Incidental Mutation 'IGL02072:Fyttd1'
ID |
185852 |
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 # |
IGL02072
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
32697870-32729245 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32721031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 110
(I110V)
|
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: I228V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023489 Gene: ENSMUSG00000022800 AA Change: I228V
Domain | Start | End | E-Value | Type |
Pfam:FYTT
|
10 |
317 |
1.7e-176 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120345
AA Change: I40V
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000113541 Gene: ENSMUSG00000022800 AA Change: I40V
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 damaging
Transcript: ENSMUST00000232272
AA Change: I110V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595D18Rik |
T |
A |
12: 111,128,254 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
G |
9: 53,371,096 (GRCm39) |
S2251P |
probably benign |
Het |
C1qtnf6 |
T |
A |
15: 78,411,551 (GRCm39) |
K42* |
probably null |
Het |
Ddx20 |
A |
T |
3: 105,587,943 (GRCm39) |
V379E |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,644,986 (GRCm39) |
W1017R |
probably damaging |
Het |
Eif2s1 |
T |
A |
12: 78,926,788 (GRCm39) |
N179K |
probably benign |
Het |
Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
Fancg |
A |
C |
4: 43,007,062 (GRCm39) |
H238Q |
probably benign |
Het |
G6pd2 |
A |
T |
5: 61,966,753 (GRCm39) |
D176V |
probably damaging |
Het |
Gm5114 |
A |
G |
7: 39,060,826 (GRCm39) |
S8P |
probably benign |
Het |
Hoxa1 |
T |
A |
6: 52,133,878 (GRCm39) |
M283L |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,680,720 (GRCm39) |
L252H |
probably damaging |
Het |
Itgb2l |
A |
T |
16: 96,231,808 (GRCm39) |
D319E |
probably benign |
Het |
Kdm6a |
A |
G |
X: 18,120,528 (GRCm39) |
T737A |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,610,430 (GRCm39) |
D225E |
possibly damaging |
Het |
Lamb2 |
T |
A |
9: 108,359,107 (GRCm39) |
Y274* |
probably null |
Het |
Lratd2 |
A |
G |
15: 60,695,302 (GRCm39) |
L148P |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,458,351 (GRCm39) |
L353P |
probably damaging |
Het |
Mid2 |
T |
A |
X: 139,637,201 (GRCm39) |
H258Q |
probably damaging |
Het |
Msh3 |
A |
C |
13: 92,436,803 (GRCm39) |
N502K |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,560,770 (GRCm39) |
H769R |
probably benign |
Het |
Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
Notch3 |
G |
A |
17: 32,366,048 (GRCm39) |
Q1018* |
probably null |
Het |
Oas1e |
A |
G |
5: 120,929,846 (GRCm39) |
|
probably null |
Het |
Or4f14d |
A |
T |
2: 111,960,426 (GRCm39) |
H243Q |
probably damaging |
Het |
Or7g34 |
A |
G |
9: 19,478,245 (GRCm39) |
I145T |
probably benign |
Het |
Plekha4 |
T |
A |
7: 45,187,722 (GRCm39) |
F265I |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Slc9a3 |
T |
C |
13: 74,313,978 (GRCm39) |
I762T |
probably benign |
Het |
Spag1 |
C |
A |
15: 36,190,658 (GRCm39) |
P158Q |
probably damaging |
Het |
Spout1 |
G |
A |
2: 30,067,938 (GRCm39) |
Q26* |
probably null |
Het |
Sulf1 |
T |
C |
1: 12,918,432 (GRCm39) |
Y50H |
probably damaging |
Het |
Sytl5 |
C |
T |
X: 9,829,825 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,964,637 (GRCm39) |
E663G |
possibly damaging |
Het |
Tmc3 |
A |
G |
7: 83,265,148 (GRCm39) |
I681V |
probably benign |
Het |
Tnfsf4 |
G |
T |
1: 161,244,860 (GRCm39) |
C183F |
probably damaging |
Het |
Ubqln3 |
A |
T |
7: 103,790,506 (GRCm39) |
L528Q |
possibly damaging |
Het |
Upf3a |
A |
C |
8: 13,848,368 (GRCm39) |
Q388P |
probably damaging |
Het |
Vrk1 |
T |
C |
12: 106,009,144 (GRCm39) |
V70A |
probably benign |
Het |
|
Other mutations in Fyttd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2014-05-07 |