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

LOC382100, D030002L11Rik, Rme8

MMRRC Submission

045365-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R7304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104151282-104262930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104238514 bp (GRCm38)

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
1110008L16Rik	A	G	12: 55,304,644 (GRCm38)	D246G	probably damaging	Het
Abca13	A	G	11: 9,297,203 (GRCm38)	S2317G	probably benign	Het
Acap2	A	C	16: 31,108,116 (GRCm38)	L502R	probably benign	Het
Amotl2	A	G	9: 102,728,350 (GRCm38)	E467G	probably damaging	Het
Apbb1ip	A	T	2: 22,853,135 (GRCm38)		probably null	Het
Armc9	C	G	1: 86,162,715 (GRCm38)	D77E	probably benign	Het
Art1	T	A	7: 102,106,324 (GRCm38)	S8T	possibly damaging	Het
Asic5	G	A	3: 82,009,565 (GRCm38)	A321T	possibly damaging	Het
Astn2	A	G	4: 66,185,375 (GRCm38)	I267T	unknown	Het
Bmp8a	T	C	4: 123,342,389 (GRCm38)	N107S	probably benign	Het
Card14	T	A	11: 119,337,747 (GRCm38)	L633Q	probably damaging	Het
Chpf	C	T	1: 75,479,054 (GRCm38)	V18M	possibly damaging	Het
Cog7	T	C	7: 121,937,139 (GRCm38)	I493V	probably benign	Het
Col3a1	A	T	1: 45,347,811 (GRCm38)	N1394I	unknown	Het
Crybg1	C	T	10: 43,997,258 (GRCm38)	D1285N	probably benign	Het
Depdc7	A	G	2: 104,723,118 (GRCm38)	V395A	possibly damaging	Het
Dido1	G	A	2: 180,687,493 (GRCm38)	L379F	probably damaging	Het
Dok2	T	A	14: 70,776,028 (GRCm38)	S133R	probably benign	Het
Ehbp1l1	C	T	19: 5,716,382 (GRCm38)	R1311H	probably damaging	Het
Gm15922	T	C	7: 3,737,494 (GRCm38)	T243A	probably damaging	Het
Gm3099	A	T	14: 4,000,520 (GRCm38)	N118I	probably damaging	Het
Gtse1	A	G	15: 85,871,547 (GRCm38)	T471A	probably benign	Het
Heg1	G	A	16: 33,760,790 (GRCm38)	A13T	possibly damaging	Het
Ifi209	A	T	1: 173,642,590 (GRCm38)	Y248F	possibly damaging	Het
Itgb3bp	C	G	4: 99,769,521 (GRCm38)	E169Q	probably damaging	Het
Kcna2	A	G	3: 107,104,750 (GRCm38)	T216A	probably benign	Het
Kcnj6	A	T	16: 94,941,183 (GRCm38)	M10K	probably benign	Het
Krt17	T	G	11: 100,257,337 (GRCm38)	Q397P	probably benign	Het
Lrtm1	T	A	14: 29,022,118 (GRCm38)	M181K	probably damaging	Het
Map3k5	A	G	10: 20,099,555 (GRCm38)	H741R	probably damaging	Het
Mier1	T	A	4: 103,139,402 (GRCm38)	Y120*	probably null	Het
Mrvi1	T	C	7: 110,899,724 (GRCm38)	T367A	possibly damaging	Het
Myh14	T	A	7: 44,629,991 (GRCm38)	T922S	probably benign	Het
Nfkbie	A	T	17: 45,560,141 (GRCm38)	I240F	possibly damaging	Het
Npas3	C	A	12: 54,069,041 (GRCm38)	H915Q	probably damaging	Het
Nrg2	A	T	18: 36,045,941 (GRCm38)	V314E	probably benign	Het
Olfr373	T	A	8: 72,100,346 (GRCm38)	Y195*	probably null	Het
Pds5a	T	C	5: 65,619,734 (GRCm38)	N28S	probably damaging	Het
Pkhd1l1	A	T	15: 44,498,482 (GRCm38)	N517I	possibly damaging	Het
Plekhb1	T	C	7: 100,645,667 (GRCm38)	Y99C	probably benign	Het
Plpp6	T	C	19: 28,964,217 (GRCm38)	S73P	probably benign	Het
Polb	T	C	8: 22,639,959 (GRCm38)	N199S	probably benign	Het
Ppp1r13b	T	C	12: 111,872,406 (GRCm38)	N13D	possibly damaging	Het
Ptprn2	T	A	12: 117,248,544 (GRCm38)	V862D	probably damaging	Het
Rassf4	T	C	6: 116,640,317 (GRCm38)	I242M	probably damaging	Het
Rnf19a	G	A	15: 36,254,452 (GRCm38)	T320I	probably damaging	Het
Sctr	A	T	1: 120,022,240 (GRCm38)	E53V	probably damaging	Het
Srcin1	T	C	11: 97,551,693 (GRCm38)	D103G	probably benign	Het
St3gal3	T	C	4: 117,957,436 (GRCm38)	Q220R		Het
Stk40	G	A	4: 126,125,690 (GRCm38)	E86K	probably benign	Het
Tas2r104	T	A	6: 131,685,042 (GRCm38)	I235F	possibly damaging	Het
Terf2ip	T	C	8: 112,011,648 (GRCm38)	V56A	possibly damaging	Het
Thsd7b	A	G	1: 130,103,153 (GRCm38)	N1075S	probably benign	Het
Trak1	A	G	9: 121,416,212 (GRCm38)	Y51C	probably benign	Het
Trav16n	T	A	14: 53,351,402 (GRCm38)	V45E	probably benign	Het
Ttc6	T	C	12: 57,576,051 (GRCm38)	S79P	probably damaging	Het
Unc79	C	T	12: 103,063,190 (GRCm38)	T484M	probably damaging	Het
Usp49	T	C	17: 47,672,871 (GRCm38)	V267A	possibly damaging	Het
Vldlr	T	A	19: 27,238,604 (GRCm38)	D305E	possibly damaging	Het
Vmn1r226	G	T	17: 20,687,749 (GRCm38)	C81F	probably damaging	Het
Vmn1r73	T	C	7: 11,756,897 (GRCm38)	V214A	probably damaging	Het
Vmn2r5	T	C	3: 64,504,250 (GRCm38)	N299S	probably damaging	Het
Vwa3b	T	C	1: 37,164,505 (GRCm38)	L55S	probably damaging	Het
Wdr90	T	C	17: 25,851,506 (GRCm38)	D1105G	probably benign	Het
Zbtb38	A	G	9: 96,687,427 (GRCm38)	S535P	probably damaging	Het
Zfp329	T	C	7: 12,810,899 (GRCm38)	I233V	probably damaging	Het
Zfp579	T	A	7: 4,994,583 (GRCm38)	T110S	probably benign	Het

Other mutations in Dnajc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Dnajc13	APN	9	104,162,780 (GRCm38)	missense	probably benign	0.15
IGL00754:Dnajc13	APN	9	104,174,498 (GRCm38)	nonsense	probably null
IGL00914:Dnajc13	APN	9	104,212,882 (GRCm38)	missense	possibly damaging	0.90
IGL01014:Dnajc13	APN	9	104,203,218 (GRCm38)	missense	probably damaging	1.00
IGL01077:Dnajc13	APN	9	104,231,021 (GRCm38)	missense	probably benign	0.11
IGL01137:Dnajc13	APN	9	104,160,490 (GRCm38)	missense	probably benign
IGL01305:Dnajc13	APN	9	104,230,637 (GRCm38)	splice site	probably null
IGL01707:Dnajc13	APN	9	104,228,979 (GRCm38)	missense	probably damaging	1.00
IGL01781:Dnajc13	APN	9	104,162,359 (GRCm38)	missense	possibly damaging	0.82
IGL01868:Dnajc13	APN	9	104,162,745 (GRCm38)	missense	possibly damaging	0.83
IGL01950:Dnajc13	APN	9	104,190,432 (GRCm38)	missense	possibly damaging	0.85
IGL02102:Dnajc13	APN	9	104,229,009 (GRCm38)	missense	possibly damaging	0.78
IGL02350:Dnajc13	APN	9	104,162,359 (GRCm38)	missense	possibly damaging	0.82
IGL02357:Dnajc13	APN	9	104,162,359 (GRCm38)	missense	possibly damaging	0.82
IGL02470:Dnajc13	APN	9	104,175,747 (GRCm38)	missense	probably benign	0.17
IGL02888:Dnajc13	APN	9	104,180,062 (GRCm38)	splice site	probably benign
IGL03079:Dnajc13	APN	9	104,212,869 (GRCm38)	nonsense	probably null
IGL03179:Dnajc13	APN	9	104,167,435 (GRCm38)	missense	probably benign	0.42
IGL03293:Dnajc13	APN	9	104,174,426 (GRCm38)	missense	possibly damaging	0.64
impressario	UTSW	9	104,213,886 (GRCm38)	missense	probably benign	0.12
Kaiser	UTSW	9	104,214,188 (GRCm38)	missense	probably damaging	1.00
BB008:Dnajc13	UTSW	9	104,218,564 (GRCm38)	missense	probably benign	0.02
BB018:Dnajc13	UTSW	9	104,218,564 (GRCm38)	missense	probably benign	0.02
PIT4142001:Dnajc13	UTSW	9	104,238,473 (GRCm38)	missense	probably damaging	0.96
R0323:Dnajc13	UTSW	9	104,156,892 (GRCm38)	missense	probably damaging	1.00
R0361:Dnajc13	UTSW	9	104,167,059 (GRCm38)	missense	probably benign	0.18
R0480:Dnajc13	UTSW	9	104,200,509 (GRCm38)	missense	probably damaging	0.98
R0558:Dnajc13	UTSW	9	104,201,952 (GRCm38)	critical splice acceptor site	probably null
R0707:Dnajc13	UTSW	9	104,172,582 (GRCm38)	missense	probably benign	0.12
R0831:Dnajc13	UTSW	9	104,172,612 (GRCm38)	missense	probably damaging	1.00
R1234:Dnajc13	UTSW	9	104,214,157 (GRCm38)	missense	possibly damaging	0.64
R1433:Dnajc13	UTSW	9	104,180,121 (GRCm38)	missense	probably damaging	1.00
R1463:Dnajc13	UTSW	9	104,178,940 (GRCm38)	missense	probably damaging	1.00
R1464:Dnajc13	UTSW	9	104,214,167 (GRCm38)	missense	probably benign	0.10
R1464:Dnajc13	UTSW	9	104,214,167 (GRCm38)	missense	probably benign	0.10
R1489:Dnajc13	UTSW	9	104,231,035 (GRCm38)	missense	possibly damaging	0.94
R1575:Dnajc13	UTSW	9	104,156,838 (GRCm38)	missense	probably benign	0.29
R1750:Dnajc13	UTSW	9	104,221,477 (GRCm38)	missense	probably damaging	0.98
R1903:Dnajc13	UTSW	9	104,228,937 (GRCm38)	missense	probably damaging	0.98
R2066:Dnajc13	UTSW	9	104,221,441 (GRCm38)	missense	probably benign	0.01
R2206:Dnajc13	UTSW	9	104,203,518 (GRCm38)	missense	probably damaging	1.00
R3160:Dnajc13	UTSW	9	104,219,898 (GRCm38)	missense	possibly damaging	0.57
R3162:Dnajc13	UTSW	9	104,219,898 (GRCm38)	missense	possibly damaging	0.57
R4158:Dnajc13	UTSW	9	104,190,442 (GRCm38)	missense	probably damaging	0.96
R4460:Dnajc13	UTSW	9	104,181,063 (GRCm38)	missense	probably damaging	0.96
R4537:Dnajc13	UTSW	9	104,186,805 (GRCm38)	intron	probably benign
R4538:Dnajc13	UTSW	9	104,186,805 (GRCm38)	intron	probably benign
R4631:Dnajc13	UTSW	9	104,190,417 (GRCm38)	missense	probably damaging	1.00
R4662:Dnajc13	UTSW	9	104,207,758 (GRCm38)	missense	probably damaging	1.00
R4722:Dnajc13	UTSW	9	104,213,818 (GRCm38)	missense	probably benign
R4731:Dnajc13	UTSW	9	104,186,805 (GRCm38)	intron	probably benign
R4732:Dnajc13	UTSW	9	104,186,805 (GRCm38)	intron	probably benign
R4758:Dnajc13	UTSW	9	104,172,574 (GRCm38)	missense	probably damaging	1.00
R4801:Dnajc13	UTSW	9	104,175,727 (GRCm38)	missense	probably benign	0.16
R4802:Dnajc13	UTSW	9	104,175,727 (GRCm38)	missense	probably benign	0.16
R4928:Dnajc13	UTSW	9	104,233,638 (GRCm38)	missense	possibly damaging	0.93
R4944:Dnajc13	UTSW	9	104,167,387 (GRCm38)	unclassified	probably benign
R4979:Dnajc13	UTSW	9	104,186,723 (GRCm38)	missense	probably damaging	1.00
R5177:Dnajc13	UTSW	9	104,230,986 (GRCm38)	missense	probably benign	0.39
R5190:Dnajc13	UTSW	9	104,174,525 (GRCm38)	missense	probably benign	0.00
R5256:Dnajc13	UTSW	9	104,203,329 (GRCm38)	missense	possibly damaging	0.86
R5452:Dnajc13	UTSW	9	104,192,114 (GRCm38)	missense	probably benign	0.01
R5657:Dnajc13	UTSW	9	104,228,537 (GRCm38)	missense	probably damaging	1.00
R5752:Dnajc13	UTSW	9	104,192,774 (GRCm38)	splice site	probably null
R5789:Dnajc13	UTSW	9	104,214,188 (GRCm38)	missense	probably damaging	1.00
R5837:Dnajc13	UTSW	9	104,176,666 (GRCm38)	missense	possibly damaging	0.88
R5846:Dnajc13	UTSW	9	104,190,385 (GRCm38)	missense	probably damaging	0.99
R5982:Dnajc13	UTSW	9	104,184,615 (GRCm38)	missense	possibly damaging	0.77
R6189:Dnajc13	UTSW	9	104,213,886 (GRCm38)	missense	probably benign	0.12
R6355:Dnajc13	UTSW	9	104,203,270 (GRCm38)	missense	probably damaging	0.99
R6483:Dnajc13	UTSW	9	104,207,804 (GRCm38)	missense	probably damaging	0.96
R6613:Dnajc13	UTSW	9	104,213,877 (GRCm38)	missense	probably benign	0.07
R6962:Dnajc13	UTSW	9	104,181,009 (GRCm38)	missense	probably benign	0.02
R7048:Dnajc13	UTSW	9	104,203,414 (GRCm38)	critical splice donor site	probably null
R7101:Dnajc13	UTSW	9	104,165,022 (GRCm38)	missense	possibly damaging	0.92
R7353:Dnajc13	UTSW	9	104,230,031 (GRCm38)	missense	possibly damaging	0.89
R7366:Dnajc13	UTSW	9	104,184,706 (GRCm38)	missense	probably benign	0.43
R7528:Dnajc13	UTSW	9	104,178,965 (GRCm38)	missense	possibly damaging	0.65
R7635:Dnajc13	UTSW	9	104,162,367 (GRCm38)	missense	probably benign
R7673:Dnajc13	UTSW	9	104,233,692 (GRCm38)	missense	probably benign	0.09
R7856:Dnajc13	UTSW	9	104,167,485 (GRCm38)	missense	possibly damaging	0.83
R7931:Dnajc13	UTSW	9	104,218,564 (GRCm38)	missense	probably benign	0.02
R7995:Dnajc13	UTSW	9	104,174,363 (GRCm38)	missense	probably damaging	1.00
R8319:Dnajc13	UTSW	9	104,190,391 (GRCm38)	missense	probably benign	0.00
R8354:Dnajc13	UTSW	9	104,217,728 (GRCm38)	missense	probably damaging	1.00
R8680:Dnajc13	UTSW	9	104,180,139 (GRCm38)	missense	probably benign
R8686:Dnajc13	UTSW	9	104,170,805 (GRCm38)	missense	probably benign	0.00
R8707:Dnajc13	UTSW	9	104,192,648 (GRCm38)	missense	probably damaging	0.96
R8847:Dnajc13	UTSW	9	104,180,161 (GRCm38)	nonsense	probably null
R8868:Dnajc13	UTSW	9	104,165,788 (GRCm38)	missense	probably benign	0.13
R8986:Dnajc13	UTSW	9	104,180,131 (GRCm38)	missense	probably damaging	1.00
R9139:Dnajc13	UTSW	9	104,207,840 (GRCm38)	missense	probably benign	0.02
R9334:Dnajc13	UTSW	9	104,174,460 (GRCm38)	missense	probably benign	0.00
R9353:Dnajc13	UTSW	9	104,190,372 (GRCm38)	missense	probably benign	0.31
R9470:Dnajc13	UTSW	9	104,230,720 (GRCm38)	missense	probably benign	0.01
R9528:Dnajc13	UTSW	9	104,237,705 (GRCm38)	missense	probably benign
R9578:Dnajc13	UTSW	9	104,238,527 (GRCm38)	missense	probably benign	0.04
R9658:Dnajc13	UTSW	9	104,238,529 (GRCm38)	missense	probably benign	0.11
R9691:Dnajc13	UTSW	9	104,165,012 (GRCm38)	missense	probably damaging	1.00
X0017:Dnajc13	UTSW	9	104,238,478 (GRCm38)	missense	possibly damaging	0.90
X0028:Dnajc13	UTSW	9	104,165,018 (GRCm38)	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