Incidental Mutation 'IGL00953:Upk1b'
ID 29177
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Upk1b
Ensembl Gene ENSMUSG00000049436
Gene Name uroplakin 1B
Synonyms Tspan20, Upk1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00953
Quality Score
Status
Chromosome 16
Chromosomal Location 38593544-38620565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38600347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 211 (G211D)
Ref Sequence ENSEMBL: ENSMUSP00000052469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057767]
AlphaFold Q9Z2C6
Predicted Effect possibly damaging
Transcript: ENSMUST00000057767
AA Change: G211D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052469
Gene: ENSMUSG00000049436
AA Change: G211D

DomainStartEndE-ValueType
Pfam:Tetraspannin 10 258 6.9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232536
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can form a complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a reporter allele are viable, fertile, and physically and behaviorally normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,902,047 (GRCm39) E726G probably benign Het
Cdyl2 T A 8: 117,321,928 (GRCm39) probably benign Het
Cep41 T C 6: 30,660,966 (GRCm39) T109A probably benign Het
Clca3b C T 3: 144,552,972 (GRCm39) W84* probably null Het
Cyp27b1 A G 10: 126,885,551 (GRCm39) D130G probably benign Het
Cyp2f2 T C 7: 26,829,242 (GRCm39) V249A possibly damaging Het
Cyth3 G A 5: 143,692,920 (GRCm39) probably null Het
Dnah8 G T 17: 30,925,431 (GRCm39) E1289* probably null Het
Fam171a1 A T 2: 3,179,327 (GRCm39) D51V possibly damaging Het
Farp2 A G 1: 93,488,896 (GRCm39) R107G possibly damaging Het
Gemin6 T C 17: 80,535,294 (GRCm39) F85L possibly damaging Het
Hivep3 A C 4: 119,955,571 (GRCm39) T1296P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Htt T A 5: 34,976,021 (GRCm39) S670T probably benign Het
Klhl24 A T 16: 19,941,717 (GRCm39) N555I possibly damaging Het
Limd1 T A 9: 123,308,948 (GRCm39) S216T probably benign Het
Lmf2 A T 15: 89,238,102 (GRCm39) I234N probably damaging Het
Mrpl4 C A 9: 20,919,863 (GRCm39) D271E probably benign Het
Mydgf C T 17: 56,486,407 (GRCm39) G75R probably damaging Het
Nat1 A G 8: 67,943,630 (GRCm39) D5G possibly damaging Het
Or2t46 T C 11: 58,472,636 (GRCm39) V322A probably benign Het
Or5h22 A T 16: 58,895,052 (GRCm39) Y130* probably null Het
Or5k15 A C 16: 58,710,048 (GRCm39) H178Q probably damaging Het
Pla2g4c T A 7: 13,077,951 (GRCm39) M363K probably benign Het
Prex1 A G 2: 166,480,329 (GRCm39) F137S probably damaging Het
Rbm12b1 A G 4: 12,146,038 (GRCm39) D670G probably damaging Het
Rrp12 C A 19: 41,860,231 (GRCm39) M997I possibly damaging Het
Scn3a A G 2: 65,327,736 (GRCm39) V918A probably benign Het
Slc35g2 A G 9: 100,434,516 (GRCm39) V385A probably damaging Het
Slit1 A T 19: 41,590,739 (GRCm39) I1311N probably damaging Het
Ube2j2 C T 4: 156,030,834 (GRCm39) probably benign Het
Ucp2 A G 7: 100,147,629 (GRCm39) T203A probably benign Het
Vmn1r220 A T 13: 23,367,935 (GRCm39) F254I probably benign Het
Zcchc4 T C 5: 52,965,638 (GRCm39) F314S probably damaging Het
Other mutations in Upk1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Upk1b APN 16 38,600,378 (GRCm39) missense possibly damaging 0.93
IGL02879:Upk1b APN 16 38,596,640 (GRCm39) splice site probably benign
IGL03067:Upk1b APN 16 38,605,272 (GRCm39) missense probably damaging 1.00
R0969:Upk1b UTSW 16 38,607,661 (GRCm39) splice site probably benign
R1755:Upk1b UTSW 16 38,600,402 (GRCm39) missense probably benign 0.04
R1916:Upk1b UTSW 16 38,596,548 (GRCm39) critical splice donor site probably null
R1989:Upk1b UTSW 16 38,604,603 (GRCm39) missense possibly damaging 0.94
R2101:Upk1b UTSW 16 38,600,499 (GRCm39) nonsense probably null
R2375:Upk1b UTSW 16 38,607,490 (GRCm39) missense probably damaging 1.00
R4564:Upk1b UTSW 16 38,600,469 (GRCm39) missense probably benign 0.00
R4796:Upk1b UTSW 16 38,607,604 (GRCm39) missense probably benign 0.28
R8263:Upk1b UTSW 16 38,604,585 (GRCm39) missense probably damaging 1.00
R8788:Upk1b UTSW 16 38,607,463 (GRCm39) missense probably damaging 1.00
R9008:Upk1b UTSW 16 38,607,570 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17