Incidental Mutation 'R3921:Aadacl2fm2'
| ID |
315729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadacl2fm2
|
| Ensembl Gene |
ENSMUSG00000090527 |
| Gene Name |
AADACL2 family member 2 |
| Synonyms |
Gm5538 |
| MMRRC Submission |
040818-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R3921 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59637211-59659754 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59659498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 317
(L317Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168156]
|
| AlphaFold |
W4VSP6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168156
AA Change: L317Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128877
Gene: ENSMUSG00000090527
AA Change: L317Q
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp2 |
C |
T |
6: 140,579,461 (GRCm39) |
R11C |
probably damaging |
Het |
| Anxa8 |
T |
C |
14: 33,816,403 (GRCm39) |
F201L |
probably damaging |
Het |
| Armh4 |
A |
G |
14: 50,011,659 (GRCm39) |
F16S |
probably benign |
Het |
| Bcl7a |
A |
G |
5: 123,509,136 (GRCm39) |
N206S |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,934,014 (GRCm39) |
N2542D |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,331,488 (GRCm39) |
Y2562H |
probably damaging |
Het |
| Dnah12 |
C |
G |
14: 26,493,008 (GRCm39) |
D1256E |
probably damaging |
Het |
| Dnajb14 |
A |
T |
3: 137,610,613 (GRCm39) |
R280S |
probably damaging |
Het |
| Dop1a |
A |
T |
9: 86,402,324 (GRCm39) |
I1173F |
probably benign |
Het |
| Fam228a |
T |
C |
12: 4,781,506 (GRCm39) |
T118A |
probably benign |
Het |
| Gata2 |
TGCCATGGGCTAGGCAAGCC |
TGCC |
6: 88,182,464 (GRCm39) |
|
probably null |
Het |
| Hif3a |
T |
C |
7: 16,771,097 (GRCm39) |
D618G |
possibly damaging |
Het |
| Ighv1-43 |
C |
A |
12: 114,909,772 (GRCm39) |
G50V |
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,392,296 (GRCm39) |
T1043N |
probably benign |
Het |
| Masp2 |
T |
A |
4: 148,690,188 (GRCm39) |
D232E |
possibly damaging |
Het |
| Ms4a4a |
A |
C |
19: 11,356,172 (GRCm39) |
Q19P |
probably benign |
Het |
| Nckipsd |
A |
G |
9: 108,691,275 (GRCm39) |
E399G |
possibly damaging |
Het |
| Nnt |
T |
A |
13: 119,503,030 (GRCm39) |
T572S |
probably damaging |
Het |
| Olig3 |
A |
G |
10: 19,232,423 (GRCm39) |
D16G |
probably damaging |
Het |
| Or4a74 |
C |
T |
2: 89,439,853 (GRCm39) |
V198I |
probably benign |
Het |
| Or5p57 |
T |
A |
7: 107,665,108 (GRCm39) |
D299V |
possibly damaging |
Het |
| Polr2b |
T |
C |
5: 77,474,500 (GRCm39) |
Y446H |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,755,629 (GRCm39) |
V277A |
probably damaging |
Het |
| Rnf31 |
T |
C |
14: 55,838,599 (GRCm39) |
Y857H |
probably damaging |
Het |
| Serac1 |
T |
C |
17: 6,117,067 (GRCm39) |
D163G |
probably damaging |
Het |
| Slc22a22 |
C |
A |
15: 57,119,940 (GRCm39) |
V197F |
probably benign |
Het |
| Slc2a10 |
C |
T |
2: 165,357,521 (GRCm39) |
P394S |
probably benign |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| St7 |
A |
G |
6: 17,846,244 (GRCm39) |
N120D |
probably benign |
Het |
| Sult2a6 |
C |
T |
7: 13,988,668 (GRCm39) |
V31M |
possibly damaging |
Het |
| Taf3 |
T |
C |
2: 10,053,109 (GRCm39) |
T35A |
probably benign |
Het |
| Tmem131l |
A |
G |
3: 83,847,908 (GRCm39) |
I319T |
possibly damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Ttc23l |
T |
TTGGATG |
15: 10,537,649 (GRCm39) |
|
probably benign |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
| Vmn2r9 |
T |
G |
5: 108,996,921 (GRCm39) |
Y116S |
probably benign |
Het |
| Vstm2l |
A |
G |
2: 157,777,283 (GRCm39) |
T54A |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,851,337 (GRCm39) |
M153K |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,364,097 (GRCm39) |
P770L |
probably damaging |
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 |
|
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 |
|
R5981:Aadacl2fm2
|
UTSW |
3 |
59,659,299 (GRCm39) |
missense |
probably benign |
|
|
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'- AACATGGTCCCTTTCTTTCAAGG -3'
(R):5'- ATATGGCTCCATGTATCCCGTC -3'
Sequencing Primer
(F):5'- TGACTGAAGATACAGCATTGGTCC -3'
(R):5'- CCGTCTTCTATGTGGTCATGAGTAAC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation