Incidental Mutation 'R9797:Ubxn11'
ID 734983
Institutional Source Beutler Lab
Gene Symbol Ubxn11
Ensembl Gene ENSMUSG00000012126
Gene Name UBX domain protein 11
Synonyms 4930506L07Rik, Soci, Ubxd5
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R9797 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 133829811-133854095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 133851426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 22 (T22K)
Ref Sequence ENSEMBL: ENSMUSP00000122892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030651] [ENSMUST00000070246] [ENSMUST00000074690] [ENSMUST00000105879] [ENSMUST00000151113]
AlphaFold Q9D572
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 benign
Transcript: ENSMUST00000070246
SMART Domains Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126

DomainStartEndE-ValueType
Pfam:SEP 114 185 1.5e-20 PFAM
UBX 268 350 2.3e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074690
SMART Domains Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126

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 probably benign
Transcript: ENSMUST00000151113
AA Change: T22K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122892
Gene: ENSMUSG00000012126
AA Change: T22K

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b A G 5: 26,054,895 (GRCm39) Y403C probably benign Het
Afdn A G 17: 14,066,562 (GRCm39) I600V probably benign Het
Akr1b8 G A 6: 34,333,278 (GRCm39) E52K possibly damaging Het
Alas1 A G 9: 106,113,842 (GRCm39) S468P probably damaging Het
Atp13a5 T C 16: 29,133,491 (GRCm39) T432A probably benign Het
B3glct A T 5: 149,650,304 (GRCm39) T136S probably benign Het
Bahcc1 A T 11: 120,159,147 (GRCm39) R125* probably null Het
Brat1 A G 5: 140,704,273 (GRCm39) E842G probably damaging Het
Cacna1b A G 2: 24,508,287 (GRCm39) L1830S probably damaging Het
Cd109 A G 9: 78,579,217 (GRCm39) N620D probably benign Het
Cdhr1 T A 14: 36,803,462 (GRCm39) D538V probably damaging Het
Cfap74 G A 4: 155,514,402 (GRCm39) C546Y Het
Colq T A 14: 31,250,777 (GRCm39) R343* probably null Het
Dmxl2 T C 9: 54,358,187 (GRCm39) K330R probably benign Het
Dnah5 A G 15: 28,233,316 (GRCm39) K225R probably benign Het
Dnase1l3 C T 14: 7,984,127 (GRCm38) S95N probably damaging Het
Fyco1 C A 9: 123,626,761 (GRCm39) A1317S probably benign Het
Gm9195 G A 14: 72,687,705 (GRCm39) P1944L probably damaging Het
Gse1 T G 8: 121,215,864 (GRCm39) L4R probably damaging Het
Gstm1 T C 3: 107,925,080 (GRCm39) I4M probably benign Het
Ighv2-3 A T 12: 113,574,945 (GRCm39) I70K possibly damaging Het
Krt71 C T 15: 101,645,069 (GRCm39) R414H probably damaging Het
Mcmbp T C 7: 128,317,696 (GRCm39) E183G possibly damaging Het
Med13l T C 5: 118,880,144 (GRCm39) S1079P probably damaging Het
Megf11 A G 9: 64,545,591 (GRCm39) I125V possibly damaging Het
Mtmr4 T A 11: 87,494,962 (GRCm39) V418E probably damaging Het
Mttp T C 3: 137,814,725 (GRCm39) T517A probably damaging Het
Mx1 A G 16: 97,252,893 (GRCm39) V409A probably benign Het
Olfml1 C A 7: 107,167,069 (GRCm39) H33N probably benign Het
Or13p8 A C 4: 118,584,079 (GRCm39) I212L probably benign Het
Or4k15b A T 14: 50,272,224 (GRCm39) V212D probably benign Het
Or5w19 A T 2: 87,698,478 (GRCm39) I48F possibly damaging Het
Or6k2 T C 1: 173,986,417 (GRCm39) I26T probably benign Het
Or6n1 T A 1: 173,917,356 (GRCm39) I250N possibly damaging Het
Parp12 C A 6: 39,067,185 (GRCm39) V536F probably damaging Het
Phf11a T C 14: 59,514,862 (GRCm39) E273G possibly damaging Het
Pramel27 A G 4: 143,579,818 (GRCm39) T468A possibly damaging Het
Psd3 A G 8: 68,210,778 (GRCm39) Y743H probably damaging Het
Rnf213 T A 11: 119,333,365 (GRCm39) I2859N Het
Sec23a A T 12: 59,052,060 (GRCm39) C88* probably null Het
Sepsecs A G 5: 52,826,239 (GRCm39) probably null Het
Slc35e3 G A 10: 117,572,016 (GRCm39) T293I probably benign Het
Slc49a3 G T 5: 108,593,403 (GRCm39) T145N probably benign Het
Smu1 A G 4: 40,739,538 (GRCm39) I424T possibly damaging Het
Spata16 T A 3: 26,968,925 (GRCm39) I435N probably damaging Het
Tasp1 A G 2: 139,838,015 (GRCm39) S156P probably benign Het
Tmem237 A C 1: 59,144,735 (GRCm39) S398A probably damaging Het
Ttc39c T A 18: 12,828,542 (GRCm39) L234Q probably damaging Het
Uts2r C A 11: 121,051,518 (GRCm39) S127R probably damaging Het
Vmn1r236 A G 17: 21,506,969 (GRCm39) D29G probably benign Het
Vmn2r87 A G 10: 130,308,138 (GRCm39) I700T probably damaging Het
Vmn2r87 T A 10: 130,312,064 (GRCm39) T517S probably benign Het
Vps13b T A 15: 35,675,022 (GRCm39) V1714E probably damaging Het
Wrn T A 8: 33,758,950 (GRCm39) I1003L probably benign Het
Ylpm1 A G 12: 85,077,109 (GRCm39) D1278G possibly damaging Het
Zfp1006 T A 8: 129,946,534 (GRCm39) H97L probably benign Het
Zfp955a A C 17: 33,461,888 (GRCm39) H81Q possibly damaging Het
Zfyve26 T C 12: 79,293,006 (GRCm39) T2048A probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CCCTTTAAGGTAAGCAGCAGTTC -3'
(R):5'- TCGGCGTTTGCAACTCATG -3'

Sequencing Primer
(F):5'- TTAAGGTAAGCAGCAGTTCTCAACC -3'
(R):5'- GCCCTGCCTTCTACCCGAAC -3'
Posted On 2022-11-14