Mutagenetix > Incidental Mutation

Incidental Mutation 'R7448:Ubxn11'

577448

Institutional Source

Beutler Lab

Gene Symbol

Ubxn11

Ensembl Gene

ENSMUSG00000012126

Gene Name

UBX domain protein 11

Synonyms

4930506L07Rik, Soci, Ubxd5

MMRRC Submission

045523-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R7448 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133829811-133854095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133852466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 352 (R352W)

Ref Sequence

ENSEMBL: ENSMUSP00000074255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030651] [ENSMUST00000040271] [ENSMUST00000070246] [ENSMUST00000074690] [ENSMUST00000105879] [ENSMUST00000121566] [ENSMUST00000151113]

AlphaFold

Q9D572

Predicted Effect

probably benign
Transcript: ENSMUST00000030651

SMART Domains

Protein: ENSMUSP00000030651
Gene: ENSMUSG00000028843

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	2	93	6.3e-40	PFAM
Pfam:Glutaredoxin	22	70	9.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040271

SMART Domains

Protein: ENSMUSP00000039889
Gene: ENSMUSG00000037443

Domain	Start	End	E-Value	Type
coiled coil region	333	656	N/A	INTRINSIC
coiled coil region	725	749	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000070246
AA Change: R234W

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

SMART Domains

Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126
AA Change: R234W

Domain	Start	End	E-Value	Type
Pfam:SEP	114	185	1.5e-20	PFAM
UBX	268	350	2.3e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000074690
AA Change: R352W

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

SMART Domains

Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126
AA Change: R352W

Domain	Start	End	E-Value	Type
coiled coil region	69	147	N/A	INTRINSIC
Pfam:SEP	232	303	7.9e-20	PFAM
UBX	386	468	2.3e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105879

Predicted Effect

probably benign
Transcript: ENSMUST00000121566

SMART Domains

Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443

Domain	Start	End	E-Value	Type
coiled coil region	331	654	N/A	INTRINSIC
coiled coil region	723	747	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000151113
AA Change: R101W

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

SMART Domains

Protein: ENSMUSP00000122892
Gene: ENSMUSG00000012126
AA Change: R101W

Domain	Start	End	E-Value	Type
Blast:SEP	15	64	2e-13	BLAST
SCOP:d1i42a_	129	173	4e-5	SMART
Blast:UBX	135	174	1e-20	BLAST

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (117/117)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	C	2: 155,360,186 (GRCm39)	S54P	probably damaging	Het
Ahnak2	T	C	12: 112,746,605 (GRCm39)	K1242E		Het
Alpi	T	A	1: 87,029,257 (GRCm39)	M1L	possibly damaging	Het
Atp2c1	C	T	9: 105,329,982 (GRCm39)	A283T	probably damaging	Het
Atp8b5	T	G	4: 43,366,021 (GRCm39)	M764R	probably benign	Het
B4galnt2	T	A	11: 95,760,193 (GRCm39)	H278L	probably damaging	Het
Bcl9l	G	T	9: 44,420,634 (GRCm39)	A1347S	probably benign	Het
Bicd2	A	G	13: 49,533,427 (GRCm39)	E671G	probably damaging	Het
Bmp3	A	T	5: 99,020,077 (GRCm39)	I167F	probably damaging	Het
Bpifb5	T	A	2: 154,072,105 (GRCm39)	C271S	possibly damaging	Het
Camsap2	T	A	1: 136,198,644 (GRCm39)	H793L		Het
Casp8ap2	T	A	4: 32,643,974 (GRCm39)	S1016T	possibly damaging	Het
Castor1	A	G	11: 4,171,897 (GRCm39)	S325G	not run	Het
Ccdc134	T	A	15: 82,025,149 (GRCm39)	I216N	possibly damaging	Het
Ccdc63	G	T	5: 122,246,245 (GRCm39)	R559S	probably benign	Het
Cd276	T	C	9: 58,442,895 (GRCm39)	T187A	probably benign	Het
Ciao1	C	T	2: 127,087,678 (GRCm39)	R219H	probably damaging	Het
Clmn	T	C	12: 104,751,687 (GRCm39)	D256G	possibly damaging	Het
Cobl	A	C	11: 12,206,225 (GRCm39)	M550R	possibly damaging	Het
Cracr2b	A	T	7: 141,044,118 (GRCm39)	T117S	probably benign	Het
Cx3cr1	G	A	9: 119,881,282 (GRCm39)	A40V	probably benign	Het
Cxcl14	A	G	13: 56,440,344 (GRCm39)	C72R	probably damaging	Het
Dab2	T	A	15: 6,451,747 (GRCm39)	I121N	probably damaging	Het
Dapk1	A	G	13: 60,898,990 (GRCm39)	Y820C	probably damaging	Het
Dele1	A	G	18: 38,390,319 (GRCm39)	N256D	probably damaging	Het
Ech1	T	A	7: 28,525,623 (GRCm39)	C91S	probably damaging	Het
Exosc5	T	G	7: 25,358,734 (GRCm39)	V25G	probably benign	Het
Fbp1	A	C	13: 63,020,564 (GRCm39)	D122E	possibly damaging	Het
Fbxw13	A	G	9: 109,014,471 (GRCm39)	Y101H	unknown	Het
Fcsk	C	T	8: 111,616,963 (GRCm39)	G396S	possibly damaging	Het
Fhip1a	G	A	3: 85,579,871 (GRCm39)	S778L	probably benign	Het
Fmnl1	T	A	11: 103,077,453 (GRCm39)	V271E	probably damaging	Het
Galnt1	T	A	18: 24,417,866 (GRCm39)	S545T	probably benign	Het
Galnt13	G	A	2: 54,406,576 (GRCm39)	V9M	possibly damaging	Het
Gm7995	A	T	14: 42,132,302 (GRCm39)	I45F		Het
Gpr137	C	T	19: 6,917,726 (GRCm39)	R134Q	possibly damaging	Het
Gpr22	T	G	12: 31,759,514 (GRCm39)	I203L	probably benign	Het
H2-Q10	T	C	17: 35,784,457 (GRCm39)	Y324H	not run	Het
Hcn4	G	A	9: 58,751,582 (GRCm39)	E403K	unknown	Het
Hddc2	T	A	10: 31,189,412 (GRCm39)	M1K	probably null	Het
Hps3	A	G	3: 20,089,329 (GRCm39)	F34S	probably damaging	Het
Ift56	T	A	6: 38,381,422 (GRCm39)	Y319*	probably null	Het
Igdcc4	G	T	9: 65,031,276 (GRCm39)	V405L	possibly damaging	Het
Itpr2	C	A	6: 146,231,006 (GRCm39)	V1215L	probably damaging	Het
Kif26b	T	C	1: 178,742,339 (GRCm39)	S812P	probably damaging	Het
Lgi1	T	A	19: 38,289,713 (GRCm39)	C260S	probably damaging	Het
Lhfpl6	A	G	3: 53,168,020 (GRCm39)	Y198C	probably damaging	Het
Lrp5	T	C	19: 3,699,439 (GRCm39)	D282G	probably benign	Het
Lrpprc	T	C	17: 85,079,567 (GRCm39)	T230A	probably damaging	Het
Lrtm2	A	G	6: 119,297,784 (GRCm39)	W86R	probably benign	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Magi2	G	A	5: 20,563,954 (GRCm39)	G199D	probably damaging	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Marchf7	T	A	2: 60,077,858 (GRCm39)		probably null	Het
Morc1	A	G	16: 48,251,708 (GRCm39)	D2G	probably damaging	Het
Mpp7	A	T	18: 7,351,079 (GRCm39)	F539L	probably damaging	Het
Muc13	A	T	16: 33,634,951 (GRCm39)	I502F	probably damaging	Het
Myh13	A	G	11: 67,255,286 (GRCm39)		probably null	Het
Nat10	C	G	2: 103,578,390 (GRCm39)	L238F	probably damaging	Het
Nckap1	G	A	2: 80,354,885 (GRCm39)	T679I	probably damaging	Het
Npy6r	T	A	18: 44,409,260 (GRCm39)	I227N	probably damaging	Het
Nudt18	A	T	14: 70,815,389 (GRCm39)	M1L	unknown	Het
Or13d1	T	A	4: 52,971,207 (GRCm39)	N195K	probably damaging	Het
Or14a257	G	A	7: 86,138,417 (GRCm39)	T114I	probably damaging	Het
Or4f14	T	A	2: 111,742,637 (GRCm39)	I213L	probably benign	Het
Or8d1	C	A	9: 38,766,412 (GRCm39)	T18K	probably damaging	Het
Or8u8	T	C	2: 86,011,678 (GRCm39)	Y259C	probably damaging	Het
Pcdha3	T	A	18: 37,079,266 (GRCm39)	F3I	probably benign	Het
Pcdhga3	T	A	18: 37,808,917 (GRCm39)	Y457N	possibly damaging	Het
Pclo	A	T	5: 14,719,631 (GRCm39)	Q1256L	unknown	Het
Piezo2	C	T	18: 63,157,543 (GRCm39)	R2389H	probably damaging	Het
Pml	G	T	9: 58,154,496 (GRCm39)	Q126K	probably benign	Het
Ppef2	A	G	5: 92,376,563 (GRCm39)	Y655H	probably damaging	Het
Ppp4r1	T	C	17: 66,147,936 (GRCm39)	V926A	probably damaging	Het
Psg29	A	G	7: 16,945,648 (GRCm39)	D406G	possibly damaging	Het
Ptprf	T	C	4: 118,092,864 (GRCm39)	D517G	probably benign	Het
Ptprg	G	A	14: 12,142,461 (GRCm38)	E371K	probably benign	Het
Pttg1ip2	T	C	5: 5,505,952 (GRCm39)	I110V	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rasgrp1	T	A	2: 117,122,178 (GRCm39)	D404V	possibly damaging	Het
Rb1cc1	T	A	1: 6,315,727 (GRCm39)	F541I	probably damaging	Het
Rgsl1	C	A	1: 153,719,847 (GRCm39)		probably null	Het
Rhobtb2	C	T	14: 70,033,397 (GRCm39)	W524*	probably null	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rims1	A	G	1: 22,474,699 (GRCm39)	S211P		Het
Ripor2	A	T	13: 24,854,054 (GRCm39)	Q54L	possibly damaging	Het
Rnf213	A	G	11: 119,372,117 (GRCm39)	I4903V		Het
Robo3	T	A	9: 37,336,111 (GRCm39)	I452F	possibly damaging	Het
Rpl27rt	A	G	18: 34,870,580 (GRCm39)	K38R	probably damaging	Het
Seh1l	C	T	18: 67,916,988 (GRCm39)	H56Y	probably damaging	Het
Sema3b	T	A	9: 107,480,162 (GRCm39)	D192V	probably damaging	Het
Sidt1	A	T	16: 44,106,763 (GRCm39)	C222*	probably null	Het
Skor1	A	G	9: 63,053,385 (GRCm39)	F195L	probably damaging	Het
Slc44a2	A	C	9: 21,259,642 (GRCm39)	K596N	possibly damaging	Het
Smgc	A	G	15: 91,729,696 (GRCm39)	K217E	probably benign	Het
Socs7	C	A	11: 97,267,917 (GRCm39)	H349Q	possibly damaging	Het
Speer4f2	A	G	5: 17,581,540 (GRCm39)	T161A		Het
Spg11	T	C	2: 121,924,026 (GRCm39)		probably null	Het
Ssb	A	G	2: 69,693,624 (GRCm39)	T11A	probably benign	Het
Sun1	A	G	5: 139,232,589 (GRCm39)	S837G	probably damaging	Het
Szt2	A	C	4: 118,220,668 (GRCm39)	S3385A	unknown	Het
Tapbp	T	C	17: 34,139,391 (GRCm39)	V129A	possibly damaging	Het
Thsd1	T	C	8: 22,733,349 (GRCm39)	I132T	possibly damaging	Het
Tm6sf2	T	A	8: 70,530,589 (GRCm39)	V223E	possibly damaging	Het
Tm9sf4	T	A	2: 153,036,267 (GRCm39)	M343K	probably benign	Het
Trank1	C	A	9: 111,195,417 (GRCm39)	P1147Q	probably benign	Het
Trip4	G	A	9: 65,773,757 (GRCm39)	T275M	probably damaging	Het
Tsen34	T	C	7: 3,698,834 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,680,422 (GRCm39)	E1086G	unknown	Het
Ubr4	A	T	4: 139,189,778 (GRCm39)	M853L	unknown	Het
Vmn1r35	G	A	6: 66,656,219 (GRCm39)		probably benign	Het
Vmn2r107	C	T	17: 20,595,994 (GRCm39)	T849I	probably benign	Het
Vmn2r93	C	A	17: 18,546,248 (GRCm39)	L707I	probably benign	Het
Wwc1	G	A	11: 35,766,533 (GRCm39)	T574I	probably benign	Het
Zfp143	A	G	7: 109,669,705 (GRCm39)	M45V	probably benign	Het
Zfp518a	T	A	19: 40,902,601 (GRCm39)	N843K	possibly damaging	Het
Zfp87	A	T	13: 67,665,163 (GRCm39)	M433K	probably benign	Het
Zfp873	C	A	10: 81,896,461 (GRCm39)	H397Q	probably damaging	Het
Zscan21	A	T	5: 138,116,110 (GRCm39)		probably benign	Het

