Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01647:4930402F06Rik'

102701

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 #

IGL01647

Quality Score

Status

Chromosome

Chromosomal Location

35265574-35287187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35266097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 191 (D191V)

Ref Sequence

ENSEMBL: ENSMUSP00000108633 (fasta)

Gene Model

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

AlphaFold

A2AUQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000113009
AA Change: D160V

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

SMART Domains

Protein: ENSMUSP00000108632
Gene: ENSMUSG00000079421
AA Change: D160V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113010
AA Change: D191V

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

SMART Domains

Protein: ENSMUSP00000108633
Gene: ENSMUSG00000079421
AA Change: D191V

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	T	C	15: 98,498,156 (GRCm39)	D382G	probably damaging	Het
Arhgef33	A	T	17: 80,672,695 (GRCm39)		probably benign	Het
Armc10	A	G	5: 21,851,091 (GRCm39)		probably benign	Het
Bcas1	T	A	2: 170,191,172 (GRCm39)	Q586L	probably damaging	Het
Bltp3b	T	C	10: 89,609,982 (GRCm39)		probably null	Het
Ccdc88a	A	C	11: 29,454,321 (GRCm39)		probably benign	Het
Cep250	T	A	2: 155,825,296 (GRCm39)	C1057S	probably benign	Het
Ctsm	A	T	13: 61,688,087 (GRCm39)	M14K	probably benign	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Frem1	A	G	4: 82,868,593 (GRCm39)	Y1463H	possibly damaging	Het
Garin3	G	T	11: 46,296,224 (GRCm39)	E199*	probably null	Het
Gck	A	T	11: 5,854,472 (GRCm39)	M251K	probably damaging	Het
Gzf1	C	T	2: 148,525,570 (GRCm39)	P14S	probably damaging	Het
Iws1	A	T	18: 32,230,275 (GRCm39)	K748*	probably null	Het
Kif15	T	A	9: 122,792,536 (GRCm39)		probably benign	Het
Ly6g6f	A	G	17: 35,299,817 (GRCm39)		probably benign	Het
Mrps30	C	T	13: 118,517,146 (GRCm39)	G358R	probably damaging	Het
Nfrkb	T	A	9: 31,307,801 (GRCm39)		probably benign	Het
Or5m3b	C	T	2: 85,872,441 (GRCm39)	P261S	probably damaging	Het
Pakap	A	T	4: 57,688,477 (GRCm39)	I107F	possibly damaging	Het
Pcnt	T	A	10: 76,205,835 (GRCm39)	K2506*	probably null	Het
Pgc	G	T	17: 48,043,329 (GRCm39)	G226W	probably damaging	Het
Pip5k1a	C	T	3: 94,981,383 (GRCm39)	V82M	probably damaging	Het
Plk3	A	G	4: 116,987,554 (GRCm39)	V466A	probably damaging	Het
Prss44	C	A	9: 110,643,745 (GRCm39)	Q130K	probably damaging	Het
Rbck1	T	C	2: 152,165,152 (GRCm39)	Y66C	probably damaging	Het
Rbm6	T	C	9: 107,730,081 (GRCm39)	E189G	probably benign	Het
Rtn4r	G	T	16: 17,969,190 (GRCm39)	R206L	probably damaging	Het
Ryr2	C	T	13: 11,600,366 (GRCm39)	G4613E	probably damaging	Het
Sema5a	T	G	15: 32,417,587 (GRCm39)	L19R	possibly damaging	Het
Slc30a5	T	C	13: 100,957,653 (GRCm39)	T139A	possibly damaging	Het
Slco2a1	T	G	9: 102,947,495 (GRCm39)	S265A	possibly damaging	Het
Smad4	A	G	18: 73,773,544 (GRCm39)		probably benign	Het
St13	C	T	15: 81,255,708 (GRCm39)	R240Q	probably damaging	Het
Tcea3	A	C	4: 136,002,087 (GRCm39)		probably benign	Het
Vmn1r177	T	C	7: 23,565,600 (GRCm39)	Y92C	probably damaging	Het
Wnt8b	A	T	19: 44,499,704 (GRCm39)	D151V	probably damaging	Het
Zfp426	T	A	9: 20,389,453 (GRCm39)	M1L	possibly damaging	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
IGL01927:4930402F06Rik	APN	2	35,266,026 (GRCm39)	missense	probably damaging	1.00
IGL02315:4930402F06Rik	APN	2	35,266,185 (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

2014-01-21