Incidental Mutation 'R3948:Acnat1'
| ID |
307778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acnat1
|
| Ensembl Gene |
ENSMUSG00000070985 |
| Gene Name |
acyl-coenzyme A amino acid N-acyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
040928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R3948 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
49447105-49473912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49447477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 368
(L368P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095086]
[ENSMUST00000107697]
[ENSMUST00000135976]
|
| AlphaFold |
A2AKK5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095086
AA Change: L368P
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092702
Gene: ENSMUSG00000070985
AA Change: L368P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bile_Hydr_Trans
|
15 |
144 |
2.2e-44 |
PFAM |
|
low complexity region
|
149 |
162 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_5
|
170 |
360 |
3.6e-8 |
PFAM |
|
Pfam:FSH1
|
191 |
361 |
4.5e-7 |
PFAM |
|
Pfam:BAAT_C
|
206 |
411 |
5.5e-75 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107697
AA Change: L350P
PolyPhen 2
Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103325
Gene: ENSMUSG00000070985
AA Change: L350P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bile_Hydr_Trans
|
14 |
145 |
5.7e-42 |
PFAM |
|
Pfam:Abhydrolase_5
|
156 |
342 |
3.3e-8 |
PFAM |
|
Pfam:BAAT_C
|
188 |
393 |
1.6e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135976
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,536,990 (GRCm39) |
L121S |
possibly damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avil |
A |
G |
10: 126,850,074 (GRCm39) |
S642G |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
T |
C |
5: 52,318,922 (GRCm39) |
|
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,662,615 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,769 (GRCm39) |
I94T |
possibly damaging |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
| Kcnj2 |
A |
G |
11: 110,963,481 (GRCm39) |
D291G |
possibly damaging |
Het |
| Krtap13 |
A |
G |
16: 88,547,957 (GRCm39) |
L177P |
possibly damaging |
Het |
| Mios |
A |
G |
6: 8,215,496 (GRCm39) |
T231A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or4c122 |
A |
G |
2: 89,079,336 (GRCm39) |
F234S |
possibly damaging |
Het |
| Pramel30 |
A |
C |
4: 144,057,876 (GRCm39) |
Q161P |
probably benign |
Het |
| Ralgapa1 |
C |
A |
12: 55,745,552 (GRCm39) |
V1268F |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,414 (GRCm39) |
M551K |
possibly damaging |
Het |
| Serpinb9c |
A |
C |
13: 33,334,077 (GRCm39) |
C322G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,710,824 (GRCm39) |
|
probably null |
Het |
| Slc35e4 |
A |
T |
11: 3,862,970 (GRCm39) |
V73E |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Trim5 |
G |
A |
7: 103,915,727 (GRCm39) |
Q273* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,867,910 (GRCm39) |
T1974M |
probably damaging |
Het |
| Wdr25 |
T |
A |
12: 108,993,208 (GRCm39) |
C475S |
probably benign |
Het |
| Zfp202 |
C |
A |
9: 40,119,721 (GRCm39) |
H175N |
probably benign |
Het |
| Zfp248 |
TTAAATTCAT |
TT |
6: 118,407,155 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Acnat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02733:Acnat1
|
APN |
4 |
49,447,793 (GRCm39) |
missense |
probably benign |
|
|
IGL03241:Acnat1
|
APN |
4 |
49,447,702 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0478:Acnat1
|
UTSW |
4 |
49,450,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0568:Acnat1
|
UTSW |
4 |
49,451,003 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1299:Acnat1
|
UTSW |
4 |
49,450,925 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1538:Acnat1
|
UTSW |
4 |
49,447,835 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1750:Acnat1
|
UTSW |
4 |
49,451,042 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1847:Acnat1
|
UTSW |
4 |
49,447,716 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1913:Acnat1
|
UTSW |
4 |
49,447,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2401:Acnat1
|
UTSW |
4 |
49,451,077 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3195:Acnat1
|
UTSW |
4 |
49,447,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3196:Acnat1
|
UTSW |
4 |
49,447,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4395:Acnat1
|
UTSW |
4 |
49,447,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4598:Acnat1
|
UTSW |
4 |
49,450,781 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4774:Acnat1
|
UTSW |
4 |
49,450,784 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6575:Acnat1
|
UTSW |
4 |
49,450,785 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7545:Acnat1
|
UTSW |
4 |
49,449,142 (GRCm39) |
nonsense |
probably null |
|
|
R7891:Acnat1
|
UTSW |
4 |
49,449,181 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7970:Acnat1
|
UTSW |
4 |
49,449,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8219:Acnat1
|
UTSW |
4 |
49,447,748 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8232:Acnat1
|
UTSW |
4 |
49,450,817 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8312:Acnat1
|
UTSW |
4 |
49,449,142 (GRCm39) |
nonsense |
probably null |
|
|
R9408:Acnat1
|
UTSW |
4 |
49,447,773 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9746:Acnat1
|
UTSW |
4 |
49,450,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Acnat1
|
UTSW |
4 |
49,447,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCACTTTACTCTGGCATGG -3'
(R):5'- ATGCTTCCGTCACACTACAC -3'
Sequencing Primer
(F):5'- ACTCTGGCATGGACACTCTATTTAG -3'
(R):5'- TATACTTCCCGTGGAAAAGGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation