Incidental Mutation 'IGL03067:Upk1b'
ID 409730
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 # IGL03067
Quality Score
Status
Chromosome 16
Chromosomal Location 38593544-38620565 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 38605272 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 107 (I107T)
Ref Sequence ENSEMBL: ENSMUSP00000052469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057767]
AlphaFold Q9Z2C6
Predicted Effect probably damaging
Transcript: ENSMUST00000057767
AA Change: I107T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052469
Gene: ENSMUSG00000049436
AA Change: I107T

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 A T 11: 119,900,909 (GRCm39) D1162E probably benign Het
Abhd2 T C 7: 79,009,782 (GRCm39) F386L probably benign Het
Adamts6 C T 13: 104,433,783 (GRCm39) R71W probably damaging Het
Adgrv1 T C 13: 81,590,599 (GRCm39) Y4403C probably damaging Het
Aldoart1 A T 4: 72,770,194 (GRCm39) C205S possibly damaging Het
Ap2a1 C A 7: 44,552,935 (GRCm39) A711S probably benign Het
Arhgef28 A G 13: 98,124,794 (GRCm39) I496T probably benign Het
Cyp27a1 A G 1: 74,771,068 (GRCm39) probably null Het
Cyp2c69 C T 19: 39,869,537 (GRCm39) G161S probably benign Het
Dpy19l1 A G 9: 24,349,956 (GRCm39) V428A probably benign Het
Foxk2 C T 11: 121,176,394 (GRCm39) T180M possibly damaging Het
Gm3402 C A 5: 146,451,399 (GRCm39) H86N possibly damaging Het
Gm3543 A G 14: 41,802,830 (GRCm39) probably benign Het
Gnai3 T C 3: 108,025,609 (GRCm39) probably benign Het
Hmcn2 C T 2: 31,236,642 (GRCm39) P395L probably damaging Het
Igsf10 T C 3: 59,226,339 (GRCm39) I2445V probably benign Het
Il10ra T C 9: 45,167,157 (GRCm39) T465A probably benign Het
Itpr2 G A 6: 146,226,680 (GRCm39) L1322F probably damaging Het
Man1b1 T C 2: 25,239,344 (GRCm39) Y536H probably benign Het
P3h1 A G 4: 119,092,477 (GRCm39) H170R probably damaging Het
Pakap A T 4: 57,648,038 (GRCm39) T59S probably benign Het
Parp14 A G 16: 35,676,878 (GRCm39) V1030A probably benign Het
Pdzd2 A G 15: 12,388,628 (GRCm39) probably null Het
Pilra T C 5: 137,821,843 (GRCm39) Y264C probably damaging Het
Ptprf A G 4: 118,067,910 (GRCm39) V1799A possibly damaging Het
Rap1gap2 A G 11: 74,284,238 (GRCm39) S649P possibly damaging Het
Rasgrf2 T C 13: 92,159,413 (GRCm39) M426V probably damaging Het
Rpl9 A G 5: 65,548,191 (GRCm39) I18T possibly damaging Het
Slc6a19 C A 13: 73,837,849 (GRCm39) E217* probably null Het
Smtn C A 11: 3,480,165 (GRCm39) R352L possibly damaging Het
Supv3l1 C A 10: 62,265,600 (GRCm39) D647Y probably damaging Het
Sv2a A G 3: 96,092,498 (GRCm39) Y66C probably damaging Het
Yif1a T C 19: 5,139,813 (GRCm39) V86A possibly damaging Het
Zfp820 T C 17: 22,038,801 (GRCm39) T176A possibly damaging Het
Other mutations in Upk1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Upk1b APN 16 38,600,378 (GRCm39) missense possibly damaging 0.93
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
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 2016-08-02