Mutagenetix > Incidental Mutation

Incidental Mutation 'R7684:Dnajc16'

592925

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R7684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141760189-141790931 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141774568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 317 (V317A)

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: V317A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000048714
Gene: ENSMUSG00000040697
AA Change: V317A

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,612,540	K1239*	probably null	Het
Abhd6	T	C	14: 8,039,807	F60S	probably damaging	Het
Adam6b	G	A	12: 113,491,576	W671*	probably null	Het
Ankrd36	A	G	11: 5,570,113	T63A	possibly damaging	Het
Arhgef16	A	G	4: 154,281,828	V494A	possibly damaging	Het
Arhgef7	T	A	8: 11,819,663	M659K	probably benign	Het
Cacna1h	A	G	17: 25,389,372	Y854H	probably damaging	Het
Chd3	A	T	11: 69,357,866	F780I	possibly damaging	Het
Cldn8	A	G	16: 88,562,447	Y197H	probably damaging	Het
Cpne8	A	T	15: 90,649,247	D58E	probably damaging	Het
Cul9	T	G	17: 46,509,889	Y1954S	probably damaging	Het
Cyp4a10	T	A	4: 115,518,352	F11I	probably benign	Het
Cysrt1	A	T	2: 25,239,082	C139*	probably null	Het
Dnmt3a	T	C	12: 3,897,340	V437A	probably benign	Het
Dok5	T	C	2: 170,841,424	C202R	probably damaging	Het
Dusp11	T	A	6: 85,950,560	R164S	probably damaging	Het
Dysf	T	C	6: 84,100,135	S648P	probably benign	Het
Egfem1	A	T	3: 29,690,185	R581S	probably damaging	Het
Enpep	A	G	3: 129,321,445	F226S	probably damaging	Het
Ep400	A	G	5: 110,697,352	I1541T	unknown	Het
Exd1	A	G	2: 119,520,203	S526P	probably damaging	Het
Fam118a	A	G	15: 85,058,781	E337G	possibly damaging	Het
Fam20b	T	C	1: 156,690,645	N193S	probably benign	Het
Fat3	A	G	9: 15,988,268		probably null	Het
Flg2	T	C	3: 93,219,649	V1956A	unknown	Het
Fzd10	A	G	5: 128,601,416	I67V	possibly damaging	Het
Gckr	A	T	5: 31,307,797	D370V	probably damaging	Het
Gm8797	A	T	3: 5,751,088	Q62L	probably benign	Het
H6pd	G	T	4: 149,996,062	Q109K	probably benign	Het
Higd1a	T	C	9: 121,850,256	K55R	possibly damaging	Het
Il1b	C	T	2: 129,367,357	V118I	probably benign	Het
Insr	T	C	8: 3,169,753	N923S	possibly damaging	Het
Krit1	A	G	5: 3,830,723	I561V	possibly damaging	Het
Lamc2	T	C	1: 153,127,025	D1070G	probably null	Het
Lpcat2	T	A	8: 92,909,195	D408E	possibly damaging	Het
Mst1r	T	A	9: 107,911,563	F427Y	probably benign	Het
Mtx1	A	T	3: 89,210,432	I258K	possibly damaging	Het
Nckap5	T	C	1: 126,026,857	T653A	probably benign	Het
Npas3	A	T	12: 54,068,826	N844Y	probably damaging	Het
Nrg3	A	T	14: 39,472,565	L79Q	probably damaging	Het
Nsmce1	C	A	7: 125,471,176	K154N	probably damaging	Het
Oard1	T	C	17: 48,416,698	L124P	probably damaging	Het
Olfr1122	T	C	2: 87,388,028	S108P	probably damaging	Het
Olfr1337	T	C	4: 118,782,274	M104V	probably benign	Het
Olfr615	T	C	7: 103,561,218	F247S	probably benign	Het
Olfr642	G	A	7: 104,049,460	T298I	probably damaging	Het
Ovgp1	A	T	3: 105,979,956	T223S	probably damaging	Het
Pik3c2a	A	T	7: 116,388,077	Y536*	probably null	Het
Plekho2	A	T	9: 65,559,534		probably null	Het
Prelid3b	T	C	2: 174,468,417		probably null	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rxfp1	T	A	3: 79,670,907	N159I	possibly damaging	Het
Sfmbt1	A	G	14: 30,810,354	Q557R	probably damaging	Het
Slc22a18	G	T	7: 143,490,840	V177L	probably benign	Het
Slc22a8	A	G	19: 8,609,930	I451M	probably benign	Het
Slc39a12	T	C	2: 14,449,859	S563P	probably damaging	Het
Snx20	T	C	8: 88,627,235	D289G	probably benign	Het
Sptb	A	G	12: 76,612,195	Y1189H	probably benign	Het
Tbc1d1	T	A	5: 64,316,486	M784K	probably benign	Het
Tbkbp1	T	C	11: 97,147,733		probably benign	Het
Tfap2b	G	C	1: 19,214,287	D140H	probably damaging	Het
Thy1	G	A	9: 44,046,558	G13D	unknown	Het
Ticam1	A	G	17: 56,269,984	S704P	unknown	Het
Tmem151b	A	G	17: 45,547,003	Y106H	probably damaging	Het
Trappc8	T	C	18: 20,863,502	N452S	probably benign	Het
Ttc9c	A	G	19: 8,811,764	Y166H	probably damaging	Het
Txndc16	A	G	14: 45,147,868	V556A	possibly damaging	Het
Tyrp1	C	A	4: 80,840,625	S245Y	probably damaging	Het
Urb1	A	T	16: 90,786,118	L621*	probably null	Het
Wdr72	A	T	9: 74,147,010	T224S	probably damaging	Het
Zc3h18	T	G	8: 122,407,426	S544A	unknown	Het
Zfp462	T	A	4: 55,008,908	N291K	probably benign	Het
Zfp609	T	C	9: 65,731,080	N290S	possibly damaging	Het
Zfp979	A	T	4: 147,613,342	H303Q	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
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
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'- ATCTGAAACAAAGTCTCACTCTAGC -3'
(R):5'- AGACTCATGGTTCATCCCAGC -3'

Sequencing Primer
(F):5'- GCTTAGGCTATCCACAGACTCATG -3'
(R):5'- CCATGGGCGTCAGTGGGTC -3'

Posted On

2019-11-12