Incidental Mutation 'R6795:Aadacl2fm3'
ID |
532960 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aadacl2fm3
|
Ensembl Gene |
ENSMUSG00000095522 |
Gene Name |
AADACL2 family member 3 |
Synonyms |
Gm8298 |
MMRRC Submission |
044908-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R6795 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
59768472-59784734 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59776357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 176
(Y176F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179799]
|
AlphaFold |
J3QPI0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179799
AA Change: Y176F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137307 Gene: ENSMUSG00000095522 AA Change: Y176F
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 |
|
Meta Mutation Damage Score |
0.2604 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
C |
A |
4: 73,869,065 (GRCm39) |
|
probably benign |
Het |
A2m |
T |
A |
6: 121,625,281 (GRCm39) |
|
probably null |
Het |
Agps |
A |
G |
2: 75,724,402 (GRCm39) |
D472G |
probably damaging |
Het |
Amfr |
A |
G |
8: 94,726,961 (GRCm39) |
V158A |
probably benign |
Het |
Birc2 |
A |
G |
9: 7,833,873 (GRCm39) |
Y203H |
possibly damaging |
Het |
Calr4 |
A |
G |
4: 109,101,985 (GRCm39) |
N147D |
probably damaging |
Het |
Cd8b1 |
T |
A |
6: 71,303,324 (GRCm39) |
L133Q |
probably damaging |
Het |
Cenpn |
T |
A |
8: 117,652,887 (GRCm39) |
S19R |
probably benign |
Het |
Ces2g |
A |
G |
8: 105,694,449 (GRCm39) |
N494S |
probably damaging |
Het |
Ces3a |
G |
A |
8: 105,777,228 (GRCm39) |
G184R |
possibly damaging |
Het |
Dlgap1 |
C |
A |
17: 71,125,069 (GRCm39) |
A614E |
possibly damaging |
Het |
Dpy19l1 |
C |
A |
9: 24,414,158 (GRCm39) |
R90L |
possibly damaging |
Het |
Ephb2 |
A |
C |
4: 136,400,646 (GRCm39) |
L544R |
possibly damaging |
Het |
Fanca |
T |
A |
8: 124,045,232 (GRCm39) |
T21S |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,811,303 (GRCm39) |
M2541L |
probably benign |
Het |
Galnt2 |
T |
C |
8: 125,070,175 (GRCm39) |
F530S |
probably damaging |
Het |
Gm19410 |
G |
A |
8: 36,262,676 (GRCm39) |
C871Y |
probably damaging |
Het |
Gmds |
C |
T |
13: 32,418,335 (GRCm39) |
|
probably null |
Het |
Hectd1 |
A |
G |
12: 51,841,270 (GRCm39) |
V620A |
possibly damaging |
Het |
Myo18b |
T |
C |
5: 112,994,230 (GRCm39) |
T908A |
probably damaging |
Het |
Or5d18 |
C |
T |
2: 87,864,668 (GRCm39) |
V272I |
probably benign |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
Pcf11 |
A |
C |
7: 92,306,786 (GRCm39) |
N1127K |
probably benign |
Het |
Plec |
T |
C |
15: 76,064,338 (GRCm39) |
K1979E |
probably damaging |
Het |
Prpf38b |
T |
C |
3: 108,811,980 (GRCm39) |
|
probably benign |
Het |
Sema5b |
T |
A |
16: 35,478,941 (GRCm39) |
C588* |
probably null |
Het |
Skint5 |
C |
T |
4: 113,524,420 (GRCm39) |
E854K |
unknown |
Het |
Slc25a42 |
A |
G |
8: 70,641,040 (GRCm39) |
Y187H |
probably damaging |
Het |
Slc30a5 |
A |
T |
13: 100,953,577 (GRCm39) |
D182E |
probably damaging |
Het |
Synrg |
A |
G |
11: 83,910,740 (GRCm39) |
I1047V |
probably damaging |
Het |
Tbc1d31 |
A |
G |
15: 57,815,102 (GRCm39) |
D593G |
probably damaging |
Het |
Thnsl1 |
C |
T |
2: 21,218,303 (GRCm39) |
Q165* |
probably null |
Het |
Ttc6 |
T |
C |
12: 57,751,199 (GRCm39) |
F1364L |
probably damaging |
Het |
Ttf2 |
G |
A |
3: 100,866,578 (GRCm39) |
A518V |
probably damaging |
Het |
Vmn1r6 |
A |
G |
6: 56,979,422 (GRCm39) |
Y28C |
possibly damaging |
Het |
Zzef1 |
A |
G |
11: 72,741,485 (GRCm39) |
E709G |
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 |
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 |
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'- TGGAATTAAACGTTCAAAGTGGGC -3'
(R):5'- CACACAACATTGGACATTGGATTC -3'
Sequencing Primer
(F):5'- CCATAATTTCTCCACTGGC -3'
(R):5'- GGATTCAATGCTCAGTAAACATGCAC -3'
|
Posted On |
2018-08-29 |