTSW	9	104,095,763 (GRCm39)	missense	probably benign	0.02
BB018:Dnajc13	UTSW	9	104,095,763 (GRCm39)	missense	probably benign	0.02
PIT4142001:Dnajc13	UTSW	9	104,115,672 (GRCm39)	missense	probably damaging	0.96
R0323:Dnajc13	UTSW	9	104,034,091 (GRCm39)	missense	probably damaging	1.00
R0361:Dnajc13	UTSW	9	104,044,258 (GRCm39)	missense	probably benign	0.18
R0480:Dnajc13	UTSW	9	104,077,708 (GRCm39)	missense	probably damaging	0.98
R0558:Dnajc13	UTSW	9	104,079,151 (GRCm39)	critical splice acceptor site	probably null
R0707:Dnajc13	UTSW	9	104,049,781 (GRCm39)	missense	probably benign	0.12
R0831:Dnajc13	UTSW	9	104,049,811 (GRCm39)	missense	probably damaging	1.00
R1234:Dnajc13	UTSW	9	104,091,356 (GRCm39)	missense	possibly damaging	0.64
R1433:Dnajc13	UTSW	9	104,057,320 (GRCm39)	missense	probably damaging	1.00
R1463:Dnajc13	UTSW	9	104,056,139 (GRCm39)	missense	probably damaging	1.00
R1464:Dnajc13	UTSW	9	104,091,366 (GRCm39)	missense	probably benign	0.10
R1464:Dnajc13	UTSW	9	104,091,366 (GRCm39)	missense	probably benign	0.10
R1489:Dnajc13	UTSW	9	104,108,234 (GRCm39)	missense	possibly damaging	0.94
R1575:Dnajc13	UTSW	9	104,034,037 (GRCm39)	missense	probably benign	0.29
R1750:Dnajc13	UTSW	9	104,098,676 (GRCm39)	missense	probably damaging	0.98
R1903:Dnajc13	UTSW	9	104,106,136 (GRCm39)	missense	probably damaging	0.98
R2066:Dnajc13	UTSW	9	104,098,640 (GRCm39)	missense	probably benign	0.01
R2206:Dnajc13	UTSW	9	104,080,717 (GRCm39)	missense	probably damaging	1.00
R3160:Dnajc13	UTSW	9	104,097,097 (GRCm39)	missense	possibly damaging	0.57
R3162:Dnajc13	UTSW	9	104,097,097 (GRCm39)	missense	possibly damaging	0.57
R4158:Dnajc13	UTSW	9	104,067,641 (GRCm39)	missense	probably damaging	0.96
R4460:Dnajc13	UTSW	9	104,058,262 (GRCm39)	missense	probably damaging	0.96
R4537:Dnajc13	UTSW	9	104,064,004 (GRCm39)	intron	probably benign
R4538:Dnajc13	UTSW	9	104,064,004 (GRCm39)	intron	probably benign
R4631:Dnajc13	UTSW	9	104,067,616 (GRCm39)	missense	probably damaging	1.00
R4662:Dnajc13	UTSW	9	104,084,957 (GRCm39)	missense	probably damaging	1.00
R4722:Dnajc13	UTSW	9	104,091,017 (GRCm39)	missense	probably benign
R4731:Dnajc13	UTSW	9	104,064,004 (GRCm39)	intron	probably benign
R4732:Dnajc13	UTSW	9	104,064,004 (GRCm39)	intron	probably benign
R4758:Dnajc13	UTSW	9	104,049,773 (GRCm39)	missense	probably damaging	1.00
R4801:Dnajc13	UTSW	9	104,052,926 (GRCm39)	missense	probably benign	0.16
R4802:Dnajc13	UTSW	9	104,052,926 (GRCm39)	missense	probably benign	0.16
R4928:Dnajc13	UTSW	9	104,110,837 (GRCm39)	missense	possibly damaging	0.93
R4944:Dnajc13	UTSW	9	104,044,586 (GRCm39)	unclassified	probably benign
R4979:Dnajc13	UTSW	9	104,063,922 (GRCm39)	missense	probably damaging	1.00
R5177:Dnajc13	UTSW	9	104,108,185 (GRCm39)	missense	probably benign	0.39
R5190:Dnajc13	UTSW	9	104,051,724 (GRCm39)	missense	probably benign	0.00
R5256:Dnajc13	UTSW	9	104,080,528 (GRCm39)	missense	possibly damaging	0.86
R5452:Dnajc13	UTSW	9	104,069,313 (GRCm39)	missense	probably benign	0.01
R5657:Dnajc13	UTSW	9	104,105,736 (GRCm39)	missense	probably damaging	1.00
R5789:Dnajc13	UTSW	9	104,091,387 (GRCm39)	missense	probably damaging	1.00
R5837:Dnajc13	UTSW	9	104,053,865 (GRCm39)	missense	possibly damaging	0.88
R5846:Dnajc13	UTSW	9	104,067,584 (GRCm39)	missense	probably damaging	0.99
R5982:Dnajc13	UTSW	9	104,061,814 (GRCm39)	missense	possibly damaging	0.77
R6189:Dnajc13	UTSW	9	104,091,085 (GRCm39)	missense	probably benign	0.12
R6355:Dnajc13	UTSW	9	104,080,469 (GRCm39)	missense	probably damaging	0.99
R6483:Dnajc13	UTSW	9	104,085,003 (GRCm39)	missense	probably damaging	0.96
R6613:Dnajc13	UTSW	9	104,091,076 (GRCm39)	missense	probably benign	0.07
R6962:Dnajc13	UTSW	9	104,058,208 (GRCm39)	missense	probably benign	0.02
R7048:Dnajc13	UTSW	9	104,080,613 (GRCm39)	critical splice donor site	probably null
R7101:Dnajc13	UTSW	9	104,042,221 (GRCm39)	missense	possibly damaging	0.92
R7304:Dnajc13	UTSW	9	104,115,713 (GRCm39)	missense	probably benign	0.00
R7353:Dnajc13	UTSW	9	104,107,230 (GRCm39)	missense	possibly damaging	0.89
R7366:Dnajc13	UTSW	9	104,061,905 (GRCm39)	missense	probably benign	0.43
R7528:Dnajc13	UTSW	9	104,056,164 (GRCm39)	missense	possibly damaging	0.65
R7635:Dnajc13	UTSW	9	104,039,566 (GRCm39)	missense	probably benign
R7673:Dnajc13	UTSW	9	104,110,891 (GRCm39)	missense	probably benign	0.09
R7856:Dnajc13	UTSW	9	104,044,684 (GRCm39)	missense	possibly damaging	0.83
R7931:Dnajc13	UTSW	9	104,095,763 (GRCm39)	missense	probably benign	0.02
R7995:Dnajc13	UTSW	9	104,051,562 (GRCm39)	missense	probably damaging	1.00
R8319:Dnajc13	UTSW	9	104,067,590 (GRCm39)	missense	probably benign	0.00
R8354:Dnajc13	UTSW	9	104,094,927 (GRCm39)	missense	probably damaging	1.00
R8680:Dnajc13	UTSW	9	104,057,338 (GRCm39)	missense	probably benign
R8686:Dnajc13	UTSW	9	104,048,004 (GRCm39)	missense	probably benign	0.00
R8707:Dnajc13	UTSW	9	104,069,847 (GRCm39)	missense	probably damaging	0.96
R8847:Dnajc13	UTSW	9	104,057,360 (GRCm39)	nonsense	probably null
R8868:Dnajc13	UTSW	9	104,042,987 (GRCm39)	missense	probably benign	0.13
R8986:Dnajc13	UTSW	9	104,057,330 (GRCm39)	missense	probably damaging	1.00
R9139:Dnajc13	UTSW	9	104,085,039 (GRCm39)	missense	probably benign	0.02
R9334:Dnajc13	UTSW	9	104,051,659 (GRCm39)	missense	probably benign	0.00
R9353:Dnajc13	UTSW	9	104,067,571 (GRCm39)	missense	probably benign	0.31
R9470:Dnajc13	UTSW	9	104,107,919 (GRCm39)	missense	probably benign	0.01
R9528:Dnajc13	UTSW	9	104,114,904 (GRCm39)	missense	probably benign
R9578:Dnajc13	UTSW	9	104,115,726 (GRCm39)	missense	probably benign	0.04
R9658:Dnajc13	UTSW	9	104,115,728 (GRCm39)	missense	probably benign	0.11
R9691:Dnajc13	UTSW	9	104,042,211 (GRCm39)	missense	probably damaging	1.00
X0017:Dnajc13	UTSW	9	104,115,677 (GRCm39)	missense	possibly damaging	0.90
X0028:Dnajc13	UTSW	9	104,042,217 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCGCACCCATACATAACTG -3'
(R):5'- CTCGGGCTTTTATCTGACCATG -3'

Sequencing Primer
(F):5'- AGACAGGGTCTTCATGGTCTTACC -3'
(R):5'- GACCATGTTTTGATCAGTTCTCAAC -3'

Posted On

2017-03-01