Incidental Mutation 'IGL02021:Fcho1'
ID |
183953 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fcho1
|
Ensembl Gene |
ENSMUSG00000070000 |
Gene Name |
FCH domain only 1 |
Synonyms |
3322402E17Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
IGL02021
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 72173919 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 2
(S2A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000125092]
[ENSMUST00000136640]
[ENSMUST00000146100]
[ENSMUST00000153800]
|
AlphaFold |
Q8K285 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093444
AA Change: S2A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000091151 Gene: ENSMUSG00000070000 AA Change: S2A
Domain | Start | End | E-Value | Type |
FCH
|
6 |
92 |
2.05e-21 |
SMART |
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
low complexity region
|
364 |
382 |
N/A |
INTRINSIC |
low complexity region
|
446 |
466 |
N/A |
INTRINSIC |
low complexity region
|
567 |
576 |
N/A |
INTRINSIC |
Pfam:muHD
|
610 |
872 |
4.9e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125092
AA Change: S2A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000123554 Gene: ENSMUSG00000070000 AA Change: S2A
Domain | Start | End | E-Value | Type |
FCH
|
6 |
88 |
7.62e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126455
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136640
AA Change: S2A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000119273 Gene: ENSMUSG00000070000 AA Change: S2A
Domain | Start | End | E-Value | Type |
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141323
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143699
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146100
AA Change: S2A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000117606 Gene: ENSMUSG00000070000 AA Change: S2A
Domain | Start | End | E-Value | Type |
FCH
|
6 |
92 |
2.05e-21 |
SMART |
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
low complexity region
|
364 |
382 |
N/A |
INTRINSIC |
low complexity region
|
446 |
466 |
N/A |
INTRINSIC |
low complexity region
|
567 |
576 |
N/A |
INTRINSIC |
Pfam:muHD
|
610 |
872 |
1.4e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153800
AA Change: S2A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000116135 Gene: ENSMUSG00000070000 AA Change: S2A
Domain | Start | End | E-Value | Type |
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152742
|
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 |
1110002L01Rik |
G |
A |
12: 3,457,890 (GRCm39) |
|
probably benign |
Het |
Adam10 |
C |
T |
9: 70,651,191 (GRCm39) |
T72I |
possibly damaging |
Het |
Adam26b |
T |
A |
8: 43,972,909 (GRCm39) |
M698L |
probably benign |
Het |
Ankrd27 |
A |
T |
7: 35,313,881 (GRCm39) |
H404L |
probably damaging |
Het |
Atp1a1 |
T |
C |
3: 101,501,524 (GRCm39) |
S60G |
probably benign |
Het |
Bcat1 |
T |
C |
6: 144,993,015 (GRCm39) |
|
probably benign |
Het |
Cd177 |
G |
A |
7: 24,444,631 (GRCm39) |
A650V |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,231,057 (GRCm39) |
N1344D |
probably benign |
Het |
Ctsd |
G |
T |
7: 141,939,213 (GRCm39) |
L71I |
probably damaging |
Het |
Dctn2 |
T |
C |
10: 127,110,926 (GRCm39) |
|
probably null |
Het |
Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
Dennd2b |
T |
C |
7: 109,156,579 (GRCm39) |
Y57C |
probably damaging |
Het |
Duoxa1 |
A |
G |
2: 122,135,127 (GRCm39) |
F251S |
probably benign |
Het |
Gm4861 |
T |
C |
3: 137,257,871 (GRCm39) |
|
probably null |
Het |
Gm4922 |
C |
A |
10: 18,660,225 (GRCm39) |
G166W |
probably damaging |
Het |
Hic2 |
A |
G |
16: 17,076,617 (GRCm39) |
E482G |
probably benign |
Het |
Hoxa5 |
C |
T |
6: 52,179,637 (GRCm39) |
R246K |
probably damaging |
Het |
Ipo11 |
A |
T |
13: 106,993,745 (GRCm39) |
F721I |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,128,621 (GRCm39) |
S2993C |
probably damaging |
Het |
Lonp2 |
T |
A |
8: 87,435,599 (GRCm39) |
S612T |
probably benign |
Het |
Lpar5 |
T |
G |
6: 125,058,955 (GRCm39) |
Y225* |
probably null |
Het |
Map4k3 |
A |
G |
17: 80,917,255 (GRCm39) |
Y574H |
probably damaging |
Het |
Msantd4 |
A |
G |
9: 4,385,163 (GRCm39) |
E296G |
probably damaging |
Het |
Ncs1 |
A |
G |
2: 31,174,177 (GRCm39) |
D109G |
probably damaging |
Het |
Nnt |
T |
C |
13: 119,472,783 (GRCm39) |
|
probably benign |
Het |
Nr1h5 |
T |
C |
3: 102,855,058 (GRCm39) |
|
probably benign |
Het |
Or2ag20 |
A |
T |
7: 106,464,696 (GRCm39) |
K170* |
probably null |
Het |
Or4g7 |
A |
G |
2: 111,309,825 (GRCm39) |
D232G |
probably benign |
Het |
Plk4 |
A |
G |
3: 40,765,143 (GRCm39) |
D595G |
probably damaging |
Het |
Rbm17 |
C |
A |
2: 11,600,249 (GRCm39) |
|
probably benign |
Het |
Slc24a3 |
T |
A |
2: 145,360,836 (GRCm39) |
I193N |
probably damaging |
Het |
Stat5a |
G |
T |
11: 100,774,715 (GRCm39) |
V759F |
probably damaging |
Het |
Tgfbi |
T |
A |
13: 56,779,166 (GRCm39) |
L463Q |
probably damaging |
Het |
Tigar |
G |
T |
6: 127,066,253 (GRCm39) |
A95E |
probably damaging |
Het |
Tph1 |
A |
G |
7: 46,306,421 (GRCm39) |
I180T |
possibly damaging |
Het |
Usp22 |
T |
A |
11: 61,045,325 (GRCm39) |
Y517F |
probably damaging |
Het |
Vmn2r105 |
A |
C |
17: 20,448,157 (GRCm39) |
I222M |
possibly damaging |
Het |
Wapl |
A |
G |
14: 34,444,293 (GRCm39) |
I582V |
probably benign |
Het |
Zfp217 |
A |
G |
2: 169,957,069 (GRCm39) |
V643A |
probably benign |
Het |
|
Other mutations in Fcho1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01021:Fcho1
|
APN |
8 |
72,166,167 (GRCm39) |
nonsense |
probably null |
|
IGL01291:Fcho1
|
APN |
8 |
72,165,191 (GRCm39) |
missense |
probably benign |
0.08 |
IGL01473:Fcho1
|
APN |
8 |
72,164,782 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02086:Fcho1
|
APN |
8 |
72,169,444 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02808:Fcho1
|
APN |
8 |
72,165,185 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03146:Fcho1
|
APN |
8 |
72,170,074 (GRCm39) |
splice site |
probably benign |
|
IGL03267:Fcho1
|
APN |
8 |
72,164,943 (GRCm39) |
unclassified |
probably benign |
|
cameo
|
UTSW |
8 |
72,169,507 (GRCm39) |
missense |
possibly damaging |
0.92 |
Lesser
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
Sidekick
|
UTSW |
8 |
72,168,369 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU05:Fcho1
|
UTSW |
8 |
72,165,191 (GRCm39) |
missense |
probably benign |
0.08 |
R0003:Fcho1
|
UTSW |
8 |
72,161,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Fcho1
|
UTSW |
8 |
72,162,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R0020:Fcho1
|
UTSW |
8 |
72,169,514 (GRCm39) |
missense |
probably benign |
0.11 |
R0363:Fcho1
|
UTSW |
8 |
72,170,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R0457:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R0485:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R0501:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R0502:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R0551:Fcho1
|
UTSW |
8 |
72,164,818 (GRCm39) |
missense |
probably benign |
0.06 |
R0583:Fcho1
|
UTSW |
8 |
72,168,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0584:Fcho1
|
UTSW |
8 |
72,168,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0585:Fcho1
|
UTSW |
8 |
72,168,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0612:Fcho1
|
UTSW |
8 |
72,168,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R0614:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R0647:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R0841:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R0842:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R1034:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R1036:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R1399:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R1466:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
R1618:Fcho1
|
UTSW |
8 |
72,163,047 (GRCm39) |
missense |
probably damaging |
0.98 |
R1754:Fcho1
|
UTSW |
8 |
72,163,890 (GRCm39) |
missense |
probably benign |
|
R1793:Fcho1
|
UTSW |
8 |
72,161,666 (GRCm39) |
nonsense |
probably null |
|
R2073:Fcho1
|
UTSW |
8 |
72,163,133 (GRCm39) |
missense |
probably damaging |
0.98 |
R2177:Fcho1
|
UTSW |
8 |
72,164,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R4072:Fcho1
|
UTSW |
8 |
72,163,013 (GRCm39) |
missense |
probably damaging |
0.99 |
R4074:Fcho1
|
UTSW |
8 |
72,163,013 (GRCm39) |
missense |
probably damaging |
0.99 |
R4076:Fcho1
|
UTSW |
8 |
72,163,013 (GRCm39) |
missense |
probably damaging |
0.99 |
R4606:Fcho1
|
UTSW |
8 |
72,165,124 (GRCm39) |
missense |
probably benign |
|
R4732:Fcho1
|
UTSW |
8 |
72,169,439 (GRCm39) |
missense |
probably benign |
0.00 |
R4733:Fcho1
|
UTSW |
8 |
72,169,439 (GRCm39) |
missense |
probably benign |
0.00 |
R4860:Fcho1
|
UTSW |
8 |
72,163,125 (GRCm39) |
missense |
probably benign |
0.04 |
R4860:Fcho1
|
UTSW |
8 |
72,163,125 (GRCm39) |
missense |
probably benign |
0.04 |
R5082:Fcho1
|
UTSW |
8 |
72,169,829 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5083:Fcho1
|
UTSW |
8 |
72,169,820 (GRCm39) |
missense |
probably benign |
0.00 |
R5185:Fcho1
|
UTSW |
8 |
72,167,600 (GRCm39) |
unclassified |
probably benign |
|
R6025:Fcho1
|
UTSW |
8 |
72,165,217 (GRCm39) |
splice site |
probably null |
|
R6624:Fcho1
|
UTSW |
8 |
72,162,015 (GRCm39) |
missense |
probably damaging |
0.99 |
R6875:Fcho1
|
UTSW |
8 |
72,167,069 (GRCm39) |
splice site |
probably null |
|
R7069:Fcho1
|
UTSW |
8 |
72,163,141 (GRCm39) |
splice site |
probably null |
|
R7476:Fcho1
|
UTSW |
8 |
72,166,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R7512:Fcho1
|
UTSW |
8 |
72,169,507 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7951:Fcho1
|
UTSW |
8 |
72,164,920 (GRCm39) |
missense |
probably benign |
0.00 |
R8699:Fcho1
|
UTSW |
8 |
72,162,277 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8938:Fcho1
|
UTSW |
8 |
72,169,790 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9090:Fcho1
|
UTSW |
8 |
72,163,068 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9117:Fcho1
|
UTSW |
8 |
72,164,712 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9119:Fcho1
|
UTSW |
8 |
72,164,712 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9271:Fcho1
|
UTSW |
8 |
72,163,068 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9433:Fcho1
|
UTSW |
8 |
72,169,468 (GRCm39) |
missense |
probably benign |
0.03 |
R9447:Fcho1
|
UTSW |
8 |
72,169,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |