Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02315:4930402F06Rik'

287991

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930402F06Rik

Ensembl Gene

ENSMUSG00000079421

Gene Name

RIKEN cDNA 4930402F06 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02315

Quality Score

Status

Chromosome

Chromosomal Location

35265574-35287187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35266185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 162 (I162F)

Ref Sequence

ENSEMBL: ENSMUSP00000108633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113009] [ENSMUST00000113010]

AlphaFold

A2AUQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000113009
AA Change: I131F

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108632
Gene: ENSMUSG00000079421
AA Change: I131F

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	4	299	4.7e-130	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113010
AA Change: I162F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108633
Gene: ENSMUSG00000079421
AA Change: I162F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Glyco_transf_6	37	330	1.2e-124	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	T	C	17: 32,524,475 (GRCm39)	D607G	probably benign	Het
Ap2b1	G	A	11: 83,227,625 (GRCm39)	V327I	probably damaging	Het
Bmpr1b	A	G	3: 141,563,290 (GRCm39)	V218A	probably damaging	Het
Cfap157	T	A	2: 32,668,177 (GRCm39)	D421V	probably benign	Het
Ctsm	A	G	13: 61,687,462 (GRCm39)	V100A	probably benign	Het
Cwf19l2	C	T	9: 3,410,030 (GRCm39)	T53I	probably damaging	Het
Dst	T	C	1: 34,237,746 (GRCm39)	C3663R	probably damaging	Het
Fbxo10	T	A	4: 45,062,469 (GRCm39)	H19L	probably benign	Het
Ghitm	A	T	14: 36,853,521 (GRCm39)	N106K	probably benign	Het
Hivep2	T	C	10: 14,006,983 (GRCm39)	F1194L	probably benign	Het
Hpse2	A	G	19: 42,955,386 (GRCm39)		probably benign	Het
Ighv1-67	C	T	12: 115,567,687 (GRCm39)	G56D	probably benign	Het
Ikzf4	A	G	10: 128,470,014 (GRCm39)	F502S	probably damaging	Het
Lrrc24	A	T	15: 76,602,506 (GRCm39)	F126L	probably damaging	Het
Mapt	G	A	11: 104,218,904 (GRCm39)	R355Q	probably damaging	Het
Mug1	T	A	6: 121,817,126 (GRCm39)	V65E	probably benign	Het
Myh6	T	C	14: 55,191,291 (GRCm39)	E850G	probably damaging	Het
Myh9	C	A	15: 77,654,173 (GRCm39)	V1211L	probably benign	Het
Naip2	T	A	13: 100,297,744 (GRCm39)	D764V	probably damaging	Het
Or8d2b	G	A	9: 38,789,353 (GRCm39)	V294I	probably damaging	Het
Parp6	A	G	9: 59,549,021 (GRCm39)		probably benign	Het
Ppp4r4	C	T	12: 103,566,620 (GRCm39)		probably benign	Het
Pramel11	T	C	4: 143,624,498 (GRCm39)		probably benign	Het
Pxylp1	A	G	9: 96,721,196 (GRCm39)	L56P	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Skida1	T	C	2: 18,050,816 (GRCm39)		probably benign	Het
Slc35d2	A	G	13: 64,254,849 (GRCm39)	S210P	possibly damaging	Het
Slit2	C	T	5: 48,145,213 (GRCm39)	T71M	probably damaging	Het
Spem2	A	T	11: 69,708,191 (GRCm39)	L258Q	probably damaging	Het
Stxbp2	C	T	8: 3,685,607 (GRCm39)		probably benign	Het
Vit	G	A	17: 78,930,087 (GRCm39)	V351I	possibly damaging	Het
Zwilch	A	G	9: 64,057,549 (GRCm39)	S285P	probably damaging	Het
Zzef1	A	T	11: 72,766,083 (GRCm39)	R1537*	probably null	Het

Other mutations in 4930402F06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:4930402F06Rik	APN	2	35,265,851 (GRCm39)	missense	probably benign	0.05
IGL00805:4930402F06Rik	APN	2	35,270,422 (GRCm39)	missense	probably damaging	1.00
IGL01647:4930402F06Rik	APN	2	35,266,097 (GRCm39)	missense	probably damaging	1.00
IGL01927:4930402F06Rik	APN	2	35,266,026 (GRCm39)	missense	probably damaging	1.00
IGL02563:4930402F06Rik	APN	2	35,270,410 (GRCm39)	missense	probably damaging	1.00
IGL02655:4930402F06Rik	APN	2	35,270,498 (GRCm39)	missense	possibly damaging	0.70
IGL03341:4930402F06Rik	APN	2	35,265,906 (GRCm39)	missense	possibly damaging	0.76
R0102:4930402F06Rik	UTSW	2	35,265,795 (GRCm39)	nonsense	probably null
R0102:4930402F06Rik	UTSW	2	35,265,795 (GRCm39)	nonsense	probably null
R0309:4930402F06Rik	UTSW	2	35,266,271 (GRCm39)	missense	possibly damaging	0.90
R0556:4930402F06Rik	UTSW	2	35,280,482 (GRCm39)	splice site	probably benign
R2089:4930402F06Rik	UTSW	2	35,266,079 (GRCm39)	missense	probably benign	0.00
R2091:4930402F06Rik	UTSW	2	35,266,079 (GRCm39)	missense	probably benign	0.00
R2091:4930402F06Rik	UTSW	2	35,266,079 (GRCm39)	missense	probably benign	0.00
R2158:4930402F06Rik	UTSW	2	35,275,680 (GRCm39)	missense	possibly damaging	0.94
R4027:4930402F06Rik	UTSW	2	35,270,408 (GRCm39)	missense	probably damaging	1.00
R4897:4930402F06Rik	UTSW	2	35,266,309 (GRCm39)	missense	probably damaging	1.00
R7755:4930402F06Rik	UTSW	2	35,266,349 (GRCm39)	missense	probably damaging	1.00
R8129:4930402F06Rik	UTSW	2	35,266,187 (GRCm39)	missense	probably damaging	1.00
R8143:4930402F06Rik	UTSW	2	35,265,884 (GRCm39)	missense	probably damaging	1.00
R8309:4930402F06Rik	UTSW	2	35,279,599 (GRCm39)	missense	possibly damaging	0.67
R8550:4930402F06Rik	UTSW	2	35,265,786 (GRCm39)	nonsense	probably null
X0024:4930402F06Rik	UTSW	2	35,279,617 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16