Incidental Mutation 'IGL01411:AW551984'
ID |
80038 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
AW551984
|
Ensembl Gene |
ENSMUSG00000038112 |
Gene Name |
expressed sequence AW551984 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL01411
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 39505087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 468
(D468E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
|
AlphaFold |
Q8BGF0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042485
AA Change: D468E
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: D468E
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119722
AA Change: D468E
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: D468E
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128054
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147753
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
G |
A |
19: 31,888,629 (GRCm39) |
E36K |
possibly damaging |
Het |
Alox8 |
A |
T |
11: 69,079,516 (GRCm39) |
S257R |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,150,912 (GRCm39) |
S1960P |
probably damaging |
Het |
Arhgap35 |
T |
C |
7: 16,298,192 (GRCm39) |
N291S |
probably benign |
Het |
B3gnt6 |
A |
C |
7: 97,843,730 (GRCm39) |
F77V |
probably damaging |
Het |
C1qtnf7 |
A |
T |
5: 43,766,403 (GRCm39) |
M1L |
probably benign |
Het |
Calm3 |
T |
C |
7: 16,651,409 (GRCm39) |
T63A |
probably benign |
Het |
Ccdc33 |
G |
A |
9: 58,024,919 (GRCm39) |
|
probably benign |
Het |
Cdh4 |
C |
T |
2: 179,422,196 (GRCm39) |
R107C |
probably damaging |
Het |
Cdr2l |
A |
G |
11: 115,273,192 (GRCm39) |
E15G |
probably damaging |
Het |
Chil6 |
A |
G |
3: 106,296,141 (GRCm39) |
W365R |
probably damaging |
Het |
Ckap5 |
G |
T |
2: 91,431,356 (GRCm39) |
R1525L |
probably benign |
Het |
Col6a6 |
T |
A |
9: 105,663,157 (GRCm39) |
K127* |
probably null |
Het |
Dclre1b |
A |
G |
3: 103,710,639 (GRCm39) |
V298A |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,479,837 (GRCm39) |
V2961E |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,573,483 (GRCm38) |
D126G |
probably benign |
Het |
Gpc1 |
T |
C |
1: 92,784,736 (GRCm39) |
F303S |
probably damaging |
Het |
Hsd17b4 |
T |
A |
18: 50,324,881 (GRCm39) |
V698D |
probably damaging |
Het |
Itpr2 |
C |
T |
6: 146,277,560 (GRCm39) |
|
probably null |
Het |
Klhl4 |
A |
T |
X: 113,432,091 (GRCm39) |
D168V |
probably damaging |
Het |
Krt42 |
A |
G |
11: 100,154,167 (GRCm39) |
L405P |
possibly damaging |
Het |
Lrp1 |
A |
T |
10: 127,417,634 (GRCm39) |
C85* |
probably null |
Het |
Lrp2 |
A |
G |
2: 69,312,611 (GRCm39) |
L2559P |
probably damaging |
Het |
Maob |
T |
G |
X: 16,578,808 (GRCm39) |
R448S |
possibly damaging |
Het |
Mast3 |
A |
G |
8: 71,232,227 (GRCm39) |
V1250A |
possibly damaging |
Het |
Mfsd4b5 |
C |
T |
10: 39,846,723 (GRCm39) |
V286M |
probably damaging |
Het |
Mlip |
A |
G |
9: 77,146,699 (GRCm39) |
I198T |
possibly damaging |
Het |
Mocs3 |
T |
C |
2: 168,073,297 (GRCm39) |
V248A |
probably damaging |
Het |
Nxf2 |
T |
A |
X: 133,852,861 (GRCm39) |
R367S |
probably benign |
Het |
Or10j3b |
T |
G |
1: 173,043,695 (GRCm39) |
V159G |
probably benign |
Het |
Or52z12 |
T |
C |
7: 103,233,324 (GRCm39) |
W32R |
probably damaging |
Het |
Parva |
T |
C |
7: 112,176,217 (GRCm39) |
|
probably benign |
Het |
Pot1a |
A |
T |
6: 25,750,143 (GRCm39) |
|
probably benign |
Het |
Ptpra |
T |
C |
2: 130,386,359 (GRCm39) |
I603T |
probably damaging |
Het |
Rad9a |
T |
C |
19: 4,251,336 (GRCm39) |
K33E |
probably benign |
Het |
Rimbp3 |
A |
G |
16: 17,028,958 (GRCm39) |
D794G |
probably damaging |
Het |
Septin5 |
G |
A |
16: 18,443,680 (GRCm39) |
R90C |
probably damaging |
Het |
Skint8 |
T |
A |
4: 111,794,103 (GRCm39) |
N164K |
probably damaging |
Het |
Slc30a3 |
T |
G |
5: 31,247,424 (GRCm39) |
I73L |
probably benign |
