Incidental Mutation 'R6447:Aadacl2fm3'
| ID |
519221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl2fm3
|
| Ensembl Gene |
ENSMUSG00000095522 |
| Gene Name |
AADACL2 family member 3 |
| Synonyms |
Gm8298 |
| MMRRC Submission |
044389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6447 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59768472-59784734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59772819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 108
(I108V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000179799]
|
| AlphaFold |
J3QPI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179799
AA Change: I108V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137307
Gene: ENSMUSG00000095522
AA Change: I108V
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Axl |
C |
A |
7: 25,469,708 (GRCm39) |
R476I |
probably damaging |
Het |
| Casr |
A |
G |
16: 36,315,907 (GRCm39) |
L721P |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,836,409 (GRCm39) |
H925L |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,960,527 (GRCm39) |
Y3296C |
probably damaging |
Het |
| Dnah3 |
G |
A |
7: 119,522,277 (GRCm39) |
T3972M |
probably benign |
Het |
| Ect2 |
A |
G |
3: 27,169,633 (GRCm39) |
F740S |
probably damaging |
Het |
| Eif1ad10 |
T |
C |
12: 88,216,494 (GRCm39) |
D126G |
unknown |
Het |
| Exoc1 |
T |
A |
5: 76,691,364 (GRCm39) |
D222E |
probably damaging |
Het |
| Hdac2 |
T |
C |
10: 36,869,812 (GRCm39) |
V258A |
possibly damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,952,476 (GRCm39) |
S487P |
probably benign |
Het |
| Lyplal1 |
A |
T |
1: 185,821,639 (GRCm39) |
|
probably null |
Het |
| Nwd2 |
T |
A |
5: 63,964,898 (GRCm39) |
I1494N |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,269 (GRCm39) |
E579G |
possibly damaging |
Het |
| Samd8 |
T |
C |
14: 21,842,624 (GRCm39) |
|
probably null |
Het |
| Sccpdh |
A |
G |
1: 179,506,453 (GRCm39) |
*131W |
probably null |
Het |
| Smarcal1 |
C |
T |
1: 72,625,033 (GRCm39) |
S60L |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,460,049 (GRCm39) |
V264E |
possibly damaging |
Het |
| T |
T |
C |
17: 8,660,463 (GRCm39) |
I217T |
possibly damaging |
Het |
| Tbc1d1 |
C |
T |
5: 64,490,836 (GRCm39) |
L896F |
probably damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmprss11f |
T |
C |
5: 86,676,086 (GRCm39) |
Y365C |
probably damaging |
Het |
| Trdv4 |
A |
G |
14: 54,312,931 (GRCm39) |
T102A |
probably damaging |
Het |
| Vmn1r205 |
G |
T |
13: 22,776,912 (GRCm39) |
N63K |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,572,272 (GRCm39) |
V963A |
probably benign |
Het |
| Zswim2 |
T |
C |
2: 83,745,457 (GRCm39) |
|
probably null |
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 |
|
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'- AGGGTACATTGTTGGAAAATATGGGTC -3'
(R):5'- TCTAGTGATTATACAAAGAGGTGGG -3'
Sequencing Primer
(F):5'- CATTGTTGGAAAATATGGGTCTTATG -3'
(R):5'- TTGTCAAAACACAATCACTTAAAGAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation