Incidental Mutation 'R2943:Aqp12'
ID |
255811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aqp12
|
Ensembl Gene |
ENSMUSG00000045091 |
Gene Name |
aquaporin 12 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2943 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
92934056-92939991 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 92934387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 88
(D88V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000060622
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059676]
|
AlphaFold |
Q8CHJ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059676
AA Change: D88V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000060622 Gene: ENSMUSG00000045091 AA Change: D88V
Domain | Start | End | E-Value | Type |
Pfam:MIP
|
6 |
250 |
1.3e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191179
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice deficient for this marker have elevated total cholesterol levels and show an increased susceptibility to caerulein induced acute pancreatitis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anln |
A |
G |
9: 22,267,342 (GRCm39) |
|
probably null |
Het |
Armc5 |
A |
C |
7: 127,839,752 (GRCm39) |
N357H |
probably damaging |
Het |
Atad2b |
C |
A |
12: 4,992,067 (GRCm39) |
T222K |
probably damaging |
Het |
Carmil2 |
C |
T |
8: 106,419,564 (GRCm39) |
H815Y |
probably benign |
Het |
Chrna9 |
T |
C |
5: 66,134,438 (GRCm39) |
Y430H |
probably damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,288,004 (GRCm39) |
D83G |
probably benign |
Het |
Eps8 |
T |
C |
6: 137,499,870 (GRCm39) |
D203G |
probably damaging |
Het |
Galnt6 |
G |
T |
15: 100,612,160 (GRCm39) |
|
probably null |
Het |
Gsdmc |
C |
T |
15: 63,675,501 (GRCm39) |
V105I |
possibly damaging |
Het |
Kntc1 |
A |
G |
5: 123,935,847 (GRCm39) |
D1509G |
possibly damaging |
Het |
Lrp10 |
C |
T |
14: 54,707,302 (GRCm39) |
|
probably benign |
Het |
Mcmbp |
A |
T |
7: 128,325,697 (GRCm39) |
L97H |
probably damaging |
Het |
Mfsd2a |
A |
G |
4: 122,842,382 (GRCm39) |
L495P |
possibly damaging |
Het |
Or52s19 |
A |
G |
7: 103,007,658 (GRCm39) |
C248R |
probably damaging |
Het |
Pank4 |
G |
A |
4: 155,055,931 (GRCm39) |
V319I |
probably benign |
Het |
Pde7a |
T |
C |
3: 19,284,489 (GRCm39) |
N365D |
probably damaging |
Het |
Pot1b |
A |
T |
17: 55,981,058 (GRCm39) |
S319T |
probably benign |
Het |
Rbm25 |
T |
C |
12: 83,707,415 (GRCm39) |
I276T |
probably damaging |
Het |
Reg1 |
T |
A |
6: 78,405,128 (GRCm39) |
L117Q |
possibly damaging |
Het |
Ripor3 |
T |
C |
2: 167,825,681 (GRCm39) |
H759R |
possibly damaging |
Het |
Rph3al |
A |
T |
11: 75,725,714 (GRCm39) |
|
probably null |
Het |
S1pr4 |
A |
C |
10: 81,334,706 (GRCm39) |
L256R |
probably damaging |
Het |
Sstr4 |
T |
C |
2: 148,238,085 (GRCm39) |
V232A |
probably damaging |
Het |
Tor3a |
G |
A |
1: 156,501,665 (GRCm39) |
P71S |
probably benign |
Het |
Zfp804a |
C |
A |
2: 82,066,223 (GRCm39) |
Q65K |
probably damaging |
Het |
|
Other mutations in Aqp12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0266:Aqp12
|
UTSW |
1 |
92,934,572 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0488:Aqp12
|
UTSW |
1 |
92,936,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R0899:Aqp12
|
UTSW |
1 |
92,934,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R1673:Aqp12
|
UTSW |
1 |
92,934,606 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1714:Aqp12
|
UTSW |
1 |
92,934,681 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1928:Aqp12
|
UTSW |
1 |
92,934,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R2312:Aqp12
|
UTSW |
1 |
92,934,531 (GRCm39) |
missense |
probably benign |
0.09 |
R3803:Aqp12
|
UTSW |
1 |
92,934,088 (GRCm39) |
start gained |
probably benign |
|
R4786:Aqp12
|
UTSW |
1 |
92,934,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R7057:Aqp12
|
UTSW |
1 |
92,939,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R7372:Aqp12
|
UTSW |
1 |
92,934,088 (GRCm39) |
start gained |
probably benign |
|
R7470:Aqp12
|
UTSW |
1 |
92,936,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R7854:Aqp12
|
UTSW |
1 |
92,934,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R7921:Aqp12
|
UTSW |
1 |
92,939,730 (GRCm39) |
missense |
probably benign |
0.00 |
R9055:Aqp12
|
UTSW |
1 |
92,934,627 (GRCm39) |
missense |
probably benign |
0.10 |
X0062:Aqp12
|
UTSW |
1 |
92,936,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTAGAAGGGCATCTAAAGCCC -3'
(R):5'- ATGTACGCAGGGTTGAGCTG -3'
Sequencing Primer
(F):5'- TATGCCAGTTTTGCCCG -3'
(R):5'- GCAGTGTGCAGCCATGAG -3'
|
Posted On |
2014-12-29 |