Incidental Mutation 'IGL03328:AW551984'
ID |
416759 |
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: 0.059)
|
Stock # |
IGL03328
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
39498692-39515699 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39508412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 368
(E368G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113212
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042485]
[ENSMUST00000119722]
[ENSMUST00000130829]
[ENSMUST00000141370]
|
AlphaFold |
Q8BGF0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042485
AA Change: E368G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042582 Gene: ENSMUSG00000038112 AA Change: E368G
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
VWA
|
279 |
460 |
1.04e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119722
AA Change: E368G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113212 Gene: ENSMUSG00000038112 AA Change: E368G
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 |
probably benign
Transcript: ENSMUST00000130829
|
SMART Domains |
Protein: ENSMUSP00000117262 Gene: ENSMUSG00000038112
Domain | Start | End | E-Value | Type |
Pfam:VIT_2
|
5 |
52 |
1.4e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136814
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141370
|
SMART Domains |
Protein: ENSMUSP00000117328 Gene: ENSMUSG00000038112
Domain | Start | End | E-Value | Type |
VIT
|
1 |
131 |
1.59e-47 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
T |
11: 84,211,355 (GRCm39) |
M1556L |
probably benign |
Het |
Aicda |
T |
G |
6: 122,539,396 (GRCm39) |
D187E |
probably benign |
Het |
Arfgap3 |
A |
C |
15: 83,227,282 (GRCm39) |
F43L |
probably damaging |
Het |
Bbs4 |
T |
C |
9: 59,251,401 (GRCm39) |
E33G |
probably damaging |
Het |
Bcas1 |
T |
A |
2: 170,208,316 (GRCm39) |
K437* |
probably null |
Het |
Brwd1 |
A |
T |
16: 95,803,925 (GRCm39) |
W2082R |
probably damaging |
Het |
Card6 |
A |
T |
15: 5,134,927 (GRCm39) |
|
probably benign |
Het |
Cd200r4 |
A |
G |
16: 44,653,882 (GRCm39) |
I226M |
possibly damaging |
Het |
Cep57l1 |
T |
C |
10: 41,619,148 (GRCm39) |
E73G |
probably damaging |
Het |
Chaf1a |
T |
G |
17: 56,370,374 (GRCm39) |
F613C |
probably damaging |
Het |
Clybl |
G |
T |
14: 122,639,406 (GRCm39) |
K323N |
probably damaging |
Het |
Coa7 |
A |
G |
4: 108,195,479 (GRCm39) |
D136G |
probably damaging |
Het |
Col5a2 |
C |
A |
1: 45,415,306 (GRCm39) |
V1478L |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,921,993 (GRCm39) |
|
probably benign |
Het |
Cyp4f17 |
T |
G |
17: 32,739,600 (GRCm39) |
M174R |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,831,354 (GRCm39) |
D794V |
probably benign |
Het |
Eapp |
A |
G |
12: 54,738,878 (GRCm39) |
S87P |
probably benign |
Het |
Efnb3 |
A |
G |
11: 69,448,031 (GRCm39) |
I137T |
probably damaging |
Het |
Eif4e |
T |
A |
3: 138,259,488 (GRCm39) |
|
probably benign |
Het |
Fam83b |
T |
A |
9: 76,400,324 (GRCm39) |
I260L |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,929,619 (GRCm39) |
T4008A |
probably damaging |
Het |
Fut8 |
A |
T |
12: 77,412,003 (GRCm39) |
R118W |
probably damaging |
Het |
Glt1d1 |
A |
C |
5: 127,734,183 (GRCm39) |
D119A |
probably benign |
Het |
Gm3727 |
T |
A |
14: 7,261,685 (GRCm38) |
*206C |
probably null |
Het |
Gmip |
G |
A |
8: 70,264,261 (GRCm39) |
V174M |
possibly damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,417,983 (GRCm39) |
|
probably null |
Het |
Haao |
C |
T |
17: 84,154,078 (GRCm39) |
C23Y |
probably damaging |
Het |
Hip1 |
A |
T |
5: 135,453,728 (GRCm39) |
V400E |
probably damaging |
Het |
Keg1 |
A |
G |
19: 12,696,461 (GRCm39) |
N215S |
probably damaging |
Het |
Lss |
T |
G |
10: 76,376,785 (GRCm39) |
I334S |
probably damaging |
Het |
Lyn |
A |
C |
4: 3,745,327 (GRCm39) |
E77D |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,210 (GRCm39) |
E1426G |
probably benign |
Het |
Ncapg2 |
A |
G |
12: 116,403,677 (GRCm39) |
E863G |
possibly damaging |
Het |
Ncl |
T |
C |
1: 86,280,319 (GRCm39) |
Y496C |
probably damaging |
Het |
Nefm |
A |
T |
14: 68,358,739 (GRCm39) |
S432T |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,834,096 (GRCm39) |
Y95C |
possibly damaging |
Het |
Npc1l1 |
C |
A |
11: 6,168,643 (GRCm39) |
E913* |
probably null |
Het |
Nup205 |
T |
C |
6: 35,209,349 (GRCm39) |
L1552P |
probably damaging |
Het |
Or2t46 |
A |
G |
11: 58,472,539 (GRCm39) |
N290D |
probably damaging |
Het |
Or4c112 |
G |
T |
2: 88,854,199 (GRCm39) |
Y49* |
probably null |
Het |
Or52h7 |
T |
A |
7: 104,213,677 (GRCm39) |
V83D |
probably damaging |
Het |
Or7c70 |
C |
T |
10: 78,683,201 (GRCm39) |
E183K |
probably benign |
Het |
Osm |
A |
C |
11: 4,188,426 (GRCm39) |
I18L |
unknown |
Het |
Otoa |
T |
A |
7: 120,710,217 (GRCm39) |
S254R |
probably damaging |
Het |
Parp1 |
T |
C |
1: 180,427,155 (GRCm39) |
|
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,770,551 (GRCm39) |
I1010V |
probably benign |
Het |
Peli2 |
A |
T |
14: 48,490,032 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
T |
G |
8: 110,388,738 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,151,524 (GRCm39) |
|
probably benign |
Het |
Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
Potegl |
A |
T |
2: 23,102,817 (GRCm39) |
Y185F |
possibly damaging |
Het |
Ptpn13 |
A |
T |
5: 103,664,214 (GRCm39) |
T401S |
probably benign |
Het |
Rgs22 |
C |
T |
15: 36,043,350 (GRCm39) |
|
probably null |
Het |
Rttn |
T |
G |
18: 89,061,152 (GRCm39) |
S1107A |
probably benign |
Het |
Scn5a |
G |
T |
9: 119,366,702 (GRCm39) |
N328K |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,217,089 (GRCm39) |
A1325T |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,588,595 (GRCm39) |
E80V |
probably benign |
Het |
Stard7 |
T |
C |
2: 127,134,176 (GRCm39) |
|
probably benign |
Het |
Suco |
G |
T |
1: 161,647,990 (GRCm39) |
P1099T |
probably damaging |
Het |
Syn2 |
G |
T |
6: 115,251,221 (GRCm39) |
C459F |
probably damaging |
Het |
Tas2r117 |
A |
C |
6: 132,780,041 (GRCm39) |
I60L |
probably benign |
Het |
Tomm70a |
T |
C |
16: 56,965,150 (GRCm39) |
C445R |
probably damaging |
Het |
Tpsab1 |
T |
A |
17: 25,564,102 (GRCm39) |
D87V |
probably benign |
Het |
Trgc4 |
A |
G |
13: 19,536,416 (GRCm39) |
Y158C |
unknown |
Het |
Trpm6 |
A |
T |
19: 18,815,446 (GRCm39) |
E1177D |
possibly damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,273,499 (GRCm39) |
D771V |
probably damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,525,220 (GRCm39) |
T293S |
probably damaging |
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 |
|
IGL01411:AW551984
|
APN |
9 |
39,505,087 (GRCm39) |
missense |
possibly damaging |
0.69 |
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 |
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 |
2016-08-02 |