Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03293:Dnajc13'

415967

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

Rme8, D030002L11Rik, LOC382100

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

IGL03293

Quality Score

Status

Chromosome

Chromosomal Location

104028481-104140129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104051625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1744 (S1744L)

Ref Sequence

ENSEMBL: ENSMUSP00000139804 (fasta)

Gene Model

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

AlphaFold

D4AFX7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035170
AA Change: S1739L

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: S1739L

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

noncoding transcript
Transcript: ENSMUST00000185927

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186788
AA Change: S1744L

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: S1744L

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,615,375 (GRCm39)		probably null	Het
Akr1c14	C	T	13: 4,129,130 (GRCm39)	R45*	probably null	Het
Ccdc62	T	A	5: 124,089,288 (GRCm39)	L309I	possibly damaging	Het
Ccdc66	T	A	14: 27,212,628 (GRCm39)	N565I	probably damaging	Het
Cerkl	G	T	2: 79,172,719 (GRCm39)	A318E	probably damaging	Het
Clec4n	A	T	6: 123,209,105 (GRCm39)	T57S	probably benign	Het
Cluh	A	G	11: 74,556,578 (GRCm39)	E921G	probably benign	Het
Cnbd1	C	T	4: 18,860,565 (GRCm39)	E394K	possibly damaging	Het
Dmgdh	G	T	13: 93,843,209 (GRCm39)	M348I	probably benign	Het
Dspp	A	T	5: 104,325,427 (GRCm39)	S597C	unknown	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Eepd1	A	G	9: 25,514,708 (GRCm39)	H505R	possibly damaging	Het
Entr1	A	T	2: 26,277,688 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,303 (GRCm39)	T174A	possibly damaging	Het
Gnb1	T	C	4: 155,625,004 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,059,448 (GRCm39)	S800P	probably benign	Het
Gsr	T	C	8: 34,185,024 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,804,878 (GRCm39)	K2302R	probably benign	Het
Hipk1	C	A	3: 103,684,575 (GRCm39)	A347S	possibly damaging	Het
Iqgap2	T	C	13: 95,867,942 (GRCm39)	N222S	probably damaging	Het
Marco	T	A	1: 120,422,524 (GRCm39)	M46L	probably benign	Het
Morc2b	A	T	17: 33,357,337 (GRCm39)	V145D	probably damaging	Het
Mprip	C	A	11: 59,586,989 (GRCm39)	P54Q	probably damaging	Het
Ndufv2	A	T	17: 66,390,444 (GRCm39)	C175*	probably null	Het
Or13c25	A	G	4: 52,910,835 (GRCm39)	*320Q	probably null	Het
Or4p20	T	C	2: 88,253,571 (GRCm39)	D266G	probably damaging	Het
Orc3	A	C	4: 34,595,210 (GRCm39)	I195S	probably damaging	Het
Otos	C	A	1: 92,572,135 (GRCm39)	E64*	probably null	Het
Plxna2	T	C	1: 194,487,253 (GRCm39)	S1603P	probably damaging	Het
Rlf	A	T	4: 121,005,527 (GRCm39)	I1151N	probably benign	Het
Scaper	A	G	9: 55,782,107 (GRCm39)	V283A	probably benign	Het
Slc25a43	A	G	X: 36,039,252 (GRCm39)	T270A	probably benign	Het
Slc35a5	A	G	16: 44,964,144 (GRCm39)	V78A	probably damaging	Het
Smurf1	A	T	5: 144,818,609 (GRCm39)	D636E	probably benign	Het
Tchhl1	A	T	3: 93,377,582 (GRCm39)	E95D	probably damaging	Het
Tcp10a	A	G	17: 7,593,891 (GRCm39)	E72G	possibly damaging	Het
Tmem232	A	G	17: 65,757,369 (GRCm39)	S275P	probably damaging	Het
Ugt1a5	T	C	1: 88,094,540 (GRCm39)	F256S	probably damaging	Het
Ulbp3	A	G	10: 3,075,699 (GRCm39)		noncoding transcript	Het
Vmn2r5	A	G	3: 64,398,747 (GRCm39)	V744A	probably benign	Het
Vmn2r53	A	T	7: 12,332,349 (GRCm39)	S433R	probably benign	Het
Vmn2r9	A	T	5: 108,995,997 (GRCm39)	I217N	probably damaging	Het
Wdr83	G	T	8: 85,807,216 (GRCm39)	A10E	probably benign	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
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
R5752:Dnajc13	UTSW	9	104,069,973 (GRCm39)	splice site	probably null
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

Posted On

2016-08-02