Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03201:Dnajc18'

412990

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc18

Ensembl Gene

ENSMUSG00000024350

Gene Name

DnaJ heat shock protein family (Hsp40) member C18

Synonyms

2700075B01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

IGL03201

Quality Score

Status

Chromosome

Chromosomal Location

35804156-35841467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35813972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 266 (S266P)

Ref Sequence

ENSEMBL: ENSMUSP00000025208 (fasta)

Gene Model

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

AlphaFold

Q9CZJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000025208
AA Change: S266P

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025208
Gene: ENSMUSG00000024350
AA Change: S266P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,468 (GRCm39)	E105G	probably damaging	Het
Apc	A	G	18: 34,445,429 (GRCm39)	D757G	probably damaging	Het
Arpc3	A	T	5: 122,539,781 (GRCm39)	I45F	probably damaging	Het
C3	C	A	17: 57,529,249 (GRCm39)	V597L	probably damaging	Het
Ccdc181	A	G	1: 164,108,213 (GRCm39)	N299D	probably benign	Het
Cdr1	T	A	X: 60,229,154 (GRCm39)	Q4L	unknown	Het
Cep170	G	A	1: 176,564,454 (GRCm39)	S1464F	probably damaging	Het
Cfh	A	G	1: 140,030,557 (GRCm39)	Y826H	probably damaging	Het
Chic2	A	G	5: 75,171,954 (GRCm39)		probably benign	Het
Chrne	T	C	11: 70,509,338 (GRCm39)	H81R	probably benign	Het
Clec4e	A	G	6: 123,260,599 (GRCm39)	I153T	probably benign	Het
Col14a1	A	T	15: 55,272,300 (GRCm39)	D699V	unknown	Het
Cul3	T	G	1: 80,259,144 (GRCm39)	S379R	probably damaging	Het
Cyp3a11	T	A	5: 145,797,189 (GRCm39)	I397F	possibly damaging	Het
Dnah1	T	C	14: 31,022,906 (GRCm39)	K1077R	probably benign	Het
Dydc1	T	G	14: 40,800,647 (GRCm39)	L74R	probably damaging	Het
Echdc2	G	T	4: 108,027,067 (GRCm39)	A71S	possibly damaging	Het
Fer1l4	T	A	2: 155,886,650 (GRCm39)	D693V	probably benign	Het
Fscn3	T	C	6: 28,430,604 (GRCm39)	V258A	probably benign	Het
Herc2	T	A	7: 55,869,516 (GRCm39)	I4255N	probably damaging	Het
Il1rl2	A	G	1: 40,382,200 (GRCm39)	I171V	possibly damaging	Het
Ino80d	G	T	1: 63,097,467 (GRCm39)	T809K	probably damaging	Het
Lama2	A	T	10: 27,220,566 (GRCm39)	L433*	probably null	Het
Nlrp9c	A	T	7: 26,084,533 (GRCm39)	S349T	probably benign	Het
Parp11	T	C	6: 127,466,981 (GRCm39)	I124T	possibly damaging	Het
Parp8	A	T	13: 116,999,605 (GRCm39)		probably benign	Het
Pgm1	T	C	4: 99,827,236 (GRCm39)	F379L	probably damaging	Het
Phf21b	T	C	15: 84,671,448 (GRCm39)	H482R	probably benign	Het
Phka1	A	C	X: 101,584,716 (GRCm39)		probably null	Het
Plekhh1	T	C	12: 79,100,430 (GRCm39)	W133R	probably damaging	Het
Polr2a	A	C	11: 69,636,516 (GRCm39)	L405*	probably null	Het
Prrg3	T	A	X: 71,010,108 (GRCm39)	V3E	probably damaging	Het
Pth1r	T	C	9: 110,551,648 (GRCm39)	K484E	probably damaging	Het
Rcbtb1	T	C	14: 59,460,727 (GRCm39)	L230P	probably damaging	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Ssbp2	T	C	13: 91,672,720 (GRCm39)	Y27H	probably damaging	Het
Sult2a4	A	G	7: 13,665,692 (GRCm39)	V157A	probably damaging	Het
Tbx15	G	A	3: 99,259,296 (GRCm39)	S389N	probably benign	Het
Ttn	T	G	2: 76,671,424 (GRCm39)		probably benign	Het
Ube2n	T	C	10: 95,378,127 (GRCm39)		probably benign	Het
Wdr95	G	A	5: 149,505,352 (GRCm39)		probably null	Het
Wsb2	T	C	5: 117,514,620 (GRCm39)	S298P	possibly damaging	Het
Zc3h7a	T	C	16: 10,974,166 (GRCm39)		probably null	Het
Zfat	A	G	15: 68,037,758 (GRCm39)	C906R	probably damaging	Het
Zfp747	G	A	7: 126,973,180 (GRCm39)	T330I	probably damaging	Het
Zfp949	A	G	9: 88,450,717 (GRCm39)	R96G	probably benign	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
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
R5234:Dnajc18	UTSW	18	35,816,351 (GRCm39)	missense	probably benign	0.12
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

Posted On

2016-08-02