Incidental Mutation 'IGL01321:Acnat2'
ID |
74054 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acnat2
|
Ensembl Gene |
ENSMUSG00000060317 |
Gene Name |
acyl-coenzyme A amino acid N-acyltransferase 2 |
Synonyms |
C730036D15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
IGL01321
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
49379840-49408151 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49380269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 370
(S370P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081541]
[ENSMUST00000107698]
[ENSMUST00000125123]
|
AlphaFold |
Q8BGG9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081541
AA Change: S370P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080256 Gene: ENSMUSG00000060317 AA Change: S370P
Domain | Start | End | E-Value | Type |
Pfam:Bile_Hydr_Trans
|
15 |
144 |
6e-44 |
PFAM |
low complexity region
|
149 |
173 |
N/A |
INTRINSIC |
Pfam:BAAT_C
|
206 |
415 |
2e-79 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107698
AA Change: S352P
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103326 Gene: ENSMUSG00000060317 AA Change: S352P
Domain | Start | End | E-Value | Type |
Pfam:Bile_Hydr_Trans
|
14 |
145 |
9.8e-42 |
PFAM |
Pfam:BAAT_C
|
188 |
397 |
6.6e-79 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125123
|
SMART Domains |
Protein: ENSMUSP00000119135 Gene: ENSMUSG00000060317
Domain | Start | End | E-Value | Type |
Pfam:Bile_Hydr_Trans
|
14 |
145 |
2.4e-42 |
PFAM |
low complexity region
|
149 |
173 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139564
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
T |
C |
16: 85,696,363 (GRCm39) |
R265G |
probably benign |
Het |
Cd2ap |
T |
C |
17: 43,156,280 (GRCm39) |
S86G |
possibly damaging |
Het |
Cers3 |
A |
C |
7: 66,435,751 (GRCm39) |
|
probably benign |
Het |
Dnaaf2 |
G |
T |
12: 69,243,376 (GRCm39) |
P562T |
probably damaging |
Het |
Dnajc21 |
A |
C |
15: 10,447,188 (GRCm39) |
V520G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,592,041 (GRCm39) |
|
probably benign |
Het |
Extl3 |
T |
C |
14: 65,304,211 (GRCm39) |
N733D |
probably benign |
Het |
Gm5499 |
T |
A |
17: 87,385,928 (GRCm39) |
|
noncoding transcript |
Het |
Gstm6 |
T |
C |
3: 107,848,379 (GRCm39) |
Q180R |
probably benign |
Het |
Hdlbp |
G |
A |
1: 93,351,524 (GRCm39) |
R460W |
probably damaging |
Het |
Ift81 |
T |
C |
5: 122,749,031 (GRCm39) |
D40G |
probably damaging |
Het |
Igsf3 |
T |
A |
3: 101,334,338 (GRCm39) |
|
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,383,147 (GRCm39) |
T158A |
probably benign |
Het |
Lrrc59 |
C |
T |
11: 94,529,426 (GRCm39) |
R167* |
probably null |
Het |
Macf1 |
A |
G |
4: 123,334,567 (GRCm39) |
C4397R |
probably damaging |
Het |
Morc1 |
T |
C |
16: 48,402,825 (GRCm39) |
S583P |
probably benign |
Het |
Mucl3 |
A |
T |
17: 35,947,758 (GRCm39) |
N490K |
probably damaging |
Het |
Nipsnap2 |
T |
A |
5: 129,834,205 (GRCm39) |
*282R |
probably null |
Het |
Or2ag19 |
T |
C |
7: 106,443,956 (GRCm39) |
L46P |
probably damaging |
Het |
Or9m1b |
A |
T |
2: 87,836,589 (GRCm39) |
C178S |
probably damaging |
Het |
Parp14 |
T |
A |
16: 35,676,929 (GRCm39) |
Q1013L |
probably benign |
Het |
Pdzd8 |
A |
C |
19: 59,289,961 (GRCm39) |
S480A |
probably benign |
Het |
Piezo1 |
A |
T |
8: 123,214,339 (GRCm39) |
S1609R |
