Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03336:4933412E24Rik'

417048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933412E24Rik

Ensembl Gene

ENSMUSG00000071749

Gene Name

RIKEN cDNA 4933412E24 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL03336

Quality Score

Status

Chromosome

Chromosomal Location

59886715-59888462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59888251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 63 (V63A)

Ref Sequence

ENSEMBL: ENSMUSP00000094154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096421]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096421
AA Change: V63A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000094154
Gene: ENSMUSG00000071749
AA Change: V63A

Domain	Start	End	E-Value	Type
Pfam:DUF4641	79	509	5.4e-189	PFAM

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
Ankrd11	A	G	8: 123,618,582 (GRCm39)	S1757P	probably benign	Het
Atp8a1	G	T	5: 67,887,150 (GRCm39)	Y629*	probably null	Het
Cenpf	T	C	1: 189,384,844 (GRCm39)	K2479E	probably damaging	Het
Clip1	G	T	5: 123,791,633 (GRCm39)	S179*	probably null	Het
Cmya5	A	G	13: 93,230,013 (GRCm39)	S1692P	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,474 (GRCm39)	S119G	probably benign	Het
Fndc5	T	C	4: 129,033,711 (GRCm39)	F160L	probably benign	Het
Muc5b	T	C	7: 141,418,100 (GRCm39)	V3682A	probably damaging	Het
Myh8	G	T	11: 67,175,528 (GRCm39)	D328Y	probably damaging	Het
Or10a5	T	A	7: 106,635,542 (GRCm39)	M60K	probably damaging	Het
Or4c121	T	C	2: 89,024,241 (GRCm39)	T46A	probably benign	Het
Or51f1	C	T	7: 102,505,823 (GRCm39)	C222Y	probably benign	Het
Or51k2	T	C	7: 103,596,616 (GRCm39)	L281P	probably damaging	Het
Or6c203	T	C	10: 129,010,098 (GRCm39)	E264G	probably benign	Het
Paxbp1	T	C	16: 90,831,060 (GRCm39)	I439V	probably benign	Het
Pcdhb3	T	C	18: 37,436,014 (GRCm39)	V660A	possibly damaging	Het
Pcyt2	T	C	11: 120,506,758 (GRCm39)	D32G	probably damaging	Het
Pdzph1	A	T	17: 59,281,229 (GRCm39)	V351D	probably benign	Het
Ribc2	C	T	15: 85,017,114 (GRCm39)	Q51*	probably null	Het
Scn2a	A	G	2: 65,519,088 (GRCm39)	E438G	probably damaging	Het
Slc18a3	T	C	14: 32,184,785 (GRCm39)		probably benign	Het
Slc5a1	G	A	5: 33,304,287 (GRCm39)	V296I	probably benign	Het
Slit3	A	T	11: 35,560,928 (GRCm39)	T958S	probably damaging	Het
Spag8	C	T	4: 43,652,114 (GRCm39)		probably benign	Het
Susd3	A	C	13: 49,392,258 (GRCm39)	S144R	probably benign	Het
Synpo2	T	C	3: 122,907,828 (GRCm39)	E496G	possibly damaging	Het
Tbcel	T	C	9: 42,350,427 (GRCm39)	T269A	probably benign	Het
Tmem156	A	G	5: 65,233,107 (GRCm39)	Y152H	probably benign	Het
Tmem247	A	G	17: 87,225,857 (GRCm39)	E99G	probably damaging	Het
Tuba3b	A	G	6: 145,565,450 (GRCm39)	D306G	possibly damaging	Het
Vps13c	T	A	9: 67,858,924 (GRCm39)	D2791E	possibly damaging	Het
Ypel4	A	G	2: 84,567,871 (GRCm39)	Y98C	probably damaging	Het

Other mutations in 4933412E24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:4933412E24Rik	APN	15	59,887,424 (GRCm39)	missense	possibly damaging	0.82
IGL02078:4933412E24Rik	APN	15	59,888,179 (GRCm39)	missense	probably benign	0.02
IGL02493:4933412E24Rik	APN	15	59,888,312 (GRCm39)	missense	probably benign	0.00
R0466:4933412E24Rik	UTSW	15	59,887,321 (GRCm39)	missense	probably benign	0.00
R0961:4933412E24Rik	UTSW	15	59,887,160 (GRCm39)	missense	probably benign	0.36
R1765:4933412E24Rik	UTSW	15	59,887,194 (GRCm39)	nonsense	probably null
R2341:4933412E24Rik	UTSW	15	59,888,212 (GRCm39)	missense	possibly damaging	0.85
R2440:4933412E24Rik	UTSW	15	59,888,129 (GRCm39)	missense	probably benign
R3162:4933412E24Rik	UTSW	15	59,888,134 (GRCm39)	missense	probably damaging	1.00
R3162:4933412E24Rik	UTSW	15	59,888,134 (GRCm39)	missense	probably damaging	1.00
R4039:4933412E24Rik	UTSW	15	59,888,215 (GRCm39)	missense	possibly damaging	0.95
R4416:4933412E24Rik	UTSW	15	59,888,272 (GRCm39)	missense	possibly damaging	0.88
R4868:4933412E24Rik	UTSW	15	59,887,817 (GRCm39)	missense	possibly damaging	0.50
R4907:4933412E24Rik	UTSW	15	59,887,957 (GRCm39)	missense	probably benign	0.00
R5462:4933412E24Rik	UTSW	15	59,886,917 (GRCm39)	missense	probably benign	0.09
R7275:4933412E24Rik	UTSW	15	59,887,738 (GRCm39)	missense	probably benign	0.32
R7842:4933412E24Rik	UTSW	15	59,888,422 (GRCm39)	missense	probably damaging	1.00
R8261:4933412E24Rik	UTSW	15	59,888,425 (GRCm39)	missense	probably benign	0.44
R8297:4933412E24Rik	UTSW	15	59,887,524 (GRCm39)	missense	probably damaging	1.00
R8378:4933412E24Rik	UTSW	15	59,886,967 (GRCm39)	missense	probably damaging	0.99
R8808:4933412E24Rik	UTSW	15	59,887,919 (GRCm39)	missense	probably benign	0.00
X0052:4933412E24Rik	UTSW	15	59,888,375 (GRCm39)	missense	possibly damaging	0.90

Posted On

2016-08-02