Mutagenetix > Incidental Mutation

Incidental Mutation 'R9550:Dnajc16'

720426

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R9550 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141760189-141790931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141767747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 518 (Y518C)

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

possibly damaging
Transcript: ENSMUST00000038014
AA Change: Y518C

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: Y518C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 43,569,083	C457R	probably damaging	Het
Adamts9	A	T	6: 92,901,448	V546E	probably benign	Het
Add3	G	A	19: 53,245,090	E641K	possibly damaging	Het
Anks1b	T	A	10: 90,576,498	M1K	probably null	Het
C1s2	G	A	6: 124,628,294	Q361*	probably null	Het
Casp4	T	C	9: 5,328,465	S316P	probably damaging	Het
Cdyl	A	G	13: 35,816,164	T143A	probably benign	Het
Cep85	T	C	4: 134,131,287	T760A	probably damaging	Het
Chd2	A	G	7: 73,469,691	L1035P	probably damaging	Het
Cpne8	T	C	15: 90,569,557	I208V	probably benign	Het
Cux1	A	G	5: 136,311,533	L641P	probably damaging	Het
Dlgap1	T	A	17: 70,786,907	M741K	possibly damaging	Het
Dtnb	A	G	12: 3,718,437	N343D	possibly damaging	Het
Dusp3	A	T	11: 101,981,842	S43T	probably benign	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Espn	C	T	4: 152,131,077	R575H	probably damaging	Het
Gls	A	T	1: 52,212,214	L328*	probably null	Het
H2-T23	T	C	17: 36,031,820	D142G	probably damaging	Het
Hck	A	G	2: 153,134,731	M262V	probably benign	Het
Igkv14-126	G	T	6: 67,896,215	L13F	possibly damaging	Het
Muc2	C	T	7: 141,754,505	R913C	probably damaging	Het
Mypop	A	T	7: 18,992,320	T71S	probably damaging	Het
Nadsyn1	A	G	7: 143,799,878	I536T	probably damaging	Het
Obsl1	T	C	1: 75,498,266	E830G	possibly damaging	Het
Olfr357	T	A	2: 36,997,125	I105N	probably damaging	Het
Olfr926	T	C	9: 38,877,641	V155A	probably benign	Het
Pcdha8	A	T	18: 36,994,346	Y627F	possibly damaging	Het
Polr1b	T	A	2: 129,120,285	S742R	unknown	Het
Ppm1e	A	T	11: 87,231,093	N679K	probably benign	Het
Raly	AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG	AGCAGCAGTGGTGGAGG	2: 154,863,834		probably benign	Het
Rgs12	G	T	5: 35,039,321	G1430C	probably damaging	Het
Rhcg	T	C	7: 79,598,548	Y436C	probably damaging	Het
Ripor3	T	C	2: 167,980,887	D918G	probably benign	Het
Rlf	A	G	4: 121,146,423	F1897L	probably damaging	Het
Sin3a	T	C	9: 57,089,484	V99A	probably benign	Het
Slc22a29	A	T	19: 8,217,860	L137*	probably null	Het
Spert	A	G	14: 75,583,163	V374A	probably damaging	Het
Sufu	A	G	19: 46,397,236	Y45C	probably damaging	Het
Thsd1	C	T	8: 22,243,010		probably benign	Het
Tiam2	T	A	17: 3,509,431	L1249Q	probably damaging	Het
Toe1	C	T	4: 116,804,719	V418M	probably benign	Het
Trappc12	T	C	12: 28,711,986		probably null	Het
Triobp	A	G	15: 78,973,877	D1226G	probably damaging	Het
Zfhx4	T	C	3: 5,399,512	S1602P	probably damaging	Het
Zfp266	T	C	9: 20,499,186	K565R	probably damaging	Het
Zfp319	T	C	8: 95,328,397	T393A	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
R5116:Dnajc16	UTSW	4	141767969	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- ACCTATCAGCAAATGGTAAGAAGC -3'
(R):5'- GCGGAAGGATCCAGCATTTC -3'

Sequencing Primer
(F):5'- TATCAGCAAATGGTAAGAAGCAAAGC -3'
(R):5'- GAAGGATCCAGCATTTCTGTCTTCAG -3'

Posted On

2022-08-09