Mutagenetix > Incidental Mutation

Incidental Mutation 'R5385:Ajuba'

425134

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 #

R5385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54567472-54577558 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54570398 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 459 (Y459C)

Ref Sequence

ENSEMBL: ENSMUSP00000056977 (fasta)

Gene Model

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

AlphaFold

Q91XC0

Predicted Effect

probably damaging
Transcript: ENSMUST00000054487
AA Change: Y459C

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

SMART Domains

Protein: ENSMUSP00000056977
Gene: ENSMUSG00000022178
AA Change: Y459C

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

probably damaging
Transcript: ENSMUST00000054487
AA Change: Y459C

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

SMART Domains

Protein: ENSMUSP00000056977
Gene: ENSMUSG00000022178
AA Change: Y459C

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

1x: 99.3%
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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,585,612 (GRCm38)	T175A	probably benign	Het
Adam23	A	G	1: 63,551,811 (GRCm38)	D479G	possibly damaging	Het
Adgrl3	T	G	5: 81,726,801 (GRCm38)	Y1050D	probably damaging	Het
Ago4	A	G	4: 126,517,556 (GRCm38)	I103T	probably benign	Het
Aldh7a1	T	A	18: 56,534,253 (GRCm38)	N316Y	possibly damaging	Het
Alyref2	A	G	1: 171,503,703 (GRCm38)	N16S	probably benign	Het
Ankhd1	A	G	18: 36,591,495 (GRCm38)	E402G	probably damaging	Het
Ankrd36	A	G	11: 5,689,340 (GRCm38)		probably benign	Het
Ap2b1	T	C	11: 83,342,601 (GRCm38)	V480A	probably damaging	Het
Arhgap30	A	G	1: 171,408,280 (GRCm38)	R741G	probably benign	Het
Canx	A	G	11: 50,301,812 (GRCm38)	L325P	probably damaging	Het
Ccpg1	G	A	9: 73,013,044 (GRCm38)	S647N	probably benign	Het
Cdc37l1	T	G	19: 29,011,943 (GRCm38)	S267A	possibly damaging	Het
Ces1f	A	T	8: 93,265,760 (GRCm38)	C354*	probably null	Het
Col4a3bp	A	G	13: 96,629,067 (GRCm38)	T447A	possibly damaging	Het
Cpne1	A	T	2: 156,074,364 (GRCm38)	V350D	probably damaging	Het
Ctdsp2	A	G	10: 126,996,457 (GRCm38)	T262A	probably benign	Het
Cypt4	A	G	9: 24,625,300 (GRCm38)	K29E	possibly damaging	Het
Dlg2	T	C	7: 92,088,576 (GRCm38)	V422A	probably damaging	Het
Dmxl2	A	G	9: 54,378,757 (GRCm38)	S2715P	probably benign	Het
Dnah3	T	A	7: 119,924,903 (GRCm38)	K3953N	probably damaging	Het
Dnmt1	A	G	9: 20,918,480 (GRCm38)	V647A	probably damaging	Het
Duox2	A	G	2: 122,295,136 (GRCm38)	V330A	probably benign	Het
Dusp8	T	A	7: 142,089,993 (GRCm38)	Q61L	possibly damaging	Het
Dync2h1	T	C	9: 7,016,791 (GRCm38)	D3573G	probably damaging	Het
Ears2	G	C	7: 122,044,377 (GRCm38)	T426S	probably benign	Het
Ext1	C	A	15: 53,075,817 (GRCm38)	W612L	probably damaging	Het
Fam91a1	G	A	15: 58,448,394 (GRCm38)	S645N	probably benign	Het
Fat3	A	T	9: 15,922,675 (GRCm38)	L4207Q	possibly damaging	Het
Fbxo38	A	G	18: 62,540,971 (GRCm38)	M13T	probably benign	Het
Fbxo48	G	T	11: 16,954,329 (GRCm38)	L160F	possibly damaging	Het
Fer1l4	G	A	2: 156,037,366 (GRCm38)	Q906*	probably null	Het
Fpr2	C	A	17: 17,893,047 (GRCm38)	H102N	probably benign	Het
Gm10134	T	A	2: 28,506,360 (GRCm38)		probably benign	Het
Gm14085	C	A	2: 122,522,778 (GRCm38)	L480I	probably benign	Het
Gpr107	A	G	2: 31,214,251 (GRCm38)	T523A	probably benign	Het
Grin3a	G	A	4: 49,719,313 (GRCm38)	P811L	probably damaging	Het
Hivep1	A	T	13: 42,164,395 (GRCm38)		probably null	Het
Hmcn2	A	G	2: 31,460,321 (GRCm38)	T5077A	probably benign	Het
Hpse	C	T	5: 100,708,724 (GRCm38)	W136*	probably null	Het
Ifitm3	T	C	7: 141,010,641 (GRCm38)	N2S	probably benign	Het
Ifnar2	T	A	16: 91,404,198 (GRCm38)	D442E	possibly damaging	Het
Jade1	T	A	3: 41,591,702 (GRCm38)	I54N	probably damaging	Het
Jag1	A	T	2: 137,095,544 (GRCm38)	H303Q	possibly damaging	Het
Kcnh4	T	C	11: 100,752,250 (GRCm38)	D397G	probably damaging	Het
Kcnj1	A	G	9: 32,396,723 (GRCm38)	R148G	probably damaging	Het
Lct	T	G	1: 128,311,617 (GRCm38)	K277N	possibly damaging	Het
Loxl3	A	G	6: 83,050,612 (GRCm38)	M712V	probably damaging	Het
Ly75	A	G	2: 60,303,641 (GRCm38)	C1547R	probably damaging	Het
Marcks	A	G	10: 37,138,457 (GRCm38)	S27P	probably damaging	Het
Mef2c	A	G	13: 83,662,413 (GRCm38)	T347A	probably benign	Het
Mmp3	C	T	9: 7,451,759 (GRCm38)	R366*	probably null	Het
Mrgprx2	T	C	7: 48,483,005 (GRCm38)	T22A	probably benign	Het
Msc	C	A	1: 14,755,420 (GRCm38)	R110L	probably damaging	Het
Myh11	A	T	16: 14,208,008 (GRCm38)	V1366D	possibly damaging	Het
Ncf1	A	G	5: 134,221,805 (GRCm38)	L373P	probably damaging	Het
Neb	A	T	2: 52,189,861 (GRCm38)	I85N	probably damaging	Het
Nfkb1	A	G	3: 135,612,542 (GRCm38)	V310A	possibly damaging	Het
Nop2	T	C	6: 125,144,361 (GRCm38)	V702A	probably benign	Het
Nudt12	A	G	17: 59,003,439 (GRCm38)	W390R	probably damaging	Het
Olfr1115	C	T	2: 87,252,483 (GRCm38)	P182L	probably benign	Het
Olfr1418	T	A	19: 11,855,177 (GRCm38)	I259F	probably damaging	Het
Olfr160	A	T	9: 37,712,021 (GRCm38)	V86E	probably damaging	Het
Olfr251	A	T	9: 38,377,985 (GRCm38)	I29F	probably benign	Het
Olfr366	G	T	2: 37,219,587 (GRCm38)	A33S	possibly damaging	Het
Olfr430	A	T	1: 174,069,470 (GRCm38)	K57N	probably benign	Het
Olfr558	T	C	7: 102,709,346 (GRCm38)	L29P	probably damaging	Het
Olfr739	T	A	14: 50,425,389 (GRCm38)	V290E	possibly damaging	Het
Olfr784	A	G	10: 129,387,764 (GRCm38)	I44V	probably benign	Het
Olfr971	A	G	9: 39,839,830 (GRCm38)	Y132C	possibly damaging	Het
Otub2	G	A	12: 103,392,796 (GRCm38)		probably benign	Het
Pck2	A	G	14: 55,545,231 (GRCm38)	E339G	probably damaging	Het
Pdcd7	G	A	9: 65,358,692 (GRCm38)	W477*	probably null	Het
Pdpk1	G	A	17: 24,098,140 (GRCm38)	Q250*	probably null	Het
Pigb	T	A	9: 73,039,545 (GRCm38)	H16L	probably benign	Het
Pitpnm1	T	C	19: 4,103,435 (GRCm38)	F197S	probably damaging	Het
Plekhh2	T	C	17: 84,557,466 (GRCm38)	V94A	probably benign	Het
Pnpla7	C	A	2: 25,041,019 (GRCm38)	P882Q	probably damaging	Het
Pold2	A	G	11: 5,876,760 (GRCm38)	L58P	probably damaging	Het
Pomt1	C	G	2: 32,244,299 (GRCm38)	Y277*	probably null	Het
Prex2	A	G	1: 11,139,980 (GRCm38)	D548G	probably damaging	Het
Prkra	T	G	2: 76,639,278 (GRCm38)	T146P	probably damaging	Het
Prss51	T	A	14: 64,097,094 (GRCm38)	V108E	probably damaging	Het
Rai2	A	G	X: 161,778,640 (GRCm38)	N363S	probably benign	Het
Ranbp17	A	T	11: 33,219,241 (GRCm38)	V991D	possibly damaging	Het
Riox2	T	A	16: 59,486,616 (GRCm38)	M290K	probably benign	Het
Rnpepl1	T	A	1: 92,917,192 (GRCm38)	L402Q	probably damaging	Het
S1pr2	T	C	9: 20,967,594 (GRCm38)	T313A	probably benign	Het
Sesn2	A	G	4: 132,499,264 (GRCm38)	I173T	probably damaging	Het
Setx	T	G	2: 29,134,033 (GRCm38)		probably null	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382 (GRCm38)		probably benign	Het
Sgsm3	T	C	15: 81,007,999 (GRCm38)	V256A	probably benign	Het
Shroom4	T	A	X: 6,585,469 (GRCm38)	C894*	probably null	Het
Slc13a5	T	A	11: 72,259,077 (GRCm38)	E159D	probably benign	Het
Slc16a7	A	G	10: 125,294,604 (GRCm38)	Y71H	possibly damaging	Het
Slc4a7	T	C	14: 14,773,345 (GRCm38)	F772L	possibly damaging	Het
Snapc4	A	G	2: 26,374,503 (GRCm38)	S275P	probably benign	Het
Soga3	A	G	10: 29,196,770 (GRCm38)	D686G	probably benign	Het
Sorl1	T	C	9: 42,057,284 (GRCm38)	T558A	possibly damaging	Het
Sspo	C	T	6: 48,462,253 (GRCm38)	P1612S	probably benign	Het
Stard9	A	G	2: 120,700,630 (GRCm38)	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,815,403 (GRCm38)	D16E	probably benign	Het
Supv3l1	A	T	10: 62,430,596 (GRCm38)	N600K	possibly damaging	Het
Syne1	C	T	10: 5,041,494 (GRCm38)	V557I	probably benign	Het
Tanc2	T	A	11: 105,776,846 (GRCm38)	D84E	probably damaging	Het
Tep1	A	T	14: 50,868,317 (GRCm38)	L82Q	probably damaging	Het
Tfip11	T	C	5: 112,331,220 (GRCm38)		probably null	Het
Thtpa	G	T	14: 55,095,833 (GRCm38)	R125L	probably damaging	Het
Tm9sf1	C	T	14: 55,642,844 (GRCm38)	G32D	possibly damaging	Het
Tmcc3	A	T	10: 94,579,153 (GRCm38)	N239I	probably damaging	Het
Tpd52	A	T	3: 8,931,195 (GRCm38)		probably null	Het
Traf6	T	A	2: 101,684,755 (GRCm38)	C85*	probably null	Het
Trim68	T	G	7: 102,678,783 (GRCm38)	D321A	probably damaging	Het
Trmt6	C	A	2: 132,808,783 (GRCm38)	A302S	probably benign	Het
Ttbk1	T	C	17: 46,447,632 (GRCm38)	D692G	probably benign	Het
Ttc17	A	T	2: 94,303,640 (GRCm38)	W1067R	probably damaging	Het
Ttc6	T	A	12: 57,643,035 (GRCm38)		probably null	Het
Txnrd2	T	G	16: 18,477,692 (GRCm38)	I468S	probably damaging	Het
Ube2b	A	T	11: 51,988,644 (GRCm38)	Y100N	probably damaging	Het
Ucn3	A	T	13: 3,941,474 (GRCm38)	F59L	probably benign	Het
Uggt1	A	G	1: 36,184,412 (GRCm38)	Y599H	probably damaging	Het
Ulk3	T	A	9: 57,590,740 (GRCm38)	I108N	possibly damaging	Het
Vav3	A	G	3: 109,527,475 (GRCm38)	M441V	possibly damaging	Het
Vmn2r1	T	A	3: 64,101,398 (GRCm38)	D499E	possibly damaging	Het
Vmn2r118	C	T	17: 55,611,565 (GRCm38)	G109D	probably benign	Het
Vmn2r5	T	A	3: 64,509,510 (GRCm38)	M76L	probably benign	Het
Vwa3a	A	G	7: 120,790,142 (GRCm38)	K68E	possibly damaging	Het
Zcchc6	A	T	13: 59,789,846 (GRCm38)		probably null	Het
Zmiz1	A	T	14: 25,649,813 (GRCm38)	Y459F	probably damaging	Het

Other mutations in Ajuba

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Ajuba	APN	14	54,571,769 (GRCm38)	nonsense	probably null
IGL02935:Ajuba	APN	14	54,570,467 (GRCm38)	missense	probably damaging	1.00
R2281:Ajuba	UTSW	14	54,577,188 (GRCm38)	missense	probably damaging	1.00
R4231:Ajuba	UTSW	14	54,569,526 (GRCm38)	missense	probably damaging	0.99
R4232:Ajuba	UTSW	14	54,569,526 (GRCm38)	missense	probably damaging	0.99
R4233:Ajuba	UTSW	14	54,569,526 (GRCm38)	missense	probably damaging	0.99
R4234:Ajuba	UTSW	14	54,569,526 (GRCm38)	missense	probably damaging	0.99
R4236:Ajuba	UTSW	14	54,569,526 (GRCm38)	missense	probably damaging	0.99
R4924:Ajuba	UTSW	14	54,571,599 (GRCm38)	critical splice donor site	probably null
R5384:Ajuba	UTSW	14	54,570,398 (GRCm38)	missense	probably damaging	1.00
R5386:Ajuba	UTSW	14	54,570,398 (GRCm38)	missense	probably damaging	1.00
R7199:Ajuba	UTSW	14	54,573,458 (GRCm38)	nonsense	probably null
R7570:Ajuba	UTSW	14	54,576,402 (GRCm38)	missense	probably damaging	0.99
R8221:Ajuba	UTSW	14	54,570,390 (GRCm38)	missense	possibly damaging	0.93
R8901:Ajuba	UTSW	14	54,570,373 (GRCm38)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCTGGATACACTGACCTCTG -3'
(R):5'- GTAGCATTCTTCTAGGAGGACTGG -3'

Sequencing Primer
(F):5'- ATACACTGACCTCTGAGGGG -3'
(R):5'- ATTCTTCTAGGAGGACTGGGGGTG -3'

Posted On

2016-08-04