Incidental Mutation 'R9675:Aadacl2fm3'
ID |
728292 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aadacl2fm3
|
Ensembl Gene |
ENSMUSG00000095522 |
Gene Name |
AADACL2 family member 3 |
Synonyms |
Gm8298 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R9675 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
59768472-59784734 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 59784538 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 337
(T337I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179799]
|
AlphaFold |
J3QPI0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179799
AA Change: T337I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137307 Gene: ENSMUSG00000095522 AA Change: T337I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
G |
T |
5: 113,339,827 (GRCm39) |
P62T |
probably damaging |
Het |
Abtb2 |
T |
C |
2: 103,538,532 (GRCm39) |
F654L |
probably benign |
Het |
Acta2 |
A |
T |
19: 34,223,612 (GRCm39) |
V161E |
|
Het |
Adamtsl1 |
A |
C |
4: 86,161,989 (GRCm39) |
Y374S |
probably damaging |
Het |
Apc |
A |
G |
18: 34,449,247 (GRCm39) |
K2048E |
probably damaging |
Het |
Arhgef4 |
C |
A |
1: 34,845,108 (GRCm39) |
D66E |
probably benign |
Het |
Arsj |
T |
A |
3: 126,231,765 (GRCm39) |
H170Q |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,563,321 (GRCm39) |
K208E |
probably benign |
Het |
Brd4 |
A |
T |
17: 32,433,786 (GRCm39) |
M459K |
unknown |
Het |
Btnl10 |
T |
A |
11: 58,814,442 (GRCm39) |
L374Q |
probably damaging |
Het |
Cadm1 |
C |
T |
9: 47,441,752 (GRCm39) |
R28W |
probably damaging |
Het |
Cts7 |
A |
T |
13: 61,504,371 (GRCm39) |
M64K |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,712,652 (GRCm39) |
L1552P |
probably damaging |
Het |
Dnaaf6rt |
G |
A |
1: 31,262,644 (GRCm39) |
V209I |
probably benign |
Het |
Dock4 |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
TGTGCCGGTGCCGGTGCCGGTGCCGGTGCCGGTGCC |
12: 40,894,379 (GRCm39) |
|
probably benign |
Het |
Dock4 |
TGCCGG |
TGCCGGAGCCGG |
12: 40,894,393 (GRCm39) |
|
probably benign |
Het |
Dusp4 |
G |
A |
8: 35,274,964 (GRCm39) |
G28S |
probably benign |
Het |
Fez2 |
A |
G |
17: 78,686,169 (GRCm39) |
C373R |
possibly damaging |
Het |
Fibin |
T |
C |
2: 110,192,495 (GRCm39) |
T216A |
probably benign |
Het |
Gad1 |
G |
A |
2: 70,416,200 (GRCm39) |
V220M |
probably damaging |
Het |
Hsd17b13 |
A |
G |
5: 104,111,709 (GRCm39) |
L278S |
probably benign |
Het |
Hyal5 |
G |
T |
6: 24,876,635 (GRCm39) |
E169D |
probably benign |
Het |
Ighv1-15 |
A |
T |
12: 114,620,981 (GRCm39) |
C115S |
probably damaging |
Het |
Msl2 |
T |
C |
9: 100,978,555 (GRCm39) |
S310P |
probably benign |
Het |
Mss51 |
A |
G |
14: 20,537,189 (GRCm39) |
M93T |
probably damaging |
Het |
Npas2 |
T |
C |
1: 39,364,446 (GRCm39) |
F263L |
probably damaging |
Het |
Ogfod2 |
T |
C |
5: 124,252,452 (GRCm39) |
V177A |
probably damaging |
Het |
Or1s2 |
T |
G |
19: 13,758,639 (GRCm39) |
V219G |
possibly damaging |
Het |
Or9a4 |
A |
G |
6: 40,548,559 (GRCm39) |
M80V |
possibly damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pkd2l1 |
G |
T |
19: 44,137,696 (GRCm39) |
Q713K |
probably benign |
Het |
Rasgrp1 |
T |
A |
2: 117,173,190 (GRCm39) |
M1L |
probably benign |
Het |
Rnf167 |
T |
A |
11: 70,541,032 (GRCm39) |
H219Q |
possibly damaging |
Het |
Spatc1 |
T |
A |
15: 76,152,520 (GRCm39) |
I50N |
probably damaging |
Het |
Tcf20 |
T |
C |
15: 82,740,986 (GRCm39) |
Y155C |
probably damaging |
Het |
Tfpt |
T |
A |
7: 3,623,981 (GRCm39) |
D142V |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,087,089 (GRCm39) |
V189A |
probably benign |
Het |
Ttbk2 |
T |
G |
2: 120,637,241 (GRCm39) |
Q141H |
probably benign |
Het |
Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably damaging |
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 |
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 |
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'- ACCTCAAGAGTCAAGACATTTGTTC -3'
(R):5'- TGACCAACTAGCTACATGTACC -3'
Sequencing Primer
(F):5'- CAAGTTTGTTAACTGGAGTGACTTCC -3'
(R):5'- GCTACATGTACCATCACAGATTTTC -3'
|
Posted On |
2022-10-06 |