Incidental Mutation 'IGL02703:AI593442'
| ID |
304193 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AI593442
|
| Ensembl Gene |
ENSMUSG00000078307 |
| Gene Name |
expressed sequence AI593442 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
IGL02703
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
52584342-52591080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 52589418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 53
(L53R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098768]
[ENSMUST00000213843]
[ENSMUST00000213937]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098768
AA Change: L53R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096365
Gene: ENSMUSG00000078307
AA Change: L53R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213843
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213937
AA Change: L53R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
A |
T |
3: 37,118,390 (GRCm39) |
Q60L |
probably damaging |
Het |
| Bmp2 |
T |
G |
2: 133,403,324 (GRCm39) |
S292A |
probably benign |
Het |
| Cd37 |
T |
C |
7: 44,884,949 (GRCm39) |
D186G |
probably benign |
Het |
| Cenpf |
T |
C |
1: 189,391,955 (GRCm39) |
I626V |
probably benign |
Het |
| Faim |
T |
A |
9: 98,874,254 (GRCm39) |
S49T |
probably benign |
Het |
| Glrb |
T |
G |
3: 80,758,300 (GRCm39) |
E371A |
probably benign |
Het |
| Kcne2 |
T |
C |
16: 92,093,838 (GRCm39) |
S122P |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Or10v1 |
A |
G |
19: 11,873,606 (GRCm39) |
T74A |
possibly damaging |
Het |
| Or2f1 |
T |
G |
6: 42,721,010 (GRCm39) |
I13S |
possibly damaging |
Het |
| Or8k3 |
T |
A |
2: 86,059,323 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
C |
A |
5: 3,665,120 (GRCm39) |
H573Q |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,333,925 (GRCm39) |
S235P |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Slc41a2 |
T |
C |
10: 83,090,711 (GRCm39) |
K491R |
probably damaging |
Het |
| Sugct |
T |
G |
13: 17,627,125 (GRCm39) |
T243P |
possibly damaging |
Het |
| Tnfaip3 |
G |
T |
10: 18,882,780 (GRCm39) |
D212E |
probably damaging |
Het |
| Trim68 |
A |
G |
7: 102,333,286 (GRCm39) |
V132A |
probably damaging |
Het |
|
| Other mutations in AI593442 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1370:AI593442
|
UTSW |
9 |
52,589,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:AI593442
|
UTSW |
9 |
52,589,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2118:AI593442
|
UTSW |
9 |
52,588,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2248:AI593442
|
UTSW |
9 |
52,589,114 (GRCm39) |
small deletion |
probably benign |
|
|
R4154:AI593442
|
UTSW |
9 |
52,589,204 (GRCm39) |
missense |
probably benign |
|
|
R5081:AI593442
|
UTSW |
9 |
52,589,114 (GRCm39) |
small deletion |
probably benign |
|
|
X0002:AI593442
|
UTSW |
9 |
52,589,114 (GRCm39) |
small deletion |
probably benign |
|
|
Z1176:AI593442
|
UTSW |
9 |
52,589,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:AI593442
|
UTSW |
9 |
52,589,212 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Posted On |
2015-04-16 |
Incidental Mutation