Incidental Mutation 'R0014:Fyttd1'
| ID |
19091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fyttd1
|
| Ensembl Gene |
ENSMUSG00000022800 |
| Gene Name |
forty-two-three domain containing 1 |
| Synonyms |
3830411L18Rik, 2010005M05Rik, 4933423A17Rik, 3830421F13Rik |
| MMRRC Submission |
038309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R0014 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
32697870-32729245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32725924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 175
(R175Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023489]
[ENSMUST00000120345]
[ENSMUST00000171325]
[ENSMUST00000232272]
|
| AlphaFold |
Q91Z49 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023489
AA Change: R293Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023489
Gene: ENSMUSG00000022800
AA Change: R293Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYTT
|
10 |
317 |
1.7e-176 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120345
AA Change: R105Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113541
Gene: ENSMUSG00000022800
AA Change: R105Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYTT
|
2 |
129 |
1e-83 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137863
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171325
AA Change: R259Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131446
Gene: ENSMUSG00000022800
AA Change: R259Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYTT
|
3 |
210 |
6.8e-137 |
PFAM |
|
Pfam:FYTT
|
209 |
283 |
4.6e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232272
AA Change: R175Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232300
|
| Meta Mutation Damage Score |
0.6754 |
| Coding Region Coverage |
- 1x: 75.1%
- 3x: 61.1%
- 10x: 30.7%
- 20x: 14.1%
|
| Validation Efficiency |
90% (62/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
C |
T |
12: 21,386,645 (GRCm39) |
E445K |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,250,547 (GRCm39) |
V399A |
possibly damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,321 (GRCm39) |
T583K |
probably benign |
Het |
| Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,568,712 (GRCm39) |
C10* |
probably null |
Het |
| Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
| Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,787,178 (GRCm39) |
|
probably null |
Het |
| Dpyd |
T |
C |
3: 118,935,584 (GRCm39) |
S670P |
probably damaging |
Het |
| Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
| Exog |
T |
C |
9: 119,281,344 (GRCm39) |
I218T |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,165,603 (GRCm39) |
Y108* |
probably null |
Het |
| Fhad1 |
A |
T |
4: 141,655,719 (GRCm39) |
L795Q |
probably damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,496 (GRCm39) |
C395S |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,168 (GRCm39) |
D347G |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
| Khdrbs3 |
A |
G |
15: 68,896,684 (GRCm39) |
T115A |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
A |
C |
2: 155,279,963 (GRCm39) |
S18A |
possibly damaging |
Het |
| Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
| Nek6 |
T |
C |
2: 38,448,856 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
T |
G |
3: 94,906,208 (GRCm39) |
I612S |
probably damaging |
Het |
| Pitx2 |
T |
G |
3: 129,012,148 (GRCm39) |
S193A |
possibly damaging |
Het |
| Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
| Tut1 |
T |
A |
19: 8,939,811 (GRCm39) |
L265Q |
possibly damaging |
Het |
| Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly damaging |
Het |
|
| Other mutations in Fyttd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02072:Fyttd1
|
APN |
16 |
32,721,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03119:Fyttd1
|
APN |
16 |
32,721,065 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0014:Fyttd1
|
UTSW |
16 |
32,725,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1742:Fyttd1
|
UTSW |
16 |
32,725,923 (GRCm39) |
nonsense |
probably null |
|
|
R5018:Fyttd1
|
UTSW |
16 |
32,722,787 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5800:Fyttd1
|
UTSW |
16 |
32,711,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Fyttd1
|
UTSW |
16 |
32,719,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Fyttd1
|
UTSW |
16 |
32,704,618 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8146:Fyttd1
|
UTSW |
16 |
32,722,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8702:Fyttd1
|
UTSW |
16 |
32,704,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9626:Fyttd1
|
UTSW |
16 |
32,725,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Fyttd1
|
UTSW |
16 |
32,715,472 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Fyttd1
|
UTSW |
16 |
32,698,154 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation