Incidental Mutation 'R7331:Fastkd5'
| ID |
569224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastkd5
|
| Ensembl Gene |
ENSMUSG00000079043 |
| Gene Name |
FAST kinase domains 5 |
| Synonyms |
|
| MMRRC Submission |
045424-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.797)
|
| Stock # |
R7331 (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 T
at 130457647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 314
(N314K)
|
| 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: N314K
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105891
Gene: ENSMUSG00000079043
AA Change: N314K
| 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 |
possibly damaging
Transcript: ENSMUST00000140581
AA Change: N314K
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300
AA Change: N314K
| 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: N314K
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137385
Gene: ENSMUSG00000079043
AA Change: N314K
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,331,728 (GRCm39) |
H47L |
possibly damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,748,484 (GRCm39) |
S438P |
probably damaging |
Het |
| Atg16l2 |
C |
A |
7: 100,948,255 (GRCm39) |
K96N |
probably damaging |
Het |
| Bglap2 |
A |
T |
3: 88,285,567 (GRCm39) |
M35K |
possibly damaging |
Het |
| Btbd1 |
T |
A |
7: 81,465,720 (GRCm39) |
I209L |
probably damaging |
Het |
| Cdc34 |
T |
C |
10: 79,521,146 (GRCm39) |
Y148H |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,575,394 (GRCm39) |
D157G |
probably damaging |
Het |
| Csmd2 |
A |
T |
4: 128,458,021 (GRCm39) |
|
probably null |
Het |
| Ctsj |
G |
A |
13: 61,151,645 (GRCm39) |
S90L |
probably benign |
Het |
| Cycs |
A |
G |
6: 50,542,532 (GRCm39) |
F37L |
probably benign |
Het |
| Dync2li1 |
T |
A |
17: 84,955,086 (GRCm39) |
C248* |
probably null |
Het |
| Dzank1 |
A |
T |
2: 144,332,190 (GRCm39) |
I382N |
probably benign |
Het |
| Eif4a3l2 |
G |
A |
6: 116,529,130 (GRCm39) |
V336I |
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,739,066 (GRCm39) |
I406V |
probably damaging |
Het |
| Ero1b |
A |
G |
13: 12,615,015 (GRCm39) |
E282G |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,768,797 (GRCm39) |
C300S |
probably benign |
Het |
| Fchsd1 |
T |
C |
18: 38,101,823 (GRCm39) |
I49V |
possibly damaging |
Het |
| Foxn1 |
A |
G |
11: 78,249,615 (GRCm39) |
Y637H |
probably damaging |
Het |
| Gabarap |
A |
G |
11: 69,885,298 (GRCm39) |
E101G |
possibly damaging |
Het |
| Gm7247 |
A |
G |
14: 51,601,792 (GRCm39) |
R22G |
probably damaging |
Het |
| Gm7694 |
A |
T |
1: 170,129,180 (GRCm39) |
D116E |
possibly damaging |
Het |
| Gm9508 |
A |
G |
10: 77,532,629 (GRCm39) |
C147R |
unknown |
Het |
| Gpr152 |
A |
G |
19: 4,192,608 (GRCm39) |
M50V |
probably damaging |
Het |
| Hunk |
T |
A |
16: 90,269,450 (GRCm39) |
N331K |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,162,409 (GRCm39) |
T351A |
probably benign |
Het |
| Iqub |
A |
G |
6: 24,500,393 (GRCm39) |
V287A |
possibly damaging |
Het |
| Lix1 |
A |
T |
17: 17,647,474 (GRCm39) |
T47S |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,553,622 (GRCm39) |
|
probably null |
Het |
| Nup107 |
G |
A |
10: 117,606,103 (GRCm39) |
T500I |
probably damaging |
Het |
| Phf21b |
G |
C |
15: 84,675,295 (GRCm39) |
R405G |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,241,101 (GRCm39) |
V709A |
probably damaging |
Het |
| Psme3ip1 |
T |
A |
8: 95,309,564 (GRCm39) |
K143* |
probably null |
Het |
| Rfc1 |
T |
C |
5: 65,468,387 (GRCm39) |
T109A |
probably damaging |
Het |
| Rpa1 |
A |
G |
11: 75,203,941 (GRCm39) |
V302A |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,760,517 (GRCm39) |
I1522T |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,594,010 (GRCm39) |
R2578L |
possibly damaging |
Het |
| Scgb2b18 |
C |
T |
7: 32,872,681 (GRCm39) |
W41* |
probably null |
Het |
| Sdccag8 |
C |
G |
1: 176,695,856 (GRCm39) |
Q387E |
possibly damaging |
Het |
| Slc25a17 |
G |
A |
15: 81,213,346 (GRCm39) |
T119M |
probably damaging |
Het |
| Slc45a4 |
G |
T |
15: 73,477,489 (GRCm39) |
Q16K |
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,252,245 (GRCm39) |
|
probably benign |
Het |
| Slc7a14 |
T |
C |
3: 31,311,880 (GRCm39) |
T47A |
probably benign |
Het |
| Stard6 |
A |
G |
18: 70,616,553 (GRCm39) |
R71G |
probably damaging |
Het |
| Tecr |
A |
G |
8: 84,298,564 (GRCm39) |
V321A |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,195,218 (GRCm39) |
F290L |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,753,731 (GRCm39) |
V48A |
probably benign |
Het |
| V1rd19 |
T |
A |
7: 23,703,308 (GRCm39) |
I258N |
probably damaging |
Het |
| Zar1 |
T |
A |
5: 72,737,655 (GRCm39) |
E249V |
possibly damaging |
Het |
| Zfp101 |
T |
C |
17: 33,601,559 (GRCm39) |
T66A |
possibly damaging |
Het |
| Zyx |
A |
G |
6: 42,328,593 (GRCm39) |
H230R |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- CCGCATGACAAATTCAGAGAG -3'
(R):5'- TTAACACCTCCGATCTGATCAG -3'
Sequencing Primer
(F):5'- GACAAATTCAGAGAGACTACTACTTG -3'
(R):5'- CCGATCTGATCAGTATTTTGAAAGCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation