Mutagenetix > Incidental Mutation

Incidental Mutation 'R9578:Dnajc13'

722418

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R9578 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104028481-104140129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104115726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 28 (F28L)

Ref Sequence

ENSEMBL: ENSMUSP00000139804 (fasta)

Gene Model

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

AlphaFold

D4AFX7

Predicted Effect

probably benign
Transcript: ENSMUST00000035170
AA Change: F28L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: F28L

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: ENSMUST00000186788
AA Change: F28L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: F28L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	G	A	8: 106,436,505 (GRCm39)	G234S	probably damaging	Het
Aipl1	C	T	11: 71,928,253 (GRCm39)	G11D	probably damaging	Het
Aldh8a1	A	G	10: 21,253,281 (GRCm39)	I14M	probably damaging	Het
Arhgap11a	A	G	2: 113,670,125 (GRCm39)	S333P	possibly damaging	Het
Atp1b3	A	T	9: 96,220,754 (GRCm39)	D180E	probably benign	Het
B3gnt8	T	C	7: 25,328,089 (GRCm39)	L173P	probably damaging	Het
Cabin1	A	G	10: 75,590,185 (GRCm39)	F37S	probably damaging	Het
Carmil3	G	T	14: 55,741,293 (GRCm39)		probably null	Het
Cfi	G	T	3: 129,659,024 (GRCm39)	M327I	probably benign	Het
Cltc	G	A	11: 86,593,237 (GRCm39)	S1542F	probably benign	Het
Col7a1	G	A	9: 108,789,350 (GRCm39)	G854D	unknown	Het
Cux1	A	T	5: 136,282,919 (GRCm39)		probably null	Het
Dcdc2c	G	T	12: 28,602,234 (GRCm39)	N23K	probably damaging	Het
Dclre1a	A	G	19: 56,528,734 (GRCm39)	I807T	probably damaging	Het
Dnah14	T	C	1: 181,502,007 (GRCm39)	F1770L	probably benign	Het
Dtna	A	G	18: 23,728,612 (GRCm39)	D269G	probably damaging	Het
Dusp4	G	T	8: 35,274,822 (GRCm39)		probably benign	Het
Ece1	T	C	4: 137,641,133 (GRCm39)	S19P	probably benign	Het
Gas1	T	C	13: 60,323,905 (GRCm39)	D243G	possibly damaging	Het
Ggnbp2	A	G	11: 84,744,989 (GRCm39)	C178R	probably benign	Het
Gm12185	T	A	11: 48,806,408 (GRCm39)	N261I	probably benign	Het
Grm4	A	T	17: 27,669,183 (GRCm39)	F362I	possibly damaging	Het
Icos	T	A	1: 61,032,871 (GRCm39)	N23K	probably benign	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Krt5	T	C	15: 101,620,153 (GRCm39)	K188R	probably damaging	Het
Mindy3	C	T	2: 12,361,715 (GRCm39)		probably null	Het
Ncdn	C	T	4: 126,645,795 (GRCm39)	R38H	probably damaging	Het
Nol9	A	G	4: 152,125,706 (GRCm39)	K219R	probably benign	Het
Opalin	A	T	19: 41,060,668 (GRCm39)	S2R	probably damaging	Het
Or8g35	A	T	9: 39,381,201 (GRCm39)	S274T	probably damaging	Het
Pask	G	A	1: 93,263,390 (GRCm39)	S122L	probably benign	Het
Pcdha11	T	C	18: 37,140,176 (GRCm39)	S602P	probably damaging	Het
Pclo	A	G	5: 14,816,753 (GRCm39)	K1271R		Het
Piezo1	T	C	8: 123,224,214 (GRCm39)	H763R		Het
Pigr	A	G	1: 130,777,350 (GRCm39)	K719E	probably benign	Het
Piwil4	A	T	9: 14,638,790 (GRCm39)	V245E	probably damaging	Het
Plcb4	A	G	2: 135,829,444 (GRCm39)	M925V	probably benign	Het
Pomt1	G	A	2: 32,133,543 (GRCm39)		probably null	Het
Pou2f2	C	A	7: 24,796,569 (GRCm39)	A302S	probably benign	Het
Rapgef4	A	T	2: 72,026,052 (GRCm39)	H359L	probably damaging	Het
Rfesd	C	T	13: 76,156,299 (GRCm39)	V36I	possibly damaging	Het
Rims1	G	A	1: 22,523,823 (GRCm39)	T421M	probably damaging	Het
Serpinf2	T	A	11: 75,327,615 (GRCm39)	H150L	probably benign	Het
Syt10	A	T	15: 89,675,122 (GRCm39)	M408K	possibly damaging	Het
Tcea1	T	A	1: 4,961,021 (GRCm39)		probably null	Het
Tia1	T	C	6: 86,407,347 (GRCm39)	*387R	probably null	Het
Top3a	A	C	11: 60,647,517 (GRCm39)	V186G	probably damaging	Het
Upk3b	T	A	5: 136,067,736 (GRCm39)	S27R	unknown	Het
Usp18	A	G	6: 121,239,726 (GRCm39)	S274G	probably benign	Het
Vmn1r230	C	A	17: 21,067,163 (GRCm39)	C117*	probably null	Het
Vmn1r72	T	C	7: 11,404,347 (GRCm39)	I34V	probably benign	Het
Vmn2r74	T	C	7: 85,606,101 (GRCm39)	D415G	probably benign	Het
Zfp54	A	G	17: 21,655,186 (GRCm39)	Y560C	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
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
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'- ACATTCATCTTCAGGCTGACATTTC -3'
(R):5'- CATGTTTGTCCAGAGGTCGG -3'

Sequencing Primer
(F):5'- AGGCTGACATTTCTCTTCTGAACTG -3'
(R):5'- GATCCCCTGGAATTGGAGTTACAC -3'

Posted On

2022-08-09