Incidental Mutation 'R0536:AW209491'
| ID |
49467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AW209491
|
| Ensembl Gene |
ENSMUSG00000039182 |
| Gene Name |
expressed sequence AW209491 |
| Synonyms |
|
| MMRRC Submission |
038728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.242)
|
| Stock # |
R0536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
14804830-14812787 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14811558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 137
(Y137C)
|
| 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 damaging
Transcript: ENSMUST00000038690
AA Change: Y137C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041523
Gene: ENSMUSG00000039182
AA Change: Y137C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1308
|
38 |
401 |
2.2e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178289
AA Change: Y137C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136376
Gene: ENSMUSG00000039182
AA Change: Y137C
| 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
|
| Meta Mutation Damage Score |
0.8475 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
C |
11: 84,171,342 (GRCm39) |
|
probably benign |
Het |
| Agrn |
A |
T |
4: 156,264,010 (GRCm39) |
D84E |
probably benign |
Het |
| Akap11 |
A |
G |
14: 78,751,464 (GRCm39) |
S308P |
probably damaging |
Het |
| Atp6v1c2 |
A |
T |
12: 17,357,509 (GRCm39) |
|
probably null |
Het |
| Chst9 |
G |
A |
18: 15,628,387 (GRCm39) |
|
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,223,826 (GRCm39) |
T122A |
probably damaging |
Het |
| Hoxb5 |
T |
C |
11: 96,194,854 (GRCm39) |
S139P |
possibly damaging |
Het |
| Ikzf4 |
T |
A |
10: 128,477,118 (GRCm39) |
E64D |
probably benign |
Het |
| Kif21a |
C |
A |
15: 90,843,886 (GRCm39) |
|
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,658,951 (GRCm39) |
R2036C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,622,839 (GRCm39) |
V311D |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mylk |
T |
C |
16: 34,820,757 (GRCm39) |
V1903A |
possibly damaging |
Het |
| Naa30 |
C |
T |
14: 49,410,534 (GRCm39) |
A154V |
possibly damaging |
Het |
| Or2ag1 |
T |
A |
7: 106,313,528 (GRCm39) |
Y120F |
probably damaging |
Het |
| Or52z12 |
T |
C |
7: 103,233,468 (GRCm39) |
S80P |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,625 (GRCm39) |
Q139K |
probably benign |
Het |
| Pgm3 |
C |
T |
9: 86,449,589 (GRCm39) |
V144M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,927 (GRCm39) |
S211C |
probably damaging |
Het |
| Setx |
T |
C |
2: 29,048,260 (GRCm39) |
Y1954H |
possibly damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,791,137 (GRCm39) |
Q1162* |
probably null |
Het |
| Sptbn2 |
T |
A |
19: 4,776,718 (GRCm39) |
D255E |
probably damaging |
Het |
| Ttc39b |
T |
C |
4: 83,145,435 (GRCm39) |
E597G |
probably damaging |
Het |
| Vldlr |
G |
A |
19: 27,217,364 (GRCm39) |
A436T |
probably damaging |
Het |
| Wdr72 |
G |
A |
9: 74,064,690 (GRCm39) |
G574D |
probably damaging |
Het |
| Zzz3 |
T |
G |
3: 152,154,465 (GRCm39) |
I572S |
probably damaging |
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 |
|
IGL03401:AW209491
|
APN |
13 |
14,812,041 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCCATCGTGGAATCGGCAG -3'
(R):5'- CAGAAGTTCTTGGCCCTCGTCATC -3'
Sequencing Primer
(F):5'- TCGTGGAATCGGCAGAGAAC -3'
(R):5'- AGAGTTGACGGCTACAATGTCTC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation