Incidental Mutation 'R9738:Abhd12b'
| ID |
731732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abhd12b
|
| Ensembl Gene |
ENSMUSG00000090121 |
| Gene Name |
abhydrolase domain containing 12B |
| Synonyms |
LOC328121 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R9738 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
70200916-70230661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70216039 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 199
(T199A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134568
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169156]
[ENSMUST00000182512]
[ENSMUST00000182782]
[ENSMUST00000182927]
|
| AlphaFold |
G3UZN6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169156
AA Change: T199A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000134568
Gene: ENSMUSG00000090121
AA Change: T199A
| 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 benign
Transcript: ENSMUST00000182927
AA Change: T122A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138681
Gene: ENSMUSG00000090121
AA Change: T122A
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
A |
G |
3: 126,737,121 (GRCm39) |
F2921S |
unknown |
Het |
| Atg12 |
A |
G |
18: 46,874,505 (GRCm39) |
S37P |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,863,329 (GRCm39) |
D413G |
probably damaging |
Het |
| Cdk8 |
A |
G |
5: 146,236,539 (GRCm39) |
N318S |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,590,665 (GRCm39) |
L68* |
probably null |
Het |
| Cntnap2 |
CCACATAAACAACACACA |
CCACA |
6: 45,992,373 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
A |
C |
6: 113,267,401 (GRCm39) |
N194T |
probably damaging |
Het |
| Cpxm1 |
A |
G |
2: 130,235,302 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
C |
8: 70,840,205 (GRCm39) |
N556S |
probably damaging |
Het |
| Gm12888 |
A |
T |
4: 121,175,520 (GRCm39) |
C87* |
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,019,583 (GRCm39) |
E2118G |
probably damaging |
Het |
| Hrh4 |
A |
G |
18: 13,155,270 (GRCm39) |
N270D |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,671,672 (GRCm39) |
Q77* |
probably null |
Het |
| Lars1 |
A |
G |
18: 42,350,649 (GRCm39) |
W887R |
probably damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,527 (GRCm39) |
Y706H |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,222,524 (GRCm39) |
F170I |
probably damaging |
Het |
| Msrb1 |
T |
C |
17: 24,958,535 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,189,759 (GRCm39) |
I1096V |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,455,963 (GRCm39) |
Y116C |
probably damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,148,238 (GRCm39) |
H41R |
possibly damaging |
Het |
| Or5an11 |
A |
G |
19: 12,245,869 (GRCm39) |
T92A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,934,526 (GRCm39) |
T603A |
possibly damaging |
Het |
| Sugp1 |
T |
A |
8: 70,505,256 (GRCm39) |
H74Q |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,986,380 (GRCm39) |
T243A |
probably benign |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,390 (GRCm39) |
E358G |
possibly damaging |
Het |
| Unc5d |
T |
A |
8: 29,214,332 (GRCm39) |
H410L |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,819,672 (GRCm39) |
V378A |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,022,604 (GRCm39) |
S581P |
probably damaging |
Het |
| Zfp947 |
A |
G |
17: 22,365,341 (GRCm39) |
V111A |
probably benign |
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 |
|
R1427:Abhd12b
|
UTSW |
12 |
70,229,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
Z1176:Abhd12b
|
UTSW |
12 |
70,210,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCGGCTTCCATGTATTGTC -3'
(R):5'- TTACTGTTTCTGGAGTGAAAGACC -3'
Sequencing Primer
(F):5'- CCATGTATTGTCTGTGGACTATAGAG -3'
(R):5'- CAAAGAATGGAAGTGTCCCTGTTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation