Incidental Mutation 'R7434:Upk1a'
ID 576628
Institutional Source Beutler Lab
Gene Symbol Upk1a
Ensembl Gene ENSMUSG00000006313
Gene Name uroplakin 1A
Synonyms Upk1, 1110031P12Rik, Tspan21
MMRRC Submission 045511-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R7434 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 30302517-30312159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30306617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 99 (M99K)
Ref Sequence ENSEMBL: ENSMUSP00000006476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006476]
AlphaFold Q9D132
Predicted Effect probably damaging
Transcript: ENSMUST00000006476
AA Change: M99K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006476
Gene: ENSMUSG00000006313
AA Change: M99K

DomainStartEndE-ValueType
Pfam:Tetraspannin 14 257 1.8e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
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 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 protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,344,115 (GRCm39) V1731A probably damaging Het
Bcat2 A G 7: 45,225,429 (GRCm39) probably null Het
Bcl6 T G 16: 23,788,798 (GRCm39) E523D possibly damaging Het
Cdcp3 C T 7: 130,881,212 (GRCm39) S1828F unknown Het
Col4a2 T A 8: 11,471,250 (GRCm39) N503K probably damaging Het
Cyb5r1 G A 1: 134,335,576 (GRCm39) C166Y probably benign Het
Cyp2w1 T C 5: 139,342,775 (GRCm39) V490A possibly damaging Het
Erich6b A G 14: 75,901,024 (GRCm39) I113V probably benign Het
Fabp12 C T 3: 10,312,738 (GRCm39) V95I probably benign Het
Gask1b T A 3: 79,848,669 (GRCm39) F472I probably damaging Het
Gpr3 T C 4: 132,938,448 (GRCm39) M75V probably benign Het
Grm5 T G 7: 87,779,682 (GRCm39) S1073A probably benign Het
Hoxc9 A G 15: 102,892,414 (GRCm39) K209R probably damaging Het
Irgm2 T G 11: 58,110,291 (GRCm39) V6G probably benign Het
Jakmip2 A G 18: 43,690,444 (GRCm39) V627A possibly damaging Het
Kansl1l C G 1: 66,801,262 (GRCm39) S568T probably damaging Het
Lims1 A G 10: 58,230,301 (GRCm39) T21A probably benign Het
Lpar2 G T 8: 70,279,165 (GRCm39) A320S probably benign Het
Lpcat4 A G 2: 112,073,400 (GRCm39) N235S probably damaging Het
Ly6g2 T C 15: 75,088,567 (GRCm39) F12L probably benign Het
Meis1 A T 11: 18,835,542 (GRCm39) S359T unknown Het
Mtor C T 4: 148,549,416 (GRCm39) T600I probably benign Het
Ncbp1 T C 4: 46,149,910 (GRCm39) S144P probably damaging Het
Ncor1 T C 11: 62,274,025 (GRCm39) E205G probably damaging Het
Nid1 T C 13: 13,643,049 (GRCm39) I329T probably benign Het
Nos3 T C 5: 24,587,633 (GRCm39) I1031T probably damaging Het
Nyap1 A G 5: 137,734,530 (GRCm39) S168P probably damaging Het
Or56a4 A G 7: 104,806,106 (GRCm39) V261A probably damaging Het
Pam T A 1: 97,903,515 (GRCm39) K73* probably null Het
Pcdhga11 T C 18: 37,891,005 (GRCm39) V671A probably benign Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Ric1 A G 19: 29,552,180 (GRCm39) D317G probably damaging Het
Scn1a T C 2: 66,103,389 (GRCm39) E1957G probably benign Het
Srcap T C 7: 127,159,414 (GRCm39) S3097P unknown Het
Tas2r113 C T 6: 132,870,272 (GRCm39) T100I probably benign Het
Tnni1 A G 1: 135,735,260 (GRCm39) D57G Het
Trim29 G A 9: 43,246,428 (GRCm39) V575I probably damaging Het
Trpv3 G A 11: 73,179,087 (GRCm39) V499M probably damaging Het
Ubr1 C T 2: 120,693,161 (GRCm39) M1748I probably benign Het
Usp16 T A 16: 87,276,207 (GRCm39) L515* probably null Het
Vmn1r103 T C 7: 20,244,435 (GRCm39) K9E probably damaging Het
Vwde A G 6: 13,187,639 (GRCm39) V616A probably benign Het
Zfp101 A T 17: 33,600,564 (GRCm39) S397R possibly damaging Het
Other mutations in Upk1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02901:Upk1a APN 7 30,303,204 (GRCm39) missense possibly damaging 0.94
IGL03250:Upk1a APN 7 30,306,403 (GRCm39) missense possibly damaging 0.57
R0123:Upk1a UTSW 7 30,311,819 (GRCm39) missense possibly damaging 0.92
R1480:Upk1a UTSW 7 30,306,311 (GRCm39) missense probably benign
R1566:Upk1a UTSW 7 30,309,145 (GRCm39) missense possibly damaging 0.71
R4669:Upk1a UTSW 7 30,304,554 (GRCm39) missense probably benign 0.22
R6019:Upk1a UTSW 7 30,311,810 (GRCm39) critical splice donor site probably null
R7113:Upk1a UTSW 7 30,309,236 (GRCm39) missense probably damaging 0.98
R8428:Upk1a UTSW 7 30,303,043 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAGGGATGGGAGCCTACTG -3'
(R):5'- AGTGTCGAGTTTTCAATCTCCC -3'

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