Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01760:Gm6133'

153237

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm6133

Ensembl Gene

ENSMUSG00000090451

Gene Name

predicted gene 6133

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

IGL01760

Quality Score

Status

Chromosome

Chromosomal Location

78392974-78393602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78393390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 128 (R128Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164064]

AlphaFold

B2RY53

Predicted Effect

probably benign
Transcript: ENSMUST00000164064
AA Change: R128Q

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128489
Gene: ENSMUSG00000090451
AA Change: R128Q

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L22	17	151	3.4e-44	PFAM
low complexity region	167	179	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	A	8: 84,458,586 (GRCm39)	T147S	probably benign	Het
Chst3	A	T	10: 60,022,292 (GRCm39)	V185D	probably damaging	Het
Col14a1	A	C	15: 55,286,855 (GRCm39)	D892A	unknown	Het
Dop1a	A	G	9: 86,401,976 (GRCm39)	T1059A	probably benign	Het
Eif1ad3	A	T	12: 87,843,791 (GRCm39)		probably benign	Het
Erlec1	A	C	11: 30,884,731 (GRCm39)	S441A	probably benign	Het
Frmd4b	G	T	6: 97,285,663 (GRCm39)	T289N	probably damaging	Het
Gnai2	A	G	9: 107,493,717 (GRCm39)	S155P	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Hspg2	T	C	4: 137,239,982 (GRCm39)	S517P	possibly damaging	Het
Ighv9-1	C	A	12: 114,057,814 (GRCm39)	E29*	probably null	Het
Lrp1	T	C	10: 127,409,370 (GRCm39)	K1583R	probably benign	Het
Ltbp1	C	T	17: 75,534,145 (GRCm39)	T211M	probably damaging	Het
Mttp	A	G	3: 137,817,497 (GRCm39)	S418P	probably benign	Het
Napa	A	G	7: 15,832,669 (GRCm39)	N23S	possibly damaging	Het
Odf2	C	A	2: 29,804,472 (GRCm39)	Q347K	probably damaging	Het
Ogdhl	A	G	14: 32,061,894 (GRCm39)	D504G	probably damaging	Het
Or10aa1	T	C	1: 173,870,191 (GRCm39)	L225P	probably damaging	Het
Pdxdc1	A	T	16: 13,677,016 (GRCm39)	N273K	probably damaging	Het
Rslcan18	T	C	13: 67,262,015 (GRCm39)	I11V	probably benign	Het
Spidr	G	T	16: 15,730,424 (GRCm39)	R664S	possibly damaging	Het
Tead3	T	C	17: 28,552,055 (GRCm39)	N385S	probably benign	Het
Trim13	T	A	14: 61,843,172 (GRCm39)	N396K	probably benign	Het
Trp53bp2	C	T	1: 182,275,993 (GRCm39)	A160V	possibly damaging	Het
Vmn2r69	A	G	7: 85,056,072 (GRCm39)	S689P	possibly damaging	Het
Vmn2r79	A	T	7: 86,651,366 (GRCm39)	Q255L	probably benign	Het
Wsb1	T	C	11: 79,132,867 (GRCm39)	Y276C	probably damaging	Het
Zfp236	G	T	18: 82,639,547 (GRCm39)	N1233K	probably damaging	Het

Other mutations in Gm6133

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02193:Gm6133	APN	18	78,393,308 (GRCm39)	missense	probably benign	0.17
R0467:Gm6133	UTSW	18	78,393,305 (GRCm39)	missense	probably benign	0.41
R3900:Gm6133	UTSW	18	78,393,365 (GRCm39)	missense	probably benign	0.22
R5770:Gm6133	UTSW	18	78,393,464 (GRCm39)	missense	probably benign	0.10
R7481:Gm6133	UTSW	18	78,393,008 (GRCm39)	start codon destroyed	probably benign	0.13
R9036:Gm6133	UTSW	18	78,393,146 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-02-04