Incidental Mutation 'IGL01662:Acsm5'
| ID |
103181 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acsm5
|
| Ensembl Gene |
ENSMUSG00000030972 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 5 |
| Synonyms |
C730027J19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
IGL01662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
119125354-119142583 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119137511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 402
(I402F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066465]
[ENSMUST00000207307]
[ENSMUST00000207381]
[ENSMUST00000207387]
[ENSMUST00000207440]
[ENSMUST00000207796]
[ENSMUST00000207813]
|
| AlphaFold |
Q8BGA8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066465
AA Change: I402F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: I402F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
32 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
65 |
477 |
2.9e-78 |
PFAM |
|
Pfam:AMP-binding_C
|
485 |
565 |
3.3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207307
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000207381
AA Change: R91S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207387
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207440
AA Change: I402F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207796
AA Change: I402F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207813
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2b |
T |
C |
9: 119,261,570 (GRCm39) |
Y388H |
probably damaging |
Het |
| Adh1 |
G |
A |
3: 137,988,512 (GRCm39) |
D162N |
possibly damaging |
Het |
| C6 |
G |
T |
15: 4,822,236 (GRCm39) |
R585I |
probably damaging |
Het |
| Ccdc169 |
T |
A |
3: 55,070,732 (GRCm39) |
|
probably null |
Het |
| Cdh13 |
T |
A |
8: 119,401,916 (GRCm39) |
M106K |
probably damaging |
Het |
| Cep78 |
C |
T |
19: 15,938,359 (GRCm39) |
E530K |
probably damaging |
Het |
| Cyfip1 |
T |
A |
7: 55,546,487 (GRCm39) |
L533Q |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,460 (GRCm39) |
V1181A |
probably benign |
Het |
| Galnt7 |
T |
G |
8: 57,984,769 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,498 (GRCm39) |
R61C |
unknown |
Het |
| Gucy1a1 |
T |
A |
3: 82,016,560 (GRCm39) |
I143F |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,613,050 (GRCm39) |
N1410D |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,856,020 (GRCm39) |
T741I |
probably benign |
Het |
| Mdc1 |
T |
C |
17: 36,163,397 (GRCm39) |
S982P |
probably benign |
Het |
| Mfsd4b2 |
A |
G |
10: 39,798,193 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
G |
7: 47,818,172 (GRCm39) |
I188L |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,862 (GRCm39) |
S554C |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,220,957 (GRCm39) |
N1715D |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,605,119 (GRCm39) |
S985T |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,155,866 (GRCm39) |
Q22R |
probably benign |
Het |
| Or52i2 |
T |
C |
7: 102,319,927 (GRCm39) |
W267R |
probably damaging |
Het |
| Otulinl |
C |
T |
15: 27,658,151 (GRCm39) |
D290N |
probably damaging |
Het |
| Pabir1 |
A |
G |
19: 24,453,948 (GRCm39) |
V258A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,322 (GRCm39) |
E815G |
probably damaging |
Het |
| Ppp2r2c |
T |
A |
5: 37,083,744 (GRCm39) |
I95N |
probably damaging |
Het |
| Ppp4r4 |
G |
A |
12: 103,569,225 (GRCm39) |
E717K |
possibly damaging |
Het |
| Prdm2 |
A |
G |
4: 142,860,138 (GRCm39) |
S1051P |
possibly damaging |
Het |
| Rnf214 |
T |
C |
9: 45,811,084 (GRCm39) |
D193G |
probably damaging |
Het |
| Sirpb1b |
G |
T |
3: 15,608,244 (GRCm39) |
T167K |
probably damaging |
Het |
| Slc16a3 |
C |
A |
11: 120,847,532 (GRCm39) |
S240* |
probably null |
Het |
| Snx14 |
T |
A |
9: 88,267,891 (GRCm39) |
|
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,256,866 (GRCm39) |
|
probably benign |
Het |
| Stk-ps2 |
A |
T |
1: 46,068,522 (GRCm39) |
|
noncoding transcript |
Het |
| Taar7b |
A |
T |
10: 23,875,874 (GRCm39) |
D13V |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,066,506 (GRCm39) |
E740G |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,115,279 (GRCm39) |
A2054V |
possibly damaging |
Het |
| Zfp106 |
A |
G |
2: 120,354,034 (GRCm39) |
V211A |
probably benign |
Het |
| Zfp112 |
A |
G |
7: 23,825,379 (GRCm39) |
H449R |
probably benign |
Het |
|
| Other mutations in Acsm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Acsm5
|
APN |
7 |
119,141,661 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02228:Acsm5
|
APN |
7 |
119,131,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02380:Acsm5
|
APN |
7 |
119,136,509 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02709:Acsm5
|
APN |
7 |
119,134,041 (GRCm39) |
nonsense |
probably null |
|
|
P4717OSA:Acsm5
|
UTSW |
7 |
119,131,195 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0506:Acsm5
|
UTSW |
7 |
119,137,319 (GRCm39) |
nonsense |
probably null |
|
|
R0518:Acsm5
|
UTSW |
7 |
119,135,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0866:Acsm5
|
UTSW |
7 |
119,140,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1171:Acsm5
|
UTSW |
7 |
119,140,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2362:Acsm5
|
UTSW |
7 |
119,127,649 (GRCm39) |
start gained |
probably benign |
|
|
R2511:Acsm5
|
UTSW |
7 |
119,129,677 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4670:Acsm5
|
UTSW |
7 |
119,130,983 (GRCm39) |
splice site |
probably null |
|
|
R4908:Acsm5
|
UTSW |
7 |
119,137,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Acsm5
|
UTSW |
7 |
119,133,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5038:Acsm5
|
UTSW |
7 |
119,134,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Acsm5
|
UTSW |
7 |
119,136,502 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6337:Acsm5
|
UTSW |
7 |
119,133,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6481:Acsm5
|
UTSW |
7 |
119,134,104 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7268:Acsm5
|
UTSW |
7 |
119,136,511 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7275:Acsm5
|
UTSW |
7 |
119,136,511 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7509:Acsm5
|
UTSW |
7 |
119,133,611 (GRCm39) |
missense |
probably benign |
|
|
R7794:Acsm5
|
UTSW |
7 |
119,137,352 (GRCm39) |
unclassified |
probably benign |
|
|
R8021:Acsm5
|
UTSW |
7 |
119,141,616 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8178:Acsm5
|
UTSW |
7 |
119,141,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8797:Acsm5
|
UTSW |
7 |
119,137,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Acsm5
|
UTSW |
7 |
119,136,434 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2014-01-21 |
Incidental Mutation