Mutagenetix > Incidental Mutation

Incidental Mutation 'R4232:Ajuba'

320928

Institutional Source

Beutler Lab

Gene Symbol

Ajuba

Ensembl Gene

ENSMUSG00000022178

Gene Name

ajuba LIM protein

Synonyms

Jub

MMRRC Submission

041051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4232 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54567472-54577558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54569526 bp (GRCm38)

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: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

92% (58/63)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Akap6	T	A	12: 53,139,671	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,887,137	V161A	probably damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Aven	A	G	2: 112,627,768	D167G	probably damaging	Het
Celsr2	A	G	3: 108,413,772	F575L	probably benign	Het
Cflar	A	T	1: 58,740,993	Q249L	possibly damaging	Het
Col7a1	G	A	9: 108,972,813		probably null	Het
Dmxl2	T	C	9: 54,419,909	D944G	possibly damaging	Het
Dnah1	T	C	14: 31,304,916	N717S	probably benign	Het
Dnaja3	T	A	16: 4,699,871	N322K	possibly damaging	Het
Dnajb3	A	G	1: 88,205,252	S143P	possibly damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Dvl3	A	G	16: 20,524,233		probably benign	Het
Fam71b	C	A	11: 46,407,405	T512K	possibly damaging	Het
Fkbp7	A	T	2: 76,663,317	D177E	possibly damaging	Het
Galnt7	T	C	8: 57,652,966	I5V	probably benign	Het
Helz2	A	T	2: 181,229,902	L2639Q	probably damaging	Het
Hnrnpr	T	C	4: 136,339,189	M394T	probably benign	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Kif14	T	A	1: 136,516,363	C1364*	probably null	Het
Macf1	T	C	4: 123,432,392	E5104G	probably damaging	Het
Mkl1	T	A	15: 81,023,595	K29M	probably damaging	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mtbp	CATGA	CATGAATGA	15: 55,620,677		probably null	Het
Nfkb1	A	G	3: 135,603,770	V521A	probably damaging	Het
Olfr1535	T	C	13: 21,555,461	D187G	probably damaging	Het
Olfr850	G	T	9: 19,477,726	L175M	probably damaging	Het
P2rx6	T	C	16: 17,570,767	L335P	probably damaging	Het
Pcdhga5	A	G	18: 37,695,948	D483G	possibly damaging	Het
Pgpep1l	T	C	7: 68,237,079	T161A	probably benign	Het
Prss40	A	G	1: 34,560,792	V38A	probably benign	Het
Ptk2	C	A	15: 73,309,849	R104L	possibly damaging	Het
Ralgapa1	C	T	12: 55,640,644	R2019Q	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rtp4	A	G	16: 23,613,083	N122D	possibly damaging	Het
Samd8	A	G	14: 21,780,145	Y213C	probably benign	Het
Shcbp1	T	A	8: 4,736,372	T577S	probably benign	Het
Tiprl	A	G	1: 165,222,587	V153A	probably damaging	Het
Tmprss7	A	T	16: 45,656,573	D775E	probably damaging	Het
Tnr	T	C	1: 159,886,215	S738P	possibly damaging	Het
Tsc22d4	T	C	5: 137,751,370		probably null	Het
Ttc21a	A	T	9: 119,942,618	H161L	probably benign	Het
Ubqln3	T	A	7: 104,141,803	E360V	probably benign	Het
Ugt1a10	C	A	1: 88,056,210	D243E	probably benign	Het
Vmn2r19	G	A	6: 123,329,912	V460I	probably benign	Het
Vmn2r58	T	A	7: 41,837,587	Y628F	possibly damaging	Het
Wnk1	A	T	6: 119,949,261	S1588T	possibly damaging	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Zfp831	G	C	2: 174,705,654	W1543C	possibly damaging	Het

Other mutations in Ajuba

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Ajuba	APN	14	54571769	nonsense	probably null
IGL02935:Ajuba	APN	14	54570467	missense	probably damaging	1.00
R2281:Ajuba	UTSW	14	54577188	missense	probably damaging	1.00
R4231:Ajuba	UTSW	14	54569526	missense	probably damaging	0.99
R4233:Ajuba	UTSW	14	54569526	missense	probably damaging	0.99
R4234:Ajuba	UTSW	14	54569526	missense	probably damaging	0.99
R4236:Ajuba	UTSW	14	54569526	missense	probably damaging	0.99
R4924:Ajuba	UTSW	14	54571599	critical splice donor site	probably null
R5384:Ajuba	UTSW	14	54570398	missense	probably damaging	1.00
R5385:Ajuba	UTSW	14	54570398	missense	probably damaging	1.00
R5386:Ajuba	UTSW	14	54570398	missense	probably damaging	1.00
R7199:Ajuba	UTSW	14	54573458	nonsense	probably null
R7570:Ajuba	UTSW	14	54576402	missense	probably damaging	0.99
R8221:Ajuba	UTSW	14	54570390	missense	possibly damaging	0.93
R8901:Ajuba	UTSW	14	54570373	splice site	probably benign

Predicted Primers

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

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

Posted On

2015-06-12