Incidental Mutation 'R7453:Ubxn11'
ID 577873
Institutional Source Beutler Lab
Gene Symbol Ubxn11
Ensembl Gene ENSMUSG00000012126
Gene Name UBX domain protein 11
Synonyms 4930506L07Rik, Soci, Ubxd5
MMRRC Submission 045527-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R7453 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 133829811-133854095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 133853540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 364 (R364Q)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
coiled coil region 333 656 N/A INTRINSIC
coiled coil region 725 749 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000070246
AA Change: R246Q

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000064030
Gene: ENSMUSG00000012126
AA Change: R246Q

DomainStartEndE-ValueType
Pfam:SEP 114 185 1.5e-20 PFAM
UBX 268 350 2.3e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074690
AA Change: R364Q

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074255
Gene: ENSMUSG00000012126
AA Change: R364Q

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: ENSMUST00000121566
SMART Domains Protein: ENSMUSP00000113351
Gene: ENSMUSG00000037443

DomainStartEndE-ValueType
coiled coil region 331 654 N/A INTRINSIC
coiled coil region 723 747 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151113
AA Change: R113Q

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122892
Gene: ENSMUSG00000012126
AA Change: R113Q

DomainStartEndE-ValueType
Blast:SEP 15 64 2e-13 BLAST
SCOP:d1i42a_ 129 173 4e-5 SMART
Blast:UBX 135 174 1e-20 BLAST
Meta Mutation Damage Score 0.0672 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (122/122)
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: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik A G 2: 155,845,309 (GRCm39) S32P possibly damaging Het
Acaca T C 11: 84,136,136 (GRCm39) V497A probably benign Het
Acox1 T C 11: 116,071,787 (GRCm39) T214A probably benign Het
Adgrb2 G A 4: 129,908,430 (GRCm39) probably null Het
Adh1 G A 3: 137,995,702 (GRCm39) probably null Het
Angptl1 G T 1: 156,672,421 (GRCm39) M82I probably benign Het
Arg1 A G 10: 24,791,674 (GRCm39) L269P probably damaging Het
Arid2 T G 15: 96,268,605 (GRCm39) V906G probably benign Het
Arid5b A T 10: 68,078,994 (GRCm39) H114Q probably benign Het
Atad5 T C 11: 80,009,969 (GRCm39) probably null Het
AU040320 G A 4: 126,729,493 (GRCm39) probably null Het
B230104I21Rik A T 4: 154,432,185 (GRCm39) T44S unknown Het
BC024063 G A 10: 81,945,991 (GRCm39) R537H possibly damaging Het
Bfsp2 A T 9: 103,330,306 (GRCm39) L177Q probably damaging Het
Birc5 C A 11: 117,743,507 (GRCm39) H80Q probably damaging Het
Bpifb9a T C 2: 154,106,615 (GRCm39) L382P probably damaging Het
Ces2c A T 8: 105,576,302 (GRCm39) N105I probably benign Het
Cfap91 A G 16: 38,141,841 (GRCm39) S364P possibly damaging Het
Cflar G A 1: 58,792,956 (GRCm39) V441M Het
Ckap4 A G 10: 84,364,463 (GRCm39) V200A probably damaging Het
Clec16a C A 16: 10,462,686 (GRCm39) T668N probably damaging Het
Cntrl A C 2: 35,045,421 (GRCm39) E1376D possibly damaging Het
Col18a1 A T 10: 76,921,044 (GRCm39) probably null Het
Coq2 T C 5: 100,811,452 (GRCm39) Y179C probably benign Het
Cpne6 A G 14: 55,749,473 (GRCm39) E11G probably benign Het
Cr2 A C 1: 194,847,565 (GRCm39) probably null Het
Csf2rb2 C T 15: 78,169,491 (GRCm39) D555N probably benign Het
Cyp2j12 A T 4: 95,990,363 (GRCm39) V401D possibly damaging Het
Dbp C T 7: 45,355,127 (GRCm39) A27V probably benign Het
Dll1 C A 17: 15,595,151 (GRCm39) R42L probably benign Het
Dst C A 1: 34,230,439 (GRCm39) H2677Q possibly damaging Het
Efl1 G T 7: 82,330,675 (GRCm39) V283F possibly damaging Het
Enah C T 1: 181,789,470 (GRCm39) C7Y unknown Het
Fam193a A T 5: 34,621,460 (GRCm39) E1139V possibly damaging Het
Fbn1 G A 2: 125,162,879 (GRCm39) P2136S possibly damaging Het
Fggy T C 4: 95,485,927 (GRCm39) V91A probably damaging Het
Fn1 T A 1: 71,630,039 (GRCm39) D2343V probably damaging Het
Galk2 T C 2: 125,729,781 (GRCm39) V54A possibly damaging Het
Glb1l T A 1: 75,179,350 (GRCm39) Y193F probably damaging Het
Gm45861 G T 8: 28,031,686 (GRCm39) R867L unknown Het
Grin2b T C 6: 135,717,947 (GRCm39) D715G possibly damaging Het
Hltf A T 3: 20,136,916 (GRCm39) R384S possibly damaging Het
Hs3st1 A G 5: 39,772,310 (GRCm39) M111T probably damaging Het
Idua A G 5: 108,829,362 (GRCm39) T388A probably benign Het
Kat14 T C 2: 144,222,654 (GRCm39) S136P possibly damaging Het
Kif24 A C 4: 41,394,673 (GRCm39) C867W possibly damaging Het
Klhdc10 T A 6: 30,447,989 (GRCm39) probably null Het
Klra10 A G 6: 130,257,327 (GRCm39) V59A probably damaging Het
Limk1 T A 5: 134,698,091 (GRCm39) I223F probably damaging Het
Lrp10 G A 14: 54,705,913 (GRCm39) G368S probably damaging Het
Lrrc7 T C 3: 157,891,046 (GRCm39) R374G probably benign Het
Lypd1 T A 1: 125,801,303 (GRCm39) M66L probably benign Het
Mast4 C T 13: 102,941,149 (GRCm39) probably null Het
Mbp C T 18: 82,572,768 (GRCm39) H155Y probably damaging Het
Micu3 G A 8: 40,788,939 (GRCm39) C150Y probably benign Het
Mras C T 9: 99,271,793 (GRCm39) V174I probably benign Het
Mroh1 T A 15: 76,317,745 (GRCm39) I827N probably damaging Het
Ms4a12 C A 19: 11,203,026 (GRCm39) G101* probably null Het
Mylk2 A T 2: 152,754,353 (GRCm39) K149M probably damaging Het
Myom3 T A 4: 135,528,346 (GRCm39) L1064I probably damaging Het
Naa30 A G 14: 49,425,144 (GRCm39) *365W probably null Het
Ncoa1 C T 12: 4,309,307 (GRCm39) G1330R probably damaging Het
Nhlh1 T A 1: 171,881,846 (GRCm39) T7S probably benign Het
Nipsnap3a A G 4: 52,995,882 (GRCm39) Q110R probably benign Het
Nostrin T C 2: 69,014,240 (GRCm39) Y399H possibly damaging Het
Nsfl1c C A 2: 151,351,431 (GRCm39) T263K possibly damaging Het
Nup153 T C 13: 46,834,657 (GRCm39) T1456A probably damaging Het
Or14j10 G T 17: 37,935,276 (GRCm39) D83E probably benign Het
Or1o2 T C 17: 37,542,871 (GRCm39) Y130C probably damaging Het
Or51e1 T A 7: 102,358,724 (GRCm39) I86N probably damaging Het
Or52z1 T A 7: 103,436,879 (GRCm39) I202F possibly damaging Het
Or5g26 T A 2: 85,494,524 (GRCm39) M85L probably benign Het
Or8d1b A T 9: 38,887,500 (GRCm39) H176L probably damaging Het
Pan3 G A 5: 147,463,491 (GRCm39) probably null Het