Het |
Stab2 |
A |
T |
10: 86,815,872 (GRCm39) |
|
probably benign |
Het |
Tnc |
C |
T |
4: 63,918,959 (GRCm39) |
V1155M |
probably damaging |
Het |
Ttc13 |
T |
G |
8: 125,410,024 (GRCm39) |
Q525P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,550,479 (GRCm39) |
E31601G |
probably damaging |
Het |
Unc5a |
A |
T |
13: 55,150,741 (GRCm39) |
D577V |
probably damaging |
Het |
Usp18 |
G |
A |
6: 121,238,380 (GRCm39) |
V176M |
probably benign |
Het |
Vmn1r184 |
T |
C |
7: 25,966,320 (GRCm39) |
V22A |
probably benign |
Het |
Vmn1r33 |
T |
A |
6: 66,588,865 (GRCm39) |
I230F |
probably damaging |
Het |
Vmn1r51 |
A |
G |
6: 90,106,386 (GRCm39) |
I101V |
probably benign |
Het |
Vmn2r108 |
T |
A |
17: 20,691,282 (GRCm39) |
M414L |
probably benign |
Het |
Vmn2r87 |
A |
C |
10: 130,308,429 (GRCm39) |
V603G |
probably benign |
Het |
Wt1 |
A |
G |
2: 104,963,319 (GRCm39) |
Y16C |
probably damaging |
Het |
Wwp2 |
C |
T |
8: 108,232,977 (GRCm39) |
T159I |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,344,427 (GRCm39) |
F2223L |
probably benign |
Het |
Zan |
T |
A |
5: 137,387,155 (GRCm39) |
H4966L |
unknown |
Het |
|
Other mutations in AW551984 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:AW551984
|
APN |
9 |
39,504,145 (GRCm39) |
missense |
probably benign |
0.16 |
IGL00869:AW551984
|
APN |
9 |
39,504,730 (GRCm39) |
splice site |
probably benign |
|
IGL01744:AW551984
|
APN |
9 |
39,502,568 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02102:AW551984
|
APN |
9 |
39,500,987 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02149:AW551984
|
APN |
9 |
39,504,220 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02151:AW551984
|
APN |
9 |
39,504,241 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02154:AW551984
|
APN |
9 |
39,500,398 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02158:AW551984
|
APN |
9 |
39,510,621 (GRCm39) |
missense |
probably null |
0.99 |
IGL02574:AW551984
|
APN |
9 |
39,500,382 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02754:AW551984
|
APN |
9 |
39,504,624 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02754:AW551984
|
APN |
9 |
39,507,922 (GRCm39) |
nonsense |
probably null |
|
IGL02838:AW551984
|
APN |
9 |
39,505,939 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03240:AW551984
|
APN |
9 |
39,500,418 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03328:AW551984
|
APN |
9 |
39,508,412 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03374:AW551984
|
APN |
9 |
39,511,062 (GRCm39) |
missense |
possibly damaging |
0.52 |
PIT4260001:AW551984
|
UTSW |
9 |
39,504,275 (GRCm39) |
missense |
probably benign |
0.08 |
R0141:AW551984
|
UTSW |
9 |
39,501,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R0269:AW551984
|
UTSW |
9 |
39,511,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R0365:AW551984
|
UTSW |
9 |
39,510,617 (GRCm39) |
missense |
probably benign |
0.14 |
R0453:AW551984
|
UTSW |
9 |
39,511,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R0481:AW551984
|
UTSW |
9 |
39,511,912 (GRCm39) |
missense |
probably null |
1.00 |
R1005:AW551984
|
UTSW |
9 |
39,505,029 (GRCm39) |
nonsense |
probably null |
|
R1585:AW551984
|
UTSW |
9 |
39,510,632 (GRCm39) |
nonsense |
probably null |
|
R2177:AW551984
|
UTSW |
9 |
39,511,111 (GRCm39) |
missense |
probably benign |
|
R3117:AW551984
|
UTSW |
9 |
39,504,656 (GRCm39) |
missense |
probably benign |
0.08 |
R3119:AW551984
|
UTSW |
9 |
39,504,656 (GRCm39) |
missense |
probably benign |
0.08 |
R3162:AW551984
|
UTSW |
9 |
39,504,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:AW551984
|
UTSW |
9 |
39,504,325 (GRCm39) |
missense |
probably damaging |
1.00 |
R3836:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
R3837:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
R3839:AW551984
|
UTSW |
