Incidental Mutation 'IGL02901:Upk1a'
ID 363605
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Upk1a
Ensembl Gene ENSMUSG00000006313
Gene Name uroplakin 1A
Synonyms Upk1, 1110031P12Rik, Tspan21
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL02901
Quality Score
Status
Chromosome 7
Chromosomal Location 30302517-30312159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30303204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 241 (M241K)
Ref Sequence ENSEMBL: ENSMUSP00000006476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006476] [ENSMUST00000108150]
AlphaFold Q9D132
Predicted Effect possibly damaging
Transcript: ENSMUST00000006476
AA Change: M241K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000006476
Gene: ENSMUSG00000006313
AA Change: M241K

DomainStartEndE-ValueType
Pfam:Tetraspannin 14 257 1.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108150
SMART Domains Protein: ENSMUSP00000103785
Gene: ENSMUSG00000006310

DomainStartEndE-ValueType
ZnF_C2H2 14 36 1.67e-2 SMART
ZnF_C2H2 41 63 2.4e-3 SMART
low complexity region 81 101 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144532
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,403,524 (GRCm39) Y189N probably damaging Het
Ahdc1 A G 4: 132,792,245 (GRCm39) D1162G possibly damaging Het
Alpk2 A G 18: 65,439,482 (GRCm39) M637T probably benign Het
Arvcf G A 16: 18,216,992 (GRCm39) A440T probably damaging Het
BC051665 A T 13: 60,932,532 (GRCm39) V51E probably damaging Het
Clca3a2 A T 3: 144,522,529 (GRCm39) V164E probably damaging Het
Cox6a2 A C 7: 127,805,454 (GRCm39) L5R probably damaging Het
Cpsf1 A T 15: 76,483,696 (GRCm39) L849* probably null Het
Dclk1 A G 3: 55,395,208 (GRCm39) probably benign Het
Fam120b T A 17: 15,627,964 (GRCm39) probably benign Het
Iqub A G 6: 24,454,194 (GRCm39) L563P probably damaging Het
Itgb3 A T 11: 104,528,772 (GRCm39) I300F probably benign Het
Mdga2 A G 12: 66,844,583 (GRCm39) probably benign Het
Mfsd6 A G 1: 52,747,632 (GRCm39) I411T probably benign Het
Misp A T 10: 79,662,771 (GRCm39) Y396F possibly damaging Het
Nhsl2 T A X: 101,122,849 (GRCm39) V884D probably benign Het
Nxf7 A T X: 134,487,984 (GRCm39) probably null Het
Or10al4 T A 17: 38,037,311 (GRCm39) I132K probably damaging Het
Or4b12 G A 2: 90,096,052 (GRCm39) H241Y probably damaging Het
Palld T A 8: 62,330,029 (GRCm39) K283* probably null Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Proc T G 18: 32,256,678 (GRCm39) T330P possibly damaging Het
Prpf38a T C 4: 108,425,615 (GRCm39) D221G probably damaging Het
Prss55 T A 14: 64,314,576 (GRCm39) N198I probably damaging Het
Rabggta A G 14: 55,959,138 (GRCm39) S10P probably benign Het
Sbk2 A G 7: 4,960,289 (GRCm39) Y294H possibly damaging Het
Smyd1 A G 6: 71,215,614 (GRCm39) V115A probably benign Het
Trpm7 A G 2: 126,649,207 (GRCm39) probably null Het
Ttc21a A G 9: 119,787,347 (GRCm39) N751S probably damaging Het
Vmn2r71 A C 7: 85,268,470 (GRCm39) E224D probably benign Het
Vmn2r81 C T 10: 79,106,564 (GRCm39) T514I probably damaging Het
Zkscan16 T C 4: 58,946,283 (GRCm39) W53R probably damaging Het
Other mutations in Upk1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7434:Upk1a UTSW 7 30,306,617 (GRCm39) missense probably damaging 0.99
R8428:Upk1a UTSW 7 30,303,043 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18