Other mutations in Ubxn11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02547:Ubxn11	APN	4	133,836,895 (GRCm39)	missense	possibly damaging	0.82
IGL02559:Ubxn11	APN	4	133,852,254 (GRCm39)	missense	probably damaging	0.98
R0015:Ubxn11	UTSW	4	133,843,336 (GRCm39)	splice site	probably null
R0586:Ubxn11	UTSW	4	133,836,963 (GRCm39)	missense	possibly damaging	0.49
R1449:Ubxn11	UTSW	4	133,852,203 (GRCm39)	missense	probably damaging	1.00
R1513:Ubxn11	UTSW	4	133,851,452 (GRCm39)	critical splice donor site	probably null
R1860:Ubxn11	UTSW	4	133,852,149 (GRCm39)	missense	probably damaging	1.00
R3776:Ubxn11	UTSW	4	133,835,605 (GRCm39)	missense	probably damaging	1.00
R4395:Ubxn11	UTSW	4	133,843,431 (GRCm39)	missense	possibly damaging	0.53
R4840:Ubxn11	UTSW	4	133,836,919 (GRCm39)	missense	probably damaging	1.00
R5387:Ubxn11	UTSW	4	133,850,737 (GRCm39)	missense	probably damaging	1.00
R5460:Ubxn11	UTSW	4	133,852,396 (GRCm39)	missense	probably damaging	1.00
R5560:Ubxn11	UTSW	4	133,853,935 (GRCm39)	missense	probably damaging	1.00
R6611:Ubxn11	UTSW	4	133,850,910 (GRCm39)	missense	probably damaging	1.00
R6901:Ubxn11	UTSW	4	133,853,575 (GRCm39)	missense	probably damaging	0.99
R7195:Ubxn11	UTSW	4	133,853,726 (GRCm39)	missense	possibly damaging	0.75
R7453:Ubxn11	UTSW	4	133,853,540 (GRCm39)	missense	probably benign	0.08
R8705:Ubxn11	UTSW	4	133,853,551 (GRCm39)	missense	probably damaging	0.98
R9797:Ubxn11	UTSW	4	133,851,426 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGACTTCAGGTAAGCGGGAC -3'
(R):5'- TGTAGCCACCAACCAAGTTG -3'

Sequencing Primer
(F):5'- TAAGCGGGACCCCAAGG -3'
(R):5'- ACCAACCAAGTTGTCCTGTGG -3'

Posted On

2019-10-07