Incidental Mutation 'R7195:Ubxn11'
ID 559843
Institutional Source Beutler Lab
Gene Symbol Ubxn11
Ensembl Gene ENSMUSG00000012126
Gene Name UBX domain protein 11
Synonyms 4930506L07Rik, Soci, Ubxd5
MMRRC Submission 045336-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R7195 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 133829811-133854095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 133853726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 398 (I398L)
Ref Sequence ENSEMBL: ENSMUSP00000074255 (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

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

coiled coil region 333 656 N/A INTRINSIC
coiled coil region 725 749 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000070246
AA Change: I280L

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126
AA Change: I280L

Pfam:SEP 114 185 1.5e-20 PFAM
UBX 268 350 2.3e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000074690
AA Change: I398L

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126
AA Change: I398L

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

coiled coil region 331 654 N/A INTRINSIC
coiled coil region 723 747 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000151113
AA Change: I147L

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122892
Gene: ENSMUSG00000012126
AA Change: I147L

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: 99.7%
  • 20x: 98.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T C 11: 58,179,242 (GRCm39) probably null Het
Abca2 A G 2: 25,332,088 (GRCm39) D1400G probably benign Het
Actl11 A T 9: 107,806,069 (GRCm39) K131* probably null Het
Adam39 A T 8: 41,277,812 (GRCm39) R68* probably null Het
Akap7 A T 10: 25,147,405 (GRCm39) N108K probably damaging Het
Arhgef10l C A 4: 140,338,721 (GRCm39) A14S probably benign Het
Ccdc141 T G 2: 76,879,927 (GRCm39) N632T probably benign Het
Ccm2 T C 11: 6,546,302 (GRCm39) S435P probably damaging Het
Cd36 A G 5: 18,019,187 (GRCm39) L178P probably damaging Het
Cd7 T C 11: 120,929,075 (GRCm39) I59V probably benign Het
Cds2 T A 2: 132,135,204 (GRCm39) S32T probably benign Het
Cep19 A G 16: 31,925,904 (GRCm39) D104G probably damaging Het
Col1a2 C T 6: 4,510,753 (GRCm39) P68S unknown Het
Col20a1 A G 2: 180,649,024 (GRCm39) H1011R probably damaging Het
Cspg4b A T 13: 113,504,463 (GRCm39) D1864V Het
D7Ertd443e A G 7: 133,896,851 (GRCm39) V513A probably damaging Het
Egfr C T 11: 16,818,162 (GRCm39) P228L probably damaging Het
Fam243 C T 16: 92,118,037 (GRCm39) V84M probably damaging Het
Fam78b A G 1: 166,906,131 (GRCm39) R97G probably damaging Het
Flt1 C T 5: 147,540,386 (GRCm39) V768M probably damaging Het
Gdap1l1 A T 2: 163,288,050 (GRCm39) N96Y probably damaging Het
Gm7168 T A 17: 14,169,622 (GRCm39) Y330N probably benign Het
Hnrnpul1 T C 7: 25,424,203 (GRCm39) N683S unknown Het
Ice2 C T 9: 69,335,782 (GRCm39) P922S possibly damaging Het
Iglv2 A G 16: 19,079,260 (GRCm39) V81A not run Het
Irs1 A G 1: 82,265,177 (GRCm39) I1013T probably benign Het
Itih4 T C 14: 30,621,432 (GRCm39) S832P probably damaging Het
Klhl1 A T 14: 96,517,513 (GRCm39) Y388N probably benign Het
Lrrc37a G A 11: 103,348,601 (GRCm39) S2698L unknown Het
Map4k4 T C 1: 40,058,829 (GRCm39) Y1008H possibly damaging Het
Mdn1 G T 4: 32,701,823 (GRCm39) G1519W probably damaging Het
Mga T A 2: 119,747,809 (GRCm39) D653E probably damaging Het
Npas1 T C 7: 16,208,733 (GRCm39) E48G probably damaging Het
Nup188 G A 2: 30,231,842 (GRCm39) probably null Het
Or1p1b G T 11: 74,130,394 (GRCm39) M1I probably null Het
Or3a4 T A 11: 73,945,223 (GRCm39) M121L probably damaging Het
Or4c110 G A 2: 88,832,075 (GRCm39) L186F Het
Or51a39 A G 7: 102,362,873 (GRCm39) V249A possibly damaging Het
Or55b4 A T 7: 102,133,574 (GRCm39) V251D probably damaging Het
Or7h8 A G 9: 20,123,840 (GRCm39) N65S probably damaging Het
Oxct1 T C 15: 4,158,383 (GRCm39) V439A probably damaging Het
Pcdhb22 G T 18: 37,652,341 (GRCm39) G13W probably damaging Het
Pex11g A G 8: 3,509,237 (GRCm39) V230A probably benign Het
Pop1 C T 15: 34,510,525 (GRCm39) S439L probably damaging Het
Ptpn9 T A 9: 56,929,533 (GRCm39) H83Q probably benign Het
Qrfp C T 2: 31,698,704 (GRCm39) R76H probably benign Het
Slc30a3 A G 5: 31,246,139 (GRCm39) V197A probably benign Het
Slc8a3 T C 12: 81,361,047 (GRCm39) N591D possibly damaging Het
Sp4 G T 12: 118,263,807 (GRCm39) Q80K possibly damaging Het
Spock1 C T 13: 58,055,316 (GRCm39) G29D possibly damaging Het
Sprr1a G T 3: 92,391,674 (GRCm39) P109Q probably damaging Het
Suz12 T A 11: 79,904,309 (GRCm39) F239L probably damaging Het
Tbx3 A G 5: 119,813,648 (GRCm39) Y248C probably damaging Het
Trabd2b T C 4: 114,266,637 (GRCm39) L217P probably damaging Het
Vmn1r173 T A 7: 23,401,884 (GRCm39) S40T probably damaging Het
Vmn2r2 T C 3: 64,023,900 (GRCm39) S894G probably benign Het
Vmn2r65 A G 7: 84,592,347 (GRCm39) probably null Het
Vps13c G A 9: 67,853,107 (GRCm39) G2400D possibly damaging Het
Vps8 T C 16: 21,275,032 (GRCm39) Y197H probably damaging Het
Wdr91 T C 6: 34,866,209 (GRCm39) N486D possibly damaging Het
Wwp1 A G 4: 19,627,908 (GRCm39) I695T possibly damaging Het
Zc3hc1 T C 6: 30,382,547 (GRCm39) D133G probably benign Het
Zcchc14 T C 8: 122,335,200 (GRCm39) I307V unknown Het
Zfp933 G A 4: 147,910,636 (GRCm39) T320I probably benign Het
Other mutations in Ubxn11
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6901:Ubxn11 UTSW 4 133,853,575 (GRCm39) missense probably damaging 0.99
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

Sequencing Primer
Posted On 2019-06-26