Incidental Mutation 'R8403:Fastkd1'
| ID |
652256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastkd1
|
| Ensembl Gene |
ENSMUSG00000027086 |
| Gene Name |
FAST kinase domains 1 |
| Synonyms |
5330408N05Rik |
| MMRRC Submission |
067813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R8403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69517159-69543860 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 69517425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 818
(Y818*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073152]
[ENSMUST00000100050]
[ENSMUST00000102706]
|
| AlphaFold |
Q6DI86 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073152
AA Change: Y818*
|
| SMART Domains |
Protein: ENSMUSP00000072896
Gene: ENSMUSG00000027086
AA Change: Y818*
| 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: ENSMUST00000100050
|
| SMART Domains |
Protein: ENSMUSP00000097627
Gene: ENSMUSG00000075307
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
8.34e-27 |
SMART |
|
BACK
|
135 |
237 |
9.67e-36 |
SMART |
|
Kelch
|
346 |
398 |
6.71e-1 |
SMART |
|
Kelch
|
399 |
447 |
1.56e-5 |
SMART |
|
Kelch
|
448 |
495 |
2.43e-7 |
SMART |
|
Kelch
|
496 |
542 |
5.81e-5 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102706
AA Change: Y789*
|
| SMART Domains |
Protein: ENSMUSP00000099767
Gene: ENSMUSG00000027086
AA Change: Y789*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2b |
T |
A |
11: 62,140,141 (GRCm39) |
C72S |
probably damaging |
Het |
| Atcay |
T |
C |
10: 81,048,782 (GRCm39) |
Y183C |
probably damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,494,220 (GRCm39) |
I460N |
probably damaging |
Het |
| Bhmt1b |
C |
T |
18: 87,775,575 (GRCm39) |
S366F |
probably damaging |
Het |
| Celf4 |
T |
C |
18: 25,637,327 (GRCm39) |
S223G |
possibly damaging |
Het |
| Ces2c |
T |
A |
8: 105,574,714 (GRCm39) |
V57D |
probably damaging |
Het |
| Ces2f |
T |
C |
8: 105,674,808 (GRCm39) |
V70A |
possibly damaging |
Het |
| Cntnap1 |
C |
T |
11: 101,068,416 (GRCm39) |
P114S |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,484,483 (GRCm39) |
F666S |
probably damaging |
Het |
| Cuzd1 |
T |
A |
7: 130,913,297 (GRCm39) |
D440V |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,585,718 (GRCm39) |
E107G |
probably damaging |
Het |
| Dop1a |
G |
T |
9: 86,382,925 (GRCm39) |
R286L |
probably damaging |
Het |
| Fam135a |
G |
A |
1: 24,067,908 (GRCm39) |
T987I |
probably benign |
Het |
| Fer1l4 |
A |
C |
2: 155,894,163 (GRCm39) |
F47V |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,275,790 (GRCm39) |
*125R |
probably null |
Het |
| Herc6 |
A |
G |
6: 57,560,191 (GRCm39) |
D77G |
probably benign |
Het |
| Hmox1 |
T |
C |
8: 75,823,959 (GRCm39) |
L209P |
probably damaging |
Het |
| Kcns3 |
A |
T |
12: 11,141,654 (GRCm39) |
D348E |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,052,918 (GRCm39) |
I417N |
|
Het |
| Lmo7 |
T |
C |
14: 102,139,800 (GRCm39) |
S1028P |
probably benign |
Het |
| Lrrc37a |
C |
G |
11: 103,392,411 (GRCm39) |
E1005Q |
probably benign |
Het |
| Mis18bp1 |
A |
T |
12: 65,201,585 (GRCm39) |
I372K |
possibly damaging |
Het |
| Nr4a3 |
A |
G |
4: 48,051,348 (GRCm39) |
D34G |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,884,948 (GRCm39) |
V274D |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,068,279 (GRCm39) |
D496G |
probably benign |
Het |
| Rom1 |
A |
G |
19: 8,905,244 (GRCm39) |
V282A |
probably benign |
Het |
| Rp1l1 |
G |
A |
14: 64,266,258 (GRCm39) |
V615I |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,389,658 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,699,364 (GRCm39) |
I2959T |
possibly damaging |
Het |
| Sema4a |
T |
G |
3: 88,359,341 (GRCm39) |
K117Q |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,139,004 (GRCm39) |
M486T |
possibly damaging |
Het |
| Sntb2 |
T |
A |
8: 107,728,166 (GRCm39) |
C371* |
probably null |
Het |
| Spata31d1c |
A |
G |
13: 65,184,044 (GRCm39) |
T529A |
probably benign |
Het |
| Tchp |
G |
T |
5: 114,846,827 (GRCm39) |
R38L |
possibly damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,773,926 (GRCm39) |
V320A |
probably benign |
Het |
| Trim50 |
A |
T |
5: 135,392,646 (GRCm39) |
D187V |
probably damaging |
Het |
| Ttl |
A |
G |
2: 128,923,163 (GRCm39) |
E168G |
possibly damaging |
Het |
| Tuba1c |
T |
A |
15: 98,931,985 (GRCm39) |
I5N |
probably damaging |
Het |
| Tyr |
C |
T |
7: 87,087,175 (GRCm39) |
G446R |
probably damaging |
Het |
| Vps35 |
C |
T |
8: 86,001,487 (GRCm39) |
V444I |
probably benign |
Het |
| Vstm2b |
T |
C |
7: 40,551,899 (GRCm39) |
S76P |
probably 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 |
|
R5284:Fastkd1
|
UTSW |
2 |
69,542,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- CCAAGTCAGAATATGCGCCC -3'
(R):5'- ATGGTCATTGAAACGCTTATGTAGC -3'
Sequencing Primer
(F):5'- GGGTCCCAGATCACATTATAGATG -3'
(R):5'- TAGCCCCTCACTCACTCGGTAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation