Incidental Mutation 'R1208:Aadacl2fm3'
| ID |
164817 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl2fm3
|
| Ensembl Gene |
ENSMUSG00000095522 |
| Gene Name |
AADACL2 family member 3 |
| Synonyms |
Gm8298 |
| MMRRC Submission |
039277-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1208 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59768472-59784734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59772715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 73
(P73L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179799]
|
| AlphaFold |
J3QPI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179799
AA Change: P73L
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000137307
Gene: ENSMUSG00000095522
AA Change: P73L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:COesterase
|
91 |
217 |
9.6e-7 |
PFAM |
|
Pfam:Abhydrolase_3
|
107 |
279 |
1.1e-36 |
PFAM |
|
Pfam:Abhydrolase_3
|
284 |
375 |
1.2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194941
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
C |
A |
7: 29,260,708 (GRCm39) |
|
noncoding transcript |
Het |
| Asb14 |
T |
C |
14: 26,622,375 (GRCm39) |
|
probably benign |
Het |
| Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
| Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,755,592 (GRCm39) |
V214A |
probably benign |
Het |
| Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
| Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
| Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
| Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
| Mta2 |
G |
A |
19: 8,928,381 (GRCm39) |
R560H |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
| Niban3 |
A |
T |
8: 72,053,119 (GRCm39) |
T125S |
probably damaging |
Het |
| Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
| Pdpk1 |
C |
A |
17: 24,312,583 (GRCm39) |
|
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,098,199 (GRCm39) |
|
probably benign |
Het |
| Slc25a25 |
T |
C |
2: 32,307,437 (GRCm39) |
E309G |
probably benign |
Het |
| Slc25a36 |
T |
C |
9: 96,967,188 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,984,783 (GRCm39) |
N120K |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Homo |
| Vmn1r40 |
A |
G |
6: 89,691,326 (GRCm39) |
I48V |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
| Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Aadacl2fm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01712:Aadacl2fm3
|
APN |
3 |
59,776,321 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02064:Aadacl2fm3
|
APN |
3 |
59,784,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02317:Aadacl2fm3
|
APN |
3 |
59,784,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0270:Aadacl2fm3
|
UTSW |
3 |
59,784,440 (GRCm39) |
missense |
probably benign |
|
|
R0580:Aadacl2fm3
|
UTSW |
3 |
59,784,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1124:Aadacl2fm3
|
UTSW |
3 |
59,772,639 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1208:Aadacl2fm3
|
UTSW |
3 |
59,772,715 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1222:Aadacl2fm3
|
UTSW |
3 |
59,784,682 (GRCm39) |
nonsense |
probably null |
|
|
R1436:Aadacl2fm3
|
UTSW |
3 |
59,772,760 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1529:Aadacl2fm3
|
UTSW |
3 |
59,768,533 (GRCm39) |
missense |
probably benign |
|
|
R1806:Aadacl2fm3
|
UTSW |
3 |
59,784,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Aadacl2fm3
|
UTSW |
3 |
59,772,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Aadacl2fm3
|
UTSW |
3 |
59,784,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Aadacl2fm3
|
UTSW |
3 |
59,784,214 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4910:Aadacl2fm3
|
UTSW |
3 |
59,776,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5571:Aadacl2fm3
|
UTSW |
3 |
59,784,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6131:Aadacl2fm3
|
UTSW |
3 |
59,776,324 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6447:Aadacl2fm3
|
UTSW |
3 |
59,772,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6481:Aadacl2fm3
|
UTSW |
3 |
59,768,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6795:Aadacl2fm3
|
UTSW |
3 |
59,776,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Aadacl2fm3
|
UTSW |
3 |
59,768,500 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7334:Aadacl2fm3
|
UTSW |
3 |
59,776,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7602:Aadacl2fm3
|
UTSW |
3 |
59,784,697 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7660:Aadacl2fm3
|
UTSW |
3 |
59,772,689 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7705:Aadacl2fm3
|
UTSW |
3 |
59,784,168 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7708:Aadacl2fm3
|
UTSW |
3 |
59,772,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7981:Aadacl2fm3
|
UTSW |
3 |
59,784,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8167:Aadacl2fm3
|
UTSW |
3 |
59,784,632 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8941:Aadacl2fm3
|
UTSW |
3 |
59,784,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9547:Aadacl2fm3
|
UTSW |
3 |
59,772,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9557:Aadacl2fm3
|
UTSW |
3 |
59,784,654 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9675:Aadacl2fm3
|
UTSW |
3 |
59,784,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0011:Aadacl2fm3
|
UTSW |
3 |
59,768,598 (GRCm39) |
missense |
probably benign |
|
|
X0022:Aadacl2fm3
|
UTSW |
3 |
59,784,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- tgccccacGCACTACCTACTAATC -3'
(R):5'- CTGCGGGAGAAAGTATGTCAAGGTC -3'
Sequencing Primer
(F):5'- ccacGCACTACCTACTAATCTTTTC -3'
(R):5'- GAAAGTATGTCAAGGTCAGTGTTCC -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation