Incidental Mutation 'IGL03401:AW209491'
| ID |
421422 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
AW209491
|
| Ensembl Gene |
ENSMUSG00000039182 |
| Gene Name |
expressed sequence AW209491 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
IGL03401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
14804830-14812787 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14812041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 298
(D298G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038690]
[ENSMUST00000178289]
[ENSMUST00000221168]
[ENSMUST00000222052]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038690
AA Change: D298G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041523
Gene: ENSMUSG00000039182
AA Change: D298G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1308
|
38 |
401 |
2.2e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178289
AA Change: D298G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136376
Gene: ENSMUSG00000039182
AA Change: D298G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1308
|
37 |
401 |
1.1e-121 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221168
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222052
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,384,223 (GRCm39) |
R581* |
probably null |
Het |
| Actn1 |
A |
T |
12: 80,215,741 (GRCm39) |
L799* |
probably null |
Het |
| Adam12 |
A |
T |
7: 133,518,192 (GRCm39) |
N327K |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,763,849 (GRCm39) |
V1314A |
probably damaging |
Het |
| Agbl4 |
G |
T |
4: 110,976,216 (GRCm39) |
R191L |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,847,786 (GRCm39) |
I611T |
probably damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,330,953 (GRCm39) |
S556T |
possibly damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,861,258 (GRCm39) |
M763T |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,336,127 (GRCm39) |
D388G |
probably benign |
Het |
| Cept1 |
T |
C |
3: 106,440,706 (GRCm39) |
E151G |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,174,526 (GRCm39) |
K139E |
probably damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,146 (GRCm39) |
Y7* |
probably null |
Het |
| Enpep |
T |
A |
3: 129,106,269 (GRCm39) |
Q319L |
probably benign |
Het |
| F13a1 |
A |
G |
13: 37,082,054 (GRCm39) |
I550T |
probably benign |
Het |
| Fbxw19 |
A |
G |
9: 109,324,038 (GRCm39) |
|
probably null |
Het |
| Frem3 |
T |
G |
8: 81,341,170 (GRCm39) |
D1154E |
probably damaging |
Het |
| Frmpd1 |
G |
T |
4: 45,284,383 (GRCm39) |
C1068F |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,820,814 (GRCm39) |
P5516T |
probably benign |
Het |
| Hyou1 |
G |
A |
9: 44,296,206 (GRCm39) |
A429T |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,000,790 (GRCm39) |
E2145K |
probably benign |
Het |
| Map1b |
A |
T |
13: 99,563,776 (GRCm39) |
V2397D |
unknown |
Het |
| Mcm3ap |
T |
C |
10: 76,320,483 (GRCm39) |
|
probably benign |
Het |
| Mgst2 |
T |
G |
3: 51,571,933 (GRCm39) |
S20R |
possibly damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,070,987 (GRCm39) |
|
probably null |
Het |
| Nup93 |
T |
A |
8: 95,036,339 (GRCm39) |
|
probably null |
Het |
| Or1e1f |
T |
C |
11: 73,856,388 (GRCm39) |
|
probably benign |
Het |
| Papola |
A |
T |
12: 105,795,381 (GRCm39) |
T611S |
probably benign |
Het |
| Pik3ca |
C |
A |
3: 32,491,963 (GRCm39) |
|
probably null |
Het |
| Pklr |
T |
C |
3: 89,050,036 (GRCm39) |
V337A |
probably benign |
Het |
| Prl7b1 |
A |
G |
13: 27,785,964 (GRCm39) |
Y235H |
probably benign |
Het |
| Proc |
T |
C |
18: 32,256,326 (GRCm39) |
Y447C |
possibly damaging |
Het |
| Pum1 |
T |
C |
4: 130,470,992 (GRCm39) |
|
probably benign |
Het |
| Rimklb |
A |
T |
6: 122,441,077 (GRCm39) |
I32N |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,114,951 (GRCm39) |
D644E |
possibly damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Shbg |
A |
G |
11: 69,505,925 (GRCm39) |
S361P |
probably damaging |
Het |
| Trmt9b |
A |
C |
8: 36,972,823 (GRCm39) |
D91A |
probably damaging |
Het |
| Zfp647 |
T |
A |
15: 76,795,568 (GRCm39) |
H364L |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,160 (GRCm39) |
S267T |
probably benign |
Het |
|
| Other mutations in AW209491 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:AW209491
|
APN |
13 |
14,811,660 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02634:AW209491
|
APN |
13 |
14,812,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02635:AW209491
|
APN |
13 |
14,811,852 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0067:AW209491
|
UTSW |
13 |
14,812,328 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0067:AW209491
|
UTSW |
13 |
14,812,328 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0536:AW209491
|
UTSW |
13 |
14,811,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:AW209491
|
UTSW |
13 |
14,812,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:AW209491
|
UTSW |
13 |
14,811,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:AW209491
|
UTSW |
13 |
14,811,318 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4110:AW209491
|
UTSW |
13 |
14,812,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4379:AW209491
|
UTSW |
13 |
14,812,412 (GRCm39) |
makesense |
probably null |
|
|
R5153:AW209491
|
UTSW |
13 |
14,811,764 (GRCm39) |
missense |
probably benign |
|
|
R5987:AW209491
|
UTSW |
13 |
14,812,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5988:AW209491
|
UTSW |
13 |
14,812,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5990:AW209491
|
UTSW |
13 |
14,812,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6019:AW209491
|
UTSW |
13 |
14,812,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6021:AW209491
|
UTSW |
13 |
14,812,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6022:AW209491
|
UTSW |
13 |
14,812,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6160:AW209491
|
UTSW |
13 |
14,811,306 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6179:AW209491
|
UTSW |
13 |
14,811,668 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6194:AW209491
|
UTSW |
13 |
14,811,705 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7594:AW209491
|
UTSW |
13 |
14,811,831 (GRCm39) |
missense |
probably benign |
|
|
R7947:AW209491
|
UTSW |
13 |
14,811,447 (GRCm39) |
missense |
probably benign |
|
|
R8316:AW209491
|
UTSW |
13 |
14,812,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8425:AW209491
|
UTSW |
13 |
14,811,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:AW209491
|
UTSW |
13 |
14,812,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9635:AW209491
|
UTSW |
13 |
14,811,957 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation