Incidental Mutation 'R5284:Fastkd1'
| ID |
402916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastkd1
|
| Ensembl Gene |
ENSMUSG00000027086 |
| Gene Name |
FAST kinase domains 1 |
| Synonyms |
5330408N05Rik |
| MMRRC Submission |
042841-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5284 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
69517159-69543860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69542532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 92
(T92A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073152]
[ENSMUST00000102706]
|
| AlphaFold |
Q6DI86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073152
AA Change: T92A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000072896
Gene: ENSMUSG00000027086
AA Change: T92A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
|
Pfam:FAST_1
|
560 |
628 |
6.6e-25 |
PFAM |
|
Pfam:FAST_2
|
645 |
730 |
6.4e-26 |
PFAM |
|
RAP
|
763 |
822 |
4.38e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102706
AA Change: T92A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000099767
Gene: ENSMUSG00000027086
AA Change: T92A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
|
Pfam:FAST_1
|
530 |
600 |
2.2e-26 |
PFAM |
|
Pfam:FAST_2
|
614 |
701 |
4.4e-31 |
PFAM |
|
RAP
|
734 |
793 |
4.38e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140776
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
A |
7: 45,630,483 (GRCm39) |
Q1259L |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,327,052 (GRCm39) |
S522P |
probably damaging |
Het |
| Asic5 |
C |
T |
3: 81,915,830 (GRCm39) |
P218L |
probably damaging |
Het |
| Atad1 |
T |
C |
19: 32,664,671 (GRCm39) |
M248V |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,769,915 (GRCm39) |
D522G |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,977,810 (GRCm39) |
S1168L |
probably benign |
Het |
| Cactin |
A |
G |
10: 81,159,596 (GRCm39) |
D51G |
probably damaging |
Het |
| Camkk1 |
A |
G |
11: 72,928,381 (GRCm39) |
D261G |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,421,941 (GRCm39) |
S930P |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Crim1 |
A |
T |
17: 78,620,695 (GRCm39) |
R378S |
possibly damaging |
Het |
| Dcun1d4 |
T |
C |
5: 73,680,025 (GRCm39) |
|
probably null |
Het |
| Dhdds |
A |
G |
4: 133,707,523 (GRCm39) |
V187A |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,836,172 (GRCm39) |
E723K |
possibly damaging |
Het |
| Egfem1 |
A |
G |
3: 29,704,936 (GRCm39) |
E251G |
possibly damaging |
Het |
| Ehhadh |
T |
C |
16: 21,582,094 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
G |
5: 110,815,990 (GRCm39) |
V2724A |
probably damaging |
Het |
| Epb41l4a |
T |
A |
18: 33,931,853 (GRCm39) |
T581S |
probably damaging |
Het |
| Erg |
C |
T |
16: 95,260,102 (GRCm39) |
M1I |
probably null |
Het |
| Gabpb1 |
T |
C |
2: 126,494,277 (GRCm39) |
H116R |
possibly damaging |
Het |
| Gucy2c |
A |
G |
6: 136,740,041 (GRCm39) |
L262P |
possibly damaging |
Het |
| Ifi203 |
C |
T |
1: 173,756,274 (GRCm39) |
|
probably benign |
Het |
| Kcnk13 |
A |
C |
12: 100,027,548 (GRCm39) |
I208L |
probably benign |
Het |
| Klhl7 |
A |
G |
5: 24,364,615 (GRCm39) |
T550A |
probably benign |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,799 (GRCm39) |
C114F |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,474,234 (GRCm39) |
T1650A |
probably benign |
Het |
| Myo19 |
T |
A |
11: 84,776,098 (GRCm39) |
|
probably null |
Het |
| Nav1 |
C |
T |
1: 135,377,701 (GRCm39) |
W1656* |
probably null |
Het |
| Nup188 |
A |
T |
2: 30,220,647 (GRCm39) |
S907C |
probably damaging |
Het |
| Oplah |
A |
T |
15: 76,190,759 (GRCm39) |
H125Q |
probably benign |
Het |
| Or6d12 |
T |
A |
6: 116,493,513 (GRCm39) |
Y258* |
probably null |
Het |
| Pcnx1 |
A |
T |
12: 81,965,803 (GRCm39) |
T657S |
probably benign |
Het |
| Phf14 |
C |
A |
6: 11,997,119 (GRCm39) |
Q796K |
probably damaging |
Het |
| Plaa |
T |
C |
4: 94,457,874 (GRCm39) |
I699V |
probably benign |
Het |
| Prex2 |
C |
A |
1: 11,336,314 (GRCm39) |
S1504* |
probably null |
Het |
| Prpf18 |
G |
A |
2: 4,650,481 (GRCm39) |
Q50* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,349,692 (GRCm39) |
Y3851C |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,386,733 (GRCm39) |
D726G |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,415,485 (GRCm39) |
S487P |
probably damaging |
Het |
| Setdb1 |
G |
T |
3: 95,234,881 (GRCm39) |
R941S |
probably damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Smg8 |
G |
A |
11: 86,971,137 (GRCm39) |
S878L |
possibly damaging |
Het |
| Trpc4 |
T |
A |
3: 54,187,368 (GRCm39) |
V440E |
probably damaging |
Het |
| Tsen15 |
A |
G |
1: 152,247,624 (GRCm39) |
S123P |
probably damaging |
Het |
| Tspan12 |
G |
T |
6: 21,835,466 (GRCm39) |
A69D |
probably damaging |
Het |
| Ubiad1 |
G |
A |
4: 148,520,955 (GRCm39) |
T223M |
probably damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,741 (GRCm39) |
K90* |
probably null |
Het |
| Wdr19 |
C |
T |
5: 65,382,752 (GRCm39) |
T492I |
probably damaging |
Het |
| Zfp423 |
C |
T |
8: 88,508,305 (GRCm39) |
D659N |
possibly damaging |
Het |
|
| Other mutations in Fastkd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Fastkd1
|
APN |
2 |
69,537,893 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00702:Fastkd1
|
APN |
2 |
69,538,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00960:Fastkd1
|
APN |
2 |
69,524,997 (GRCm39) |
splice site |
probably benign |
|
|
IGL01154:Fastkd1
|
APN |
2 |
69,520,404 (GRCm39) |
splice site |
probably null |
|
|
IGL01463:Fastkd1
|
APN |
2 |
69,520,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01913:Fastkd1
|
APN |
2 |
69,538,845 (GRCm39) |
splice site |
probably benign |
|
|
IGL01977:Fastkd1
|
APN |
2 |
69,524,932 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02408:Fastkd1
|
APN |
2 |
69,532,945 (GRCm39) |
missense |
probably benign |
|
|
IGL02715:Fastkd1
|
APN |
2 |
69,542,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03411:Fastkd1
|
APN |
2 |
69,537,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4519001:Fastkd1
|
UTSW |
2 |
69,520,501 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0541:Fastkd1
|
UTSW |
2 |
69,532,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Fastkd1
|
UTSW |
2 |
69,542,727 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1170:Fastkd1
|
UTSW |
2 |
69,538,993 (GRCm39) |
splice site |
probably benign |
|
|
R1499:Fastkd1
|
UTSW |
2 |
69,538,982 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1586:Fastkd1
|
UTSW |
2 |
69,542,492 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1698:Fastkd1
|
UTSW |
2 |
69,532,813 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2172:Fastkd1
|
UTSW |
2 |
69,530,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Fastkd1
|
UTSW |
2 |
69,527,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2327:Fastkd1
|
UTSW |
2 |
69,535,872 (GRCm39) |
nonsense |
probably null |
|
|
R2897:Fastkd1
|
UTSW |
2 |
69,532,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4120:Fastkd1
|
UTSW |
2 |
69,537,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4544:Fastkd1
|
UTSW |
2 |
69,542,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Fastkd1
|
UTSW |
2 |
69,542,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Fastkd1
|
UTSW |
2 |
69,521,651 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4993:Fastkd1
|
UTSW |
2 |
69,533,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5668:Fastkd1
|
UTSW |
2 |
69,537,725 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6869:Fastkd1
|
UTSW |
2 |
69,533,104 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6870:Fastkd1
|
UTSW |
2 |
69,538,958 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7062:Fastkd1
|
UTSW |
2 |
69,534,666 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7576:Fastkd1
|
UTSW |
2 |
69,524,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Fastkd1
|
UTSW |
2 |
69,527,184 (GRCm39) |
splice site |
probably null |
|
|
R7971:Fastkd1
|
UTSW |
2 |
69,537,703 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8336:Fastkd1
|
UTSW |
2 |
69,542,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8403:Fastkd1
|
UTSW |
2 |
69,517,425 (GRCm39) |
nonsense |
probably null |
|
|
R8422:Fastkd1
|
UTSW |
2 |
69,532,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Fastkd1
|
UTSW |
2 |
69,532,715 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTAGCCATGTCTACATTCC -3'
(R):5'- ACAAACGAAGAACAAGTGTTTGACC -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- TGACCTTATTGAGACGAATACGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation