Mutagenetix > Incidental Mutation

Incidental Mutation 'R5140:Dnajc16'

396386

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

042726-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R5140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141760189-141790931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 141764683 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 610 (T610P)

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

possibly damaging
Transcript: ENSMUST00000038014
AA Change: T610P

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: T610P

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

Meta Mutation Damage Score

0.0979

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,702,154	I405N	probably damaging	Het
Abhd17b	T	C	19: 21,684,181	L244P	probably damaging	Het
Aebp2	T	A	6: 140,633,806	C34*	probably null	Het
Arhgap33	A	G	7: 30,528,301	V491A	probably damaging	Het
Cacul1	C	T	19: 60,563,181	R201Q	probably benign	Het
Cald1	T	A	6: 34,753,580	N77K	probably damaging	Het
Clcn6	A	C	4: 148,038,317		probably benign	Het
Copb1	A	T	7: 114,246,800	H178Q	probably benign	Het
Dnah17	C	T	11: 118,086,945	V1854I	probably damaging	Het
Enpp1	T	C	10: 24,652,852	N624S	possibly damaging	Het
F2	CAGAAAG	CAG	2: 91,634,957		probably benign	Het
Foxn1	T	C	11: 78,361,633	T310A	probably benign	Het
Galnt16	T	A	12: 80,581,299	D256E	possibly damaging	Het
Gbp11	T	C	5: 105,331,053	D173G	probably damaging	Het
Glmn	A	G	5: 107,570,200	S284P	probably damaging	Het
Gm3985	A	G	8: 32,890,665		noncoding transcript	Het
Hs3st6	A	T	17: 24,758,547	M334L	probably benign	Het
Idua	T	A	5: 108,680,314	D155E	probably damaging	Het
Kdm6b	T	C	11: 69,400,055		probably benign	Het
Kiss1r	T	C	10: 79,921,627	F272L	probably damaging	Het
Krt35	T	C	11: 100,094,517	K233E	probably damaging	Het
Krt36	C	T	11: 100,103,502	V250M	probably damaging	Het
Lhpp	T	C	7: 132,705,632	Y253H	probably damaging	Het
Npas3	T	A	12: 53,501,114	L51*	probably null	Het
Olfr1224-ps1	T	C	2: 89,157,107	K23E	probably benign	Het
Olfr1247	T	C	2: 89,609,283	Y273C	probably damaging	Het
Olfr347	T	A	2: 36,734,498	M59K	possibly damaging	Het
Olfr455	T	C	6: 42,538,515	H169R	probably benign	Het
Olfr661	T	C	7: 104,688,900	M295T	probably benign	Het
Pcdhb9	T	G	18: 37,401,133	V60G	probably benign	Het
Prkce	T	C	17: 86,482,142	V239A	probably benign	Het
Ralgapa1	C	T	12: 55,665,674	R1804Q	probably damaging	Het
Ralgapa1	C	T	12: 55,776,152	C293Y	probably damaging	Het
Rnf26	C	A	9: 44,112,774		probably null	Het
Safb2	T	C	17: 56,577,901	D178G	probably benign	Het
Scn9a	C	T	2: 66,565,167	V178M	possibly damaging	Het
Sergef	A	G	7: 46,635,602		probably benign	Het
Serpinb9	G	A	13: 33,006,561	G7R	probably benign	Het
Setd2	C	A	9: 110,551,129	D1337E	probably benign	Het
Shprh	T	A	10: 11,154,705	M222K	probably benign	Het
Slc25a40	T	C	5: 8,430,486	Y79H	probably damaging	Het
Slc41a2	A	G	10: 83,297,291	M297T	probably damaging	Het
Sparcl1	C	T	5: 104,085,763	M573I	probably damaging	Het
Spcs1	A	G	14: 31,000,613	L83S	probably benign	Het
Sult1c1	T	C	17: 53,969,715	N106S	probably benign	Het
Szt2	C	T	4: 118,386,981	R1309Q	possibly damaging	Het
Ube3c	T	A	5: 29,635,711	F695I	probably damaging	Het
Uimc1	A	G	13: 55,075,517	L314P	probably damaging	Het
Usp17le	C	T	7: 104,769,438	E166K	probably damaging	Het
Vmn2r92	G	A	17: 18,152,050	D41N	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
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
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'- CAAGTGGAGAGTCCTCTTCTTCC -3'
(R):5'- AGGCGCTCTCAGATTCACTG -3'

Sequencing Primer
(F):5'- GGAGAGTCCTCTTCTTCCTTAGATAC -3'
(R):5'- CCCACATAATTGAGGCTTGCCTTAAG -3'

Posted On

2016-06-21