Incidental Mutation 'R7603:Fastkd5'
| ID |
588103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastkd5
|
| Ensembl Gene |
ENSMUSG00000079043 |
| Gene Name |
FAST kinase domains 5 |
| Synonyms |
|
| MMRRC Submission |
045713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R7603 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130455766-130471922 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 130456961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 543
(V543A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105891
(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 |
possibly damaging
Transcript: ENSMUST00000110262
AA Change: V543A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105891
Gene: ENSMUSG00000079043
AA Change: V543A
| 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 damaging
Transcript: ENSMUST00000140581
AA Change: V543A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300
AA Change: V543A
| 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 |
possibly damaging
Transcript: ENSMUST00000179273
AA Change: V543A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137385
Gene: ENSMUSG00000079043
AA Change: V543A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,071,084 (GRCm39) |
K1536E |
possibly damaging |
Het |
| Abhd16a |
T |
A |
17: 35,320,936 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
C |
T |
3: 30,652,696 (GRCm39) |
A133T |
probably benign |
Het |
| Adcy10 |
C |
T |
1: 165,391,806 (GRCm39) |
R1329W |
probably damaging |
Het |
| Apol7b |
T |
C |
15: 77,307,656 (GRCm39) |
M280V |
possibly damaging |
Het |
| Canx |
A |
T |
11: 50,202,455 (GRCm39) |
D50E |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,338,696 (GRCm39) |
D470E |
probably damaging |
Het |
| Cyp2c23 |
C |
T |
19: 44,003,369 (GRCm39) |
D269N |
probably damaging |
Het |
| Ddah1 |
T |
C |
3: 145,464,774 (GRCm39) |
V53A |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Fggy |
G |
A |
4: 95,657,743 (GRCm39) |
G295R |
probably damaging |
Het |
| Frs2 |
T |
C |
10: 116,909,968 (GRCm39) |
T465A |
probably benign |
Het |
| Glipr1 |
A |
T |
10: 111,824,737 (GRCm39) |
N156K |
probably benign |
Het |
| Gnpnat1 |
C |
T |
14: 45,622,074 (GRCm39) |
V40I |
probably benign |
Het |
| H2-Q7 |
T |
C |
17: 35,658,939 (GRCm39) |
L130P |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,358,665 (GRCm39) |
L86* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,275,679 (GRCm39) |
L2778P |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,284,503 (GRCm39) |
I3487N |
possibly damaging |
Het |
| Htra4 |
T |
G |
8: 25,515,716 (GRCm39) |
I441L |
probably benign |
Het |
| Ints7 |
A |
T |
1: 191,328,336 (GRCm39) |
H203L |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,142,676 (GRCm39) |
T601A |
possibly damaging |
Het |
| Lin7b |
T |
C |
7: 45,017,856 (GRCm39) |
|
probably benign |
Het |
| Lmbr1l |
G |
A |
15: 98,806,572 (GRCm39) |
Q280* |
probably null |
Het |
| Lpin3 |
G |
T |
2: 160,745,674 (GRCm39) |
|
probably null |
Het |
| Map1lc3b |
A |
T |
8: 122,320,268 (GRCm39) |
H27L |
possibly damaging |
Het |
| Mfsd14a |
C |
A |
3: 116,427,532 (GRCm39) |
V369F |
probably damaging |
Het |
| Ndufa12 |
C |
T |
10: 94,056,641 (GRCm39) |
A123V |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,350,288 (GRCm39) |
F929L |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,053,679 (GRCm39) |
D279E |
probably benign |
Het |
| Or52m2 |
A |
G |
7: 102,264,145 (GRCm39) |
V17A |
probably benign |
Het |
| Parp1 |
T |
C |
1: 180,427,777 (GRCm39) |
|
probably null |
Het |
| Phc3 |
T |
C |
3: 30,961,601 (GRCm39) |
I944V |
probably damaging |
Het |
| Phf20 |
C |
T |
2: 156,144,771 (GRCm39) |
A793V |
probably benign |
Het |
| Phf21a |
A |
C |
2: 92,187,352 (GRCm39) |
R540S |
probably benign |
Het |
| Pogk |
A |
G |
1: 166,229,480 (GRCm39) |
C124R |
probably benign |
Het |
| Rif1 |
C |
T |
2: 51,966,187 (GRCm39) |
S93L |
probably damaging |
Het |
| Sanbr |
T |
C |
11: 23,516,191 (GRCm39) |
T709A |
probably benign |
Het |
| Sele |
A |
G |
1: 163,877,084 (GRCm39) |
E120G |
probably damaging |
Het |
| Slc4a1ap |
T |
C |
5: 31,703,539 (GRCm39) |
L49P |
|
Het |
| Snap47 |
T |
C |
11: 59,319,373 (GRCm39) |
D255G |
probably damaging |
Het |
| Tcstv3 |
T |
C |
13: 120,779,146 (GRCm39) |
V15A |
probably damaging |
Het |
| Tmcc1 |
A |
T |
6: 116,020,092 (GRCm39) |
Y453* |
probably null |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,901,486 (GRCm39) |
V459E |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,790 (GRCm39) |
L209Q |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,576,585 (GRCm39) |
S998P |
probably 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 |
|
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- AGAGAGTTTCTAGGAATTCAGGC -3'
(R):5'- TGTTGCCAAAATTCTGTGGTCC -3'
Sequencing Primer
(F):5'- GGAATTCAGGCTTTGATCTCATATCC -3'
(R):5'- CCAAAATTCTGTGGTCCTTTGGAAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation