Incidental Mutation 'IGL02879:Upk1b'
| ID |
362761 |
| 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)
|
| Stock # |
IGL02879
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38593544-38620565 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 38596640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057767]
|
| AlphaFold |
Q9Z2C6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057767
|
| SMART Domains |
Protein: ENSMUSP00000052469
Gene: ENSMUSG00000049436
| Domain | Start | End | E-Value | Type |
|---|
|
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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
G |
5: 81,659,966 (GRCm39) |
Y245C |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 31,051,067 (GRCm39) |
R507H |
probably damaging |
Het |
| Cacna1g |
A |
C |
11: 94,300,431 (GRCm39) |
I2118S |
probably benign |
Het |
| Col3a1 |
A |
T |
1: 45,380,119 (GRCm39) |
|
probably benign |
Het |
| Ecscr |
T |
C |
18: 35,846,731 (GRCm39) |
N221S |
possibly damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,841 (GRCm39) |
D231G |
probably benign |
Het |
| Fastkd5 |
A |
G |
2: 130,456,341 (GRCm39) |
Y750H |
probably damaging |
Het |
| Gm42688 |
A |
G |
6: 83,084,125 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gtse1 |
T |
C |
15: 85,753,264 (GRCm39) |
|
probably benign |
Het |
| Il4ra |
A |
G |
7: 125,176,069 (GRCm39) |
E759G |
possibly damaging |
Het |
| Itgb4 |
A |
G |
11: 115,885,178 (GRCm39) |
D1019G |
probably benign |
Het |
| Kcnh1 |
T |
C |
1: 191,959,223 (GRCm39) |
V259A |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,965,270 (GRCm39) |
L15F |
probably damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,993,422 (GRCm39) |
T1686S |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,146,697 (GRCm39) |
L2856V |
possibly damaging |
Het |
| Nkapd1 |
C |
T |
9: 50,520,671 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,498,796 (GRCm39) |
C1568S |
probably damaging |
Het |
| Pld5 |
T |
A |
1: 175,798,157 (GRCm39) |
K352I |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,467,811 (GRCm39) |
D339G |
probably benign |
Het |
| Ptbp2 |
A |
G |
3: 119,534,054 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,163,873 (GRCm39) |
D847G |
probably benign |
Het |
| Rin1 |
C |
T |
19: 5,101,383 (GRCm39) |
T89I |
probably damaging |
Het |
| Runx1t1 |
T |
C |
4: 13,889,868 (GRCm39) |
I599T |
unknown |
Het |
| Serinc3 |
A |
G |
2: 163,474,172 (GRCm39) |
|
probably benign |
Het |
| Slc27a5 |
C |
T |
7: 12,728,971 (GRCm39) |
|
probably benign |
Het |
| Terf2 |
C |
T |
8: 107,803,329 (GRCm39) |
S417N |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,325,612 (GRCm39) |
V500A |
probably damaging |
Het |
| Vmn1r81 |
C |
T |
7: 11,994,319 (GRCm39) |
M96I |
probably benign |
Het |
| Vmn2r11 |
A |
T |
5: 109,201,704 (GRCm39) |
Y267N |
possibly damaging |
Het |
|
| Other mutations in Upk1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
2015-12-18 |
Incidental Mutation