Mutagenetix > Incidental Mutation

Incidental Mutation 'R8847:Dnajc13'

674764

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

068735-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R8847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104151282-104262930 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 104180161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 1547 (G1547*)

Ref Sequence

ENSEMBL: ENSMUSP00000139804 (fasta)

Gene Model

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

AlphaFold

D4AFX7

Predicted Effect

probably null
Transcript: ENSMUST00000035170
AA Change: G1542*

SMART Domains

Protein: ENSMUSP00000035170
Gene: ENSMUSG00000032560
AA Change: G1542*

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 null
Transcript: ENSMUST00000186788
AA Change: G1547*

SMART Domains

Protein: ENSMUSP00000139804
Gene: ENSMUSG00000032560
AA Change: G1547*

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: 99.4%
20x: 97.9%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 40,753,709 (GRCm38)	R4T	probably benign	Het
Alk	T	A	17: 71,949,825 (GRCm38)	I680F	probably benign	Het
Best3	A	G	10: 116,988,667 (GRCm38)	T13A	possibly damaging	Het
Ccdc7b	A	G	8: 129,145,601 (GRCm38)	D59G		Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431 (GRCm38)		probably benign	Het
Cic	G	A	7: 25,271,206 (GRCm38)	V121M	probably damaging	Het
Clasp1	C	G	1: 118,578,975 (GRCm38)	P1280R	probably damaging	Het
Col6a5	A	T	9: 105,864,273 (GRCm38)	N2482K	possibly damaging	Het
Crebbp	A	G	16: 4,085,027 (GRCm38)	M2116T	probably benign	Het
Ddn	T	C	15: 98,806,913 (GRCm38)	E166G	possibly damaging	Het
Dennd6a	C	T	14: 26,605,931 (GRCm38)	T249I	probably benign	Het
Diaph1	A	T	18: 37,854,537 (GRCm38)	D1055E	possibly damaging	Het
Dvl1	C	T	4: 155,858,154 (GRCm38)	R626C	possibly damaging	Het
Fam126b	G	T	1: 58,556,554 (GRCm38)	P55Q	probably damaging	Het
Fam129a	A	G	1: 151,700,178 (GRCm38)	E351G	probably damaging	Het
Fer1l6	A	C	15: 58,542,163 (GRCm38)	K13Q	possibly damaging	Het
Fry	G	A	5: 150,386,007 (GRCm38)	E639K		Het
Gm6408	G	T	5: 146,483,792 (GRCm38)	V161L	probably benign	Het
Gpatch8	A	T	11: 102,481,184 (GRCm38)	N509K	unknown	Het
Ints13	T	C	6: 146,556,133 (GRCm38)	T416A	probably benign	Het
Iqcf6	A	T	9: 106,627,451 (GRCm38)	M105L	probably damaging	Het
Magi3	C	A	3: 104,015,018 (GRCm38)	R1461L	probably benign	Het
Map3k8	A	T	18: 4,333,889 (GRCm38)	L401Q		Het
Miga2	G	T	2: 30,383,978 (GRCm38)	R542L	probably damaging	Het
Mphosph9	A	T	5: 124,316,146 (GRCm38)	V96E	possibly damaging	Het
Nek5	T	C	8: 22,123,579 (GRCm38)	S28G	probably benign	Het
Notch4	A	G	17: 34,584,988 (GRCm38)		probably benign	Het
Npc1	A	G	18: 12,190,930 (GRCm38)	L1275P	probably damaging	Het
Nphp4	C	T	4: 152,506,406 (GRCm38)	R287C	probably damaging	Het
Olfr1333	T	C	4: 118,829,624 (GRCm38)	D271G	probably damaging	Het
Olfr341	G	A	2: 36,479,471 (GRCm38)	R220*	probably null	Het
Olfr406	C	T	11: 74,269,617 (GRCm38)	T76I	probably damaging	Het
Olfr53	G	C	7: 140,652,413 (GRCm38)	A145P	possibly damaging	Het
Parn	A	T	16: 13,628,406 (GRCm38)	L343*	probably null	Het
Pax5	T	A	4: 44,691,865 (GRCm38)	D127V	probably benign	Het
Peak1	C	A	9: 56,207,143 (GRCm38)	D1505Y	probably damaging	Het
Perm1	C	T	4: 156,217,611 (GRCm38)	T204I	probably benign	Het
Pid1	A	T	1: 84,115,973 (GRCm38)	S65T	unknown	Het
Pkn2	A	G	3: 142,820,640 (GRCm38)	V392A	probably benign	Het
Plekhh2	A	G	17: 84,571,051 (GRCm38)	D578G	probably benign	Het
Ppp4r4	T	A	12: 103,596,488 (GRCm38)	L572Q	probably damaging	Het
Pum3	G	A	19: 27,421,313 (GRCm38)	T279M	probably damaging	Het
Rasa2	A	G	9: 96,576,349 (GRCm38)	V266A	possibly damaging	Het
Sirpb1c	C	T	3: 15,832,420 (GRCm38)	W264*	probably null	Het
Slc35g3	A	T	11: 69,760,573 (GRCm38)	Y195*	probably null	Het
Slk	T	A	19: 47,619,193 (GRCm38)	H289Q		Het
Spef2	T	C	15: 9,668,827 (GRCm38)	S758G	probably benign	Het
Spon2	C	T	5: 33,214,497 (GRCm38)	A322T	probably benign	Het
Spred2	T	C	11: 20,001,064 (GRCm38)	L87P	probably benign	Het
Stk10	A	G	11: 32,589,427 (GRCm38)	D269G		Het
Tex48	T	A	4: 63,612,535 (GRCm38)		probably benign	Het
Themis2	T	A	4: 132,786,198 (GRCm38)	H239L	probably damaging	Het
Tle4	T	A	19: 14,516,373 (GRCm38)	R199*	probably null	Het
Tlr11	C	T	14: 50,362,725 (GRCm38)	H723Y	possibly damaging	Het
Trdj2	T	A	14: 54,136,780 (GRCm38)	S1T		Het
Vdac1	T	G	11: 52,376,403 (GRCm38)	S44A		Het
Vill	C	T	9: 119,068,446 (GRCm38)	T647I	probably damaging	Het
Vmn1r61	A	G	7: 5,610,818 (GRCm38)	C166R	probably damaging	Het
Vmn2r114	T	A	17: 23,310,012 (GRCm38)	N372I	probably damaging	Het
Vmn2r120	T	A	17: 57,509,217 (GRCm38)	M713L	probably benign	Het
Vmn2r61	T	C	7: 42,300,586 (GRCm38)	V810A	probably damaging	Het
Vmn2r65	A	T	7: 84,941,004 (GRCm38)	L568Q	probably damaging	Het
Wdr7	T	C	18: 63,739,222 (GRCm38)	V409A	probably damaging	Het
Ylpm1	C	A	12: 85,014,898 (GRCm38)	N524K	unknown	Het
Zfp958	A	C	8: 4,628,434 (GRCm38)	H153P	probably damaging	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
R7304:Dnajc13	UTSW	9	104,238,514 (GRCm38)	missense	probably benign	0.00
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
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'- AGGTCAGAAGCCGTCAACAG -3'
(R):5'- TGCGTCTTTGCACACTATGAGATG -3'

Sequencing Primer
(F):5'- GCCGTCAACAGCCACCTTC -3'
(R):5'- TTTGTACAAAGAGACAGCTAGTTGG -3'

Posted On

2021-07-15