Mutagenetix > Incidental Mutation

Incidental Mutation 'R5190:Dnajc13'

478116

Institutional Source

Beutler Lab

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: 0.943) question?

Stock #

R5190 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104028481-104140129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104051724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1706 (V1706A)

Ref Sequence

ENSEMBL: ENSMUSP00000035170 (fasta)

Gene Model

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

AlphaFold

D4AFX7

Predicted Effect

probably benign
Transcript: ENSMUST00000035170
AA Change: V1706A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: V1706A

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

probably benign
Transcript: ENSMUST00000186788
AA Change: V1711A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: V1711A

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abca7	T	C	10: 79,835,427 (GRCm39)		probably null	Het
Abca8a	C	T	11: 109,980,735 (GRCm39)		probably null	Het
Ablim3	A	G	18: 61,952,982 (GRCm39)	Y361H	probably benign	Het
Acan	C	T	7: 78,748,289 (GRCm39)	T1020I	probably benign	Het
Baat	A	G	4: 49,499,652 (GRCm39)	L218P	probably damaging	Het
Bcl11b	C	A	12: 107,955,975 (GRCm39)	C58F	probably damaging	Het
Cand2	G	T	6: 115,766,474 (GRCm39)	A360S	probably damaging	Het
Cdh2	A	G	18: 16,783,372 (GRCm39)	V62A	possibly damaging	Het
Cep44	C	T	8: 56,985,831 (GRCm39)	V354I	probably benign	Het
Col3a1	G	A	1: 45,368,244 (GRCm39)	R309Q	unknown	Het
Col3a1	G	A	1: 45,383,967 (GRCm39)		probably benign	Het
Coq5	A	G	5: 115,433,839 (GRCm39)		probably null	Het
Crtac1	A	G	19: 42,322,347 (GRCm39)	I131T	possibly damaging	Het
Decr1	C	T	4: 15,924,270 (GRCm39)	V217M	probably damaging	Het
Dop1a	A	G	9: 86,369,357 (GRCm39)	I63M	probably damaging	Het
F830045P16Rik	T	C	2: 129,314,635 (GRCm39)	D214G	probably benign	Het
Fam216a	T	A	5: 122,505,584 (GRCm39)		probably null	Het
Fdxacb1	A	C	9: 50,683,387 (GRCm39)	H248P	possibly damaging	Het
Gnai1	A	T	5: 18,496,596 (GRCm39)	V109E	probably benign	Het
Helz2	A	T	2: 180,872,550 (GRCm39)		probably null	Het
Itgam	T	C	7: 127,715,489 (GRCm39)		probably null	Het
Kcnh1	A	G	1: 192,187,836 (GRCm39)	S766G	probably benign	Het
Klra1	C	A	6: 130,352,241 (GRCm39)	C167F	probably damaging	Het
Krtap9-3	T	A	11: 99,488,808 (GRCm39)	T25S	probably benign	Het
Mapk6	T	C	9: 75,295,626 (GRCm39)	Y624C	probably damaging	Het
Or10ag2	A	G	2: 87,249,187 (GRCm39)	Y263C	probably damaging	Het
Or1ad8	T	G	11: 50,898,381 (GRCm39)	I194S	probably damaging	Het
Or2y1g	T	C	11: 49,171,209 (GRCm39)	V78A	probably damaging	Het
Or52e4	C	T	7: 104,705,660 (GRCm39)	S69L	probably damaging	Het
Or9m2	T	A	2: 87,821,107 (GRCm39)	Y217*	probably null	Het
P3h2	A	G	16: 25,803,699 (GRCm39)	S356P	possibly damaging	Het
Pde12	C	T	14: 26,387,532 (GRCm39)		probably null	Het
Rln3	T	G	8: 84,769,866 (GRCm39)	K94N	probably damaging	Het
Skint5	T	C	4: 113,620,711 (GRCm39)	I668V	unknown	Het
Slitrk5	C	A	14: 111,916,852 (GRCm39)	Q159K	probably damaging	Het
Trim3	G	T	7: 105,268,716 (GRCm39)	N79K	probably damaging	Het
Tyw1	T	A	5: 130,296,756 (GRCm39)	C101*	probably null	Het
Ulk2	T	C	11: 61,672,537 (GRCm39)	T934A	probably benign	Het
Unc5b	T	C	10: 60,608,072 (GRCm39)	Y687C	probably benign	Het
Vmn1r195	C	T	13: 22,462,556 (GRCm39)	R9*	probably null	Het
Zfc3h1	T	G	10: 115,254,597 (GRCm39)	L1397R	probably damaging	Het
Zfp296	T	C	7: 19,311,332 (GRCm39)	V9A	probably benign	Het
Zfp423	T	A	8: 88,509,091 (GRCm39)	S397C	probably 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
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

Predicted Primers

PCR Primer
(F):5'- CACCTGGGTTGTATTTGATCAC -3'
(R):5'- AGGGGACAGATACTCTAATCACTTG -3'

Sequencing Primer
(F):5'- GTATTTGATCACATTTCTCAGAGCC -3'
(R):5'- CAGATACTCTAATCACTTGTACCAAG -3'

Posted On

2017-05-25