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

2900037O03Rik, 4732437J24Rik

MMRRC Submission

067780-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.724) question?

Stock #

R7684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141487500-141518242 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141501879 bp (GRCm39)

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: 77,760,659 (GRCm39)	K1239*	probably null	Het
Abhd6	T	C	14: 8,039,807 (GRCm38)	F60S	probably damaging	Het
Adam6b	G	A	12: 113,455,196 (GRCm39)	W671*	probably null	Het
Ankrd36	A	G	11: 5,520,113 (GRCm39)	T63A	possibly damaging	Het
Arhgef16	A	G	4: 154,366,285 (GRCm39)	V494A	possibly damaging	Het
Arhgef7	T	A	8: 11,869,663 (GRCm39)	M659K	probably benign	Het
Cacna1h	A	G	17: 25,608,346 (GRCm39)	Y854H	probably damaging	Het
Chd3	A	T	11: 69,248,692 (GRCm39)	F780I	possibly damaging	Het
Cldn8	A	G	16: 88,359,335 (GRCm39)	Y197H	probably damaging	Het
Cpne8	A	T	15: 90,533,450 (GRCm39)	D58E	probably damaging	Het
Cul9	T	G	17: 46,820,815 (GRCm39)	Y1954S	probably damaging	Het
Cyp4a10	T	A	4: 115,375,549 (GRCm39)	F11I	probably benign	Het
Cysrt1	A	T	2: 25,129,094 (GRCm39)	C139*	probably null	Het
Dnmt3a	T	C	12: 3,947,340 (GRCm39)	V437A	probably benign	Het
Dok5	T	C	2: 170,683,344 (GRCm39)	C202R	probably damaging	Het
Dusp11	T	A	6: 85,927,542 (GRCm39)	R164S	probably damaging	Het
Dysf	T	C	6: 84,077,117 (GRCm39)	S648P	probably benign	Het
Egfem1	A	T	3: 29,744,334 (GRCm39)	R581S	probably damaging	Het
Enpep	A	G	3: 129,115,094 (GRCm39)	F226S	probably damaging	Het
Ep400	A	G	5: 110,845,218 (GRCm39)	I1541T	unknown	Het
Exd1	A	G	2: 119,350,684 (GRCm39)	S526P	probably damaging	Het
Fam118a	A	G	15: 84,942,982 (GRCm39)	E337G	possibly damaging	Het
Fam20b	T	C	1: 156,518,215 (GRCm39)	N193S	probably benign	Het
Fat3	A	G	9: 15,899,564 (GRCm39)		probably null	Het
Flg2	T	C	3: 93,126,956 (GRCm39)	V1956A	unknown	Het
Fzd10	A	G	5: 128,678,480 (GRCm39)	I67V	possibly damaging	Het
Gckr	A	T	5: 31,465,141 (GRCm39)	D370V	probably damaging	Het
Gm8797	A	T	3: 5,816,148 (GRCm39)	Q62L	probably benign	Het
H6pd	G	T	4: 150,080,519 (GRCm39)	Q109K	probably benign	Het
Higd1a	T	C	9: 121,679,322 (GRCm39)	K55R	possibly damaging	Het
Il1b	C	T	2: 129,209,277 (GRCm39)	V118I	probably benign	Het
Insr	T	C	8: 3,219,753 (GRCm39)	N923S	possibly damaging	Het
Krit1	A	G	5: 3,880,723 (GRCm39)	I561V	possibly damaging	Het
Lamc2	T	C	1: 153,002,771 (GRCm39)	D1070G	probably null	Het
Lpcat2	T	A	8: 93,635,823 (GRCm39)	D408E	possibly damaging	Het
Mst1r	T	A	9: 107,788,762 (GRCm39)	F427Y	probably benign	Het
Mtx1	A	T	3: 89,117,739 (GRCm39)	I258K	possibly damaging	Het
Nckap5	T	C	1: 125,954,594 (GRCm39)	T653A	probably benign	Het
Npas3	A	T	12: 54,115,609 (GRCm39)	N844Y	probably damaging	Het
Nrg3	A	T	14: 39,194,522 (GRCm39)	L79Q	probably damaging	Het
Nsmce1	C	A	7: 125,070,348 (GRCm39)	K154N	probably damaging	Het
Oard1	T	C	17: 48,723,726 (GRCm39)	L124P	probably damaging	Het
Or10ag57	T	C	2: 87,218,372 (GRCm39)	S108P	probably damaging	Het
Or10ak13	T	C	4: 118,639,471 (GRCm39)	M104V	probably benign	Het
Or51a10	G	A	7: 103,698,667 (GRCm39)	T298I	probably damaging	Het
Or51ah3	T	C	7: 103,210,425 (GRCm39)	F247S	probably benign	Het
Ovgp1	A	T	3: 105,887,272 (GRCm39)	T223S	probably damaging	Het
Pik3c2a	A	T	7: 115,987,312 (GRCm39)	Y536*	probably null	Het
Plekho2	A	T	9: 65,466,816 (GRCm39)		probably null	Het
Prelid3b	T	C	2: 174,310,210 (GRCm39)		probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rxfp1	T	A	3: 79,578,214 (GRCm39)	N159I	possibly damaging	Het
Sfmbt1	A	G	14: 30,532,311 (GRCm39)	Q557R	probably damaging	Het
Slc22a18	G	T	7: 143,044,577 (GRCm39)	V177L	probably benign	Het
Slc22a8	A	G	19: 8,587,294 (GRCm39)	I451M	probably benign	Het
Slc39a12	T	C	2: 14,454,670 (GRCm39)	S563P	probably damaging	Het
Snx20	T	C	8: 89,353,863 (GRCm39)	D289G	probably benign	Het
Sptb	A	G	12: 76,658,969 (GRCm39)	Y1189H	probably benign	Het
Tbc1d1	T	A	5: 64,473,829 (GRCm39)	M784K	probably benign	Het
Tbkbp1	T	C	11: 97,038,559 (GRCm39)		probably benign	Het
Tfap2b	G	C	1: 19,284,511 (GRCm39)	D140H	probably damaging	Het
Thy1	G	A	9: 43,957,855 (GRCm39)	G13D	unknown	Het
Ticam1	A	G	17: 56,576,984 (GRCm39)	S704P	unknown	Het
Tmem151b	A	G	17: 45,857,929 (GRCm39)	Y106H	probably damaging	Het
Trappc8	T	C	18: 20,996,559 (GRCm39)	N452S	probably benign	Het
Ttc9c	A	G	19: 8,789,128 (GRCm39)	Y166H	probably damaging	Het
Txndc16	A	G	14: 45,385,325 (GRCm39)	V556A	possibly damaging	Het
Tyrp1	C	A	4: 80,758,862 (GRCm39)	S245Y	probably damaging	Het
Urb1	A	T	16: 90,583,006 (GRCm39)	L621*	probably null	Het
Wdr72	A	T	9: 74,054,292 (GRCm39)	T224S	probably damaging	Het
Zc3h18	T	G	8: 123,134,165 (GRCm39)	S544A	unknown	Het
Zfp462	T	A	4: 55,008,908 (GRCm39)	N291K	probably benign	Het
Zfp609	T	C	9: 65,638,362 (GRCm39)	N290S	possibly damaging	Het
Zfp979	A	T	4: 147,697,799 (GRCm39)	H303Q	probably damaging	Het

Other mutations in Dnajc16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Dnajc16	APN	4	141,490,874 (GRCm39)	splice site	probably null
IGL00840:Dnajc16	APN	4	141,495,314 (GRCm39)	missense	probably damaging	1.00
IGL01503:Dnajc16	APN	4	141,491,008 (GRCm39)	missense	possibly damaging	0.65
IGL01919:Dnajc16	APN	4	141,501,940 (GRCm39)	missense	probably benign	0.06
IGL02065:Dnajc16	APN	4	141,504,244 (GRCm39)	missense	probably damaging	1.00
IGL02544:Dnajc16	APN	4	141,491,958 (GRCm39)	missense	probably damaging	1.00
IGL03028:Dnajc16	APN	4	141,495,043 (GRCm39)	nonsense	probably null
PIT4418001:Dnajc16	UTSW	4	141,498,260 (GRCm39)	missense	probably damaging	0.99
PIT4585001:Dnajc16	UTSW	4	141,491,996 (GRCm39)	missense	probably damaging	1.00
R0071:Dnajc16	UTSW	4	141,495,318 (GRCm39)	missense	probably benign
R0415:Dnajc16	UTSW	4	141,516,359 (GRCm39)	nonsense	probably null
R0532:Dnajc16	UTSW	4	141,516,320 (GRCm39)	missense	probably damaging	1.00
R1418:Dnajc16	UTSW	4	141,495,052 (GRCm39)	nonsense	probably null
R2959:Dnajc16	UTSW	4	141,493,856 (GRCm39)	nonsense	probably null
R3025:Dnajc16	UTSW	4	141,501,922 (GRCm39)	missense	probably benign
R3796:Dnajc16	UTSW	4	141,495,048 (GRCm39)	missense	probably benign
R3854:Dnajc16	UTSW	4	141,490,964 (GRCm39)	nonsense	probably null
R3856:Dnajc16	UTSW	4	141,490,964 (GRCm39)	nonsense	probably null
R4661:Dnajc16	UTSW	4	141,490,859 (GRCm39)	missense	probably damaging	1.00
R4841:Dnajc16	UTSW	4	141,501,936 (GRCm39)	missense	probably damaging	1.00
R4842:Dnajc16	UTSW	4	141,501,936 (GRCm39)	missense	probably damaging	1.00
R5116:Dnajc16	UTSW	4	141,495,280 (GRCm39)	nonsense	probably null
R5126:Dnajc16	UTSW	4	141,501,820 (GRCm39)	missense	probably benign	0.01
R5140:Dnajc16	UTSW	4	141,491,994 (GRCm39)	missense	possibly damaging	0.85
R5275:Dnajc16	UTSW	4	141,495,239 (GRCm39)	missense	possibly damaging	0.82
R5295:Dnajc16	UTSW	4	141,495,239 (GRCm39)	missense	possibly damaging	0.82
R5891:Dnajc16	UTSW	4	141,502,703 (GRCm39)	missense	probably benign
R6888:Dnajc16	UTSW	4	141,504,303 (GRCm39)	missense	probably benign	0.24
R7062:Dnajc16	UTSW	4	141,494,001 (GRCm39)	missense	probably damaging	1.00
R7441:Dnajc16	UTSW	4	141,491,124 (GRCm39)	missense	probably damaging	1.00
R8843:Dnajc16	UTSW	4	141,492,002 (GRCm39)	missense	possibly damaging	0.87
R8924:Dnajc16	UTSW	4	141,494,018 (GRCm39)	nonsense	probably null
R9005:Dnajc16	UTSW	4	141,491,945 (GRCm39)	missense	possibly damaging	0.95
R9053:Dnajc16	UTSW	4	141,510,371 (GRCm39)	missense	probably benign	0.28
R9550:Dnajc16	UTSW	4	141,495,058 (GRCm39)	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