Mutagenetix > Incidental Mutation

Incidental Mutation 'R5116:Dnajc16'

394186

Institutional Source

Beutler Lab

Gene Symbol

Dnajc16

Ensembl Gene

ENSMUSG00000040697

Gene Name

DnaJ heat shock protein family (Hsp40) member C16

Synonyms

4732437J24Rik, 2900037O03Rik

MMRRC Submission

042704-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R5116 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141760189-141790931 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 141767969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 479 (Y479*)

Ref Sequence

ENSEMBL: ENSMUSP00000048714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038014]

AlphaFold

Q80TN4

PDB Structure

Solution structure of the J domain of the pseudo DnaJ protein, mouse hypothetical mKIAA0962 [SOLUTION NMR]

Predicted Effect

probably null
Transcript: ENSMUST00000038014
AA Change: Y479*

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: Y479*

Domain	Start	End	E-Value	Type
DnaJ	28	85	4.5e-30	SMART
Pfam:Thioredoxin	142	243	4.4e-8	PFAM
low complexity region	537	549	N/A	INTRINSIC
low complexity region	730	750	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138654

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.5%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,078,867	H429R	probably damaging	Het
Adam39	G	T	8: 40,825,001	C143F	probably damaging	Het
Adamts19	T	C	18: 58,902,994	V417A	possibly damaging	Het
Adcy10	C	A	1: 165,519,500	A362E	probably damaging	Het
Akap6	A	G	12: 53,141,515	E1904G	probably benign	Het
Aldh18a1	A	G	19: 40,553,505	M89T	probably benign	Het
Alyref	G	T	11: 120,597,728	F91L	probably benign	Het
Capn3	G	T	2: 120,485,292	M248I	probably benign	Het
Catsper4	A	T	4: 134,226,680	I56N	probably damaging	Het
Ccdc151	A	G	9: 21,990,128	*595Q	probably null	Het
Cckbr	T	A	7: 105,433,655	I75N	probably damaging	Het
Ccr8	T	C	9: 120,094,029	I70T	probably benign	Het
Cdh24	T	C	14: 54,636,413	D428G	probably benign	Het
Cdk5rap2	G	T	4: 70,307,238	Q557K	possibly damaging	Het
Clip1	C	T	5: 123,630,707	A610T	probably benign	Het
Fpr-rs3	A	G	17: 20,624,300	V193A	probably benign	Het
Gm29125	T	C	1: 80,383,973		noncoding transcript	Het
Hist1h1e	A	G	13: 23,622,287	Y71H	probably damaging	Het
Ifi208	A	G	1: 173,677,983		probably benign	Het
Immp1l	G	A	2: 105,965,295	R155H	probably benign	Het
Itgad	C	A	7: 128,203,893	T7K	probably damaging	Het
Itgb3	T	C	11: 104,641,077	V370A	probably benign	Het
Jak1	A	G	4: 101,155,113	I1053T	probably benign	Het
Kif21b	A	G	1: 136,152,783	R572G	probably damaging	Het
Lama2	A	T	10: 27,118,560	D1784E	probably benign	Het
Ltbp2	A	T	12: 84,809,737	V651D	probably damaging	Het
Mrpl47	A	G	3: 32,733,601	L100S	probably damaging	Het
Mx1	T	G	16: 97,457,479	N6T	possibly damaging	Het
Nde1	T	A	16: 14,183,487	M133K	probably benign	Het
Nlrc5	T	C	8: 94,481,860	L778P	probably damaging	Het
Olfr1156	G	A	2: 87,949,529	R235C	probably benign	Het
Olfr603	G	A	7: 103,383,864	T46I	probably benign	Het
Olfr803	A	G	10: 129,691,397	S215P	probably damaging	Het
Olfr850	A	G	9: 19,477,798	S151P	possibly damaging	Het
Olfr885	T	C	9: 38,061,338	V6A	probably benign	Het
Otog	T	C	7: 46,273,767	V1022A	probably benign	Het
Pcdhac1	G	A	18: 37,091,447	V438M	probably damaging	Het
Pcsk5	G	A	19: 17,463,434	S1264F	possibly damaging	Het
Pfas	T	C	11: 68,990,990		probably benign	Het
Pigr	T	A	1: 130,849,031	F648I	probably benign	Het
Pla2r1	A	C	2: 60,448,906	Y777D	probably damaging	Het
Pnpla7	G	T	2: 25,021,970	G716V	probably damaging	Het
Rab11fip5	C	T	6: 85,348,807	E206K	probably damaging	Het
S100a10	A	G	3: 93,560,940		probably null	Het
Slc35f1	T	C	10: 53,021,895	I134T	probably benign	Het
Smarcd1	C	T	15: 99,702,488	A56V	probably benign	Het
Snrk	A	G	9: 122,160,330	T247A	probably benign	Het
Srgap1	A	G	10: 121,792,379	L896P	possibly damaging	Het
Tmem19	A	T	10: 115,343,746	F167I	probably benign	Het
Tmprss11f	T	C	5: 86,539,696	S118G	probably benign	Het
Tnc	A	G	4: 63,967,215		probably null	Het
Trem3	T	C	17: 48,249,552	L17P	probably benign	Het
Upp2	A	G	2: 58,771,542	Y67C	probably damaging	Het
Zfp276	A	G	8: 123,264,977		probably benign	Het
Zfp932	T	A	5: 110,009,376	D280E	probably benign	Het

Other mutations in Dnajc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Dnajc16	APN	4	141763563	splice site	probably null
IGL00840:Dnajc16	APN	4	141768003	missense	probably damaging	1.00
IGL01503:Dnajc16	APN	4	141763697	missense	possibly damaging	0.65
IGL01919:Dnajc16	APN	4	141774629	missense	probably benign	0.06
IGL02065:Dnajc16	APN	4	141776933	missense	probably damaging	1.00
IGL02544:Dnajc16	APN	4	141764647	missense	probably damaging	1.00
IGL03028:Dnajc16	APN	4	141767732	nonsense	probably null
PIT4418001:Dnajc16	UTSW	4	141770949	missense	probably damaging	0.99
PIT4585001:Dnajc16	UTSW	4	141764685	missense	probably damaging	1.00
R0071:Dnajc16	UTSW	4	141768007	missense	probably benign
R0415:Dnajc16	UTSW	4	141789048	nonsense	probably null
R0532:Dnajc16	UTSW	4	141789009	missense	probably damaging	1.00
R1418:Dnajc16	UTSW	4	141767741	nonsense	probably null
R2959:Dnajc16	UTSW	4	141766545	nonsense	probably null
R3025:Dnajc16	UTSW	4	141774611	missense	probably benign
R3796:Dnajc16	UTSW	4	141767737	missense	probably benign
R3854:Dnajc16	UTSW	4	141763653	nonsense	probably null
R3856:Dnajc16	UTSW	4	141763653	nonsense	probably null
R4661:Dnajc16	UTSW	4	141763548	missense	probably damaging	1.00
R4841:Dnajc16	UTSW	4	141774625	missense	probably damaging	1.00
R4842:Dnajc16	UTSW	4	141774625	missense	probably damaging	1.00
R5126:Dnajc16	UTSW	4	141774509	missense	probably benign	0.01
R5140:Dnajc16	UTSW	4	141764683	missense	possibly damaging	0.85
R5275:Dnajc16	UTSW	4	141767928	missense	possibly damaging	0.82
R5295:Dnajc16	UTSW	4	141767928	missense	possibly damaging	0.82
R5891:Dnajc16	UTSW	4	141775392	missense	probably benign
R6888:Dnajc16	UTSW	4	141776992	missense	probably benign	0.24
R7062:Dnajc16	UTSW	4	141766690	missense	probably damaging	1.00
R7441:Dnajc16	UTSW	4	141763813	missense	probably damaging	1.00
R7684:Dnajc16	UTSW	4	141774568	missense	probably benign	0.02
R8843:Dnajc16	UTSW	4	141764691	missense	possibly damaging	0.87
R8924:Dnajc16	UTSW	4	141766707	nonsense	probably null
R9005:Dnajc16	UTSW	4	141764634	missense	possibly damaging	0.95
R9053:Dnajc16	UTSW	4	141783060	missense	probably benign	0.28
R9550:Dnajc16	UTSW	4	141767747	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CAGCGTCCTACCAGTTACTG -3'
(R):5'- GGCTCAAGCTCTTGATCCTC -3'

Sequencing Primer
(F):5'- AGCGTCCTACCAGTTACTGTGAAG -3'
(R):5'- AAGCTCTTGATCCTCTTAACCTCAG -3'

Posted On

2016-06-15