Incidental Mutation 'R1427:Abhd12b'
| ID |
161364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd12b
|
| Ensembl Gene |
ENSMUSG00000090121 |
| Gene Name |
abhydrolase domain containing 12B |
| Synonyms |
LOC328121 |
| MMRRC Submission |
039483-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R1427 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
70200916-70230661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70229193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 223
(D223G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169156]
[ENSMUST00000182512]
[ENSMUST00000182782]
[ENSMUST00000182927]
|
| AlphaFold |
G3UZN6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162570
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169156
AA Change: D300G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134568
Gene: ENSMUSG00000090121
AA Change: D300G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_4
|
136 |
289 |
1e-16 |
PFAM |
|
Pfam:Abhydrolase_1
|
137 |
278 |
2.6e-10 |
PFAM |
|
Pfam:Abhydrolase_5
|
138 |
337 |
3.5e-22 |
PFAM |
|
Pfam:Abhydrolase_6
|
139 |
347 |
2.1e-12 |
PFAM |
|
Pfam:Peptidase_S9
|
154 |
357 |
2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182512
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182782
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182927
AA Change: D223G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138681
Gene: ENSMUSG00000090121
AA Change: D223G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Abhydrolase_5
|
61 |
260 |
1.5e-22 |
PFAM |
|
Pfam:Abhydrolase_6
|
62 |
266 |
1.8e-19 |
PFAM |
|
Pfam:Peptidase_S9
|
77 |
280 |
5.1e-8 |
PFAM |
|
Pfam:Abhydrolase_1
|
89 |
279 |
1.8e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
G |
4: 144,349,610 (GRCm39) |
N289S |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,681,691 (GRCm39) |
T333A |
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Clcnkb |
A |
G |
4: 141,132,620 (GRCm39) |
L603P |
probably damaging |
Het |
| Dchs1 |
T |
C |
7: 105,415,398 (GRCm39) |
D626G |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,911,225 (GRCm39) |
Y285H |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,893,030 (GRCm39) |
T945A |
probably benign |
Het |
| Iars1 |
A |
T |
13: 49,857,745 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 33,796,124 (GRCm39) |
F1217S |
probably damaging |
Het |
| Lipf |
T |
C |
19: 33,943,000 (GRCm39) |
F103L |
probably damaging |
Het |
| Lpar2 |
C |
A |
8: 70,276,700 (GRCm39) |
A163E |
possibly damaging |
Het |
| Myh1 |
T |
C |
11: 67,110,573 (GRCm39) |
Y1495H |
probably damaging |
Het |
| Or5p63 |
A |
G |
7: 107,811,301 (GRCm39) |
I145T |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,627,675 (GRCm39) |
L413H |
probably damaging |
Het |
| Ptpn7 |
T |
C |
1: 135,062,192 (GRCm39) |
V46A |
possibly damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sec23ip |
C |
T |
7: 128,378,609 (GRCm39) |
R808C |
probably damaging |
Het |
| Slc25a26 |
T |
C |
6: 94,487,828 (GRCm39) |
S96P |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,969,456 (GRCm39) |
R898W |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,492,255 (GRCm39) |
V1063A |
probably benign |
Het |
| Tm6sf2 |
T |
G |
8: 70,528,232 (GRCm39) |
M127R |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,583,448 (GRCm39) |
W22482R |
probably damaging |
Het |
| Zfp384 |
T |
C |
6: 125,001,847 (GRCm39) |
L109P |
probably damaging |
Het |
|
| Other mutations in Abhd12b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01306:Abhd12b
|
APN |
12 |
70,215,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02886:Abhd12b
|
APN |
12 |
70,229,740 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
ANU23:Abhd12b
|
UTSW |
12 |
70,215,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0112:Abhd12b
|
UTSW |
12 |
70,227,791 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0542:Abhd12b
|
UTSW |
12 |
70,210,269 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4782:Abhd12b
|
UTSW |
12 |
70,215,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Abhd12b
|
UTSW |
12 |
70,215,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5238:Abhd12b
|
UTSW |
12 |
70,210,142 (GRCm39) |
splice site |
probably null |
|
|
R5372:Abhd12b
|
UTSW |
12 |
70,227,800 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6974:Abhd12b
|
UTSW |
12 |
70,206,221 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8773:Abhd12b
|
UTSW |
12 |
70,213,708 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9096:Abhd12b
|
UTSW |
12 |
70,210,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Abhd12b
|
UTSW |
12 |
70,210,237 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9554:Abhd12b
|
UTSW |
12 |
70,215,988 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9738:Abhd12b
|
UTSW |
12 |
70,216,039 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Abhd12b
|
UTSW |
12 |
70,210,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAAGGTTTGCACACATGAAGCTG -3'
(R):5'- TCTGTTCCTAAAGCTACCGACCCG -3'
Sequencing Primer
(F):5'- ACACATGAAGCTGTGACTTTTTGG -3'
(R):5'- CCACTCTGGGAAAACCTTGTTAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation