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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL03201

Quality Score

Status

Chromosome

Chromosomal Location

35671103-35703144 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35680919 bp (GRCm38)

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: 83,228,267	E105G	probably damaging	Het
Apc	A	G	18: 34,312,376	D757G	probably damaging	Het
Arpc3	A	T	5: 122,401,718	I45F	probably damaging	Het
C3	C	A	17: 57,222,249	V597L	probably damaging	Het
Ccdc181	A	G	1: 164,280,644	N299D	probably benign	Het
Cdr1	T	A	X: 61,185,548	Q4L	unknown	Het
Cep170	G	A	1: 176,736,888	S1464F	probably damaging	Het
Cfh	A	G	1: 140,102,819	Y826H	probably damaging	Het
Chic2	A	G	5: 75,011,293		probably benign	Het
Chrne	T	C	11: 70,618,512	H81R	probably benign	Het
Clec4e	A	G	6: 123,283,640	I153T	probably benign	Het
Col14a1	A	T	15: 55,408,904	D699V	unknown	Het
Cul3	T	G	1: 80,281,427	S379R	probably damaging	Het
Cyp3a11	T	A	5: 145,860,379	I397F	possibly damaging	Het
Dnah1	T	C	14: 31,300,949	K1077R	probably benign	Het
Dydc1	T	G	14: 41,078,690	L74R	probably damaging	Het
Echdc2	G	T	4: 108,169,870	A71S	possibly damaging	Het
Fer1l4	T	A	2: 156,044,730	D693V	probably benign	Het
Fscn3	T	C	6: 28,430,605	V258A	probably benign	Het
Herc2	T	A	7: 56,219,768	I4255N	probably damaging	Het
Il1rl2	A	G	1: 40,343,040	I171V	possibly damaging	Het
Ino80d	G	T	1: 63,058,308	T809K	probably damaging	Het
Lama2	A	T	10: 27,344,570	L433*	probably null	Het
Nlrp9c	A	T	7: 26,385,108	S349T	probably benign	Het
Parp11	T	C	6: 127,490,018	I124T	possibly damaging	Het
Parp8	A	T	13: 116,863,069		probably benign	Het
Pgm2	T	C	4: 99,970,039	F379L	probably damaging	Het
Phf21b	T	C	15: 84,787,247	H482R	probably benign	Het
Phka1	A	C	X: 102,541,110		probably null	Het
Plekhh1	T	C	12: 79,053,656	W133R	probably damaging	Het
Polr2a	A	C	11: 69,745,690	L405*	probably null	Het
Prrg3	T	A	X: 71,966,502	V3E	probably damaging	Het
Pth1r	T	C	9: 110,722,580	K484E	probably damaging	Het
Rcbtb1	T	C	14: 59,223,278	L230P	probably damaging	Het
Slc51a	G	A	16: 32,478,750	R110C	probably damaging	Het
Ssbp2	T	C	13: 91,524,601	Y27H	probably damaging	Het
Sult2a4	A	G	7: 13,931,767	V157A	probably damaging	Het
Tbx15	G	A	3: 99,351,980	S389N	probably benign	Het
Ttn	T	G	2: 76,841,080		probably benign	Het
Ube2n	T	C	10: 95,542,265		probably benign	Het
Wdr95	G	A	5: 149,581,887		probably null	Het
Wsb2	T	C	5: 117,376,555	S298P	possibly damaging	Het
Zc3h7a	T	C	16: 11,156,302		probably null	Het
Zfat	A	G	15: 68,165,909	C906R	probably damaging	Het
Zfp747	G	A	7: 127,374,008	T330I	probably damaging	Het
Zfp949	A	G	9: 88,568,664	R96G	probably benign	Het

Other mutations in Dnajc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Dnajc18	APN	18	35680942	splice site	probably benign
IGL01152:Dnajc18	APN	18	35680873	missense	probably benign	0.02
IGL01621:Dnajc18	APN	18	35680840	missense	probably benign
R1464:Dnajc18	UTSW	18	35680847	missense	possibly damaging	0.88
R1464:Dnajc18	UTSW	18	35680847	missense	possibly damaging	0.88
R1801:Dnajc18	UTSW	18	35680804	missense	probably damaging	1.00
R3893:Dnajc18	UTSW	18	35700995	splice site	probably null
R4974:Dnajc18	UTSW	18	35683319	missense	possibly damaging	0.75
R5234:Dnajc18	UTSW	18	35683298	missense	probably benign	0.12
R6326:Dnajc18	UTSW	18	35680925	missense	possibly damaging	0.95
R6360:Dnajc18	UTSW	18	35686709	missense	probably damaging	1.00
R6460:Dnajc18	UTSW	18	35700910	missense	probably benign	0.41
R7215:Dnajc18	UTSW	18	35681981	missense	probably benign
R7492:Dnajc18	UTSW	18	35686793	missense	probably damaging	1.00
R8290:Dnajc18	UTSW	18	35683271	nonsense	probably null
R9364:Dnajc18	UTSW	18	35675207	missense	probably damaging	1.00
R9464:Dnajc18	UTSW	18	35697113	missense	probably damaging	0.96
X0063:Dnajc18	UTSW	18	35686733	missense	probably damaging	0.97

Posted On

2016-08-02