Incidental Mutation 'R2401:Acnat1'
ID |
248676 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acnat1
|
Ensembl Gene |
ENSMUSG00000070985 |
Gene Name |
acyl-coenzyme A amino acid N-acyltransferase 1 |
Synonyms |
|
MMRRC Submission |
040367-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R2401 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
49447105-49473912 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49451077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 11
(N11K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121168
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095086]
[ENSMUST00000107697]
[ENSMUST00000135976]
|
AlphaFold |
A2AKK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095086
AA Change: N11K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000092702 Gene: ENSMUSG00000070985 AA Change: N11K
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 |
probably benign
Transcript: ENSMUST00000107697
AA Change: N11K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103325 Gene: ENSMUSG00000070985 AA Change: N11K
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 |
possibly damaging
Transcript: ENSMUST00000135976
AA Change: N11K
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
C |
7: 119,882,312 (GRCm39) |
L1158P |
probably damaging |
Het |
Ammecr1l |
T |
A |
18: 31,909,056 (GRCm39) |
I217N |
possibly damaging |
Het |
Ankrd11 |
G |
A |
8: 123,635,473 (GRCm39) |
R54* |
probably null |
Het |
Ccdc178 |
C |
T |
18: 22,264,471 (GRCm39) |
|
probably null |
Het |
Clcn7 |
T |
C |
17: 25,372,114 (GRCm39) |
S425P |
probably benign |
Het |
Cnmd |
A |
G |
14: 79,894,045 (GRCm39) |
V114A |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,686,941 (GRCm39) |
T651A |
unknown |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,923,778 (GRCm39) |
|
probably null |
Het |
Dmrta1 |
A |
T |
4: 89,579,853 (GRCm39) |
D271V |
probably benign |
Het |
Efcab3 |
T |
A |
11: 104,963,144 (GRCm39) |
|
probably null |
Het |
Exo5 |
T |
C |
4: 120,779,194 (GRCm39) |
I224V |
probably damaging |
Het |
Fam162b |
C |
A |
10: 51,463,314 (GRCm39) |
A118S |
probably damaging |
Het |
Glb1 |
A |
G |
9: 114,283,325 (GRCm39) |
T406A |
possibly damaging |
Het |
Grk3 |
T |
C |
5: 113,062,849 (GRCm39) |
N666S |
probably benign |
Het |
Hars2 |
T |
C |
18: 36,922,576 (GRCm39) |
F370L |
possibly damaging |
Het |
Ighv8-11 |
T |
G |
12: 115,531,223 (GRCm39) |
|
probably benign |
Het |
Iho1 |
G |
T |
9: 108,290,205 (GRCm39) |
T133N |
possibly damaging |
Het |
Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
Itgb4 |
A |
G |
11: 115,897,389 (GRCm39) |
D1534G |
possibly damaging |
Het |
Kcnk2 |
G |
C |
1: 189,072,214 (GRCm39) |
T38S |
possibly damaging |
Het |
Kif16b |
C |
T |
2: 142,598,042 (GRCm39) |
V527I |
probably benign |
Het |
Kmt2b |
A |
G |
7: 30,276,133 (GRCm39) |
Y1789H |
probably damaging |
Het |
Lpl |
A |
C |
8: 69,353,895 (GRCm39) |
D412A |
possibly damaging |
Het |
Lrrc27 |
T |
G |
7: 138,803,529 (GRCm39) |
L151R |
probably damaging |
Het |
Muc17 |
T |
C |
5: 137,190,980 (GRCm39) |
|
probably benign |
Het |
Nup205 |
T |
A |
6: 35,185,069 (GRCm39) |
Y829* |
probably null |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Olfm4 |
A |
G |
14: 80,259,192 (GRCm39) |
Y447C |
probably damaging |
Het |
Or4f57 |
T |
C |
2: 111,790,494 (GRCm39) |
Y308C |
probably benign |
Het |
Pcdhb6 |
T |
C |
18: 37,468,222 (GRCm39) |
V381A |
probably benign |
Het |
Prmt2 |
C |
T |
10: 76,061,249 (GRCm39) |
W79* |
probably null |
Het |
Skic2 |
T |
C |
17: 35,059,361 (GRCm39) |
M1029V |
probably benign |
Het |
Stil |
A |
G |
4: 114,873,483 (GRCm39) |
R369G |
probably null |
Het |
Ttc41 |
T |
C |
10: 86,560,238 (GRCm39) |
I387T |
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 88,987,187 (GRCm39) |
L1262P |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Zfp804b |
T |
C |
5: 6,819,445 (GRCm39) |
H1206R |
probably damaging |
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 |
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 |
R3948:Acnat1
|
UTSW |
4 |
49,447,477 (GRCm39) |
missense |
possibly damaging |
0.52 |
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'- TGGACCCCTACATAGTCACC -3'
(R):5'- CTTCAAGATCCTGGTTGGGG -3'
Sequencing Primer
(F):5'- CCCCCAAGGCCGGTGTC -3'
(R):5'- CAAGATCCTGGTTGGGGGAAGG -3'
|
Posted On |
2014-11-11 |