Mutagenetix > Incidental Mutation

Incidental Mutation 'R5126:Dnajc16'

393536

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

042714-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R5126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141760189-141790931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 141774509 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 337 (V337L)

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 benign
Transcript: ENSMUST00000038014
AA Change: V337L

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

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: V337L

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,996,915		probably null	Het
Ahdc1	T	A	4: 133,063,522	F691L	probably benign	Het
Ahsa2	T	A	11: 23,491,036	I202F	possibly damaging	Het
Akap10	C	T	11: 61,916,189	A72T	probably damaging	Het
Ccnb1	C	G	13: 100,781,775	Q121H	possibly damaging	Het
Cep164	A	G	9: 45,787,424		probably null	Het
Cltc	A	G	11: 86,712,669	V781A	probably damaging	Het
Dchs1	A	G	7: 105,753,517	S3273P	probably damaging	Het
E130309D02Rik	G	T	5: 143,307,946	P259T	probably benign	Het
Fstl4	T	C	11: 53,186,561	V715A	possibly damaging	Het
Grik1	C	T	16: 87,947,859	G502S	probably damaging	Het
Ifi213	A	G	1: 173,590,015	V277A	possibly damaging	Het
Jph3	T	C	8: 121,753,048	V155A	possibly damaging	Het
Katnal2	T	C	18: 77,017,598	E51G	probably benign	Het
Kcna2	T	A	3: 107,104,234	F44I	probably damaging	Het
Kcna6	T	C	6: 126,738,732	E398G	probably damaging	Het
Kif15	A	T	9: 122,975,758	H190L	probably damaging	Het
Lmbrd2	A	G	15: 9,194,701	R597G	possibly damaging	Het
Lrtm2	T	A	6: 119,317,439	M244L	probably benign	Het
Ly6c2	A	C	15: 75,111,643	S9A	possibly damaging	Het
Mbd4	T	A	6: 115,848,968		probably null	Het
Mfsd2b	A	G	12: 4,866,183	I269T	probably benign	Het
Muc6	A	T	7: 141,651,299	C218S	probably damaging	Het
Nlrc5	G	T	8: 94,474,671	R131L	possibly damaging	Het
Nlrp1b	A	T	11: 71,181,533	C495S	possibly damaging	Het
Nsf	C	A	11: 103,882,792	E299*	probably null	Het
Obscn	T	A	11: 59,077,063	E336D	probably damaging	Het
Olfr112	G	T	17: 37,563,828	T161K	probably benign	Het
Pan3	A	G	5: 147,527,198	N587S	probably benign	Het
Plch2	T	C	4: 155,000,519	D321G	probably damaging	Het
Plscr4	G	A	9: 92,488,741	D254N	probably damaging	Het
Pnmal1	A	C	7: 16,961,317	M366L	probably benign	Het
Pnpla7	G	T	2: 24,980,044	C12F	possibly damaging	Het
Pqlc2	T	C	4: 139,302,532	T63A	probably benign	Het
Ptprk	G	T	10: 28,575,644		probably null	Het
Rgs22	A	G	15: 36,040,644	V899A	probably damaging	Het
Ruvbl1	T	A	6: 88,485,901	C336S	probably benign	Het
Slc27a5	T	A	7: 12,991,320	H400L	probably damaging	Het
Slco1a4	A	T	6: 141,815,582	V435D	possibly damaging	Het
Snx14	A	T	9: 88,382,099	Y818N	probably damaging	Het
Tln2	A	G	9: 67,258,535	I2098T	probably damaging	Het
Tlr11	T	C	14: 50,360,830	L91P	probably damaging	Het
Tmem208	T	A	8: 105,334,650	F103I	probably benign	Het
Tmem8	T	C	17: 26,121,640	I666T	probably damaging	Het
Vmn2r3	C	T	3: 64,259,319	C797Y	probably damaging	Het
Vwde	T	A	6: 13,187,260	M743L	probably benign	Het
Wdcp	C	A	12: 4,850,617	R158S	probably damaging	Het
Zfp773	T	C	7: 7,136,624	T9A	unknown	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
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'- AGCTGTTTTGTTCAATTCCCAACAC -3'
(R):5'- GGATGCCAAGCTGTCATTTCC -3'

Sequencing Primer
(F):5'- GACCCACAGCAGTTGGTCTTTG -3'
(R):5'- GCCAAGCTGTCATTTCCCTTCC -3'

Posted On

2016-06-15