Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02544:Dnajc16'

297757

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: 0.685) question?

Stock #

IGL02544

Quality Score

Status

Chromosome

Chromosomal Location

141760189-141790931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141764647 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 622 (N622D)

Ref Sequence

ENSEMBL: ENSMUSP00000048714 (fasta)

Gene Model

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

PDB Structure

Solution structure of the J domain of the pseudo DnaJ protein, mouse hypothetical mKIAA0962 [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038014
AA Change: N622D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: N622D

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	C	T	8: 105,283,460	V286M	probably benign	Het
Aasdh	A	C	5: 76,902,114	S12A	probably benign	Het
Abcb5	A	T	12: 118,906,268		probably benign	Het
Acap3	G	A	4: 155,892,410	E6K	possibly damaging	Het
Ano3	A	T	2: 110,658,249	I946K	possibly damaging	Het
Arid1a	A	G	4: 133,681,748	V1816A	unknown	Het
Cacna1c	C	T	6: 118,751,479	G335R	probably damaging	Het
Ccnh	C	A	13: 85,202,341	Y118*	probably null	Het
Cep76	C	T	18: 67,634,950		probably benign	Het
Cyp2c65	T	C	19: 39,090,638	V387A	probably damaging	Het
Dapk1	T	G	13: 60,751,217	S834A	probably benign	Het
Ddx39	T	C	8: 83,722,773	S367P	probably benign	Het
Dicer1	A	G	12: 104,714,832	I474T	probably damaging	Het
Dnah10	G	A	5: 124,799,005	R2579H	probably benign	Het
Eif3c	G	T	7: 126,547,612	S799*	probably null	Het
Fbxo9	A	G	9: 78,087,259	Y259H	probably damaging	Het
Fpr-rs4	A	T	17: 18,022,211	H160L	probably benign	Het
Galc	A	T	12: 98,231,442	V336D	probably benign	Het
Gm14548	T	A	7: 3,897,186	Y139F	probably damaging	Het
Mfrp	T	C	9: 44,102,794	L153P	probably damaging	Het
Mtx1	C	A	3: 89,210,396	W30L	probably damaging	Het
Mysm1	A	T	4: 94,952,306	D624E	probably damaging	Het
Naa16	A	G	14: 79,335,820	F837L	probably damaging	Het
Olfr1118	C	T	2: 87,309,127	R113C	possibly damaging	Het
Olfr193	A	T	16: 59,110,144	H155Q	probably damaging	Het
Olfr346	A	G	2: 36,688,836	Y278C	probably damaging	Het
Olfr705	T	C	7: 106,714,535	I49V	probably benign	Het
Pde4d	G	T	13: 109,740,523	D137Y	probably damaging	Het
Pik3r1	G	T	13: 101,687,276	R534S	probably damaging	Het
Plekha5	A	C	6: 140,589,728	E239A	possibly damaging	Het
Psap	G	T	10: 60,300,626		probably benign	Het
Rap2b	T	C	3: 61,365,139	F28S	probably damaging	Het
Rfc5	A	T	5: 117,386,866		probably benign	Het
Ryr1	C	T	7: 29,115,599	D175N	probably benign	Het
Sbno1	T	G	5: 124,403,983	I370L	probably damaging	Het
Slc17a6	T	A	7: 51,666,155	C390*	probably null	Het
Srsf7	A	T	17: 80,204,191		probably benign	Het
Tbc1d10c	C	T	19: 4,187,960	D272N	probably benign	Het
Tll2	A	G	19: 41,135,965	F204L	probably damaging	Het
Tmc1	T	A	19: 20,906,963	T38S	probably benign	Het
Tmem184b	A	T	15: 79,365,807	I256K	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Trip11	G	A	12: 101,893,521	R365W	probably damaging	Het
Ubr4	C	T	4: 139,415,118	P1339S	probably damaging	Het
Vmn2r83	T	A	10: 79,481,459		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
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

Posted On

2015-04-16