Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02545:4930523C07Rik'

297777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930523C07Rik

Ensembl Gene

ENSMUSG00000090394

Gene Name

RIKEN cDNA 4930523C07 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02545

Quality Score

Status

Chromosome

Chromosomal Location

159871950-159906157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 159902994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 88 (L88P)

Ref Sequence

ENSEMBL: ENSMUSP00000137410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097513]

AlphaFold

E9Q2T4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028061

SMART Domains

Protein: ENSMUSP00000028061
Gene: ENSMUSG00000026729

Domain	Start	End	E-Value	Type
low complexity region	60	73	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000060298

Predicted Effect

probably damaging
Transcript: ENSMUST00000097513
AA Change: L88P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137410
Gene: ENSMUSG00000090394
AA Change: L88P

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163892

SMART Domains

Protein: ENSMUSP00000127485
Gene: ENSMUSG00000090394

Domain	Start	End	E-Value	Type
transmembrane domain	24	46	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169600

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	A	3: 95,590,684 (GRCm39)	Q354*	probably null	Het
Aox3	A	C	1: 58,222,645 (GRCm39)	D1146A	probably damaging	Het
Ap2a1	T	A	7: 44,555,850 (GRCm39)	H340L	probably damaging	Het
Ccni	G	T	5: 93,335,636 (GRCm39)	F167L	probably benign	Het
Ctcf	A	G	8: 106,391,013 (GRCm39)	T207A	probably benign	Het
D930020B18Rik	A	G	10: 121,525,838 (GRCm39)	H580R	possibly damaging	Het
Dnaaf6rt	A	G	1: 31,262,177 (GRCm39)	D53G	probably damaging	Het
Dock3	A	T	9: 106,939,271 (GRCm39)	L159Q	probably damaging	Het
Dync1i2	T	C	2: 71,093,095 (GRCm39)	I630T	possibly damaging	Het
Fchsd2	A	G	7: 100,847,715 (GRCm39)	T202A	probably benign	Het
Gdi2	A	G	13: 3,607,009 (GRCm39)	Y214C	probably damaging	Het
Gna14	T	A	19: 16,511,090 (GRCm39)	S46R	probably damaging	Het
Hfm1	A	G	5: 107,043,153 (GRCm39)	I627T	probably damaging	Het
Ighv1-19	G	A	12: 114,672,359 (GRCm39)	A87V	probably damaging	Het
Itch	G	A	2: 155,014,506 (GRCm39)		probably null	Het
Klrb1b	T	C	6: 128,797,272 (GRCm39)	Q72R	possibly damaging	Het
Lrpprc	A	G	17: 85,082,853 (GRCm39)	F144L	probably benign	Het
Lrrc7	A	G	3: 157,891,011 (GRCm39)		probably benign	Het
Ndufa11	T	A	17: 57,028,338 (GRCm39)	F72L	probably damaging	Het
Neu1	T	A	17: 35,150,477 (GRCm39)	V32E	probably benign	Het
Or5k17	T	A	16: 58,746,833 (GRCm39)	I34F	possibly damaging	Het
Osmr	T	C	15: 6,853,060 (GRCm39)	K611E	probably damaging	Het
Pcdh20	A	G	14: 88,706,280 (GRCm39)	V340A	possibly damaging	Het
Plxna2	T	A	1: 194,468,998 (GRCm39)		probably benign	Het
Pou6f1	C	T	15: 100,481,306 (GRCm39)	W210*	probably null	Het
Ppat	A	G	5: 77,063,079 (GRCm39)	Y511H	probably damaging	Het
Psme4	T	G	11: 30,791,586 (GRCm39)	V1147G	possibly damaging	Het
Scap	C	T	9: 110,207,758 (GRCm39)	T489I	probably benign	Het
Sptb	A	G	12: 76,654,754 (GRCm39)		probably null	Het
Tcl1b5	T	A	12: 105,146,296 (GRCm39)		probably benign	Het
Trim54	T	A	5: 31,289,509 (GRCm39)		probably benign	Het
Unc13c	C	T	9: 73,388,357 (GRCm39)	R2143Q	probably damaging	Het
Vmn1r56	A	T	7: 5,199,113 (GRCm39)	V168D	probably benign	Het
Vmn2r66	A	T	7: 84,655,798 (GRCm39)	M406K	possibly damaging	Het

Other mutations in 4930523C07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1023:4930523C07Rik	UTSW	1	159,905,057 (GRCm39)	unclassified	probably benign
R1707:4930523C07Rik	UTSW	1	159,898,372 (GRCm39)	unclassified	probably benign
R2128:4930523C07Rik	UTSW	1	159,902,945 (GRCm39)	nonsense	probably null
R2129:4930523C07Rik	UTSW	1	159,902,945 (GRCm39)	nonsense	probably null
R2147:4930523C07Rik	UTSW	1	159,903,003 (GRCm39)	missense	probably benign	0.04
R4135:4930523C07Rik	UTSW	1	159,905,092 (GRCm39)	unclassified	probably benign
R4418:4930523C07Rik	UTSW	1	159,872,372 (GRCm39)	unclassified	noncoding transcript
R4431:4930523C07Rik	UTSW	1	159,872,149 (GRCm39)	unclassified	noncoding transcript
R5222:4930523C07Rik	UTSW	1	159,872,178 (GRCm39)	unclassified	noncoding transcript
R6170:4930523C07Rik	UTSW	1	159,902,743 (GRCm39)	missense	possibly damaging	0.82
R6248:4930523C07Rik	UTSW	1	159,902,978 (GRCm39)	missense	possibly damaging	0.83
R6612:4930523C07Rik	UTSW	1	159,902,804 (GRCm39)	missense	probably damaging	0.97
R7015:4930523C07Rik	UTSW	1	159,902,738 (GRCm39)	missense	possibly damaging	0.66
R8057:4930523C07Rik	UTSW	1	159,902,826 (GRCm39)	missense	probably damaging	0.97
R9464:4930523C07Rik	UTSW	1	159,902,865 (GRCm39)	missense	possibly damaging	0.66

Posted On

2015-04-16