Incidental Mutation 'IGL03119:Fyttd1'
| ID |
409910 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fyttd1
|
| Ensembl Gene |
ENSMUSG00000022800 |
| Gene Name |
forty-two-three domain containing 1 |
| Synonyms |
3830411L18Rik, 2010005M05Rik, 4933423A17Rik, 3830421F13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
IGL03119
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32697870-32729245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32721065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 121
(V121A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023489]
[ENSMUST00000120345]
[ENSMUST00000171325]
[ENSMUST00000232272]
|
| AlphaFold |
Q91Z49 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023489
AA Change: V239A
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000023489
Gene: ENSMUSG00000022800
AA Change: V239A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYTT
|
10 |
317 |
1.7e-176 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120345
AA Change: V51A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113541
Gene: ENSMUSG00000022800
AA Change: V51A
| 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 |
noncoding transcript
Transcript: ENSMUST00000141590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171325
|
| SMART Domains |
Protein: ENSMUSP00000131446
Gene: ENSMUSG00000022800
| 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 benign
Transcript: ENSMUST00000232272
AA Change: V121A
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232300
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,764,887 (GRCm39) |
T626A |
probably benign |
Het |
| Adcy1 |
C |
T |
11: 7,059,051 (GRCm39) |
T319I |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,530,492 (GRCm39) |
S5861P |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,581,819 (GRCm39) |
C4742G |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,079,057 (GRCm39) |
D93E |
probably damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,165,892 (GRCm39) |
T121A |
probably benign |
Het |
| Atxn7 |
C |
T |
14: 14,100,734 (GRCm38) |
L807F |
probably damaging |
Het |
| Cep104 |
A |
C |
4: 154,066,181 (GRCm39) |
K126N |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,167,545 (GRCm39) |
E708G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,200,143 (GRCm39) |
Y107C |
probably damaging |
Het |
| E2f3 |
A |
G |
13: 30,169,348 (GRCm39) |
S102P |
probably benign |
Het |
| Eif3e |
A |
C |
15: 43,129,000 (GRCm39) |
S207A |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,718,198 (GRCm39) |
Y313C |
probably damaging |
Het |
| Gstk1 |
T |
C |
6: 42,226,833 (GRCm39) |
S200P |
probably damaging |
Het |
| Ifrd1 |
A |
T |
12: 40,262,333 (GRCm39) |
F244L |
probably null |
Het |
| Ints7 |
T |
C |
1: 191,342,477 (GRCm39) |
V491A |
probably damaging |
Het |
| Kcnd2 |
G |
T |
6: 21,216,508 (GRCm39) |
E71* |
probably null |
Het |
| Ltbp3 |
A |
T |
19: 5,807,471 (GRCm39) |
Q1123L |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,081,297 (GRCm39) |
T961A |
probably benign |
Het |
| Naa25 |
T |
A |
5: 121,573,041 (GRCm39) |
V720E |
probably null |
Het |
| Or52ab4 |
A |
G |
7: 102,987,929 (GRCm39) |
I223V |
probably damaging |
Het |
| Or5b121 |
T |
C |
19: 13,507,799 (GRCm39) |
I298T |
probably benign |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Peli1 |
T |
C |
11: 21,090,560 (GRCm39) |
|
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,695,458 (GRCm39) |
V209A |
probably damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,287,825 (GRCm39) |
Y31C |
probably damaging |
Het |
| Smg1 |
G |
A |
7: 117,794,336 (GRCm39) |
|
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,119,386 (GRCm39) |
M457V |
probably benign |
Het |
| Trpm6 |
G |
T |
19: 18,815,381 (GRCm39) |
E1156* |
probably null |
Het |
| Usp53 |
T |
A |
3: 122,755,064 (GRCm39) |
R130S |
possibly damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,333,852 (GRCm39) |
S193P |
probably benign |
Het |
| Xrn2 |
A |
G |
2: 146,884,792 (GRCm39) |
I626V |
probably damaging |
Het |
| Zfp574 |
G |
A |
7: 24,779,898 (GRCm39) |
A307T |
probably benign |
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 |
|
R0014:Fyttd1
|
UTSW |
16 |
32,725,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation