Incidental Mutation 'R0580:Aadacl2fm3'
ID |
56382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aadacl2fm3
|
Ensembl Gene |
ENSMUSG00000095522 |
Gene Name |
AADACL2 family member 3 |
Synonyms |
Gm8298 |
MMRRC Submission |
038770-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R0580 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
59768472-59784734 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59784470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 314
(D314E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179799]
|
AlphaFold |
J3QPI0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179799
AA Change: D314E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137307 Gene: ENSMUSG00000095522 AA Change: D314E
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
C |
T |
17: 46,616,882 (GRCm39) |
|
probably null |
Het |
Adgrg5 |
T |
C |
8: 95,663,972 (GRCm39) |
|
probably null |
Het |
Akap12 |
A |
T |
10: 4,304,741 (GRCm39) |
D517V |
possibly damaging |
Het |
Arhgap23 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
11: 97,337,362 (GRCm39) |
|
probably null |
Het |
Bpi |
A |
T |
2: 158,100,215 (GRCm39) |
M1L |
probably damaging |
Het |
Carm1 |
C |
T |
9: 21,494,880 (GRCm39) |
P339S |
probably damaging |
Het |
Chchd3 |
A |
C |
6: 32,870,325 (GRCm39) |
|
probably null |
Het |
Chd9 |
T |
C |
8: 91,721,191 (GRCm39) |
V520A |
possibly damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Col10a1 |
A |
G |
10: 34,270,948 (GRCm39) |
R307G |
probably benign |
Het |
Cpeb3 |
T |
C |
19: 37,151,435 (GRCm39) |
T314A |
probably benign |
Het |
Csmd1 |
A |
T |
8: 15,960,528 (GRCm39) |
Y3296N |
probably damaging |
Het |
Dtx2 |
A |
T |
5: 136,061,180 (GRCm39) |
T521S |
probably damaging |
Het |
Ext2 |
A |
T |
2: 93,626,070 (GRCm39) |
V330E |
probably benign |
Het |
Extl3 |
A |
G |
14: 65,313,178 (GRCm39) |
L668P |
probably damaging |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Grm8 |
A |
G |
6: 27,761,370 (GRCm39) |
|
probably benign |
Het |
Herc2 |
T |
A |
7: 55,788,539 (GRCm39) |
V1763D |
probably damaging |
Het |
Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
Iqce |
A |
G |
5: 140,651,156 (GRCm39) |
F768L |
possibly damaging |
Het |
Kntc1 |
G |
A |
5: 123,941,732 (GRCm39) |
V1809I |
probably benign |
Het |
Lyzl1 |
A |
C |
18: 4,181,134 (GRCm39) |
T58P |
probably damaging |
Het |
Mlxipl |
A |
G |
5: 135,152,829 (GRCm39) |
T287A |
probably benign |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Net1 |
A |
G |
13: 3,936,612 (GRCm39) |
Y264H |
probably damaging |
Het |
Nnmt |
T |
C |
9: 48,503,600 (GRCm39) |
D142G |
probably damaging |
Het |
Nod2 |
T |
A |
8: 89,391,034 (GRCm39) |
I432N |
probably damaging |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or2y1g |
T |
A |
11: 49,171,449 (GRCm39) |
I158N |
probably damaging |
Het |
Or6b6 |
A |
G |
7: 106,571,447 (GRCm39) |
Y35H |
probably damaging |
Het |
Pign |
A |
C |
1: 105,519,419 (GRCm39) |
I501S |
probably benign |
Het |
Scgb2b19 |
A |
T |
7: 32,977,995 (GRCm39) |
S101T |
probably benign |
Het |
Slc7a5 |
A |
T |
8: 122,611,855 (GRCm39) |
M391K |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,897,587 (GRCm39) |
R1217G |
probably damaging |
Het |
Srgap2 |
A |
G |
1: 131,277,239 (GRCm39) |
V336A |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
Syt10 |
A |
T |
15: 89,711,379 (GRCm39) |
D51E |
probably benign |
Het |
Vmn2r96 |
T |
C |
17: 18,802,900 (GRCm39) |
V270A |
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 |
|
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 |
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'- CCTGCACTACAGGCACTTGATACC -3'
(R):5'- GTCATGGATGATGGGAACTCCAACC -3'
Sequencing Primer
(F):5'- TAAGCATGGTCCCTTTCTGACAAG -3'
(R):5'- ATGGGAACTCCAACCTTTCTGAG -3'
|
Posted On |
2013-07-11 |