Incidental Mutation 'R3080:Fastkd5'
| ID |
265366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastkd5
|
| Ensembl Gene |
ENSMUSG00000079043 |
| Gene Name |
FAST kinase domains 5 |
| Synonyms |
|
| MMRRC Submission |
040570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.846)
|
| Stock # |
R3080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
130455766-130471922 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130457373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 406
(M406V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000110262
AA Change: M406V
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105891
Gene: ENSMUSG00000079043
AA Change: M406V
| 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: M406V
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114878
Gene: ENSMUSG00000027300
AA Change: M406V
| 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: M406V
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137385
Gene: ENSMUSG00000079043
AA Change: M406V
| 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: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer3 |
T |
G |
1: 34,627,503 (GRCm39) |
L581V |
probably benign |
Het |
| Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,262,252 (GRCm39) |
I75T |
probably damaging |
Het |
| Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
| Ciao2b |
G |
C |
8: 105,368,259 (GRCm39) |
R22G |
possibly damaging |
Het |
| Clca4a |
T |
A |
3: 144,669,551 (GRCm39) |
K333N |
probably damaging |
Het |
| Copa |
G |
T |
1: 171,940,716 (GRCm39) |
D710Y |
probably damaging |
Het |
| Cyp3a25 |
T |
A |
5: 145,935,341 (GRCm39) |
I92F |
probably benign |
Het |
| Dcx |
T |
A |
X: 142,706,266 (GRCm39) |
D175V |
probably damaging |
Het |
| Fam76b |
G |
A |
9: 13,744,458 (GRCm39) |
G185D |
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,761,468 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gemin2 |
G |
A |
12: 59,071,877 (GRCm39) |
C230Y |
probably damaging |
Het |
| Gm5150 |
A |
C |
3: 16,045,085 (GRCm39) |
S47A |
possibly damaging |
Het |
| H3c2 |
A |
G |
13: 23,936,481 (GRCm39) |
H40R |
possibly damaging |
Het |
| Herc3 |
A |
T |
6: 58,833,631 (GRCm39) |
|
probably null |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
| Igkv13-54-1 |
A |
G |
6: 69,594,454 (GRCm39) |
|
probably null |
Het |
| Itgad |
T |
C |
7: 127,784,959 (GRCm39) |
I288T |
possibly damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Ltbp3 |
GTA |
GTATA |
19: 5,806,916 (GRCm39) |
|
probably null |
Het |
| Map4k2 |
G |
A |
19: 6,403,218 (GRCm39) |
E774K |
probably damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
| Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
| Or14j4 |
T |
C |
17: 37,921,169 (GRCm39) |
T158A |
probably benign |
Het |
| Or6d14 |
T |
G |
6: 116,534,178 (GRCm39) |
V264G |
probably damaging |
Het |
| Pcdhb3 |
T |
G |
18: 37,434,535 (GRCm39) |
L167R |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,219 (GRCm39) |
E299V |
probably damaging |
Het |
| Shcbp1l |
A |
G |
1: 153,311,783 (GRCm39) |
E312G |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc1a2 |
T |
G |
2: 102,578,901 (GRCm39) |
L272R |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,964,758 (GRCm39) |
S152T |
probably benign |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tbr1 |
C |
T |
2: 61,637,635 (GRCm39) |
Q65* |
probably null |
Het |
| Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,205 (GRCm39) |
D287G |
probably damaging |
Het |
| Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
| Zfp35 |
T |
A |
18: 24,136,367 (GRCm39) |
I237N |
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 |
|
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 |
PCR Primer
(F):5'- TTACTTCGACAGTGTGCTACCC -3'
(R):5'- CACAGGACCTGATGCAAAGACTAG -3'
Sequencing Primer
(F):5'- CTACCCTCGGAGGCAAAGAG -3'
(R):5'- CTGATGCAAAGACTAGAATCACTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation