Incidental Mutation 'IGL00655:Acnat2'
| ID |
8549 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acnat2
|
| Ensembl Gene |
ENSMUSG00000060317 |
| Gene Name |
acyl-coenzyme A amino acid N-acyltransferase 2 |
| Synonyms |
C730036D15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL00655
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
49379840-49408151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 49383250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 101
(P101L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081541]
[ENSMUST00000107698]
[ENSMUST00000125123]
|
| AlphaFold |
Q8BGG9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081541
AA Change: P101L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080256
Gene: ENSMUSG00000060317
AA Change: P101L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bile_Hydr_Trans
|
15 |
144 |
6e-44 |
PFAM |
|
low complexity region
|
149 |
173 |
N/A |
INTRINSIC |
|
Pfam:BAAT_C
|
206 |
415 |
2e-79 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107698
AA Change: P101L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103326
Gene: ENSMUSG00000060317
AA Change: P101L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bile_Hydr_Trans
|
14 |
145 |
9.8e-42 |
PFAM |
|
Pfam:BAAT_C
|
188 |
397 |
6.6e-79 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125123
AA Change: P101L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119135
Gene: ENSMUSG00000060317
AA Change: P101L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bile_Hydr_Trans
|
14 |
145 |
2.4e-42 |
PFAM |
|
low complexity region
|
149 |
173 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139564
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,354,146 (GRCm39) |
K1756E |
probably damaging |
Het |
| Anp32a |
T |
A |
9: 62,278,994 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,937,216 (GRCm39) |
|
probably null |
Het |
| Fam114a2 |
T |
A |
11: 57,378,413 (GRCm39) |
I451F |
probably damaging |
Het |
| Fbxw22 |
T |
C |
9: 109,211,312 (GRCm39) |
|
probably benign |
Het |
| Fndc3b |
C |
T |
3: 27,592,161 (GRCm39) |
G246R |
probably benign |
Het |
| Gcc1 |
C |
T |
6: 28,421,197 (GRCm39) |
R40H |
possibly damaging |
Het |
| Lig4 |
A |
T |
8: 10,023,305 (GRCm39) |
N158K |
probably benign |
Het |
| Nxph2 |
A |
G |
2: 23,290,153 (GRCm39) |
I168M |
possibly damaging |
Het |
| Ropn1 |
G |
T |
16: 34,498,790 (GRCm39) |
G193C |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 154,760,192 (GRCm39) |
I48F |
probably benign |
Het |
| Tuft1 |
T |
A |
3: 94,530,091 (GRCm39) |
E184D |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,247,515 (GRCm39) |
T1414A |
probably damaging |
Het |
|
| Other mutations in Acnat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01321:Acnat2
|
APN |
4 |
49,380,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01891:Acnat2
|
APN |
4 |
49,383,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01993:Acnat2
|
APN |
4 |
49,380,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02517:Acnat2
|
APN |
4 |
49,380,647 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02517:Acnat2
|
APN |
4 |
49,380,639 (GRCm39) |
nonsense |
probably null |
|
|
IGL03249:Acnat2
|
APN |
4 |
49,381,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4494001:Acnat2
|
UTSW |
4 |
49,383,133 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0050:Acnat2
|
UTSW |
4 |
49,380,586 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0462:Acnat2
|
UTSW |
4 |
49,383,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0482:Acnat2
|
UTSW |
4 |
49,383,534 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0590:Acnat2
|
UTSW |
4 |
49,383,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0616:Acnat2
|
UTSW |
4 |
49,380,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1099:Acnat2
|
UTSW |
4 |
49,380,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1678:Acnat2
|
UTSW |
4 |
49,380,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1710:Acnat2
|
UTSW |
4 |
49,380,587 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2190:Acnat2
|
UTSW |
4 |
49,383,551 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R4863:Acnat2
|
UTSW |
4 |
49,380,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5031:Acnat2
|
UTSW |
4 |
49,380,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5194:Acnat2
|
UTSW |
4 |
49,380,452 (GRCm39) |
missense |
probably benign |
|
|
R5936:Acnat2
|
UTSW |
4 |
49,383,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6451:Acnat2
|
UTSW |
4 |
49,380,262 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6526:Acnat2
|
UTSW |
4 |
49,383,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6759:Acnat2
|
UTSW |
4 |
49,380,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7180:Acnat2
|
UTSW |
4 |
49,381,803 (GRCm39) |
nonsense |
probably null |
|
|
R7356:Acnat2
|
UTSW |
4 |
49,383,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Acnat2
|
UTSW |
4 |
49,383,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Acnat2
|
UTSW |
4 |
49,380,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation