Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02935:Ajuba'

364269

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ajuba

Ensembl Gene

ENSMUSG00000022178

Gene Name

ajuba LIM protein

Synonyms

Jub

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02935

Quality Score

Status

Chromosome

Chromosomal Location

54804929-54815015 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54807924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 436 (F436S)

Ref Sequence

ENSEMBL: ENSMUSP00000056977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054487]

AlphaFold

Q91XC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000054487
AA Change: F436S

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

SMART Domains

Protein: ENSMUSP00000056977
Gene: ENSMUSG00000022178
AA Change: F436S

Domain	Start	End	E-Value	Type
low complexity region	41	58	N/A	INTRINSIC
low complexity region	125	148	N/A	INTRINSIC
low complexity region	150	165	N/A	INTRINSIC
low complexity region	201	214	N/A	INTRINSIC
low complexity region	248	259	N/A	INTRINSIC
low complexity region	300	309	N/A	INTRINSIC
LIM	346	399	1.41e-14	SMART
LIM	411	463	6.49e-14	SMART
LIM	471	532	2.89e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226463

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice are viable and reach adulthood without any obvious phenotypes, however mouse embryonic fibroblasts exhibit impaired cell migration and abnormal lamellipodia production in vitro. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	G	A	13: 54,709,675 (GRCm39)	P13L	possibly damaging	Het
A930016O22Rik	A	T	7: 19,154,338 (GRCm39)		probably benign	Het
Bptf	C	A	11: 106,971,625 (GRCm39)	A961S	probably damaging	Het
Brca1	A	G	11: 101,380,693 (GRCm39)	V1780A	probably benign	Het
Bub1	A	G	2: 127,643,215 (GRCm39)	L1043S	probably damaging	Het
Cngb3	T	A	4: 19,425,491 (GRCm39)	M433K	possibly damaging	Het
Col4a1	T	C	8: 11,269,166 (GRCm39)	D928G	probably damaging	Het
Colq	G	A	14: 31,257,591 (GRCm39)	P259S	probably damaging	Het
Csmd1	T	C	8: 16,273,348 (GRCm39)	Y828C	probably damaging	Het
Dennd5a	T	C	7: 109,520,514 (GRCm39)	R448G	possibly damaging	Het
Dip2c	A	G	13: 9,712,182 (GRCm39)	D1435G	probably damaging	Het
Dst	T	A	1: 34,225,926 (GRCm39)	L1188*	probably null	Het
Duox1	G	T	2: 122,155,000 (GRCm39)	G462C	possibly damaging	Het
Flcn	A	T	11: 59,686,062 (GRCm39)	I402N	possibly damaging	Het
Fuca2	G	A	10: 13,383,063 (GRCm39)	E344K	probably null	Het
Golim4	T	C	3: 75,802,299 (GRCm39)	H331R	possibly damaging	Het
Grid1	A	T	14: 34,544,515 (GRCm39)	I29F	possibly damaging	Het
Hltf	T	A	3: 20,123,215 (GRCm39)	F201Y	probably damaging	Het
Ipo8	A	T	6: 148,691,339 (GRCm39)	I677N	probably benign	Het
Meioc	A	G	11: 102,563,017 (GRCm39)	T72A	probably benign	Het
Meox2	A	T	12: 37,159,104 (GRCm39)	H92L	probably damaging	Het
Mlec	C	A	5: 115,295,873 (GRCm39)	R74L	probably benign	Het
Mrpl58	G	A	11: 115,301,054 (GRCm39)		probably benign	Het
Mtch1	T	C	17: 29,555,184 (GRCm39)	D288G	probably benign	Het
Myo16	A	G	8: 10,582,990 (GRCm39)	E1090G	probably benign	Het
Nicn1	A	G	9: 108,167,845 (GRCm39)	N39S	probably benign	Het
Nlrp9c	A	G	7: 26,084,701 (GRCm39)	S293P	probably benign	Het
Or2bd2	G	A	7: 6,443,753 (GRCm39)	V285M	possibly damaging	Het
Or51b4	T	C	7: 103,530,871 (GRCm39)	N193S	probably damaging	Het
Or5al1	G	T	2: 85,990,714 (GRCm39)		probably benign	Het
Pcdh20	T	A	14: 88,704,438 (GRCm39)		probably benign	Het
Peg3	C	A	7: 6,714,128 (GRCm39)	V365F	probably damaging	Het
Penk	A	G	4: 4,133,843 (GRCm39)	F268S	probably damaging	Het
Pitrm1	T	A	13: 6,603,300 (GRCm39)	Y116N	probably damaging	Het
Prex1	C	A	2: 166,412,265 (GRCm39)	G389C	probably damaging	Het
Ptch2	C	T	4: 116,971,967 (GRCm39)	A1163V	probably damaging	Het
Rasgrp3	G	A	17: 75,804,065 (GRCm39)	V123I	probably benign	Het
Slc36a2	G	T	11: 55,060,854 (GRCm39)	N185K	possibly damaging	Het
Sox9	G	T	11: 112,676,175 (GRCm39)	G455C	probably damaging	Het
St6galnac1	G	T	11: 116,660,171 (GRCm39)	D47E	probably benign	Het
Taar5	A	T	10: 23,847,415 (GRCm39)	D271V	probably damaging	Het
Top3a	A	T	11: 60,653,354 (GRCm39)	I85K	possibly damaging	Het
Ttll8	T	A	15: 88,798,759 (GRCm39)	M659L	probably benign	Het
Ythdc2	C	T	18: 44,988,112 (GRCm39)	R656C	probably damaging	Het

Other mutations in Ajuba

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Ajuba	APN	14	54,809,226 (GRCm39)	nonsense	probably null
R2281:Ajuba	UTSW	14	54,814,645 (GRCm39)	missense	probably damaging	1.00
R4231:Ajuba	UTSW	14	54,806,983 (GRCm39)	missense	probably damaging	0.99
R4232:Ajuba	UTSW	14	54,806,983 (GRCm39)	missense	probably damaging	0.99
R4233:Ajuba	UTSW	14	54,806,983 (GRCm39)	missense	probably damaging	0.99
R4234:Ajuba	UTSW	14	54,806,983 (GRCm39)	missense	probably damaging	0.99
R4236:Ajuba	UTSW	14	54,806,983 (GRCm39)	missense	probably damaging	0.99
R4924:Ajuba	UTSW	14	54,809,056 (GRCm39)	critical splice donor site	probably null
R5384:Ajuba	UTSW	14	54,807,855 (GRCm39)	missense	probably damaging	1.00
R5385:Ajuba	UTSW	14	54,807,855 (GRCm39)	missense	probably damaging	1.00
R5386:Ajuba	UTSW	14	54,807,855 (GRCm39)	missense	probably damaging	1.00
R7199:Ajuba	UTSW	14	54,810,915 (GRCm39)	nonsense	probably null
R7570:Ajuba	UTSW	14	54,813,859 (GRCm39)	missense	probably damaging	0.99
R8221:Ajuba	UTSW	14	54,807,847 (GRCm39)	missense	possibly damaging	0.93
R8901:Ajuba	UTSW	14	54,807,830 (GRCm39)	splice site	probably benign

Posted On

2015-12-18