Mutagenetix > Incidental Mutation

Incidental Mutation 'R1418:Dnajc16'

159903

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

039474-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R1418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141760189-141790931 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 141767741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 520 (S520*)

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 null
Transcript: ENSMUST00000038014
AA Change: S520*

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: S520*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

97% (92/95)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,179,151		probably benign	Het
Adamts12	T	A	15: 11,286,804	W832R	probably damaging	Het
Alb	A	G	5: 90,464,202		probably benign	Het
Arnt	A	G	3: 95,470,399		probably benign	Het
Asap2	A	C	12: 21,239,585	N501H	probably damaging	Het
Asap2	A	G	12: 21,239,589	E499G	probably damaging	Het
Atp5b	C	T	10: 128,083,298		probably benign	Het
Atrnl1	G	A	19: 57,935,705		probably null	Het
AW554918	T	G	18: 25,339,699		probably null	Het
Bod1l	G	A	5: 41,819,471	T1500I	probably damaging	Het
Btbd11	C	A	10: 85,645,578	T948K	probably damaging	Het
Cd101	A	T	3: 101,018,775	Y209*	probably null	Het
Cdk12	T	A	11: 98,241,785	S1013R	unknown	Het
Cntd1	T	A	11: 101,285,740	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,344,870		probably null	Het
Col17a1	T	A	19: 47,671,505	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,238,738	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,405,905		probably null	Het
Dcun1d3	A	G	7: 119,857,935	F185L	probably damaging	Het
Dnah17	T	A	11: 118,074,023	N2365Y	probably damaging	Het
Dnah7a	T	A	1: 53,647,236		probably benign	Het
Dsg1b	G	T	18: 20,397,430	E381*	probably null	Het
Dusp1	A	G	17: 26,508,319	V2A	probably benign	Het
Elf1	T	C	14: 79,560,775	V34A	probably damaging	Het
Endou	A	T	15: 97,718,973		probably benign	Het
Epn2	A	G	11: 61,523,086	S419P	probably benign	Het
Fam160b1	G	A	19: 57,371,162	A45T	possibly damaging	Het
Fat4	T	C	3: 38,890,813	I1285T	probably damaging	Het
Fcgr2b	T	C	1: 170,961,081	Y319C	probably damaging	Het
Gfra1	A	C	19: 58,238,417	S461A	possibly damaging	Het
Gli2	T	G	1: 118,841,936	I629L	probably damaging	Het
Gm13083	T	A	4: 143,616,034	I237K	probably benign	Het
Gm17661	GA	GAA	2: 90,917,709		noncoding transcript	Het
Gm5096	A	G	18: 87,757,334	K327R	probably damaging	Het
Gnas	C	T	2: 174,345,214		probably benign	Het
Gpx3	G	A	11: 54,909,596	V207I	probably damaging	Het
Hormad2	A	G	11: 4,409,005		probably null	Het
Hsd17b4	G	T	18: 50,130,187		probably benign	Het
Kmt2b	A	G	7: 30,576,960		probably benign	Het
Lrch1	T	C	14: 74,804,269		probably benign	Het
Mark3	T	C	12: 111,627,837	I307T	possibly damaging	Het
Mroh8	G	A	2: 157,241,854		probably benign	Het
Mtch2	A	T	2: 90,853,015		probably benign	Het
Mtif2	G	A	11: 29,545,002	V701I	probably benign	Het
Mug1	C	T	6: 121,838,676	S13L	probably benign	Het
Naa25	T	G	5: 121,423,734	L450R	probably damaging	Het
Nr4a2	A	T	2: 57,108,324	N543K	probably damaging	Het
Nrp2	C	T	1: 62,783,332	R695*	probably null	Het
Olfr1115	G	T	2: 87,252,422	G162C	probably benign	Het
Olfr373	T	C	8: 72,100,387	L209P	probably damaging	Het
Olfr982	T	A	9: 40,074,472	L59H	probably damaging	Het
Otog	G	T	7: 46,274,615	A1133S	probably damaging	Het
Pclo	A	T	5: 14,678,130		probably benign	Het
Pdcd11	A	G	19: 47,130,077	D1794G	probably damaging	Het
Pde4d	C	A	13: 109,950,387	S609*	probably null	Het
Pkn3	T	A	2: 30,083,047	V323E	probably damaging	Het
Plekhd1	A	G	12: 80,692,885	T3A	probably benign	Het
Plekhg4	G	A	8: 105,379,110	A736T	probably benign	Het
Plppr2	C	T	9: 21,947,789	P401S	possibly damaging	Het
Poln	A	G	5: 34,078,975	V604A	probably benign	Het
Prkd2	A	G	7: 16,869,545	D800G	probably benign	Het
Ptprb	A	G	10: 116,319,470	T710A	probably benign	Het
Qrfpr	C	A	3: 36,180,095	G366W	probably damaging	Het
Qser1	C	A	2: 104,777,431	A1471S	probably damaging	Het
Ralbp1	A	T	17: 65,859,148		probably benign	Het
Rars	A	T	11: 35,809,740	Y505N	probably damaging	Het
Sec24b	T	C	3: 130,007,423	N408S	probably damaging	Het
Slc38a9	T	C	13: 112,690,180	C151R	probably benign	Het
Smcr8	T	C	11: 60,778,032	I2T	probably damaging	Het
Smtnl2	T	C	11: 72,401,421	T301A	probably damaging	Het
Smyd1	G	A	6: 71,262,167	T13I	probably benign	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Szt2	A	T	4: 118,387,779	S1187T	probably benign	Het
Tdo2	A	G	3: 81,961,468		probably null	Het
Tfap2a	T	A	13: 40,717,204	M405L	possibly damaging	Het
Thap12	A	G	7: 98,716,830	D735G	probably damaging	Het
Tmem132b	C	A	5: 125,638,249	Q341K	probably benign	Het
Tnip3	T	C	6: 65,597,429	V88A	probably benign	Het
Trim45	G	T	3: 100,927,298	M432I	probably benign	Het
Ttn	A	G	2: 76,735,411	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,418,575	F989S	probably damaging	Het
Ubox5	A	G	2: 130,600,290	L159P	probably damaging	Het
Uevld	A	T	7: 46,938,010	V314E	possibly damaging	Het
Uhrf1bp1	A	G	17: 27,894,577	K1241R	probably benign	Het
Urb1	T	C	16: 90,769,466	M1478V	probably damaging	Het
Utrn	C	T	10: 12,713,350	V871I	probably benign	Het
Vat1l	T	C	8: 114,282,361		probably benign	Het
Vmn1r205	T	C	13: 22,592,879	K18E	probably benign	Het
Zfp518a	T	A	19: 40,914,359	Y911N	probably damaging	Het
Zfyve28	A	G	5: 34,217,246	C475R	probably damaging	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
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'- GCAAAGGCAGCAGAAGTCGGTTATC -3'
(R):5'- CCATCTTGGAAAGGAGGAACACAGC -3'

Sequencing Primer
(F):5'- AAGTCGGTTATCGGGCTGTG -3'
(R):5'- TGAGAGCGATAAGTTCGTCC -3'

Posted On

2014-03-14