probably damaging |
Het |
Pkp4 |
G |
A |
2: 59,180,971 (GRCm39) |
|
probably null |
Het |
Plpp2 |
A |
T |
10: 79,363,327 (GRCm39) |
V106D |
probably damaging |
Het |
Rimbp2 |
T |
C |
5: 128,863,816 (GRCm39) |
Y724C |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 91,987,501 (GRCm39) |
L852* |
probably null |
Het |
Samd9l |
T |
A |
6: 3,376,259 (GRCm39) |
D334V |
probably benign |
Het |
Sipa1l2 |
G |
A |
8: 126,218,257 (GRCm39) |
T360M |
probably damaging |
Het |
Slc30a2 |
A |
T |
4: 134,070,611 (GRCm39) |
D5V |
probably damaging |
Het |
Spata31 |
T |
C |
13: 65,069,568 (GRCm39) |
I572T |
probably benign |
Het |
Tma16 |
G |
A |
8: 66,929,512 (GRCm39) |
L161F |
probably benign |
Het |
Trappc2b |
A |
T |
11: 51,576,670 (GRCm39) |
V76D |
probably damaging |
Het |
Trim69 |
A |
T |
2: 122,003,765 (GRCm39) |
E238V |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,307,388 (GRCm39) |
T205A |
probably benign |
Het |
|
Other mutations in Acnat2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00655:Acnat2
|
APN |
4 |
49,383,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01891:Acnat2
|
APN |
4 |
49,383,395 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01993:Acnat2
|
APN |
4 |
49,380,131 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02517:Acnat2
|
APN |
4 |
49,380,647 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02517:Acnat2
|
APN |
4 |
49,380,639 (GRCm39) |
nonsense |
probably null |
|
IGL03249:Acnat2
|
APN |
4 |
49,381,787 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4494001:Acnat2
|
UTSW |
4 |
49,383,133 (GRCm39) |
missense |
probably benign |
0.16 |
R0050:Acnat2
|
UTSW |
4 |
49,380,586 (GRCm39) |
missense |
probably benign |
0.03 |
R0462:Acnat2
|
UTSW |
4 |
49,383,084 (GRCm39) |
critical splice donor site |
probably null |
|
R0482:Acnat2
|
UTSW |
4 |
49,383,534 (GRCm39) |
missense |
probably benign |
0.09 |
R0590:Acnat2
|
UTSW |
4 |
49,383,273 (GRCm39) |
missense |
probably benign |
0.00 |
R0616:Acnat2
|
UTSW |
4 |
49,380,269 (GRCm39) |
missense |
probably damaging |
0.99 |
R1099:Acnat2
|
UTSW |
4 |
49,380,484 (GRCm39) |
missense |
probably benign |
0.01 |
R1678:Acnat2
|
UTSW |
4 |
49,380,568 (GRCm39) |
missense |
probably damaging |
0.98 |
R1710:Acnat2
|
UTSW |
4 |
49,380,587 (GRCm39) |
missense |
probably benign |
0.16 |
R2190:Acnat2
|
UTSW |
4 |
49,383,551 (GRCm39) |
start codon destroyed |
probably benign |
|
R4863:Acnat2
|
UTSW |
4 |
49,380,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R5031:Acnat2
|
UTSW |
4 |
49,380,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R5194:Acnat2
|
UTSW |
4 |
49,380,452 (GRCm39) |
missense |
probably benign |
|
R5936:Acnat2
|
UTSW |
4 |
49,383,362 (GRCm39) |
missense |
probably benign |
0.00 |
R6451:Acnat2
|
UTSW |
4 |
49,380,262 (GRCm39) |
missense |
probably benign |
0.00 |
R6526:Acnat2
|
UTSW |
4 |
49,383,497 (GRCm39) |
missense |
probably benign |
0.00 |
R6759:Acnat2
|
UTSW |
4 |
49,380,254 (GRCm39) |
missense |
probably benign |
0.01 |
R7180:Acnat2
|
UTSW |
4 |
49,381,803 (GRCm39) |
nonsense |
probably null |
|
R7356:Acnat2
|
UTSW |
4 |
49,383,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R7879:Acnat2
|
UTSW |
4 |
49,383,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R9626:Acnat2
|
UTSW |
4 |
49,380,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |