Mutagenetix > Incidental Mutation

Incidental Mutation 'R5234:Dnajc18'

398253

Institutional Source

Beutler Lab

Gene Symbol

Dnajc18

Ensembl Gene

ENSMUSG00000024350

Gene Name

DnaJ heat shock protein family (Hsp40) member C18

Synonyms

2700075B01Rik

MMRRC Submission

042806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35804156-35841467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35816351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 196 (T196A)

Ref Sequence

ENSEMBL: ENSMUSP00000025208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025208]

AlphaFold

Q9CZJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000025208
AA Change: T196A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025208
Gene: ENSMUSG00000024350
AA Change: T196A

Domain	Start	End	E-Value	Type
DnaJ	81	138	6.52e-27	SMART
low complexity region	200	218	N/A	INTRINSIC
Pfam:DUF1977	243	349	1.7e-28	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,302,823 (GRCm39)	T2132M	probably damaging	Het
Abca8b	A	T	11: 109,867,420 (GRCm39)	F213I	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Adamts6	A	G	13: 104,630,130 (GRCm39)	Y1091C	probably damaging	Het
Adamtsl4	T	C	3: 95,588,230 (GRCm39)	M586V	probably benign	Het
Anapc4	T	C	5: 53,006,118 (GRCm39)	S336P	probably damaging	Het
Atp1a4	A	T	1: 172,054,737 (GRCm39)	I964K	possibly damaging	Het
Bcan	A	T	3: 87,903,453 (GRCm39)	D246E	probably damaging	Het
Ccnf	G	A	17: 24,453,411 (GRCm39)	R343*	probably null	Het
Col6a5	T	C	9: 105,741,404 (GRCm39)	H2505R	probably damaging	Het
Dlg5	T	A	14: 24,242,930 (GRCm39)	M72L	probably damaging	Het
Dnajc19	T	A	3: 34,112,108 (GRCm39)	I146F	probably benign	Het
Espnl	A	G	1: 91,272,515 (GRCm39)	D581G	probably benign	Het
Fam167a	T	C	14: 63,689,787 (GRCm39)	L28P	probably damaging	Het
Fra10ac1	T	C	19: 38,204,294 (GRCm39)	D94G	probably damaging	Het
Fut8	A	G	12: 77,379,004 (GRCm39)	H35R	probably benign	Het
Gad1-ps	T	A	10: 99,281,188 (GRCm39)		noncoding transcript	Het
Garin2	T	A	12: 78,762,045 (GRCm39)	Y236*	probably null	Het
Idh2	A	T	7: 79,745,853 (GRCm39)	V333E	probably damaging	Het
Inpp5f	A	G	7: 128,265,407 (GRCm39)	I121V	probably benign	Het
Itga1	A	T	13: 115,185,839 (GRCm39)	Y54*	probably null	Het
Lax1	A	G	1: 133,608,321 (GRCm39)	V140A	probably benign	Het
Ncoa6	A	G	2: 155,279,933 (GRCm39)	F28L	probably benign	Het
Or12e10	T	C	2: 87,641,112 (GRCm39)	V316A	probably benign	Het
Or1q1	T	C	2: 36,887,107 (GRCm39)	V95A	probably benign	Het
Polr2a	T	C	11: 69,627,666 (GRCm39)	I1414V	probably benign	Het
Ppp1r14b	A	G	19: 6,954,227 (GRCm39)	E115G	possibly damaging	Het
Prune2	A	G	19: 17,096,032 (GRCm39)	D512G	probably damaging	Het
Psmd11	A	G	11: 80,319,566 (GRCm39)	I19V	probably benign	Het
Pthlh	C	A	6: 147,158,592 (GRCm39)	G123W	probably damaging	Het
Qars1	T	A	9: 108,391,364 (GRCm39)	L572Q	probably damaging	Het
Rubcn	T	C	16: 32,656,828 (GRCm39)	I516V	probably damaging	Het
Sgsm3	A	T	15: 80,892,145 (GRCm39)	S238C	probably damaging	Het
Slc25a22	C	A	7: 141,014,116 (GRCm39)		probably benign	Het
Slc4a1	G	A	11: 102,252,209 (GRCm39)	R5W	probably benign	Het
Tie1	G	A	4: 118,339,959 (GRCm39)	T356I	probably benign	Het
Tnn	A	T	1: 159,972,569 (GRCm39)	H344Q	possibly damaging	Het
Tnrc6c	G	T	11: 117,651,555 (GRCm39)	V1693F	probably benign	Het
Topaz1	C	T	9: 122,619,258 (GRCm39)	T1285M	possibly damaging	Het
Trank1	A	T	9: 111,215,535 (GRCm39)	S1822C	probably damaging	Het
Ttll11	A	C	2: 35,830,745 (GRCm39)	Y209D	probably damaging	Het
Unc45a	C	G	7: 79,978,547 (GRCm39)	A634P	probably benign	Het
Vmn2r4	C	T	3: 64,305,878 (GRCm39)	V515I	possibly damaging	Het

Other mutations in Dnajc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Dnajc18	APN	18	35,813,995 (GRCm39)	splice site	probably benign
IGL01152:Dnajc18	APN	18	35,813,926 (GRCm39)	missense	probably benign	0.02
IGL01621:Dnajc18	APN	18	35,813,893 (GRCm39)	missense	probably benign
IGL03201:Dnajc18	APN	18	35,813,972 (GRCm39)	missense	probably benign	0.19
R1464:Dnajc18	UTSW	18	35,813,900 (GRCm39)	missense	possibly damaging	0.88
R1464:Dnajc18	UTSW	18	35,813,900 (GRCm39)	missense	possibly damaging	0.88
R1801:Dnajc18	UTSW	18	35,813,857 (GRCm39)	missense	probably damaging	1.00
R3893:Dnajc18	UTSW	18	35,834,048 (GRCm39)	splice site	probably null
R4974:Dnajc18	UTSW	18	35,816,372 (GRCm39)	missense	possibly damaging	0.75
R6326:Dnajc18	UTSW	18	35,813,978 (GRCm39)	missense	possibly damaging	0.95
R6360:Dnajc18	UTSW	18	35,819,762 (GRCm39)	missense	probably damaging	1.00
R6460:Dnajc18	UTSW	18	35,833,963 (GRCm39)	missense	probably benign	0.41
R7215:Dnajc18	UTSW	18	35,815,034 (GRCm39)	missense	probably benign
R7492:Dnajc18	UTSW	18	35,819,846 (GRCm39)	missense	probably damaging	1.00
R8290:Dnajc18	UTSW	18	35,816,324 (GRCm39)	nonsense	probably null
R9364:Dnajc18	UTSW	18	35,808,260 (GRCm39)	missense	probably damaging	1.00
R9464:Dnajc18	UTSW	18	35,830,166 (GRCm39)	missense	probably damaging	0.96
X0063:Dnajc18	UTSW	18	35,819,786 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTTTACCAGCACAGCTCAAGTG -3'
(R):5'- TTTTCTGCTGGGTCAGACC -3'

Sequencing Primer
(F):5'- TGGGAGTCTAGCACCGATTATACC -3'
(R):5'- CTGGGTCAGACCGGCAG -3'

Posted On

2016-07-06