Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02692:4930544G11Rik'

303787

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930544G11Rik

Ensembl Gene

ENSMUSG00000036463

Gene Name

RIKEN cDNA 4930544G11 gene

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.775) question?

Stock #

IGL02692

Quality Score

Status

Chromosome

Chromosomal Location

65929593-65930998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65929792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 9 (V9A)

Ref Sequence

ENSEMBL: ENSMUSP00000045487 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043382]

AlphaFold

Q9CR99

Predicted Effect

probably damaging
Transcript: ENSMUST00000043382
AA Change: V9A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045487
Gene: ENSMUSG00000036463
AA Change: V9A

Domain	Start	End	E-Value	Type
RHO	8	181	5.39e-125	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	C	10: 100,439,410 (GRCm39)	S72R	probably benign	Het
Actl11	A	G	9: 107,806,507 (GRCm39)	N277D	probably benign	Het
Adam2	T	A	14: 66,311,536 (GRCm39)	I57F	probably damaging	Het
Adgrf1	T	C	17: 43,614,669 (GRCm39)	F251S	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,089 (GRCm39)	I64V	probably benign	Het
Anapc4	T	C	5: 53,021,871 (GRCm39)	V651A	probably damaging	Het
Atl2	T	C	17: 80,172,482 (GRCm39)	N163D	probably benign	Het
B4galnt3	G	A	6: 120,187,272 (GRCm39)	R708C	probably damaging	Het
Capza2	C	T	6: 17,654,115 (GRCm39)	Q56*	probably null	Het
Cspg4	T	A	9: 56,794,738 (GRCm39)	H824Q	probably benign	Het
Dock7	G	A	4: 98,875,623 (GRCm39)	P1106S	probably damaging	Het
Fat4	A	G	3: 39,005,235 (GRCm39)	Y1878C	probably damaging	Het
Grk2	A	T	19: 4,340,716 (GRCm39)		probably benign	Het
Lmbrd2	G	A	15: 9,149,155 (GRCm39)	V13I	possibly damaging	Het
Loxhd1	G	T	18: 77,444,609 (GRCm39)	C336F	probably damaging	Het
Morc1	T	A	16: 48,330,596 (GRCm39)	F355L	probably null	Het
Mov10	C	A	3: 104,708,119 (GRCm39)	E503*	probably null	Het
Nt5dc3	T	A	10: 86,640,642 (GRCm39)		probably null	Het
Or2w3b	A	G	11: 58,623,343 (GRCm39)	V216A	probably benign	Het
Phf20	T	A	2: 156,140,498 (GRCm39)	M724K	probably damaging	Het
Pla2g2e	G	T	4: 138,609,870 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,880,989 (GRCm39)	V772E	probably damaging	Het
Rhoh	A	G	5: 66,050,143 (GRCm39)	R138G	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Septin7	A	G	9: 25,207,786 (GRCm39)		probably benign	Het
Serpina9	A	C	12: 103,974,665 (GRCm39)	F163V	probably damaging	Het
Slc2a13	A	T	15: 91,205,861 (GRCm39)	F442Y	probably benign	Het
Slc34a1	G	A	13: 55,551,049 (GRCm39)		probably benign	Het
Slc6a11	T	C	6: 114,139,100 (GRCm39)	F236S	probably damaging	Het
Usp1	A	G	4: 98,817,197 (GRCm39)	K130E	probably benign	Het
Zfp386	A	G	12: 116,022,855 (GRCm39)	E156G	probably damaging	Het
Zfp957	C	T	14: 79,450,825 (GRCm39)	V325I	unknown	Het

Other mutations in 4930544G11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00698:4930544G11Rik	APN	6	65,929,879 (GRCm39)	missense	probably damaging	1.00
IGL01071:4930544G11Rik	APN	6	65,930,137 (GRCm39)	missense	probably damaging	1.00
IGL02528:4930544G11Rik	APN	6	65,930,357 (GRCm39)	utr 3 prime	probably benign
IGL02655:4930544G11Rik	APN	6	65,930,074 (GRCm39)	missense	probably damaging	1.00
PIT4576001:4930544G11Rik	UTSW	6	65,929,983 (GRCm39)	missense	probably damaging	1.00
R2407:4930544G11Rik	UTSW	6	65,930,212 (GRCm39)	missense	probably benign	0.06
R7070:4930544G11Rik	UTSW	6	65,930,232 (GRCm39)	missense	probably damaging	0.98
R7203:4930544G11Rik	UTSW	6	65,930,317 (GRCm39)	missense	probably benign
R7910:4930544G11Rik	UTSW	6	65,930,289 (GRCm39)	missense	probably benign	0.01
R8462:4930544G11Rik	UTSW	6	65,930,074 (GRCm39)	missense	possibly damaging	0.78

Posted On

2015-04-16