Incidental Mutation 'R5981:Aadacl2fm2'
| ID |
481409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl2fm2
|
| Ensembl Gene |
ENSMUSG00000090527 |
| Gene Name |
AADACL2 family member 2 |
| Synonyms |
Gm5538 |
| MMRRC Submission |
043250-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59637211-59659754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59659299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 251
(Y251H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168156]
|
| AlphaFold |
W4VSP6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168156
AA Change: Y251H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: Y251H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF2424
|
70 |
214 |
9.3e-9 |
PFAM |
|
Pfam:COesterase
|
91 |
236 |
5.4e-10 |
PFAM |
|
Pfam:Abhydrolase_3
|
107 |
287 |
6.6e-36 |
PFAM |
|
Pfam:Abhydrolase_3
|
271 |
375 |
1.4e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccr3 |
G |
A |
9: 123,828,820 (GRCm39) |
G52S |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,993,661 (GRCm39) |
L1992P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,515,293 (GRCm39) |
K23E |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,585,788 (GRCm39) |
R1224C |
probably damaging |
Het |
| Cox7c |
A |
T |
13: 86,194,780 (GRCm39) |
S5R |
possibly damaging |
Het |
| Eps8 |
A |
G |
6: 137,459,208 (GRCm39) |
V765A |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,863,307 (GRCm39) |
D104G |
possibly damaging |
Het |
| Gm11032 |
T |
C |
11: 4,571,697 (GRCm39) |
V34A |
probably benign |
Het |
| Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,313,664 (GRCm39) |
T1968I |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,905,229 (GRCm39) |
D444G |
probably damaging |
Het |
| Ms4a1 |
T |
C |
19: 11,229,180 (GRCm39) |
E242G |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,255,405 (GRCm39) |
D216G |
probably damaging |
Het |
| Panx3 |
A |
G |
9: 37,580,177 (GRCm39) |
S59P |
possibly damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,907 (GRCm39) |
D466G |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,597,605 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
C |
13: 35,070,693 (GRCm39) |
S427P |
probably benign |
Het |
| Rbm44 |
T |
C |
1: 91,080,411 (GRCm39) |
S166P |
possibly damaging |
Het |
| Recql |
A |
G |
6: 142,318,604 (GRCm39) |
L213P |
probably damaging |
Het |
| Rwdd1 |
A |
G |
10: 33,885,081 (GRCm39) |
Y60H |
probably damaging |
Het |
| Sult1b1 |
A |
C |
5: 87,682,816 (GRCm39) |
I43R |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,947,849 (GRCm39) |
V597E |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,490,394 (GRCm39) |
I177F |
probably damaging |
Het |
| Zfp410 |
A |
G |
12: 84,378,414 (GRCm39) |
E193G |
probably benign |
Het |
|
| Other mutations in Aadacl2fm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00426:Aadacl2fm2
|
APN |
3 |
59,659,542 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL00934:Aadacl2fm2
|
APN |
3 |
59,659,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02335:Aadacl2fm2
|
APN |
3 |
59,651,026 (GRCm39) |
missense |
probably benign |
|
|
IGL02709:Aadacl2fm2
|
APN |
3 |
59,654,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03114:Aadacl2fm2
|
APN |
3 |
59,651,144 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0107:Aadacl2fm2
|
UTSW |
3 |
59,659,737 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0591:Aadacl2fm2
|
UTSW |
3 |
59,659,550 (GRCm39) |
nonsense |
probably null |
|
|
R0850:Aadacl2fm2
|
UTSW |
3 |
59,659,669 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1127:Aadacl2fm2
|
UTSW |
3 |
59,659,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1916:Aadacl2fm2
|
UTSW |
3 |
59,652,924 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R3008:Aadacl2fm2
|
UTSW |
3 |
59,652,930 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3921:Aadacl2fm2
|
UTSW |
3 |
59,659,498 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4368:Aadacl2fm2
|
UTSW |
3 |
59,659,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Aadacl2fm2
|
UTSW |
3 |
59,659,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5268:Aadacl2fm2
|
UTSW |
3 |
59,659,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5511:Aadacl2fm2
|
UTSW |
3 |
59,654,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5564:Aadacl2fm2
|
UTSW |
3 |
59,659,513 (GRCm39) |
missense |
probably benign |
|
|
R5812:Aadacl2fm2
|
UTSW |
3 |
59,654,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6049:Aadacl2fm2
|
UTSW |
3 |
59,659,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6195:Aadacl2fm2
|
UTSW |
3 |
59,659,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6353:Aadacl2fm2
|
UTSW |
3 |
59,659,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6449:Aadacl2fm2
|
UTSW |
3 |
59,652,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6845:Aadacl2fm2
|
UTSW |
3 |
59,659,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Aadacl2fm2
|
UTSW |
3 |
59,651,037 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7585:Aadacl2fm2
|
UTSW |
3 |
59,651,143 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7827:Aadacl2fm2
|
UTSW |
3 |
59,651,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7844:Aadacl2fm2
|
UTSW |
3 |
59,637,318 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8308:Aadacl2fm2
|
UTSW |
3 |
59,659,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8830:Aadacl2fm2
|
UTSW |
3 |
59,654,744 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9447:Aadacl2fm2
|
UTSW |
3 |
59,651,051 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9557:Aadacl2fm2
|
UTSW |
3 |
59,659,160 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Aadacl2fm2
|
UTSW |
3 |
59,654,615 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGAATGACACATACTTACATCTC -3'
(R):5'- ATAGCCTGCTATCCAAAAGTGC -3'
Sequencing Primer
(F):5'- GCATCCCTTTTGTGTAAAAATCATTG -3'
(R):5'- GCTGGATAGAAAACATTTAGCTTTCC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation