Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02547:Ubxn11'

297881

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubxn11

Ensembl Gene

ENSMUSG00000012126

Gene Name

UBX domain protein 11

Synonyms

4930506L07Rik, Soci, Ubxd5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL02547

Quality Score

Status

Chromosome

Chromosomal Location

133829811-133854095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 133836895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 41 (D41A)

Ref Sequence

ENSEMBL: ENSMUSP00000117081 (fasta)

Gene Model

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

AlphaFold

Q9D572

Predicted Effect

probably benign
Transcript: ENSMUST00000070246
AA Change: D42A

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126
AA Change: D42A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074690
AA Change: D42A

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126
AA Change: D42A

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: ENSMUST00000127632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142442

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156750
AA Change: D41A

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117081
Gene: ENSMUSG00000012126
AA Change: D41A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156323

Coding Region Coverage

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,187,479 (GRCm39)	L1631H	probably damaging	Het
Atf7ip	T	A	6: 136,580,274 (GRCm39)		probably benign	Het
Atp5po	A	T	16: 91,725,849 (GRCm39)	Y48N	probably damaging	Het
Birc6	T	G	17: 74,886,640 (GRCm39)	M656R	probably benign	Het
Camkk1	A	G	11: 72,929,259 (GRCm39)	R455G	probably benign	Het
Casr	A	T	16: 36,336,036 (GRCm39)	M91K	probably benign	Het
Ccdc28a	A	T	10: 18,089,894 (GRCm39)	V124D	possibly damaging	Het
Ccnh	T	C	13: 85,350,623 (GRCm39)		probably benign	Het
Cdc37	G	T	9: 21,051,262 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,389,950 (GRCm39)	D868G	probably damaging	Het
Cstdc3	A	T	16: 36,132,888 (GRCm39)		probably benign	Het
Cyp4f15	A	G	17: 32,919,229 (GRCm39)	R351G	probably benign	Het
Dclk3	T	C	9: 111,298,091 (GRCm39)	I545T	probably damaging	Het
Dock4	A	G	12: 40,787,478 (GRCm39)	M798V	probably benign	Het
Gas7	A	T	11: 67,556,261 (GRCm39)	Q200L	probably damaging	Het
Ica1	T	C	6: 8,670,691 (GRCm39)		probably null	Het
Idh3a	T	A	9: 54,499,679 (GRCm39)	V31D	probably benign	Het
Il3ra	A	T	14: 14,351,970 (GRCm38)	T247S	probably benign	Het
Itgb7	A	G	15: 102,126,945 (GRCm39)	C497R	probably damaging	Het
Itm2c	T	C	1: 85,834,182 (GRCm39)	Y166H	probably damaging	Het
Mphosph8	A	G	14: 56,909,941 (GRCm39)	D98G	probably damaging	Het
Mstn	A	T	1: 53,103,284 (GRCm39)	I207F	probably benign	Het
Muc15	A	G	2: 110,561,650 (GRCm39)	R29G	probably damaging	Het
Neb	T	A	2: 52,078,742 (GRCm39)	T142S	probably damaging	Het
Nipbl	G	A	15: 8,381,082 (GRCm39)	T570I	probably benign	Het
Nr5a2	T	A	1: 136,868,665 (GRCm39)	M196L	probably benign	Het
Nrp1	C	A	8: 129,219,512 (GRCm39)	F643L	probably benign	Het
Or52ad1	A	G	7: 102,995,451 (GRCm39)	F228S	probably damaging	Het
Or52z15	T	C	7: 103,331,973 (GRCm39)	I16T	probably benign	Het
Or5a3	A	T	19: 12,399,675 (GRCm39)	M1L	probably benign	Het
Or8h8	A	G	2: 86,753,372 (GRCm39)	F168S	probably damaging	Het
Osbpl9	C	T	4: 108,925,680 (GRCm39)	W446*	probably null	Het
Pced1a	T	C	2: 130,261,627 (GRCm39)	D342G	possibly damaging	Het
Pira13	T	C	7: 3,824,660 (GRCm39)	D573G	probably damaging	Het
Prkcd	C	A	14: 30,321,426 (GRCm39)	W555L	probably damaging	Het
Prpf31	T	C	7: 3,633,898 (GRCm39)	S78P	probably benign	Het
Psg27	T	C	7: 18,294,553 (GRCm39)	T285A	probably benign	Het
Retreg3	A	T	11: 100,997,204 (GRCm39)	L92*	probably null	Het
Rmdn1	A	G	4: 19,605,501 (GRCm39)	K282E	possibly damaging	Het
Septin8	G	T	11: 53,428,092 (GRCm39)	R302L	probably damaging	Het
Serpina3a	A	G	12: 104,082,802 (GRCm39)	I192V	probably damaging	Het
Sgce	T	C	6: 4,711,301 (GRCm39)		probably benign	Het
Slco1a8	A	T	6: 141,936,116 (GRCm39)	L323Q	probably damaging	Het
Spats1	A	T	17: 45,785,743 (GRCm39)		probably benign	Het
Tcerg1l	C	T	7: 137,850,100 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,559,730 (GRCm39)	V21230A	probably damaging	Het
Vps13c	T	G	9: 67,815,301 (GRCm39)	I979S	possibly damaging	Het
Zc3h6	T	A	2: 128,857,531 (GRCm39)	H683Q	probably benign	Het
Zfp1007	C	T	5: 109,826,628 (GRCm39)		probably null	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp629	T	C	7: 127,210,846 (GRCm39)		probably null	Het

Other mutations in Ubxn11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16