Mutagenetix > Incidental Mutations

Incidental Mutation 'R7101:Dnajc13'

550832

Institutional Source

Beutler Lab

Gene Symbol

Dnajc13

Ensembl Gene

ENSMUSG00000032560

Gene Name

DnaJ heat shock protein family (Hsp40) member C13

Synonyms

LOC382100, D030002L11Rik, Rme8

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R7101 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104151282-104262930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104165022 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 2005 (R2005G)

Ref Sequence

ENSEMBL: ENSMUSP00000139804 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035170
AA Change: R2000G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: R2000G

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: R2005G

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: R2005G

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

probably benign
Transcript: ENSMUST00000188885

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	G	T	14: 8,511,171	S414R	possibly damaging	Het
Adam25	A	G	8: 40,755,401	D568G	probably benign	Het
Angpt1	T	C	15: 42,523,569	I130V	probably benign	Het
Ankrd11	G	T	8: 122,895,455	Q553K	probably benign	Het
Ankrd42	A	T	7: 92,631,544	H59Q	possibly damaging	Het
Ankrd52	C	T	10: 128,382,380	R318C	probably damaging	Het
Arrdc5	G	A	17: 56,294,522	T201M	probably damaging	Het
Atxn1l	A	G	8: 109,732,500	S377P	probably benign	Het
Baz2a	T	C	10: 128,121,187	F936S	possibly damaging	Het
Bicc1	T	C	10: 70,930,653	D913G	probably damaging	Het
Blnk	T	A	19: 40,972,638	M21L	probably benign	Het
Cabin1	T	C	10: 75,751,567	H132R	probably benign	Het
Ccdc154	A	G	17: 25,163,468	H88R	probably benign	Het
Clic5	G	T	17: 44,275,292	A223S	probably benign	Het
Col28a1	T	A	6: 8,014,795	Y870F	possibly damaging	Het
Dhx37	G	A	5: 125,424,942	Q497*	probably null	Het
Dnah11	T	C	12: 118,068,145	T1763A	probably benign	Het
Dopey1	G	A	9: 86,507,669	G541S	probably benign	Het
Drosha	C	T	15: 12,865,067	T627M	probably damaging	Het
Ephb3	C	T	16: 21,218,518	H455Y	possibly damaging	Het
Eri1	A	C	8: 35,482,623	C127G	probably damaging	Het
Faf1	A	T	4: 109,925,956	E548D	probably benign	Het
Gm3285	C	A	10: 77,862,360	C114*	probably null	Het
Gm9736	C	T	10: 77,751,333	V8I	unknown	Het
Gnptab	A	T	10: 88,440,312	M1154L	probably benign	Het
Grin1	G	A	2: 25,296,635	T770M	probably damaging	Het
Haus1	A	G	18: 77,766,870	S67P	possibly damaging	Het
Homer1	C	A	13: 93,356,054	Q184K	probably benign	Het
Hook2	A	G	8: 84,997,051	T401A	probably benign	Het
Il6st	G	A	13: 112,495,373		probably null	Het
Kcnh8	A	T	17: 52,905,010	D612V	probably damaging	Het
Ltbr	C	G	6: 125,312,800	E144Q	probably benign	Het
Mcf2l	G	T	8: 13,013,579	R961L	possibly damaging	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Myo1b	G	T	1: 51,758,001	Q961K	probably benign	Het
Myo1h	C	A	5: 114,342,197	T531N		Het
Ngly1	G	A	14: 16,283,445	R408Q	probably damaging	Het
Nup133	T	C	8: 123,906,227	E1055G	possibly damaging	Het
Nutm2	A	G	13: 50,472,898	K363R	probably benign	Het
Obox8	A	T	7: 14,332,827	Y97*	probably null	Het
Odc1	A	G	12: 17,547,318	D7G	probably benign	Het
Ogfod2	C	T	5: 124,114,495	T182I	unknown	Het
Olfr1216	A	T	2: 89,013,980	V28E	possibly damaging	Het
Olfr331	A	G	11: 58,502,553	M7T	probably benign	Het
Olfr875	T	C	9: 37,772,991	S111P	probably damaging	Het
Olfr910	G	A	9: 38,539,670	M258I	probably benign	Het
Parp4	A	G	14: 56,589,973	D188G	probably benign	Het
Phactr2	T	C	10: 13,247,178	E400G	probably benign	Het
Phlpp1	G	A	1: 106,172,667	V222M	possibly damaging	Het
Ppp1r16b	T	C	2: 158,761,763	V536A	probably damaging	Het
Prex2	T	C	1: 11,153,609	V719A	possibly damaging	Het
Prpf8	C	T	11: 75,490,400	A242V	possibly damaging	Het
Prr14l	A	G	5: 32,829,427	L908P	probably damaging	Het
Prrc2b	A	G	2: 32,226,993	N2146D	possibly damaging	Het
Rtkn	T	C	6: 83,150,012	V333A	possibly damaging	Het
Samd8	T	C	14: 21,775,374	Y196H	probably benign	Het
Six5	A	G	7: 19,094,859	T75A	probably benign	Het
Slc35a4	T	A	18: 36,681,538	L42H	probably damaging	Het
Svs3a	A	T	2: 164,290,013	D168V	probably damaging	Het
Themis	T	A	10: 28,761,426	Y175*	probably null	Het
Tspan33	G	T	6: 29,716,784	R180L	probably benign	Het
Ttc28	C	T	5: 111,085,092	S145F	probably damaging	Het
Txn2	G	A	15: 77,926,678	T102I	unknown	Het
Usp34	T	A	11: 23,426,183	V1908E		Het
Vmn2r101	A	G	17: 19,589,088	I160V	probably null	Het
Vmn2r104	A	T	17: 20,030,096	C638S	possibly damaging	Het
Wdfy4	C	T	14: 32,960,820	R3136Q		Het
Zan	C	A	5: 137,398,290	A4335S	unknown	Het
Zfp180	G	T	7: 24,104,533	V126F	probably benign	Het
Zfp429	T	A	13: 67,390,812	D171V	possibly damaging	Het
Zfp638	T	C	6: 83,954,726	I798T	probably benign	Het

Other mutations in Dnajc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Dnajc13	APN	9	104162780	missense	probably benign	0.15
IGL00754:Dnajc13	APN	9	104174498	nonsense	probably null
IGL00914:Dnajc13	APN	9	104212882	missense	possibly damaging	0.90
IGL01014:Dnajc13	APN	9	104203218	missense	probably damaging	1.00
IGL01077:Dnajc13	APN	9	104231021	missense	probably benign	0.11
IGL01137:Dnajc13	APN	9	104160490	missense	probably benign
IGL01305:Dnajc13	APN	9	104230637	splice site	probably null
IGL01707:Dnajc13	APN	9	104228979	missense	probably damaging	1.00
IGL01781:Dnajc13	APN	9	104162359	missense	possibly damaging	0.82
IGL01868:Dnajc13	APN	9	104162745	missense	possibly damaging	0.83
IGL01950:Dnajc13	APN	9	104190432	missense	possibly damaging	0.85
IGL02102:Dnajc13	APN	9	104229009	missense	possibly damaging	0.78
IGL02350:Dnajc13	APN	9	104162359	missense	possibly damaging	0.82
IGL02357:Dnajc13	APN	9	104162359	missense	possibly damaging	0.82
IGL02470:Dnajc13	APN	9	104175747	missense	probably benign	0.17
IGL02888:Dnajc13	APN	9	104180062	splice site	probably benign
IGL03079:Dnajc13	APN	9	104212869	nonsense	probably null
IGL03179:Dnajc13	APN	9	104167435	missense	probably benign	0.42
IGL03293:Dnajc13	APN	9	104174426	missense	possibly damaging	0.64
PIT4142001:Dnajc13	UTSW	9	104238473	missense	probably damaging	0.96
R0323:Dnajc13	UTSW	9	104156892	missense	probably damaging	1.00
R0361:Dnajc13	UTSW	9	104167059	missense	probably benign	0.18
R0480:Dnajc13	UTSW	9	104200509	missense	probably damaging	0.98
R0558:Dnajc13	UTSW	9	104201952	critical splice acceptor site	probably null
R0707:Dnajc13	UTSW	9	104172582	missense	probably benign	0.12
R0831:Dnajc13	UTSW	9	104172612	missense	probably damaging	1.00
R1234:Dnajc13	UTSW	9	104214157	missense	possibly damaging	0.64
R1433:Dnajc13	UTSW	9	104180121	missense	probably damaging	1.00
R1463:Dnajc13	UTSW	9	104178940	missense	probably damaging	1.00
R1464:Dnajc13	UTSW	9	104214167	missense	probably benign	0.10
R1464:Dnajc13	UTSW	9	104214167	missense	probably benign	0.10
R1489:Dnajc13	UTSW	9	104231035	missense	possibly damaging	0.94
R1575:Dnajc13	UTSW	9	104156838	missense	probably benign	0.29
R1750:Dnajc13	UTSW	9	104221477	missense	probably damaging	0.98
R1903:Dnajc13	UTSW	9	104228937	missense	probably damaging	0.98
R2066:Dnajc13	UTSW	9	104221441	missense	probably benign	0.01
R2206:Dnajc13	UTSW	9	104203518	missense	probably damaging	1.00
R3160:Dnajc13	UTSW	9	104219898	missense	possibly damaging	0.57
R3162:Dnajc13	UTSW	9	104219898	missense	possibly damaging	0.57
R4158:Dnajc13	UTSW	9	104190442	missense	probably damaging	0.96
R4460:Dnajc13	UTSW	9	104181063	missense	probably damaging	0.96
R4537:Dnajc13	UTSW	9	104186805	intron	probably benign
R4538:Dnajc13	UTSW	9	104186805	intron	probably benign
R4631:Dnajc13	UTSW	9	104190417	missense	probably damaging	1.00
R4662:Dnajc13	UTSW	9	104207758	missense	probably damaging	1.00
R4722:Dnajc13	UTSW	9	104213818	missense	probably benign
R4731:Dnajc13	UTSW	9	104186805	intron	probably benign
R4732:Dnajc13	UTSW	9	104186805	intron	probably benign
R4758:Dnajc13	UTSW	9	104172574	missense	probably damaging	1.00
R4801:Dnajc13	UTSW	9	104175727	missense	probably benign	0.16
R4802:Dnajc13	UTSW	9	104175727	missense	probably benign	0.16
R4928:Dnajc13	UTSW	9	104233638	missense	possibly damaging	0.93
R4944:Dnajc13	UTSW	9	104167387	unclassified	probably benign
R4979:Dnajc13	UTSW	9	104186723	missense	probably damaging	1.00
R5177:Dnajc13	UTSW	9	104230986	missense	probably benign	0.39
R5190:Dnajc13	UTSW	9	104174525	missense	probably benign	0.00
R5256:Dnajc13	UTSW	9	104203329	missense	possibly damaging	0.86
R5452:Dnajc13	UTSW	9	104192114	missense	probably benign	0.01
R5657:Dnajc13	UTSW	9	104228537	missense	probably damaging	1.00
R5752:Dnajc13	UTSW	9	104192774	splice site	probably null
R5789:Dnajc13	UTSW	9	104214188	missense	probably damaging	1.00
R5837:Dnajc13	UTSW	9	104176666	missense	possibly damaging	0.88
R5846:Dnajc13	UTSW	9	104190385	missense	probably damaging	0.99
R5982:Dnajc13	UTSW	9	104184615	missense	possibly damaging	0.77
R6189:Dnajc13	UTSW	9	104213886	missense	probably benign	0.12
R6355:Dnajc13	UTSW	9	104203270	missense	probably damaging	0.99
R6483:Dnajc13	UTSW	9	104207804	missense	probably damaging	0.96
R6613:Dnajc13	UTSW	9	104213877	missense	probably benign	0.07
R6962:Dnajc13	UTSW	9	104181009	missense	probably benign	0.02
R7048:Dnajc13	UTSW	9	104203414	critical splice donor site	probably null
R7304:Dnajc13	UTSW	9	104238514	missense	probably benign	0.00
R7353:Dnajc13	UTSW	9	104230031	missense	possibly damaging	0.89
R7366:Dnajc13	UTSW	9	104184706	missense	probably benign	0.43
R7528:Dnajc13	UTSW	9	104178965	missense	possibly damaging	0.65
R7635:Dnajc13	UTSW	9	104162367	missense	probably benign
R7673:Dnajc13	UTSW	9	104233692	missense	probably benign	0.09
X0017:Dnajc13	UTSW	9	104238478	missense	possibly damaging	0.90
X0028:Dnajc13	UTSW	9	104165018	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTACTGAACACCACGCTCAG -3'
(R):5'- GGCTAAAGGCACCATTATAAGCTAC -3'

Sequencing Primer
(F):5'- GCTCAGAGCACGCACATG -3'
(R):5'- TGGTCTTACATTTCTCATTTACAGAC -3'

Posted On

2019-05-15