Pcdhgb2 C T 18: 37,824,068 (GRCm39) T353I probably damaging Het
Pcif1 A T 2: 164,730,284 (GRCm39) H339L probably damaging Het
Pcif1 A G 2: 164,731,550 (GRCm39) H501R possibly damaging Het
Pcnt T C 10: 76,225,284 (GRCm39) H1740R probably benign Het
Polr1b T A 2: 128,967,583 (GRCm39) I992N probably damaging Het
Ppfia2 C T 10: 106,763,691 (GRCm39) T1228M possibly damaging Het
Ppp2r5e A G 12: 75,509,116 (GRCm39) F388L probably damaging Het
Ptpre G T 7: 135,139,803 (GRCm39) R4L unknown Het
Pzp G T 6: 128,463,879 (GRCm39) P1410T probably damaging Het
Qrich1 A C 9: 108,433,675 (GRCm39) K656T possibly damaging Het
Rabep1 C T 11: 70,808,486 (GRCm39) P481S probably damaging Het
Rgs9 T A 11: 109,118,094 (GRCm39) R579W probably damaging Het
Rhot1 T C 11: 80,139,366 (GRCm39) probably null Het
Rnf123 T A 9: 107,947,607 (GRCm39) probably null Het
Rreb1 T G 13: 38,125,545 (GRCm39) C1284G probably damaging Het
Rsph4a A G 10: 33,785,289 (GRCm39) E400G probably benign Het
Rufy4 T A 1: 74,168,493 (GRCm39) probably null Het
S100pbp A G 4: 129,075,878 (GRCm39) L149P probably damaging Het
Sall3 T C 18: 81,015,255 (GRCm39) D891G probably benign Het
Scn10a C T 9: 119,467,618 (GRCm39) V841I probably benign Het
Scn5a T A 9: 119,351,656 (GRCm39) Y775F possibly damaging Het
Sec62 A T 3: 30,863,945 (GRCm39) probably null Het
Slc24a1 A T 9: 64,856,583 (GRCm39) M108K unknown Het
Spata22 T A 11: 73,226,816 (GRCm39) probably null Het
Spmap2l A G 5: 77,208,633 (GRCm39) H387R probably damaging Het
Stk4 A G 2: 163,928,522 (GRCm39) N118S probably benign Het
Stt3a A T 9: 36,659,266 (GRCm39) S358T possibly damaging Het
Tbc1d31 T A 15: 57,814,391 (GRCm39) F531I probably damaging Het
Tfrc A G 16: 32,437,867 (GRCm39) T307A probably damaging Het
Tnpo2 T C 8: 85,781,651 (GRCm39) I811T probably damaging Het
Ttc23l T C 15: 10,533,853 (GRCm39) Y230C probably damaging Het
Ttll13 A G 7: 79,910,182 (GRCm39) D775G probably benign Het
Ttn T C 2: 76,775,273 (GRCm39) K1969R unknown Het
Ube2s G A 7: 4,813,435 (GRCm39) R110* probably null Het
Unc13d T C 11: 115,958,697 (GRCm39) Q773R probably benign Het
Ush2a T C 1: 188,285,308 (GRCm39) V1948A probably damaging Het
Vmn1r205 A T 13: 22,776,931 (GRCm39) I57N probably damaging Het
Vmn2r69 GAAAA GAAAAA 7: 85,060,768 (GRCm39) probably null Het
Vmn2r71 A T 7: 85,273,297 (GRCm39) T704S probably benign Het
Vmn2r93 T A 17: 18,533,580 (GRCm39) S495T probably benign Het
Wiz T A 17: 32,598,049 (GRCm39) I102F probably benign Het
Zan A C 5: 137,464,264 (GRCm39) L514V probably damaging Het
Zfp106 T A 2: 120,341,008 (GRCm39) N1857I probably damaging Het
Zfp106 A T 2: 120,376,400 (GRCm39) probably null Het
Zfp738 T C 13: 67,818,474 (GRCm39) T506A probably benign Het
Zfp934 T C 13: 62,666,517 (GRCm39) N53S 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
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
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'- ACGCTGGACTTGGAGAATGAC -3'
(R):5'- AGAGGCATTGGCATGTCAG -3'

Sequencing Primer
(F):5'- CTTGGAGAATGACAATGTCACCGTC -3'
(R):5'- CATTGGCATGTCAGGTGACTCC -3'
Posted On 2019-10-07