Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01919:Dnajc16'

180057

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc16

Ensembl Gene

ENSMUSG00000040697

Gene Name

DnaJ heat shock protein family (Hsp40) member C16

Synonyms

4732437J24Rik, 2900037O03Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.738) question?

Stock #

IGL01919

Quality Score

Status

Chromosome

Chromosomal Location

141760189-141790931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141774629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 297 (S297P)

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: S297P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: S297P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,475,523		probably null	Het
Alms1	T	C	6: 85,628,004	F2212S	possibly damaging	Het
Anpep	T	C	7: 79,825,350	I155V	possibly damaging	Het
Aoc1	G	A	6: 48,908,289	V653M	probably damaging	Het
Arl8b	T	C	6: 108,821,557		probably benign	Het
Bax	A	C	7: 45,466,128		probably null	Het
Cpne7	G	A	8: 123,125,643	E195K	probably damaging	Het
Csmd3	A	G	15: 47,675,772	I2330T	possibly damaging	Het
Farp2	A	G	1: 93,576,433	K311E	probably damaging	Het
Fhad1	A	G	4: 141,964,595	L410P	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm12185	T	C	11: 48,908,059	T536A	possibly damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Hydin	C	T	8: 110,519,174	T2173I	possibly damaging	Het
Kpnb1	A	G	11: 97,164,730	V783A	probably benign	Het
Krt1	A	G	15: 101,846,376	V509A	unknown	Het
Lrwd1	A	T	5: 136,135,875	L26*	probably null	Het
Mal2	T	A	15: 54,588,332	W50R	probably damaging	Het
Map3k21	A	T	8: 125,942,132	E819V	probably damaging	Het
Mrgprx3-ps	T	C	7: 47,310,211	T11A	probably benign	Het
Mroh2b	T	C	15: 4,923,688	F635L	probably benign	Het
Mylip	G	A	13: 45,408,702	E327K	probably damaging	Het
Nfix	T	C	8: 84,726,474	D308G	probably damaging	Het
Olfr355	G	A	2: 36,927,812	Q101*	probably null	Het
Olfr857	G	A	9: 19,713,342	V172I	probably benign	Het
Psma6	A	G	12: 55,407,469	E26G	probably damaging	Het
Rgs16	T	A	1: 153,742,058	S105T	probably damaging	Het
Slc25a23	T	A	17: 57,047,291	N372Y	possibly damaging	Het
Slc35e2	A	G	4: 155,612,730	M234V	probably benign	Het
Tbc1d8	A	G	1: 39,392,253	V346A	probably damaging	Het
Tgfb1i1	C	T	7: 128,248,482		probably benign	Het
Triml2	A	C	8: 43,190,312	T177P	probably damaging	Het
Uba6	T	C	5: 86,119,386	T959A	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	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
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
R9550:Dnajc16	UTSW	4	141767747	missense	possibly damaging	0.95

Posted On

2014-05-07