9 |
39,509,204 (GRCm39) |
unclassified |
probably benign |
|
R4299:AW551984
|
UTSW |
9 |
39,504,275 (GRCm39) |
missense |
probably benign |
0.08 |
R4422:AW551984
|
UTSW |
9 |
39,511,373 (GRCm39) |
missense |
probably null |
0.00 |
R4713:AW551984
|
UTSW |
9 |
39,508,449 (GRCm39) |
missense |
probably benign |
0.13 |
R4905:AW551984
|
UTSW |
9 |
39,508,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R4966:AW551984
|
UTSW |
9 |
39,508,472 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5022:AW551984
|
UTSW |
9 |
39,509,261 (GRCm39) |
missense |
probably benign |
0.00 |
R5041:AW551984
|
UTSW |
9 |
39,511,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R5342:AW551984
|
UTSW |
9 |
39,505,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R5383:AW551984
|
UTSW |
9 |
39,501,994 (GRCm39) |
missense |
probably benign |
|
R5443:AW551984
|
UTSW |
9 |
39,509,325 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5532:AW551984
|
UTSW |
9 |
39,508,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R5536:AW551984
|
UTSW |
9 |
39,504,169 (GRCm39) |
missense |
probably benign |
0.04 |
R5586:AW551984
|
UTSW |
9 |
39,502,559 (GRCm39) |
missense |
probably benign |
0.01 |
R5601:AW551984
|
UTSW |
9 |
39,502,563 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5618:AW551984
|
UTSW |
9 |
39,502,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R5701:AW551984
|
UTSW |
9 |
39,504,118 (GRCm39) |
missense |
probably benign |
0.01 |
R6122:AW551984
|
UTSW |
9 |
39,505,051 (GRCm39) |
missense |
probably benign |
0.00 |
R6142:AW551984
|
UTSW |
9 |
39,508,410 (GRCm39) |
missense |
probably benign |
0.00 |
R6272:AW551984
|
UTSW |
9 |
39,509,333 (GRCm39) |
missense |
probably benign |
0.06 |
R6429:AW551984
|
UTSW |
9 |
39,511,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R6659:AW551984
|
UTSW |
9 |
39,500,395 (GRCm39) |
missense |
probably benign |
0.00 |
R6670:AW551984
|
UTSW |
9 |
39,504,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R6791:AW551984
|
UTSW |
9 |
39,511,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R7000:AW551984
|
UTSW |
9 |
39,512,085 (GRCm39) |
missense |
probably benign |
0.11 |
R7077:AW551984
|
UTSW |
9 |
39,502,723 (GRCm39) |
missense |
probably benign |
|
R7083:AW551984
|
UTSW |
9 |
39,508,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R7352:AW551984
|
UTSW |
9 |
39,504,221 (GRCm39) |
missense |
probably benign |
|
R7475:AW551984
|
UTSW |
9 |
39,509,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R7534:AW551984
|
UTSW |
9 |
39,502,777 (GRCm39) |
missense |
probably benign |
0.03 |
R7542:AW551984
|
UTSW |
9 |
39,505,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7708:AW551984
|
UTSW |
9 |
39,505,051 (GRCm39) |
missense |
probably benign |
0.00 |
R7729:AW551984
|
UTSW |
9 |
39,511,071 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7955:AW551984
|
UTSW |
9 |
39,507,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R8122:AW551984
|
UTSW |
9 |
39,510,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R8358:AW551984
|
UTSW |
9 |
39,510,651 (GRCm39) |
missense |
probably damaging |
0.99 |
R8402:AW551984
|
UTSW |
9 |
39,508,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:AW551984
|
UTSW |
9 |
39,511,005 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8810:AW551984
|
UTSW |
9 |
39,511,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R8857:AW551984
|
UTSW |
9 |
39,511,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R8871:AW551984
|
UTSW |
9 |
39,500,998 (GRCm39) |
nonsense |
probably null |
|
R9019:AW551984
|
UTSW |
9 |
39,508,973 (GRCm39) |
nonsense |
probably null |
|
Z1088:AW551984
|
UTSW |
9 |
39,501,899 (GRCm39) |
nonsense |
probably null |
|
ZE80:AW551984
|
UTSW |
9 |
39,504,963 (GRCm39) |
splice site |
probably null |
|
|
Posted On |
2013-11-05 |