Mutagenetix > Incidental Mutation

Incidental Mutation 'R7304:Dnajc13'

567173

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

045365-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R7304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104028481-104140129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104115713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 32 (T32N)

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: T32N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: T32N

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: T32N

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

SMART Domains

Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: T32N

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

Meta Mutation Damage Score

0.0660

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,247,203 (GRCm39)	S2317G	probably benign	Het
Acap2	A	C	16: 30,926,934 (GRCm39)	L502R	probably benign	Het
Amotl2	A	G	9: 102,605,549 (GRCm39)	E467G	probably damaging	Het
Apbb1ip	A	T	2: 22,743,147 (GRCm39)		probably null	Het
Armc9	C	G	1: 86,090,437 (GRCm39)	D77E	probably benign	Het
Art1	T	A	7: 101,755,531 (GRCm39)	S8T	possibly damaging	Het
Asic5	G	A	3: 81,916,872 (GRCm39)	A321T	possibly damaging	Het
Astn2	A	G	4: 66,103,612 (GRCm39)	I267T	unknown	Het
Bmp8a	T	C	4: 123,236,182 (GRCm39)	N107S	probably benign	Het
Card14	T	A	11: 119,228,573 (GRCm39)	L633Q	probably damaging	Het
Chpf	C	T	1: 75,455,698 (GRCm39)	V18M	possibly damaging	Het
Cog7	T	C	7: 121,536,362 (GRCm39)	I493V	probably benign	Het
Col3a1	A	T	1: 45,386,971 (GRCm39)	N1394I	unknown	Het
Crybg1	C	T	10: 43,873,254 (GRCm39)	D1285N	probably benign	Het
Depdc7	A	G	2: 104,553,463 (GRCm39)	V395A	possibly damaging	Het
Dido1	G	A	2: 180,329,286 (GRCm39)	L379F	probably damaging	Het
Dok2	T	A	14: 71,013,468 (GRCm39)	S133R	probably benign	Het
Ehbp1l1	C	T	19: 5,766,410 (GRCm39)	R1311H	probably damaging	Het
Gm3099	A	T	14: 15,346,488 (GRCm39)	N118I	probably damaging	Het
Gtse1	A	G	15: 85,755,748 (GRCm39)	T471A	probably benign	Het
Heg1	G	A	16: 33,581,160 (GRCm39)	A13T	possibly damaging	Het
Ifi209	A	T	1: 173,470,156 (GRCm39)	Y248F	possibly damaging	Het
Irag1	T	C	7: 110,498,931 (GRCm39)	T367A	possibly damaging	Het
Itgb3bp	C	G	4: 99,657,758 (GRCm39)	E169Q	probably damaging	Het
Kcna2	A	G	3: 107,012,066 (GRCm39)	T216A	probably benign	Het
Kcnj6	A	T	16: 94,742,042 (GRCm39)	M10K	probably benign	Het
Krt17	T	G	11: 100,148,163 (GRCm39)	Q397P	probably benign	Het
Lrtm1	T	A	14: 28,744,075 (GRCm39)	M181K	probably damaging	Het
Map3k5	A	G	10: 19,975,301 (GRCm39)	H741R	probably damaging	Het
Mier1	T	A	4: 102,996,599 (GRCm39)	Y120*	probably null	Het
Myh14	T	A	7: 44,279,415 (GRCm39)	T922S	probably benign	Het
Nfkbie	A	T	17: 45,871,067 (GRCm39)	I240F	possibly damaging	Het
Npas3	C	A	12: 54,115,824 (GRCm39)	H915Q	probably damaging	Het
Nrg2	A	T	18: 36,178,994 (GRCm39)	V314E	probably benign	Het
Or2z9	T	A	8: 72,854,190 (GRCm39)	Y195*	probably null	Het
Pds5a	T	C	5: 65,777,077 (GRCm39)	N28S	probably damaging	Het
Pira1	T	C	7: 3,740,493 (GRCm39)	T243A	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,878 (GRCm39)	N517I	possibly damaging	Het
Plekhb1	T	C	7: 100,294,874 (GRCm39)	Y99C	probably benign	Het
Plpp6	T	C	19: 28,941,617 (GRCm39)	S73P	probably benign	Het
Polb	T	C	8: 23,129,975 (GRCm39)	N199S	probably benign	Het
Ppp1r13b	T	C	12: 111,838,840 (GRCm39)	N13D	possibly damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Ptprn2	T	A	12: 117,212,164 (GRCm39)	V862D	probably damaging	Het
Rassf4	T	C	6: 116,617,278 (GRCm39)	I242M	probably damaging	Het
Rnf19a	G	A	15: 36,254,598 (GRCm39)	T320I	probably damaging	Het
Sctr	A	T	1: 119,949,970 (GRCm39)	E53V	probably damaging	Het
Srcin1	T	C	11: 97,442,519 (GRCm39)	D103G	probably benign	Het
St3gal3	T	C	4: 117,814,633 (GRCm39)	Q220R		Het
Stk40	G	A	4: 126,019,483 (GRCm39)	E86K	probably benign	Het
Tas2r104	T	A	6: 131,662,005 (GRCm39)	I235F	possibly damaging	Het
Terf2ip	T	C	8: 112,738,280 (GRCm39)	V56A	possibly damaging	Het
Thsd7b	A	G	1: 130,030,890 (GRCm39)	N1075S	probably benign	Het
Trak1	A	G	9: 121,245,278 (GRCm39)	Y51C	probably benign	Het
Trav16n	T	A	14: 53,588,859 (GRCm39)	V45E	probably benign	Het
Ttc6	T	C	12: 57,622,837 (GRCm39)	S79P	probably damaging	Het
Unc79	C	T	12: 103,029,449 (GRCm39)	T484M	probably damaging	Het
Usp49	T	C	17: 47,983,796 (GRCm39)	V267A	possibly damaging	Het
Vldlr	T	A	19: 27,216,004 (GRCm39)	D305E	possibly damaging	Het
Vmn1r226	G	T	17: 20,908,011 (GRCm39)	C81F	probably damaging	Het
Vmn1r73	T	C	7: 11,490,824 (GRCm39)	V214A	probably damaging	Het
Vmn2r5	T	C	3: 64,411,671 (GRCm39)	N299S	probably damaging	Het
Vwa3b	T	C	1: 37,203,586 (GRCm39)	L55S	probably damaging	Het
Wdr90	T	C	17: 26,070,480 (GRCm39)	D1105G	probably benign	Het
Zbtb38	A	G	9: 96,569,480 (GRCm39)	S535P	probably damaging	Het
Zfp329	T	C	7: 12,544,826 (GRCm39)	I233V	probably damaging	Het
Zfp579	T	A	7: 4,997,582 (GRCm39)	T110S	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
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
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'- ACACATTCATCTTCAGGCTGAC -3'
(R):5'- ACCATGTTTGTCCAGAGGTC -3'

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

Posted On

2019-06-26