Mutagenetix > Incidental Mutation

Incidental Mutation 'R6901:Ubxn11'

538517

Institutional Source

Beutler Lab

Gene Symbol

Ubxn11

Ensembl Gene

ENSMUSG00000012126

Gene Name

UBX domain protein 11

Synonyms

4930506L07Rik, Soci, Ubxd5

MMRRC Submission

044995-MU

Accession Numbers

Essential gene?

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

Stock #

R6901 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133829811-133854095 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133853575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 125 (A125T)

Ref Sequence

ENSEMBL: ENSMUSP00000122892 (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: A258T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126
AA Change: A258T

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: A376T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126
AA Change: A376T

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: A125T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122892
Gene: ENSMUSG00000012126
AA Change: A125T

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: 99.9%
10x: 99.3%
20x: 97.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	A	9: 122,197,220 (GRCm39)	S136T	probably benign	Het
Anxa10	T	C	8: 62,549,816 (GRCm39)	T10A	probably damaging	Het
Ap3b1	A	G	13: 94,554,650 (GRCm39)	E262G	probably benign	Het
Ap3b2	T	C	7: 81,134,660 (GRCm39)		probably null	Het
Arhgef40	A	G	14: 52,234,825 (GRCm39)	T1043A	probably damaging	Het
Arhgef5	T	A	6: 43,250,232 (GRCm39)	S328T	probably benign	Het
Arid4a	A	G	12: 71,113,911 (GRCm39)	K166R	probably damaging	Het
Cdh12	A	G	15: 21,583,872 (GRCm39)	I571V	probably benign	Het
Cdh4	G	A	2: 179,501,987 (GRCm39)	V316I	probably benign	Het
Cebpg	A	T	7: 34,750,202 (GRCm39)	H20Q	probably benign	Het
Ces4a	G	A	8: 105,873,330 (GRCm39)	V392I	probably benign	Het
CN725425	C	A	15: 91,124,966 (GRCm39)	P169T	possibly damaging	Het
Cyp2c54	A	G	19: 40,058,703 (GRCm39)	F243S	probably damaging	Het
Dkk2	T	A	3: 131,880,887 (GRCm39)		probably null	Het
Dync2h1	A	G	9: 7,131,855 (GRCm39)	Y1651H	probably damaging	Het
Dyrk1b	T	A	7: 27,884,542 (GRCm39)	L346Q	probably damaging	Het
Ephx4	T	C	5: 107,561,427 (GRCm39)	V85A	probably benign	Het
Etv6	A	G	6: 134,243,421 (GRCm39)	E392G	probably benign	Het
Fli1	T	A	9: 32,341,221 (GRCm39)	N202I	probably benign	Het
Gpc6	G	T	14: 118,188,629 (GRCm39)	R421L	possibly damaging	Het
Gse1	A	G	8: 120,956,561 (GRCm39)		probably benign	Het
Hdac1-ps	A	G	17: 78,800,089 (GRCm39)	E360G	probably benign	Het
Hnrnpab	T	C	11: 51,492,675 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,756,190 (GRCm39)	E136G	probably damaging	Het
Ift56	G	A	6: 38,378,079 (GRCm39)	R297H	possibly damaging	Het
Kcna3	C	T	3: 106,943,884 (GRCm39)	A49V	probably benign	Het
Krt42	C	T	11: 100,160,542 (GRCm39)	M52I	probably benign	Het
Lyrm4	A	T	13: 36,301,107 (GRCm39)	Y13N	probably damaging	Het
Map2	C	T	1: 66,460,932 (GRCm39)	S1576L	possibly damaging	Het
Map3k12	G	T	15: 102,409,064 (GRCm39)	P817Q	possibly damaging	Het
Map3k12	G	T	15: 102,409,065 (GRCm39)	P817T	possibly damaging	Het
Masp1	T	C	16: 23,332,584 (GRCm39)	K84E	probably damaging	Het
Mki67	A	T	7: 135,310,489 (GRCm39)		probably null	Het
Mrap	C	G	16: 90,546,193 (GRCm39)	S94C	probably damaging	Het
Mybpc2	C	A	7: 44,154,779 (GRCm39)	C986F	probably damaging	Het
Nbea	A	C	3: 55,926,836 (GRCm39)	M789R	probably damaging	Het
Or2ag1b	T	C	7: 106,288,396 (GRCm39)	I181V	probably benign	Het
Or6b2	G	T	1: 92,408,327 (GRCm39)	N5K	probably damaging	Het
Pde4a	A	G	9: 21,116,266 (GRCm39)	N475S	probably benign	Het
Pex7	C	T	10: 19,736,740 (GRCm39)	V297I	probably benign	Het
Pkd1l3	A	T	8: 110,341,246 (GRCm39)	H33L	unknown	Het
Prl8a6	A	T	13: 27,621,030 (GRCm39)	Y67N	possibly damaging	Het
Rcor1	A	T	12: 111,075,322 (GRCm39)	E383V	probably damaging	Het
Slc22a27	A	T	19: 7,903,944 (GRCm39)	S64R	probably damaging	Het
Snx7	G	A	3: 117,623,285 (GRCm39)	Q292*	probably null	Het
Tgm3	C	T	2: 129,883,890 (GRCm39)	T516M	possibly damaging	Het
Trim9	T	C	12: 70,393,413 (GRCm39)	E177G	probably damaging	Het
Ttc28	C	A	5: 111,424,891 (GRCm39)	T1541N	possibly damaging	Het
Ttc8	T	A	12: 98,927,735 (GRCm39)	L202H	probably damaging	Het
Ttll13	T	C	7: 79,899,930 (GRCm39)	Y90H	probably damaging	Het
Uba1y	T	G	Y: 825,496 (GRCm39)	I286S	probably benign	Het
Vmn1r48	A	G	6: 90,013,550 (GRCm39)	Y92H	possibly damaging	Het
Vmn1r74	T	C	7: 11,581,368 (GRCm39)	F223L	probably benign	Het
Vwa5b1	G	A	4: 138,313,880 (GRCm39)	T696I	probably benign	Het
Zfp266	G	T	9: 20,410,895 (GRCm39)	Y427*	probably null	Het
Zfp362	C	T	4: 128,679,808 (GRCm39)	C273Y	probably damaging	Het
Zfp385c	T	C	11: 100,523,585 (GRCm39)	N123S	probably benign	Het
Zfp936	T	A	7: 42,839,467 (GRCm39)	H311Q	probably damaging	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
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'- TGACAATGTCACCGTCCAGAG -3'
(R):5'- ACATCATCAGCAGGAAGGCC -3'

Sequencing Primer
(F):5'- TCTTGGGCCTCAGCTGACAC -3'
(R):5'- GAAGGCCTGCTCTCCGTTC -3'

Posted On

2018-11-06