Incidental Mutation 'R8232:Acnat1'
| ID |
637170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acnat1
|
| Ensembl Gene |
ENSMUSG00000070985 |
| Gene Name |
acyl-coenzyme A amino acid N-acyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
067664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R8232 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
49447105-49473912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49450817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 98
(M98K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095086]
[ENSMUST00000107697]
[ENSMUST00000135976]
|
| AlphaFold |
A2AKK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095086
AA Change: M98K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092702
Gene: ENSMUSG00000070985
AA Change: M98K
| 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: M98K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103325
Gene: ENSMUSG00000070985
AA Change: M98K
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn3 |
A |
T |
19: 4,921,683 (GRCm39) |
W166R |
probably damaging |
Het |
| Adamts16 |
C |
A |
13: 70,941,217 (GRCm39) |
C390F |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,198 (GRCm39) |
D727V |
probably damaging |
Het |
| Bcr |
A |
G |
10: 75,001,883 (GRCm39) |
Y929C |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,757,329 (GRCm39) |
Y50F |
probably damaging |
Het |
| Camta2 |
G |
A |
11: 70,573,841 (GRCm39) |
R171C |
unknown |
Het |
| Ccnd2 |
A |
G |
6: 127,127,549 (GRCm39) |
L63P |
probably damaging |
Het |
| Clip1 |
G |
C |
5: 123,785,981 (GRCm39) |
D234E |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,746,149 (GRCm39) |
I3988N |
possibly damaging |
Het |
| Frmpd2 |
T |
G |
14: 33,261,724 (GRCm39) |
I843S |
probably damaging |
Het |
| Gcgr |
A |
G |
11: 120,427,328 (GRCm39) |
Y146C |
probably damaging |
Het |
| Gm5930 |
T |
G |
14: 44,573,181 (GRCm39) |
K158T |
probably damaging |
Het |
| Gnl1 |
T |
A |
17: 36,298,487 (GRCm39) |
C410* |
probably null |
Het |
| Gtf2h1 |
T |
A |
7: 46,451,103 (GRCm39) |
I4K |
probably benign |
Het |
| Il12b |
A |
G |
11: 44,299,401 (GRCm39) |
S157G |
possibly damaging |
Het |
| Jcad |
G |
T |
18: 4,674,862 (GRCm39) |
A875S |
probably benign |
Het |
| Kcnrg |
T |
A |
14: 61,845,386 (GRCm39) |
M142K |
probably benign |
Het |
| Krtap4-6 |
A |
C |
11: 99,556,568 (GRCm39) |
L53R |
unknown |
Het |
| Myo10 |
G |
A |
15: 25,804,400 (GRCm39) |
G1565D |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,469,157 (GRCm39) |
S806G |
probably damaging |
Het |
| Nlrp5 |
G |
T |
7: 23,116,770 (GRCm39) |
V165L |
probably benign |
Het |
| Nppa |
T |
C |
4: 148,085,795 (GRCm39) |
I134T |
possibly damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,938 (GRCm39) |
V44E |
noncoding transcript |
Het |
| Or51ai2 |
G |
A |
7: 103,586,980 (GRCm39) |
R131Q |
possibly damaging |
Het |
| Or5b107 |
A |
G |
19: 13,142,683 (GRCm39) |
M102V |
probably benign |
Het |
| Or5p68 |
A |
T |
7: 107,945,495 (GRCm39) |
M231K |
probably damaging |
Het |
| Or6c202 |
C |
A |
10: 128,996,097 (GRCm39) |
C252F |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,498,309 (GRCm39) |
F167I |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,722 (GRCm39) |
L740S |
probably damaging |
Het |
| Tmem183a |
T |
A |
1: 134,277,918 (GRCm39) |
D282V |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,636,442 (GRCm39) |
V255E |
possibly damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,035,309 (GRCm39) |
C185S |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,514,076 (GRCm39) |
M189K |
probably damaging |
Het |
| Vps50 |
T |
G |
6: 3,600,139 (GRCm39) |
V866G |
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 |
|
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 |
|
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'- ACAAAGATTGTCTCACCTGGAGG -3'
(R):5'- CGCAGATAGTGACCATCAAGG -3'
Sequencing Primer
(F):5'- TTGTCTCACCTGGAGGGAGAAAAAG -3'
(R):5'- TGACCATCAAGGCAACAGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation