Incidental Mutation 'R1140:Fastkd5'
| ID |
102015 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastkd5
|
| Ensembl Gene |
ENSMUSG00000079043 |
| Gene Name |
FAST kinase domains 5 |
| Synonyms |
|
| MMRRC Submission |
039213-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R1140 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130455766-130471922 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 130458135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 152
(V152I)
|
| 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 benign
Transcript: ENSMUST00000110262
AA Change: V152I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105891
Gene: ENSMUSG00000079043
AA Change: V152I
| 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
AA Change: V152I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300
AA Change: V152I
| 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 benign
Transcript: ENSMUST00000179273
AA Change: V152I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000137385
Gene: ENSMUSG00000079043
AA Change: V152I
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
T |
A |
8: 120,876,874 (GRCm39) |
S161T |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,981,609 (GRCm39) |
D964E |
probably damaging |
Het |
| Aldh18a1 |
T |
C |
19: 40,562,729 (GRCm39) |
I215V |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,473,096 (GRCm39) |
I1656F |
possibly damaging |
Het |
| Aurka |
T |
C |
2: 172,199,149 (GRCm39) |
D285G |
probably damaging |
Het |
| Cep83 |
A |
G |
10: 94,573,752 (GRCm39) |
K214E |
probably damaging |
Het |
| Dis3l2 |
A |
T |
1: 86,749,160 (GRCm39) |
T209S |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,953,643 (GRCm39) |
M363T |
possibly damaging |
Het |
| Dsc2 |
C |
A |
18: 20,165,269 (GRCm39) |
K901N |
probably damaging |
Het |
| Fam234b |
A |
T |
6: 135,202,756 (GRCm39) |
H370L |
probably benign |
Het |
| Fanca |
A |
C |
8: 124,039,868 (GRCm39) |
|
probably null |
Het |
| Fndc1 |
T |
C |
17: 7,994,258 (GRCm39) |
R337G |
unknown |
Het |
| Fsip2 |
T |
A |
2: 82,805,378 (GRCm39) |
Y566N |
probably damaging |
Het |
| Gsc |
A |
T |
12: 104,439,361 (GRCm39) |
M5K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,733 (GRCm39) |
E1893G |
unknown |
Het |
| Myh7 |
T |
C |
14: 55,210,339 (GRCm39) |
T1789A |
probably damaging |
Het |
| Npr2 |
A |
G |
4: 43,648,353 (GRCm39) |
T884A |
possibly damaging |
Het |
| Or1e29 |
T |
A |
11: 73,667,680 (GRCm39) |
M158L |
probably benign |
Het |
| Parg |
T |
C |
14: 32,018,200 (GRCm39) |
S432P |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,111,420 (GRCm39) |
V162A |
probably benign |
Het |
| Samsn1 |
C |
T |
16: 75,685,630 (GRCm39) |
E43K |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,858,949 (GRCm39) |
V361I |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,405,739 (GRCm39) |
N2981I |
probably damaging |
Het |
| Stk32c |
C |
T |
7: 138,705,095 (GRCm39) |
R23Q |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,366,118 (GRCm39) |
S231P |
possibly damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,108,429 (GRCm39) |
V374A |
possibly damaging |
Het |
| Xxylt1 |
T |
A |
16: 30,826,666 (GRCm39) |
|
probably null |
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 |
|
IGL02879:Fastkd5
|
APN |
2 |
130,456,341 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation