Mutagenetix > Incidental Mutation

Incidental Mutation 'R0532:Dnajc16'

49225

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

038724-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.738) question?

Stock #

R0532 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

141760189-141790931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 141789009 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 16 (L16R)

Ref Sequence

ENSEMBL: ENSMUSP00000048714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030747] [ENSMUST00000038014] [ENSMUST00000097805] [ENSMUST00000153094] [ENSMUST00000153880]

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: ENSMUST00000030747

SMART Domains

Protein: ENSMUSP00000030747
Gene: ENSMUSG00000028914

Domain	Start	End	E-Value	Type
CARD	1	91	2.99e-32	SMART
CASc	190	453	4.64e-111	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000038014
AA Change: L16R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: L16R

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

probably benign
Transcript: ENSMUST00000097805

SMART Domains

Protein: ENSMUSP00000095414
Gene: ENSMUSG00000028914

Domain	Start	End	E-Value	Type
CARD	1	91	2.99e-32	SMART
CASc	190	402	6.58e-52	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138359

Predicted Effect

probably benign
Transcript: ENSMUST00000153094

SMART Domains

Protein: ENSMUSP00000121331
Gene: ENSMUSG00000028914

Domain	Start	End	E-Value	Type
CARD	1	90	3.83e-30	SMART
PDB:2AR9\|D	182	214	6e-10	PDB
Blast:CASc	189	215	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000153880
AA Change: L16R

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120783
Gene: ENSMUSG00000040697
AA Change: L16R

Domain	Start	End	E-Value	Type
DnaJ	28	85	4.5e-30	SMART

Meta Mutation Damage Score

0.7426

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (90/90)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,638,618	E339V	possibly damaging	Het
9230009I02Rik	A	T	11: 51,091,578		noncoding transcript	Het
9230112D13Rik	A	T	14: 34,512,097	I79K	unknown	Het
Adam25	C	T	8: 40,755,950	T751I	probably benign	Het
Adgrv1	C	A	13: 81,578,896	V446L	probably damaging	Het
Afap1	C	A	5: 35,968,600	A313D	possibly damaging	Het
Akap6	A	G	12: 52,887,983	T753A	probably benign	Het
Aldh16a1	G	T	7: 45,142,838	T730N	probably damaging	Het
Amfr	A	T	8: 93,999,108	M215K	probably damaging	Het
Apob	A	G	12: 8,016,188	R4386G	possibly damaging	Het
Arhgap45	A	T	10: 80,022,083	M217L	possibly damaging	Het
Baiap2l2	C	T	15: 79,284,076	E49K	possibly damaging	Het
Baz1a	C	T	12: 54,934,820	E350K	possibly damaging	Het
Bbx	A	T	16: 50,266,284	V83D	probably damaging	Het
Btaf1	T	C	19: 36,951,186		probably benign	Het
Cacna2d1	G	A	5: 16,362,273	E942K	probably benign	Het
Cad	T	C	5: 31,062,187		probably benign	Het
Ccdc96	A	G	5: 36,486,366	K572R	probably benign	Het
Cdc5l	G	A	17: 45,415,684	R321W	probably damaging	Het
Cep164	G	A	9: 45,809,826	R93*	probably null	Het
Cir1	A	G	2: 73,310,455		probably null	Het
Crocc	A	G	4: 141,030,247	S912P	possibly damaging	Het
Cwf19l2	T	C	9: 3,431,057	L463P	probably benign	Het
Cyp3a59	C	T	5: 146,096,653	Q200*	probably null	Het
Cyp4b1	G	T	4: 115,626,876	P303T	probably damaging	Het
Dcbld1	C	A	10: 52,317,077	T306K	probably benign	Het
Dgat2	A	G	7: 99,169,781	V56A	possibly damaging	Het
Dnmt1	A	C	9: 20,918,556		probably benign	Het
Dus3l	A	G	17: 56,769,308	I528V	probably damaging	Het
Egflam	T	C	15: 7,234,237	D744G	probably benign	Het
Epb41	A	C	4: 131,978,795		probably benign	Het
Eri2	C	T	7: 119,785,983	V432I	probably benign	Het
Esyt2	A	G	12: 116,357,198		probably benign	Het
Extl3	A	T	14: 65,077,673	M20K	probably benign	Het
Fam32a	A	G	8: 72,222,219	Y103C	probably damaging	Het
Fat4	T	C	3: 38,981,721	V3174A	probably benign	Het
Fbxo40	T	A	16: 36,969,622	E375D	possibly damaging	Het
Frrs1	A	G	3: 116,883,164	T182A	probably benign	Het
Fry	A	G	5: 150,433,707		probably benign	Het
Fry	T	C	5: 150,478,761		probably benign	Het
Fsip2	A	G	2: 82,977,785	I1483V	probably benign	Het
Glra3	T	A	8: 56,125,076	D389E	probably benign	Het
Gpr3	A	T	4: 133,210,485	I292N	probably damaging	Het
Grina	T	C	15: 76,248,845	M230T	probably damaging	Het
Igkv11-125	G	A	6: 67,913,619	W16*	probably null	Het
Il18r1	T	C	1: 40,474,901	V89A	probably damaging	Het
Ino80	T	C	2: 119,381,983	E1286G	possibly damaging	Het
Iqch	G	A	9: 63,508,232		probably benign	Het
Itpr2	G	T	6: 146,112,400	Q2666K	probably damaging	Het
Kcnh3	A	G	15: 99,232,963	D487G	probably damaging	Het
Kdm1a	A	G	4: 136,561,066	L402P	probably damaging	Het
Klhl10	T	G	11: 100,447,111		probably benign	Het
Krt39	T	C	11: 99,514,791	T428A	possibly damaging	Het
Mapk3	G	A	7: 126,763,386		probably benign	Het
Med13l	T	A	5: 118,759,123	S2089T	possibly damaging	Het
Mex3c	G	A	18: 73,590,053	D406N	possibly damaging	Het
Mki67	G	A	7: 135,698,164	R1714*	probably null	Het
Mmp9	C	A	2: 164,949,820	S211*	probably null	Het
Nat8f2	G	T	6: 85,867,802	Q193K	probably benign	Het
Olfr1333	T	G	4: 118,829,700	T247P	probably damaging	Het
Olfr204	T	C	16: 59,314,601	K269E	probably benign	Het
Omt2a	C	A	9: 78,312,905	A71S	possibly damaging	Het
Pdgfra	G	A	5: 75,170,773	V315I	probably benign	Het
Pdgfrb	A	G	18: 61,083,265	D1065G	probably damaging	Het
Pfas	A	T	11: 69,002,629		probably benign	Het
Pramel5	T	C	4: 144,272,740	E259G	probably benign	Het
Prpf6	A	G	2: 181,622,211	Y222C	possibly damaging	Het
Rbck1	C	A	2: 152,324,330	Q229H	probably damaging	Het
Rdm1	T	A	11: 101,635,835	C278S	probably benign	Het
Sall1	T	C	8: 89,033,191	D95G	probably benign	Het
Scn1a	T	A	2: 66,317,823	D1126V	probably damaging	Het
Scn4a	C	T	11: 106,330,400	G811D	probably benign	Het
Sh2b1	A	G	7: 126,472,272	I247T	probably benign	Het
Shprh	C	A	10: 11,162,812	T437K	possibly damaging	Het
Slc13a4	A	T	6: 35,287,404		probably null	Het
Slc16a1	C	A	3: 104,653,418	Y346*	probably null	Het
Slc25a38	G	T	9: 120,120,706	A163S	probably damaging	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Slc8b1	C	A	5: 120,519,671	D66E	probably damaging	Het
Snapin	A	G	3: 90,489,586	L106P	probably damaging	Het
Tas2r122	G	A	6: 132,711,828	S34F	possibly damaging	Het
Tiam2	A	G	17: 3,421,646	K521R	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Ttc3	T	C	16: 94,387,330		probably benign	Het
Uba1y	T	C	Y: 820,911	F31L	probably benign	Het
Ucp3	A	G	7: 100,481,979		probably benign	Het
Vcan	T	C	13: 89,703,772	E1023G	probably damaging	Het
Vmn2r45	A	G	7: 8,471,821	I736T	probably damaging	Het
Vps36	T	C	8: 22,218,245	F342L	probably benign	Het
Zc3hc1	A	G	6: 30,374,930		probably benign	Het
Zmym4	G	A	4: 126,898,401	Q596*	probably null	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
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
R9550:Dnajc16	UTSW	4	141767747	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCGGACGTTAAACTTCCGTTCTTG -3'
(R):5'- ACCCGTTCTCAGCTACTCTGAAGC -3'

Sequencing Primer
(F):5'- AAACTTCCGTTCTTGGGTTCAC -3'
(R):5'- CATTTCAGCTCTGGGAAGGAA -3'

Posted On

2013-06-12