Incidental Mutation 'R3403:Upk3a'
| ID |
259262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Upk3a
|
| Ensembl Gene |
ENSMUSG00000022435 |
| Gene Name |
uroplakin 3A |
| Synonyms |
Upk3, 1110017C07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R3403 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
84901342-84906748 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 84902384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023070]
|
| AlphaFold |
Q9JKX8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023070
|
| SMART Domains |
Protein: ENSMUSP00000023070
Gene: ENSMUSG00000022435
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230801
|
| Meta Mutation Damage Score |
0.9491 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice exhibit urogenital defects including abnormal urothelium, vesicoureteral reflux, and hydronephrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
T |
C |
1: 78,673,839 (GRCm39) |
V333A |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,104,176 (GRCm39) |
R1156C |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,621,985 (GRCm39) |
E415G |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,687,604 (GRCm39) |
I465F |
probably benign |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,403,407 (GRCm39) |
N189D |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ndrg3 |
C |
T |
2: 156,790,208 (GRCm39) |
V92M |
probably damaging |
Het |
| Or5ac20 |
G |
C |
16: 59,104,475 (GRCm39) |
N128K |
probably benign |
Het |
| Pacs2 |
T |
C |
12: 113,014,570 (GRCm39) |
S214P |
probably damaging |
Het |
| Rad51 |
T |
A |
2: 118,951,025 (GRCm39) |
|
probably benign |
Het |
| Rtn4 |
T |
C |
11: 29,657,690 (GRCm39) |
S499P |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,703,110 (GRCm39) |
H161R |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,549,845 (GRCm39) |
E701V |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,917,745 (GRCm39) |
E167G |
probably benign |
Het |
|
| Other mutations in Upk3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Upk3a
|
APN |
15 |
84,903,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1298:Upk3a
|
UTSW |
15 |
84,904,752 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1791:Upk3a
|
UTSW |
15 |
84,904,815 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2092:Upk3a
|
UTSW |
15 |
84,902,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2924:Upk3a
|
UTSW |
15 |
84,902,350 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2925:Upk3a
|
UTSW |
15 |
84,902,350 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3402:Upk3a
|
UTSW |
15 |
84,902,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4574:Upk3a
|
UTSW |
15 |
84,904,752 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4896:Upk3a
|
UTSW |
15 |
84,903,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5893:Upk3a
|
UTSW |
15 |
84,903,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Upk3a
|
UTSW |
15 |
84,905,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Upk3a
|
UTSW |
15 |
84,903,709 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7486:Upk3a
|
UTSW |
15 |
84,902,225 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9602:Upk3a
|
UTSW |
15 |
84,905,464 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCAGCTCCTACCCTCATTG -3'
(R):5'- TGCAGACAGTGGCTCTAAAG -3'
Sequencing Primer
(F):5'- GCCTTCCCCAGCTGTGAAC -3'
(R):5'- AAACTGGTGTGGCTCCCTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation