Mutagenetix > Incidental Mutation

Incidental Mutation 'R4234:Ajuba'

321027

Institutional Source

Beutler Lab

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 #

R4234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54804929-54815015 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54806983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 490 (R490G)

Ref Sequence

ENSEMBL: ENSMUSP00000056977 (fasta)

Gene Model

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

AlphaFold

Q91XC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000054487
AA Change: R490G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056977
Gene: ENSMUSG00000022178
AA Change: R490G

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

Meta Mutation Damage Score

0.7971

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Ahnak	A	T	19: 8,978,150 (GRCm39)	K90*	probably null	Het
Akap6	T	A	12: 53,186,454 (GRCm39)	N1289K	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Ap3s1	A	T	18: 46,912,267 (GRCm39)	T96S	probably benign	Het
Arhgap21	A	G	2: 20,891,948 (GRCm39)	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Aspg	T	A	12: 112,089,750 (GRCm39)	Y429*	probably null	Het
Atg14	T	C	14: 47,788,802 (GRCm39)	K184E	probably benign	Het
BC034090	C	T	1: 155,117,326 (GRCm39)	G264D	probably benign	Het
Casp8	T	C	1: 58,883,929 (GRCm39)	V432A	probably damaging	Het
Cerk	T	C	15: 86,026,989 (GRCm39)	K174E	probably benign	Het
Col19a1	T	C	1: 24,354,476 (GRCm39)		probably null	Het
Cyp2c23	G	T	19: 44,017,604 (GRCm39)	T8K	unknown	Het
Ddx1	C	T	12: 13,273,858 (GRCm39)	V590I	possibly damaging	Het
Dok4	T	C	8: 95,592,292 (GRCm39)	E232G	probably damaging	Het
Dpf1	T	C	7: 29,015,057 (GRCm39)	S304P	probably damaging	Het
Dpyd	T	A	3: 119,225,233 (GRCm39)	I1002N	probably damaging	Het
Fam107b	T	C	2: 3,771,777 (GRCm39)	S3P	possibly damaging	Het
Gm1527	G	A	3: 28,968,515 (GRCm39)	G189D	probably damaging	Het
Hspa12b	T	C	2: 130,980,932 (GRCm39)	V162A	probably benign	Het
Lix1l	T	A	3: 96,530,973 (GRCm39)		probably null	Het
Mdc1	T	C	17: 36,159,716 (GRCm39)	C658R	probably benign	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Myh15	G	T	16: 48,983,405 (GRCm39)	V1507L	probably benign	Het
Nfe2l1	T	C	11: 96,710,735 (GRCm39)	D210G	probably damaging	Het
Notch3	T	A	17: 32,360,315 (GRCm39)	I1539F	probably damaging	Het
Pcdhac1	A	C	18: 37,224,011 (GRCm39)	S275R	probably damaging	Het
Pcdhga5	A	G	18: 37,829,001 (GRCm39)	D483G	possibly damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rbbp5	A	G	1: 132,412,496 (GRCm39)	T20A	probably benign	Het
Rere	T	C	4: 150,701,862 (GRCm39)	V1414A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr3	G	T	2: 112,740,752 (GRCm39)	N538K	probably damaging	Het
Serpina3j	C	A	12: 104,281,445 (GRCm39)	T206K	probably benign	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slc27a5	C	A	7: 12,722,370 (GRCm39)	C416F	probably benign	Het
Tas2r140	A	T	6: 133,031,915 (GRCm39)	V281D	probably damaging	Het
Tex30	A	T	1: 44,130,672 (GRCm39)	I32K	possibly damaging	Het
Trpc2	T	C	7: 101,737,342 (GRCm39)	I752T	possibly damaging	Het
Wnk2	A	G	13: 49,214,604 (GRCm39)	V1314A	probably benign	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
IGL02935:Ajuba	APN	14	54,807,924 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTGGACATAGGTCACTGCAG -3'
(R):5'- GCTAGCAAGTAAGGCTGAGC -3'

Sequencing Primer
(F):5'- GTCACTGCAGTGTCCTGG -3'
(R):5'- CTGGTAGGAGTTGCTTAAAAGATCTC -3'

Posted On

2015-06-12