Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00495:Dnajc16'

6538

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: 0.714) question?

Stock #

IGL00495

Quality Score

Status

Chromosome

Chromosomal Location

141760189-141790931 bp(-) (GRCm38)

Type of Mutation

splice site (4300 bp from exon)

DNA Base Change (assembly)

A to T at 141763563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038014] [ENSMUST00000038161]

AlphaFold

Q80TN4

Predicted Effect

probably benign
Transcript: ENSMUST00000038014
AA Change: S759T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: S759T

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 null
Transcript: ENSMUST00000038161

SMART Domains

Protein: ENSMUSP00000040853
Gene: ENSMUSG00000040706

Domain	Start	End	E-Value	Type
low complexity region	44	62	N/A	INTRINSIC
Pfam:Arginase	77	351	9.8e-85	PFAM

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
Ankk1	T	C	9: 49,415,843	T679A	probably benign	Het
Bhlhe40	T	A	6: 108,661,178	M33K	probably benign	Het
Cacna2d1	T	C	5: 16,370,609	S1059P	probably benign	Het
Cdkn1a	C	A	17: 29,098,520	A38E	possibly damaging	Het
Chrm2	A	T	6: 36,523,420	I71F	possibly damaging	Het
Cntnap5c	A	G	17: 58,162,277	Q618R	probably benign	Het
Cog5	T	A	12: 31,837,309	N476K	probably benign	Het
Dhx36	G	A	3: 62,470,558		probably benign	Het
Dnajb8	G	T	6: 88,222,854	R124L	possibly damaging	Het
Dzip1	T	C	14: 118,883,394	D717G	probably benign	Het
Eps15	G	T	4: 109,309,149	V80L	probably damaging	Het
Fmn1	G	A	2: 113,444,467		probably benign	Het
Gm12185	A	G	11: 48,907,861	S602P	probably damaging	Het
Gm28539	T	G	16: 18,954,780		probably benign	Het
Grm3	T	C	5: 9,512,290	N520S	probably benign	Het
Hivep2	A	G	10: 14,142,244	N1825S	probably damaging	Het
Igfbp2	A	G	1: 72,849,128	H143R	probably benign	Het
Igsf8	T	G	1: 172,317,544	V146G	possibly damaging	Het
Kif13b	T	G	14: 64,714,113	S68A	probably benign	Het
Lrrc15	T	A	16: 30,274,030	I164F	possibly damaging	Het
Mrrf	G	A	2: 36,141,631	R53H	possibly damaging	Het
Ms4a6d	G	A	19: 11,601,885	T76I	probably damaging	Het
Pkd1l1	T	C	11: 8,868,493	R1332G	probably benign	Het
Plekha1	A	G	7: 130,877,839	Y29C	probably damaging	Het
Pnliprp1	A	T	19: 58,734,730	H221L	probably damaging	Het
Pomt2	T	C	12: 87,124,856	D380G	probably damaging	Het
Ppm1f	C	A	16: 16,910,971	T79N	possibly damaging	Het
Ppp4r3b	A	C	11: 29,211,782	T719P	possibly damaging	Het
Socs4	G	A	14: 47,290,252	V215I	probably benign	Het
Spg11	A	G	2: 122,094,456		probably null	Het
Stk31	T	A	6: 49,437,443	C459S	probably benign	Het
Ttn	A	G	2: 76,709,202	V26153A	possibly damaging	Het
Twf1	C	T	15: 94,580,936		probably benign	Het
Vrk3	A	T	7: 44,769,647	K383M	probably damaging	Het
Wdr83	A	T	8: 85,079,814	N118K	probably damaging	Het

Other mutations in Dnajc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9550:Dnajc16	UTSW	4	141767747	missense	possibly damaging	0.95

Posted On

2012-04-20