Incidental Mutation 'R1124:Aadacl2fm3'
| ID |
95937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl2fm3
|
| Ensembl Gene |
ENSMUSG00000095522 |
| Gene Name |
AADACL2 family member 3 |
| Synonyms |
Gm8298 |
| MMRRC Submission |
039197-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R1124 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59768472-59784734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59772639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 48
(T48A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179799]
|
| AlphaFold |
J3QPI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179799
AA Change: T48A
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137307
Gene: ENSMUSG00000095522
AA Change: T48A
| 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: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
T |
14: 32,384,039 (GRCm39) |
R642Q |
possibly damaging |
Het |
| Aadacl4fm1 |
A |
G |
4: 144,255,194 (GRCm39) |
T205A |
probably benign |
Het |
| Aadacl4fm4 |
T |
C |
4: 144,396,845 (GRCm39) |
S296G |
probably benign |
Het |
| Anxa10 |
C |
T |
8: 62,514,038 (GRCm39) |
|
probably null |
Het |
| Bcl11a |
A |
T |
11: 24,113,928 (GRCm39) |
M424L |
probably damaging |
Het |
| Bhlhe41 |
A |
G |
6: 145,809,456 (GRCm39) |
S119P |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,071,888 (GRCm39) |
D1033G |
probably benign |
Het |
| Ccdc174 |
T |
C |
6: 91,876,561 (GRCm39) |
V466A |
probably benign |
Het |
| Dnaaf11 |
T |
A |
15: 66,310,264 (GRCm39) |
T335S |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,306,940 (GRCm39) |
Y9H |
probably damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,105,236 (GRCm39) |
I310F |
possibly damaging |
Het |
| Grm3 |
C |
T |
5: 9,620,297 (GRCm39) |
V316I |
probably benign |
Het |
| Gys2 |
A |
G |
6: 142,391,739 (GRCm39) |
Y508H |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,765,063 (GRCm39) |
D2921V |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 140,294,547 (GRCm39) |
K71R |
probably damaging |
Het |
| Myh7 |
A |
T |
14: 55,211,327 (GRCm39) |
V1614E |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or8k23 |
T |
A |
2: 86,186,239 (GRCm39) |
K162N |
probably damaging |
Het |
| Pirb |
T |
A |
7: 3,722,731 (GRCm39) |
N87I |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,257,115 (GRCm39) |
|
probably null |
Het |
| Rasa4 |
A |
G |
5: 136,134,510 (GRCm39) |
N627S |
probably benign |
Het |
| Spata31d1b |
A |
C |
13: 59,864,468 (GRCm39) |
M539L |
probably benign |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,525 (GRCm39) |
|
probably null |
Het |
| Tnfrsf1b |
A |
T |
4: 144,950,926 (GRCm39) |
L229Q |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,714,758 (GRCm39) |
V443E |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,485,733 (GRCm39) |
V2948L |
probably damaging |
Het |
| Vmn1r204 |
A |
T |
13: 22,741,209 (GRCm39) |
Y280F |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmn2r93 |
G |
T |
17: 18,518,710 (GRCm39) |
K56N |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,885,918 (GRCm39) |
I880V |
probably benign |
Het |
| Zfp106 |
C |
T |
2: 120,365,195 (GRCm39) |
G404E |
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 |
|
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'- GGCTTTGCTATATACACTACCgtggg -3'
(R):5'- CTTTTGGGTAAATACAGACGAACAGGGA -3'
Sequencing Primer
(F):5'- cttggaacaaaaggctcagac -3'
(R):5'- GATGTCACTGAAGTCTGTGTCAATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation