Incidental Mutation 'IGL02879:Fastkd5'
ID |
362743 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fastkd5
|
Ensembl Gene |
ENSMUSG00000079043 |
Gene Name |
FAST kinase domains 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.846)
|
Stock # |
IGL02879
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
130455766-130471922 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 130456341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 750
(Y750H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137385
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028761]
[ENSMUST00000110262]
[ENSMUST00000140581]
[ENSMUST00000179273]
|
AlphaFold |
Q7TMV3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028761
|
SMART Domains |
Protein: ENSMUSP00000028761 Gene: ENSMUSG00000027300
Domain | Start | End | E-Value | Type |
Ubox
|
262 |
331 |
4.47e-15 |
SMART |
low complexity region
|
371 |
395 |
N/A |
INTRINSIC |
RING
|
481 |
525 |
3.14e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110262
AA Change: Y750H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105891 Gene: ENSMUSG00000079043 AA Change: Y750H
Domain | Start | End | E-Value | Type |
Pfam:FAST_1
|
475 |
544 |
6e-22 |
PFAM |
Pfam:FAST_2
|
555 |
646 |
7.2e-25 |
PFAM |
RAP
|
742 |
801 |
6.92e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140581
|
SMART Domains |
Protein: ENSMUSP00000114878 Gene: ENSMUSG00000027300
Domain | Start | End | E-Value | Type |
Pfam:FAST_1
|
474 |
546 |
2.6e-27 |
PFAM |
Pfam:FAST_2
|
553 |
598 |
2.1e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000179273
AA Change: Y750H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137385 Gene: ENSMUSG00000079043 AA Change: Y750H
Domain | Start | End | E-Value | Type |
Pfam:FAST_1
|
474 |
546 |
1.5e-26 |
PFAM |
Pfam:FAST_2
|
553 |
646 |
4.4e-29 |
PFAM |
RAP
|
742 |
801 |
6.92e-14 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
A |
G |
5: 81,659,966 (GRCm39) |
Y245C |
probably damaging |
Het |
Asb3 |
G |
A |
11: 31,051,067 (GRCm39) |
R507H |
probably damaging |
Het |
Cacna1g |
A |
C |
11: 94,300,431 (GRCm39) |
I2118S |
probably benign |
Het |
Col3a1 |
A |
T |
1: 45,380,119 (GRCm39) |
|
probably benign |
Het |
Ecscr |
T |
C |
18: 35,846,731 (GRCm39) |
N221S |
possibly damaging |
Het |
Enpp4 |
T |
C |
17: 44,412,841 (GRCm39) |
D231G |
probably benign |
Het |
Gm42688 |
A |
G |
6: 83,084,125 (GRCm39) |
Y510C |
probably damaging |
Het |
Gtse1 |
T |
C |
15: 85,753,264 (GRCm39) |
|
probably benign |
Het |
Il4ra |
A |
G |
7: 125,176,069 (GRCm39) |
E759G |
possibly damaging |
Het |
Itgb4 |
A |
G |
11: 115,885,178 (GRCm39) |
D1019G |
probably benign |
Het |
Kcnh1 |
T |
C |
1: 191,959,223 (GRCm39) |
V259A |
probably damaging |
Het |
Ksr1 |
G |
A |
11: 78,965,270 (GRCm39) |
L15F |
probably damaging |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Myh15 |
A |
T |
16: 48,993,422 (GRCm39) |
T1686S |
possibly damaging |
Het |
Neb |
A |
C |
2: 52,146,697 (GRCm39) |
L2856V |
possibly damaging |
Het |
Nkapd1 |
C |
T |
9: 50,520,671 (GRCm39) |
|
probably null |
Het |
Pcnx2 |
A |
T |
8: 126,498,796 (GRCm39) |
C1568S |
probably damaging |
Het |
Pld5 |
T |
A |
1: 175,798,157 (GRCm39) |
K352I |
probably damaging |
Het |
Prmt3 |
A |
G |
7: 49,467,811 (GRCm39) |
D339G |
probably benign |
Het |
Ptbp2 |
A |
G |
3: 119,534,054 (GRCm39) |
Y272H |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,163,873 (GRCm39) |
D847G |
probably benign |
Het |
Rin1 |
C |
T |
19: 5,101,383 (GRCm39) |
T89I |
probably damaging |
Het |
Runx1t1 |
T |
C |
4: 13,889,868 (GRCm39) |
I599T |
unknown |
Het |
Serinc3 |
A |
G |
2: 163,474,172 (GRCm39) |
|
probably benign |
Het |
Slc27a5 |
C |
T |
7: 12,728,971 (GRCm39) |
|
probably benign |
Het |
Terf2 |
C |
T |
8: 107,803,329 (GRCm39) |
S417N |
probably benign |
Het |
Tyw1 |
T |
C |
5: 130,325,612 (GRCm39) |
V500A |
probably damaging |
Het |
Upk1b |
G |
A |
16: 38,596,640 (GRCm39) |
|
probably benign |
Het |
Vmn1r81 |
C |
T |
7: 11,994,319 (GRCm39) |
M96I |
probably benign |
Het |
Vmn2r11 |
A |
T |
5: 109,201,704 (GRCm39) |
Y267N |
possibly damaging |
Het |
|
Other mutations in Fastkd5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00791:Fastkd5
|
APN |
2 |
130,458,297 (GRCm39) |
missense |
probably benign |
0.14 |
IGL01148:Fastkd5
|
APN |
2 |
130,456,605 (GRCm39) |
missense |
probably benign |
|
IGL01765:Fastkd5
|
APN |
2 |
130,457,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01806:Fastkd5
|
APN |
2 |
130,457,532 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02266:Fastkd5
|
APN |
2 |
130,457,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R0504:Fastkd5
|
UTSW |
2 |
130,457,837 (GRCm39) |
missense |
probably benign |
0.08 |
R0544:Fastkd5
|
UTSW |
2 |
130,457,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R1140:Fastkd5
|
UTSW |
2 |
130,458,135 (GRCm39) |
missense |
probably benign |
0.00 |
R1459:Fastkd5
|
UTSW |
2 |
130,456,717 (GRCm39) |
missense |
probably damaging |
0.97 |
R1770:Fastkd5
|
UTSW |
2 |
130,456,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R2519:Fastkd5
|
UTSW |
2 |
130,458,114 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2566:Fastkd5
|
UTSW |
2 |
130,458,285 (GRCm39) |
missense |
probably benign |
0.00 |
R3080:Fastkd5
|
UTSW |
2 |
130,457,373 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4496:Fastkd5
|
UTSW |
2 |
130,458,501 (GRCm39) |
missense |
probably benign |
0.01 |
R5566:Fastkd5
|
UTSW |
2 |
130,456,221 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6516:Fastkd5
|
UTSW |
2 |
130,456,221 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6993:Fastkd5
|
UTSW |
2 |
130,458,459 (GRCm39) |
missense |
probably benign |
|
R7032:Fastkd5
|
UTSW |
2 |
130,457,864 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7049:Fastkd5
|
UTSW |
2 |
130,457,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R7051:Fastkd5
|
UTSW |
2 |
130,456,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R7331:Fastkd5
|
UTSW |
2 |
130,457,647 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7348:Fastkd5
|
UTSW |
2 |
130,458,359 (GRCm39) |
missense |
probably benign |
0.00 |
R7348:Fastkd5
|
UTSW |
2 |
130,457,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R7524:Fastkd5
|
UTSW |
2 |
130,458,048 (GRCm39) |
missense |
probably benign |
0.41 |
R7603:Fastkd5
|
UTSW |
2 |
130,456,961 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7657:Fastkd5
|
UTSW |
2 |
130,458,176 (GRCm39) |
missense |
probably benign |
0.00 |
R7745:Fastkd5
|
UTSW |
2 |
130,456,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R7912:Fastkd5
|
UTSW |
2 |
130,458,557 (GRCm39) |
missense |
probably damaging |
0.97 |
R8140:Fastkd5
|
UTSW |
2 |
130,457,170 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8560:Fastkd5
|
UTSW |
2 |
130,457,865 (GRCm39) |
missense |
probably benign |
0.02 |
R8885:Fastkd5
|
UTSW |
2 |
130,457,111 (GRCm39) |
missense |
probably benign |
0.15 |
R9647:Fastkd5
|
UTSW |
2 |
130,457,729 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Fastkd5
|
UTSW |
2 |
130,458,532 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
Posted On |
2015-12-18 |