Incidental Mutation 'IGL00799:Aadacl4fm2'
| ID |
10992 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aadacl4fm2
|
| Ensembl Gene |
ENSMUSG00000078506 |
| Gene Name |
AADACL4 family member 2 |
| Synonyms |
Gm13124 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
IGL00799
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144281570-144291704 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144281843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 316
(H316Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105748]
|
| AlphaFold |
A2A752 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105748
AA Change: H316Q
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101374
Gene: ENSMUSG00000078506
AA Change: H316Q
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
24 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
113 |
292 |
1.7e-8 |
PFAM |
|
Pfam:Abhydrolase_3
|
114 |
284 |
2.5e-33 |
PFAM |
|
Pfam:Abhydrolase_3
|
306 |
380 |
2.6e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Boc |
G |
T |
16: 44,313,318 (GRCm39) |
D515E |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,934,678 (GRCm39) |
|
probably null |
Het |
| Ctcf |
A |
G |
8: 106,403,968 (GRCm39) |
D608G |
unknown |
Het |
| Dab2ip |
A |
G |
2: 35,597,787 (GRCm39) |
I99V |
probably benign |
Het |
| Ecpas |
T |
A |
4: 58,828,047 (GRCm39) |
I981F |
possibly damaging |
Het |
| Ehd2 |
C |
T |
7: 15,697,392 (GRCm39) |
A139T |
possibly damaging |
Het |
| Fam151b |
C |
A |
13: 92,614,361 (GRCm39) |
K42N |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,589,872 (GRCm39) |
D1002E |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,028,222 (GRCm39) |
Y290C |
probably damaging |
Het |
| Hoxd10 |
A |
G |
2: 74,522,786 (GRCm39) |
S155G |
probably benign |
Het |
| Hp |
A |
G |
8: 110,302,250 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
C |
6: 115,854,497 (GRCm39) |
S112P |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,794,452 (GRCm39) |
|
probably benign |
Het |
| Mtbp |
T |
A |
15: 55,480,904 (GRCm39) |
L290* |
probably null |
Het |
| Nr5a2 |
T |
A |
1: 136,818,536 (GRCm39) |
D330V |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,102,700 (GRCm39) |
L157Q |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,839,521 (GRCm39) |
D116E |
possibly damaging |
Het |
| Slc23a3 |
A |
T |
1: 75,109,925 (GRCm39) |
I114N |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,347,878 (GRCm38) |
I1140L |
probably benign |
Het |
|
| Other mutations in Aadacl4fm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02876:Aadacl4fm2
|
APN |
4 |
144,282,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4514001:Aadacl4fm2
|
UTSW |
4 |
144,282,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0089:Aadacl4fm2
|
UTSW |
4 |
144,282,303 (GRCm39) |
missense |
probably benign |
|
|
R0325:Aadacl4fm2
|
UTSW |
4 |
144,282,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0920:Aadacl4fm2
|
UTSW |
4 |
144,287,696 (GRCm39) |
splice site |
probably benign |
|
|
R1301:Aadacl4fm2
|
UTSW |
4 |
144,291,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1711:Aadacl4fm2
|
UTSW |
4 |
144,281,976 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4328:Aadacl4fm2
|
UTSW |
4 |
144,282,164 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4382:Aadacl4fm2
|
UTSW |
4 |
144,281,596 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4655:Aadacl4fm2
|
UTSW |
4 |
144,281,645 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5194:Aadacl4fm2
|
UTSW |
4 |
144,281,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6301:Aadacl4fm2
|
UTSW |
4 |
144,285,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6508:Aadacl4fm2
|
UTSW |
4 |
144,291,590 (GRCm39) |
nonsense |
probably null |
|
|
R7206:Aadacl4fm2
|
UTSW |
4 |
144,285,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Aadacl4fm2
|
UTSW |
4 |
144,291,626 (GRCm39) |
missense |
probably benign |
|
|
R7520:Aadacl4fm2
|
UTSW |
4 |
144,281,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Aadacl4fm2
|
UTSW |
4 |
144,291,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8709:Aadacl4fm2
|
UTSW |
4 |
144,281,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Aadacl4fm2
|
UTSW |
4 |
144,282,000 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9529:Aadacl4fm2
|
UTSW |
4 |
144,282,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation