Incidental Mutation 'R6022:AW209491'
ID |
479009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
AW209491
|
Ensembl Gene |
ENSMUSG00000039182 |
Gene Name |
expressed sequence AW209491 |
Synonyms |
|
MMRRC Submission |
043256-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.242)
|
Stock # |
R6022 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
14804830-14812787 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 14812365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 406
(A406V)
|
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: A406V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000041523 Gene: ENSMUSG00000039182 AA Change: A406V
Domain | Start | End | E-Value | Type |
Pfam:DUF1308
|
38 |
401 |
2.2e-115 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178289
AA Change: A406V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000136376 Gene: ENSMUSG00000039182 AA Change: A406V
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 |
0.0614 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,240,759 (GRCm39) |
F874C |
probably damaging |
Het |
Adam9 |
T |
C |
8: 25,493,321 (GRCm39) |
T96A |
possibly damaging |
Het |
Arhgef26 |
C |
T |
3: 62,336,360 (GRCm39) |
T633M |
probably damaging |
Het |
Atxn2l |
A |
G |
7: 126,095,607 (GRCm39) |
|
probably null |
Het |
Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
Caskin1 |
T |
A |
17: 24,715,709 (GRCm39) |
F158I |
probably benign |
Het |
Ces1g |
T |
A |
8: 94,055,085 (GRCm39) |
N204I |
probably damaging |
Het |
Chd1 |
A |
G |
17: 17,598,035 (GRCm39) |
I41V |
probably benign |
Het |
Crybg2 |
A |
T |
4: 133,801,584 (GRCm39) |
K915* |
probably null |
Het |
Dock4 |
T |
C |
12: 40,798,109 (GRCm39) |
V911A |
probably benign |
Het |
Dok5 |
A |
G |
2: 170,721,142 (GRCm39) |
Y302C |
probably damaging |
Het |
Dpysl4 |
A |
T |
7: 138,666,000 (GRCm39) |
|
probably benign |
Het |
Dsc3 |
A |
C |
18: 20,099,395 (GRCm39) |
V707G |
probably damaging |
Het |
Endog |
A |
G |
2: 30,062,921 (GRCm39) |
Y187C |
possibly damaging |
Het |
Fcrl5 |
A |
G |
3: 87,363,070 (GRCm39) |
T526A |
probably benign |
Het |
Gcat |
T |
C |
15: 78,926,478 (GRCm39) |
V116A |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,390,967 (GRCm39) |
D3975G |
probably damaging |
Het |
Jmy |
G |
T |
13: 93,590,086 (GRCm39) |
|
probably null |
Het |
Kif1b |
T |
C |
4: 149,282,989 (GRCm39) |
I1273V |
probably benign |
Het |
Lrriq1 |
G |
T |
10: 103,051,395 (GRCm39) |
N452K |
possibly damaging |
Het |
Lrrn3 |
T |
C |
12: 41,503,429 (GRCm39) |
E296G |
probably damaging |
Het |
Marco |
G |
A |
1: 120,416,294 (GRCm39) |
L208F |
probably benign |
Het |
Mme |
T |
A |
3: 63,272,218 (GRCm39) |
W606R |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,661,827 (GRCm39) |
P1403S |
probably benign |
Het |
Phc3 |
A |
G |
3: 30,984,174 (GRCm39) |
S647P |
probably damaging |
Het |
Prx |
A |
G |
7: 27,216,998 (GRCm39) |
K500E |
probably damaging |
Het |
Ptpn22 |
T |
A |
3: 103,793,421 (GRCm39) |
V524E |
probably benign |
Het |
Ptprj |
A |
T |
2: 90,301,667 (GRCm39) |
I155K |
probably benign |
Het |
Rad51ap2 |
A |
G |
12: 11,508,523 (GRCm39) |
E815G |
probably damaging |
Het |
Rnf150 |
T |
C |
8: 83,769,358 (GRCm39) |
V381A |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,376,836 (GRCm39) |
K5103R |
probably benign |
Het |
Speer4a2 |
T |
G |
5: 26,289,677 (GRCm39) |
E250A |
probably benign |
Het |
Tecpr1 |
A |
T |
5: 144,136,009 (GRCm39) |
W961R |
possibly damaging |
Het |
Tnn |
A |
T |
1: 159,937,928 (GRCm39) |
D932E |
probably benign |
Het |
Tram2 |
G |
A |
1: 21,149,361 (GRCm39) |
|
probably benign |
Het |
Trbv26 |
T |
A |
6: 41,204,509 (GRCm39) |
|
probably benign |
Het |
Trmt11 |
A |
G |
10: 30,463,497 (GRCm39) |
I206T |
possibly damaging |
Het |
Ttk |
T |
C |
9: 83,721,375 (GRCm39) |
Y87H |
probably damaging |
Het |
Uri1 |
A |
T |
7: 37,660,902 (GRCm39) |
|
probably benign |
Het |
Vmn1r173 |
A |
G |
7: 23,402,260 (GRCm39) |
D165G |
probably benign |
Het |
Xpc |
A |
G |
6: 91,476,618 (GRCm39) |
S494P |
probably damaging |
Het |
Zfp438 |
T |
A |
18: 5,213,419 (GRCm39) |
N513I |
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 |
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 |
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'- TGCCTTGAGACTAGTGGCAAG -3'
(R):5'- GGATACATAAGACTGTCAATTGGG -3'
Sequencing Primer
(F):5'- GTGGCAAGTTCAAAAATTAATAGCCG -3'
(R):5'- ATATATGGGAAGGCCAGC -3'
|
Posted On |
2017-06-26 |