Incidental Mutation 'IGL02547:Ubxn11'
ID297881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubxn11
Ensembl Gene ENSMUSG00000012126
Gene NameUBX domain protein 11
SynonymsSoci, 4930506L07Rik, Ubxd5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.237) question?
Stock #IGL02547
Quality Score
Status
Chromosome4
Chromosomal Location134102570-134127593 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 134109584 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

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 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 noncoding transcript
Transcript: ENSMUST00000156323
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

DomainStartEndE-ValueType
coiled coil region 68 146 N/A INTRINSIC
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik C T 5: 109,678,762 probably null Het
Akap6 T A 12: 53,140,696 L1631H probably damaging Het
Atf7ip T A 6: 136,603,276 probably benign Het
Atp5o A T 16: 91,928,961 Y48N probably damaging Het
Birc6 T G 17: 74,579,645 M656R probably benign Het
Camkk1 A G 11: 73,038,433 R455G probably benign Het
Casr A T 16: 36,515,674 M91K probably benign Het
Ccdc28a A T 10: 18,214,146 V124D possibly damaging Het
Ccnh T C 13: 85,202,504 probably benign Het
Cdc37 G T 9: 21,139,966 probably benign Het
Cdon A G 9: 35,478,654 D868G probably damaging Het
Cyp4f15 A G 17: 32,700,255 R351G probably benign Het
Dclk3 T C 9: 111,469,023 I545T probably damaging Het
Dock4 A G 12: 40,737,479 M798V probably benign Het
Gas7 A T 11: 67,665,435 Q200L probably damaging Het
Gm15448 T C 7: 3,821,661 D573G probably damaging Het
Gm4758 A T 16: 36,312,526 probably benign Het
Gm6614 A T 6: 141,990,390 L323Q probably damaging Het
Ica1 T C 6: 8,670,691 probably null Het
Idh3a T A 9: 54,592,395 V31D probably benign Het
Il3ra A T 14: 14,351,970 T247S probably benign Het
Itgb7 A G 15: 102,218,510 C497R probably damaging Het
Itm2c T C 1: 85,906,461 Y166H probably damaging Het
Mphosph8 A G 14: 56,672,484 D98G probably damaging Het
Mstn A T 1: 53,064,125 I207F probably benign Het
Muc15 A G 2: 110,731,305 R29G probably damaging Het
Neb T A 2: 52,188,730 T142S probably damaging Het
Nipbl G A 15: 8,351,598 T570I probably benign Het
Nr5a2 T A 1: 136,940,927 M196L probably benign Het
Nrp1 C A 8: 128,493,031 F643L probably benign Het
Olfr1098 A G 2: 86,923,028 F168S probably damaging Het
Olfr1441 A T 19: 12,422,311 M1L probably benign Het
Olfr600 A G 7: 103,346,244 F228S probably damaging Het
Olfr625-ps1 T C 7: 103,682,766 I16T probably benign Het
Osbpl9 C T 4: 109,068,483 W446* probably null Het
Pced1a T C 2: 130,419,707 D342G possibly damaging Het
Prkcd C A 14: 30,599,469 W555L probably damaging Het
Prpf31 T C 7: 3,630,899 S78P probably benign Het
Psg27 T C 7: 18,560,628 T285A probably benign Het
Retreg3 A T 11: 101,106,378 L92* probably null Het
Rmdn1 A G 4: 19,605,501 K282E possibly damaging Het
Sept8 G T 11: 53,537,265 R302L probably damaging Het
Serpina3a A G 12: 104,116,543 I192V probably damaging Het
Sgce T C 6: 4,711,301 probably benign Het
Spats1 A T 17: 45,474,817 probably benign Het
Tcerg1l C T 7: 138,248,371 probably null Het
Ttn A G 2: 76,729,386 V21230A probably damaging Het
Vps13c T G 9: 67,908,019 I979S possibly damaging Het
Zc3h6 T A 2: 129,015,611 H683Q probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp629 T C 7: 127,611,674 probably null Het
Other mutations in Ubxn11
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5387:Ubxn11 UTSW 4 134123426 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
Posted On2015-04-16