Incidental Mutation 'R3195:Acnat1'
ID |
267584 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acnat1
|
Ensembl Gene |
ENSMUSG00000070985 |
Gene Name |
acyl-coenzyme A amino acid N-acyltransferase 1 |
Synonyms |
|
MMRRC Submission |
040616-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R3195 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
49447105-49473912 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 49447457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Alanine
at position 357
(P357A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095086]
[ENSMUST00000107697]
[ENSMUST00000135976]
|
AlphaFold |
A2AKK5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095086
AA Change: P375A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000092702 Gene: ENSMUSG00000070985 AA Change: P375A
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 damaging
Transcript: ENSMUST00000107697
AA Change: P357A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103325 Gene: ENSMUSG00000070985 AA Change: P357A
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (33/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
Calb2 |
C |
T |
8: 110,883,635 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
Dmtf1 |
A |
G |
5: 9,182,454 (GRCm39) |
|
probably benign |
Het |
Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
Gab2 |
A |
G |
7: 96,921,236 (GRCm39) |
T204A |
probably benign |
Het |
Gapdh |
T |
C |
6: 125,139,583 (GRCm39) |
N229S |
possibly damaging |
Het |
Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
Iqub |
G |
C |
6: 24,462,036 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
L1td1 |
A |
G |
4: 98,625,755 (GRCm39) |
E650G |
possibly damaging |
Het |
Lilra5 |
G |
A |
7: 4,241,756 (GRCm39) |
G185D |
probably damaging |
Het |
Lpin1 |
A |
G |
12: 16,615,584 (GRCm39) |
S323P |
possibly damaging |
Het |
Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
Myo1h |
G |
A |
5: 114,466,801 (GRCm39) |
C283Y |
probably benign |
Het |
Nfkbiz |
A |
G |
16: 55,639,991 (GRCm39) |
L122P |
probably damaging |
Het |
Or10c1 |
A |
G |
17: 37,522,427 (GRCm39) |
F106L |
possibly damaging |
Het |
Or1e35 |
T |
C |
11: 73,797,484 (GRCm39) |
Y278C |
possibly damaging |
Het |
Paqr8 |
A |
G |
1: 21,005,257 (GRCm39) |
E137G |
probably damaging |
Het |
Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
Pes1 |
T |
C |
11: 3,925,736 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
T |
5: 22,245,418 (GRCm39) |
I730N |
possibly damaging |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
Slc13a4 |
C |
T |
6: 35,245,861 (GRCm39) |
V595M |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,661,222 (GRCm39) |
E939G |
possibly damaging |
Het |
Spg11 |
A |
G |
2: 121,913,879 (GRCm39) |
|
probably null |
Het |
Trpm1 |
T |
A |
7: 63,849,061 (GRCm39) |
Y102* |
probably null |
Het |
Usp42 |
A |
G |
5: 143,702,954 (GRCm39) |
S556P |
probably benign |
Het |
Zfp957 |
A |
G |
14: 79,450,332 (GRCm39) |
V489A |
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 |
R2401:Acnat1
|
UTSW |
4 |
49,451,077 (GRCm39) |
missense |
possibly damaging |
0.72 |
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'- TCCCAGCAATTCCCATCTGATG -3'
(R):5'- TACTTCCCGTGGAAAAGGC -3'
Sequencing Primer
(F):5'- TACAACAATTCCAGCATTTTCGC -3'
(R):5'- AGGCCCAGGGGAAGATCC -3'
|
Posted On |
2015-02-18 |