Incidental Mutation 'R5387:Ubxn11'
ID425323
Institutional Source Beutler Lab
Gene Symbol Ubxn11
Ensembl Gene ENSMUSG00000012126
Gene NameUBX domain protein 11
SynonymsSoci, 4930506L07Rik, Ubxd5
MMRRC Submission 042959-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #R5387 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location134102570-134127593 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 134123426 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 196 (D196E)
Ref Sequence ENSEMBL: ENSMUSP00000074255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030651] [ENSMUST00000070246] [ENSMUST00000074690] [ENSMUST00000105879] [ENSMUST00000151113]
Predicted Effect probably benign
Transcript: ENSMUST00000030651
SMART Domains Protein: ENSMUSP00000030651
Gene: ENSMUSG00000028843

DomainStartEndE-ValueType
Pfam:SH3BGR 2 93 6.3e-40 PFAM
Pfam:Glutaredoxin 22 70 9.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000070246
AA Change: D78E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126
AA Change: D78E

DomainStartEndE-ValueType
Pfam:SEP 114 185 1.5e-20 PFAM
UBX 268 350 2.3e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000074690
AA Change: D196E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126
AA Change: D196E

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000131329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139616
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142442
Predicted Effect probably benign
Transcript: ENSMUST00000151113
SMART Domains Protein: ENSMUSP00000122892
Gene: ENSMUSG00000012126

DomainStartEndE-ValueType
Blast:SEP 15 64 2e-13 BLAST
SCOP:d1i42a_ 129 173 4e-5 SMART
Blast:UBX 135 174 1e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156323
Meta Mutation Damage Score 0.364 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 99% (80/81)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,685,974 D32E probably benign Het
2210408I21Rik T A 13: 77,259,973 S140T probably benign Het
Ahnak T C 19: 9,003,691 S780P probably damaging Het
Ankhd1 C A 18: 36,634,644 H1205N probably damaging Het
Ano1 T C 7: 144,648,619 K139R probably benign Het
Anp32b T G 4: 46,468,573 C114W probably damaging Het
Ascl1 C T 10: 87,492,689 A134T probably damaging Het
Atl2 C T 17: 79,852,800 E453K probably benign Het
Aup1 C T 6: 83,055,024 A84V probably damaging Het
Btbd7 A T 12: 102,837,785 M332K probably damaging Het
Cacna1d A G 14: 30,100,751 V1107A probably damaging Het
Cd33 G A 7: 43,532,053 Q114* probably null Het
Col4a4 C T 1: 82,493,591 G681E unknown Het
Defb22 C A 2: 152,485,906 A120S unknown Het
Dnah7b A G 1: 46,188,659 I1347M probably damaging Het
Efcab5 A G 11: 77,134,842 I549T possibly damaging Het
Esp15 T A 17: 39,644,577 probably null Het
Fbxo7 A G 10: 86,024,654 T42A probably benign Het
Filip1 A G 9: 79,818,274 I1021T probably benign Het
Gad1 C A 2: 70,563,851 S7* probably null Het
Gm281 C A 14: 13,914,438 M1I probably null Het
H2-Q7 C T 17: 35,439,542 T52M probably damaging Het
H2-T3 C T 17: 36,186,702 G28R probably benign Het
Hist1h2ad T A 13: 23,574,667 probably null Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Ift81 A G 5: 122,555,535 Y604H probably damaging Het
Igsf11 A G 16: 39,022,423 Y154C probably damaging Het
Kif26b G T 1: 178,914,876 A846S probably benign Het
Lnx2 G A 5: 147,028,154 P420S probably benign Het
Lrit2 A G 14: 37,072,259 T427A probably damaging Het
Lrrc43 G T 5: 123,499,671 probably null Het
Mug1 T C 6: 121,884,394 Y1325H probably damaging Het
Naglu A T 11: 101,076,724 Y500F probably damaging Het
Npy4r A G 14: 34,146,983 M116T probably benign Het
Nrd1 A G 4: 109,039,762 Y526C probably damaging Het
Nrp2 T C 1: 62,762,813 S472P probably benign Het
Olfr102 T A 17: 37,314,292 T31S probably benign Het
Olfr361 T C 2: 37,085,719 T10A possibly damaging Het
Otogl T A 10: 107,780,933 T1828S probably benign Het
Pank2 C T 2: 131,274,262 T200I probably benign Het
Pbrm1 A G 14: 31,082,610 Y946C probably damaging Het
Pde12 A T 14: 26,666,453 S437T probably benign Het
Pikfyve A G 1: 65,265,268 K1710E possibly damaging Het
Plcd3 A G 11: 103,078,455 S229P probably damaging Het
Polr3a T C 14: 24,454,941 I1084V possibly damaging Het
Prkaa2 C A 4: 105,040,177 D280Y probably damaging Het
Ptprg T A 14: 12,153,873 S531R probably damaging Het
R3hdm2 T C 10: 127,485,434 S620P probably damaging Het
Rab33b A G 3: 51,493,455 T117A probably damaging Het
Rasal2 T C 1: 157,157,765 D804G possibly damaging Het
Rbp3 A G 14: 33,956,413 T773A possibly damaging Het
Rrnad1 A T 3: 87,930,011 probably benign Het
Rspry1 A G 8: 94,638,286 T185A possibly damaging Het
Sec61a2 G T 2: 5,882,545 probably benign Het
Setx C T 2: 29,147,594 R1364C probably benign Het
Shtn1 G T 19: 59,038,369 L97M probably damaging Het
Slc35f1 T C 10: 53,108,164 L340P probably damaging Het
Slc45a1 T A 4: 150,643,909 probably benign Het
Slmap T C 14: 26,459,933 E386G probably benign Het
Smc2 C T 4: 52,475,096 A924V probably benign Het
Sp110 C G 1: 85,589,118 E219D probably damaging Het
Tecta G A 9: 42,375,063 L766F probably damaging Het
Tle3 C T 9: 61,407,489 probably null Het
Top3a A G 11: 60,762,490 F53L probably damaging Het
Trem1 T C 17: 48,241,513 I26T possibly damaging Het
Ttc7b G T 12: 100,446,963 Q199K possibly damaging Het
Ubap2l T C 3: 90,006,596 Y975C probably benign Het
Unc80 A G 1: 66,530,021 H945R possibly damaging Het
Usp15 A G 10: 123,131,286 I405T probably damaging Het
Uty C T Y: 1,189,339 E138K probably damaging Het
Wapl A G 14: 34,677,295 E107G probably benign Het
Wbp1l T C 19: 46,644,457 probably null Het
Zfp184 T G 13: 21,949,640 probably benign Het
Zfp36 A C 7: 28,377,868 L205R possibly damaging Het
Other mutations in Ubxn11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02547:Ubxn11 APN 4 134109584 missense possibly damaging 0.82
IGL02559:Ubxn11 APN 4 134124943 missense probably damaging 0.98
R0015:Ubxn11 UTSW 4 134116025 splice site probably null
R0586:Ubxn11 UTSW 4 134109652 missense possibly damaging 0.49
R1449:Ubxn11 UTSW 4 134124892 missense probably damaging 1.00
R1513:Ubxn11 UTSW 4 134124141 critical splice donor site probably null
R1860:Ubxn11 UTSW 4 134124838 missense probably damaging 1.00
R3776:Ubxn11 UTSW 4 134108294 missense probably damaging 1.00
R4395:Ubxn11 UTSW 4 134116120 missense possibly damaging 0.53
R4840:Ubxn11 UTSW 4 134109608 missense probably damaging 1.00
R5460:Ubxn11 UTSW 4 134125085 missense probably damaging 1.00
R5560:Ubxn11 UTSW 4 134126624 missense probably damaging 1.00
R6611:Ubxn11 UTSW 4 134123599 missense probably damaging 1.00
R6901:Ubxn11 UTSW 4 134126264 missense probably damaging 0.99
R7195:Ubxn11 UTSW 4 134126415 missense possibly damaging 0.75
R7448:Ubxn11 UTSW 4 134125155 missense probably damaging 1.00
R7453:Ubxn11 UTSW 4 134126229 missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- CTTTGCCAGCCCAGTGCC -3'
(R):5'- CCTACCTGCGTGGAGGGAT -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAATGAGTTCCAGG -3'
(R):5'- CCTGCGTGGAGGGATCGTAG -3'
Posted On2016-08-04