Mutagenetix > Incidental Mutation

Incidental Mutation 'R0015:Ubxn11'

64892

Institutional Source

Beutler Lab

Gene Symbol

Ubxn11

Ensembl Gene

ENSMUSG00000012126

Gene Name

UBX domain protein 11

Synonyms

4930506L07Rik, Soci, Ubxd5

MMRRC Submission

038310-MU

Accession Numbers

Essential gene?

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

Stock #

R0015 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

133829811-133854095 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to G at 133843336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070246] [ENSMUST00000074690] [ENSMUST00000156750] [ENSMUST00000156750]

AlphaFold

Q9D572

Predicted Effect

probably benign
Transcript: ENSMUST00000070246

SMART Domains

Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126

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

Predicted Effect

probably null
Transcript: ENSMUST00000074690

SMART Domains

Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126

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

noncoding transcript
Transcript: ENSMUST00000123281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156323

Predicted Effect

probably null
Transcript: ENSMUST00000156750

SMART Domains

Protein: ENSMUSP00000117081
Gene: ENSMUSG00000012126

Domain	Start	End	E-Value	Type
coiled coil region	68	146	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000156750

SMART Domains

Protein: ENSMUSP00000117081
Gene: ENSMUSG00000012126

Domain	Start	End	E-Value	Type
coiled coil region	68	146	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

97% (71/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130050O07Rik	A	G	1: 137,856,394 (GRCm39)	Y23C	unknown	Het
Adcy3	G	A	12: 4,245,260 (GRCm39)		probably null	Het
Aldh6a1	G	A	12: 84,488,554 (GRCm39)	L86F	probably damaging	Het
Arl10	G	T	13: 54,723,770 (GRCm39)		probably benign	Het
Armc3	A	G	2: 19,301,132 (GRCm39)		probably null	Het
Astn2	T	G	4: 66,184,619 (GRCm39)		probably null	Het
Cacna1d	G	A	14: 29,836,928 (GRCm39)	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682 (GRCm39)		probably benign	Het
Cdh5	C	T	8: 104,867,559 (GRCm39)	T612I	probably benign	Het
Cfap58	A	G	19: 48,017,539 (GRCm39)	M800V	probably benign	Het
Clrn1	A	T	3: 58,753,848 (GRCm39)	I171K	probably damaging	Het
Cnp	T	A	11: 100,469,734 (GRCm39)		probably null	Het
Col12a1	T	C	9: 79,558,667 (GRCm39)	T1933A	probably damaging	Het
Cplane1	G	A	15: 8,215,668 (GRCm39)	R408H	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666 (GRCm39)	S660G	probably benign	Het
Dync1i2	C	A	2: 71,044,828 (GRCm39)	R13S	probably damaging	Het
Eps8l1	A	T	7: 4,480,556 (GRCm39)		probably benign	Het
Espn	T	C	4: 152,223,609 (GRCm39)	T188A	possibly damaging	Het
F2	T	C	2: 91,460,952 (GRCm39)	E260G	probably benign	Het
Fat4	T	A	3: 39,036,652 (GRCm39)	S3435T	probably damaging	Het
Fchsd1	A	G	18: 38,096,012 (GRCm39)	C533R	probably benign	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Gls2	T	G	10: 128,045,219 (GRCm39)	L572R	probably damaging	Het
Gm20939	A	T	17: 95,184,196 (GRCm39)	E281D	probably benign	Het
Gpr35	T	G	1: 92,910,954 (GRCm39)	L222W	probably damaging	Het
Hsf5	C	A	11: 87,548,161 (GRCm39)	H615N	probably benign	Het
Id2	C	T	12: 25,145,802 (GRCm39)	D70N	probably damaging	Het
Ints2	T	C	11: 86,140,113 (GRCm39)	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,570,080 (GRCm39)	D631A	probably damaging	Het
Klhdc8a	A	G	1: 132,230,743 (GRCm39)	T203A	probably damaging	Het
Lama4	C	T	10: 38,951,432 (GRCm39)	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,462,179 (GRCm39)	L226P	probably damaging	Het
Lifr	T	A	15: 7,217,667 (GRCm39)		probably null	Het
Lonp1	T	A	17: 56,925,406 (GRCm39)	Q462L	probably benign	Het
Lypd1	A	G	1: 125,838,175 (GRCm39)	V48A	possibly damaging	Het
Mapkapk2	A	G	1: 131,025,063 (GRCm39)	I67T	possibly damaging	Het
Mbd3l1	A	T	9: 18,396,154 (GRCm39)	D93V	probably benign	Het
Mdh1b	T	C	1: 63,760,959 (GRCm39)		probably benign	Het
Myh7b	C	T	2: 155,464,206 (GRCm39)	P569L	probably damaging	Het
Ncapd3	C	A	9: 26,963,105 (GRCm39)	A470E	probably damaging	Het
Ndrg2	A	G	14: 52,147,902 (GRCm39)		probably benign	Het
Nprl2	A	T	9: 107,421,618 (GRCm39)	I209F	probably damaging	Het
Ntrk1	A	G	3: 87,699,057 (GRCm39)		probably benign	Het
Olfm2	T	C	9: 20,580,037 (GRCm39)	E268G	probably damaging	Het
Or8b37	T	A	9: 37,958,963 (GRCm39)	Y148*	probably null	Het
Pcf11	T	A	7: 92,307,525 (GRCm39)	H881L	probably benign	Het
Pde10a	A	G	17: 9,196,029 (GRCm39)	D640G	probably damaging	Het
Pde9a	G	A	17: 31,605,330 (GRCm39)		probably null	Het
Pianp	G	T	6: 124,978,503 (GRCm39)	G236V	probably damaging	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Ppp1r3a	A	G	6: 14,717,660 (GRCm39)	S1085P	possibly damaging	Het
Pter	G	A	2: 13,005,811 (GRCm39)	G328D	probably damaging	Het
Rad51	T	A	2: 118,946,808 (GRCm39)	M5K	probably benign	Het
Rbm43	T	A	2: 51,815,679 (GRCm39)	I181F	probably benign	Het
Rgs12	T	C	5: 35,180,120 (GRCm39)		probably benign	Het
Rnf213	A	C	11: 119,332,432 (GRCm39)	D2547A	possibly damaging	Het
Slc20a2	C	A	8: 23,025,361 (GRCm39)	A21E	probably damaging	Het
Stab2	A	G	10: 86,679,481 (GRCm39)	S2503P	probably benign	Het
Sv2b	A	T	7: 74,775,389 (GRCm39)	F479L	probably damaging	Het
Sybu	T	C	15: 44,536,896 (GRCm39)	R349G	probably damaging	Het
Tead3	T	C	17: 28,560,325 (GRCm39)	Y2C	probably damaging	Het
Tnrc6c	T	A	11: 117,612,284 (GRCm39)	N307K	probably damaging	Het
Ust	T	C	10: 8,205,829 (GRCm39)		probably benign	Het
Vmn2r116	T	A	17: 23,620,823 (GRCm39)	N852K	probably benign	Het
Zgrf1	T	C	3: 127,349,046 (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
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
R7448:Ubxn11	UTSW	4	133,852,466 (GRCm39)	missense	probably damaging	1.00
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'- TCCTAGAGAAGGAGCTGAACCTGC -3'
(R):5'- TTGAAACAATGGGCCTCTGGAAGAC -3'

Sequencing Primer
(F):5'- AGCTGAACCTGCTGTTCTG -3'
(R):5'- TCTGGAAGACTGGCAGGC -3'

Posted On

2013-08-06