Incidental Mutation 'IGL00484:Upk1b'
ID 3974
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 # IGL00484
Quality Score
Status
Chromosome 16
Chromosomal Location 38593544-38620565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 38600378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Histidine at position 201 (N201H)
Ref Sequence ENSEMBL: ENSMUSP00000052469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057767]
AlphaFold Q9Z2C6
Predicted Effect possibly damaging
Transcript: ENSMUST00000057767
AA Change: N201H

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000052469
Gene: ENSMUSG00000049436
AA Change: N201H

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 A G 7: 139,455,860 (GRCm39) Q496R probably benign Het
Ankrd17 A T 5: 90,416,220 (GRCm39) S1151T probably damaging Het
Ankrd55 A G 13: 112,504,328 (GRCm39) K330R probably benign Het
Anln A T 9: 22,272,120 (GRCm39) Y666* probably null Het
Atp1a2 A G 1: 172,103,569 (GRCm39) W984R probably damaging Het
Atp8b3 G T 10: 80,361,998 (GRCm39) probably benign Het
Casc3 A G 11: 98,714,028 (GRCm39) E420G possibly damaging Het
Cep250 G A 2: 155,833,249 (GRCm39) D1724N probably benign Het
Dhx15 T G 5: 52,324,154 (GRCm39) E379D probably benign Het
Dock1 T A 7: 134,748,260 (GRCm39) probably benign Het
Exph5 C T 9: 53,288,006 (GRCm39) Q1696* probably null Het
Fkbp6 C A 5: 135,368,802 (GRCm39) A213S possibly damaging Het
Fndc4 A G 5: 31,450,840 (GRCm39) probably benign Het
Gli3 A T 13: 15,818,977 (GRCm39) T260S possibly damaging Het
Glmp T A 3: 88,233,169 (GRCm39) probably null Het
H2ac22 G T 13: 21,971,091 (GRCm39) R100S probably benign Het
Hapstr1 T C 16: 8,649,175 (GRCm39) probably benign Het
Ighv1-19 G A 12: 114,672,329 (GRCm39) T97I probably benign Het
Kdm6b T C 11: 69,297,132 (GRCm39) S407G possibly damaging Het
Lrp1b T C 2: 41,000,873 (GRCm39) Y2231C probably damaging Het
Lyst T A 13: 13,884,188 (GRCm39) S2999T probably benign Het
Lztr1 T C 16: 17,335,314 (GRCm39) probably benign Het
N4bp2 T C 5: 65,964,867 (GRCm39) V972A probably damaging Het
Ncoa6 A T 2: 155,248,128 (GRCm39) S1725R probably damaging Het
Nfkbiz A G 16: 55,638,272 (GRCm39) V396A probably benign Het
Nup205 A G 6: 35,191,737 (GRCm39) Q1074R probably damaging Het
Pard3 T C 8: 128,098,327 (GRCm39) V456A probably benign Het
Peli1 T A 11: 21,096,952 (GRCm39) V114E probably damaging Het
Phf20l1 T G 15: 66,487,482 (GRCm39) probably benign Het
Pik3r1 A C 13: 101,838,255 (GRCm39) I267S probably benign Het
Polh C T 17: 46,483,169 (GRCm39) probably benign Het
Ppl A G 16: 4,905,816 (GRCm39) I1493T probably benign Het
Pramel19 T C 4: 101,798,898 (GRCm39) F290L probably benign Het
Pramel28 G A 4: 143,693,184 (GRCm39) probably benign Het
Prg3 A G 2: 84,819,091 (GRCm39) I6V probably benign Het
Ptprg T C 14: 12,215,220 (GRCm38) V1069A probably damaging Het
Rasal2 A T 1: 157,001,745 (GRCm39) probably null Het
Slc36a2 A T 11: 55,053,614 (GRCm39) Y341* probably null Het
Snapc3 A G 4: 83,354,633 (GRCm39) I215V probably damaging Het
Srrm2 T A 17: 24,037,492 (GRCm39) S1475T probably benign Het
Sycp2 A T 2: 178,024,141 (GRCm39) D414E probably damaging Het
Tanc1 A G 2: 59,623,520 (GRCm39) T468A probably benign Het
Tfap2d A G 1: 19,213,105 (GRCm39) T310A probably benign Het
Tgfbr2 T A 9: 115,987,357 (GRCm39) I51F probably benign Het
Trip11 A T 12: 101,851,570 (GRCm39) C546* probably null Het
Ttbk2 C T 2: 120,604,367 (GRCm39) W210* probably null Het
Uqcc5 T A 14: 30,810,879 (GRCm39) probably benign Het
Ush2a A T 1: 188,514,710 (GRCm39) T3180S probably benign Het
Vps13d T G 4: 144,853,145 (GRCm39) Q2323P probably benign Het
Zfp810 A T 9: 22,189,605 (GRCm39) Y434* probably null Het
Other mutations in Upk1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Upk1b APN 16 38,600,347 (GRCm39) missense possibly damaging 0.95
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 2012-04-20