Incidental Mutation 'R0568:Acnat1'
| ID |
46251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acnat1
|
| Ensembl Gene |
ENSMUSG00000070985 |
| Gene Name |
acyl-coenzyme A amino acid N-acyltransferase 1 |
| Synonyms |
|
| MMRRC Submission |
038759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R0568 (G1)
|
| Quality Score |
176 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
49447105-49473912 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 49451003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 36
(T36I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121168
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095086]
[ENSMUST00000107697]
[ENSMUST00000135976]
|
| AlphaFold |
A2AKK5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095086
AA Change: T36I
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092702
Gene: ENSMUSG00000070985
AA Change: T36I
| 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: T36I
PolyPhen 2
Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103325
Gene: ENSMUSG00000070985
AA Change: T36I
| 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: T36I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
C |
15: 94,189,594 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,336,789 (GRCm39) |
L1558S |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,114,377 (GRCm39) |
|
probably null |
Het |
| Bag2 |
T |
C |
1: 33,786,059 (GRCm39) |
M88V |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,908,173 (GRCm39) |
|
probably null |
Het |
| C8b |
A |
G |
4: 104,650,577 (GRCm39) |
I462V |
probably benign |
Het |
| Cfap410 |
C |
T |
10: 77,818,872 (GRCm39) |
T181I |
possibly damaging |
Het |
| Cfap410 |
A |
T |
10: 77,820,381 (GRCm39) |
*250C |
probably null |
Het |
| Cnpy4 |
A |
G |
5: 138,190,839 (GRCm39) |
E167G |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,939,704 (GRCm39) |
V624A |
possibly damaging |
Het |
| Gm4553 |
G |
T |
7: 141,719,357 (GRCm39) |
P24T |
unknown |
Het |
| Gna12 |
A |
G |
5: 140,746,638 (GRCm39) |
V269A |
possibly damaging |
Het |
| Gtf2ird2 |
G |
T |
5: 134,240,083 (GRCm39) |
E302* |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,305,248 (GRCm39) |
S3140R |
probably benign |
Het |
| Hspa4 |
A |
G |
11: 53,153,703 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
A |
T |
7: 4,687,431 (GRCm39) |
L60* |
probably null |
Het |
| Lats1 |
A |
T |
10: 7,588,292 (GRCm39) |
I970F |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,559,442 (GRCm39) |
|
probably benign |
Het |
| Lrrc3 |
T |
A |
10: 77,737,419 (GRCm39) |
R6W |
probably damaging |
Het |
| Lxn |
C |
T |
3: 67,368,335 (GRCm39) |
A143T |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,765,903 (GRCm39) |
I1390T |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,386,835 (GRCm39) |
I286N |
probably damaging |
Het |
| Or4c107 |
T |
A |
2: 88,789,387 (GRCm39) |
Y192* |
probably null |
Het |
| Pitpnm2 |
A |
G |
5: 124,278,580 (GRCm39) |
|
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,433,694 (GRCm39) |
V581A |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,959 (GRCm39) |
H378Q |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,637,631 (GRCm39) |
V173A |
probably damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Smc4 |
T |
C |
3: 68,929,794 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Syngr3 |
C |
T |
17: 24,905,555 (GRCm39) |
A140T |
probably benign |
Het |
| Tent2 |
A |
G |
13: 93,291,500 (GRCm39) |
S381P |
probably benign |
Het |
| Tprn |
T |
C |
2: 25,154,333 (GRCm39) |
V545A |
probably damaging |
Het |
| Trim66 |
T |
C |
7: 109,059,902 (GRCm39) |
H828R |
probably benign |
Het |
| Ugt2b5 |
G |
A |
5: 87,285,224 (GRCm39) |
|
probably benign |
Het |
| Vps9d1 |
A |
G |
8: 123,973,487 (GRCm39) |
V432A |
probably damaging |
Het |
| Zswim9 |
A |
T |
7: 12,994,952 (GRCm39) |
D401E |
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 |
|
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 |
|
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'- TGGCCTTGGATGGAATCCTGACTG -3'
(R):5'- GGACAGCCTTGCCTTGGACTTTTC -3'
Sequencing Primer
(F):5'- AAGGGGCTGTTCATCACATC -3'
(R):5'- TGGACTTTTCAGTCTCCAGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation