Incidental Mutation 'R0584:Fcho1'
ID |
56558 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcho1
|
Ensembl Gene |
ENSMUSG00000070000 |
Gene Name |
FCH domain only 1 |
Synonyms |
3322402E17Rik |
MMRRC Submission |
038774-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R0584 (G1)
|
Quality Score |
198 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72168369 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 218
(Y218C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000125092]
[ENSMUST00000136640]
[ENSMUST00000146100]
[ENSMUST00000153800]
|
AlphaFold |
Q8K285 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093444
AA Change: Y218C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091151 Gene: ENSMUSG00000070000 AA Change: Y218C
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: ENSMUST00000123425
|
SMART Domains |
Protein: ENSMUSP00000123631 Gene: ENSMUSG00000070000
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
70 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125092
|
SMART Domains |
Protein: ENSMUSP00000123554 Gene: ENSMUSG00000070000
Domain | Start | End | E-Value | Type |
FCH
|
6 |
88 |
7.62e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126455
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127005
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136640
AA Change: Y218C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119273 Gene: ENSMUSG00000070000 AA Change: Y218C
Domain | Start | End | E-Value | Type |
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141323
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146100
AA Change: Y218C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117606 Gene: ENSMUSG00000070000 AA Change: Y218C
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 |
noncoding transcript
Transcript: ENSMUST00000152742
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143699
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149363
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153800
|
SMART Domains |
Protein: ENSMUSP00000116135 Gene: ENSMUSG00000070000
Domain | Start | End | E-Value | Type |
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
Meta Mutation Damage Score |
0.7303 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,847,564 (GRCm39) |
S1745P |
probably damaging |
Het |
Agfg2 |
G |
A |
5: 137,665,992 (GRCm39) |
T89I |
probably damaging |
Het |
Agtr1a |
A |
G |
13: 30,565,017 (GRCm39) |
I27M |
probably damaging |
Het |
Armh1 |
A |
T |
4: 117,087,047 (GRCm39) |
L206Q |
probably damaging |
Het |
Asxl2 |
A |
T |
12: 3,546,632 (GRCm39) |
E472V |
probably damaging |
Het |
Atp2c2 |
T |
A |
8: 120,465,157 (GRCm39) |
V313E |
probably benign |
Het |
Casp12 |
A |
G |
9: 5,352,268 (GRCm39) |
I87V |
probably null |
Het |
Ccl25 |
C |
T |
8: 4,404,085 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
T |
C |
1: 24,263,571 (GRCm39) |
|
probably benign |
Het |
Cyth4 |
A |
G |
15: 78,494,078 (GRCm39) |
|
probably null |
Het |
Dnah9 |
A |
G |
11: 65,881,315 (GRCm39) |
Y2587H |
probably damaging |
Het |
Dppa3 |
T |
C |
6: 122,606,951 (GRCm39) |
I147T |
probably benign |
Het |
Fam120b |
T |
C |
17: 15,622,384 (GRCm39) |
S121P |
probably damaging |
Het |
Fam209 |
C |
T |
2: 172,316,081 (GRCm39) |
T152M |
probably benign |
Het |
Fam98a |
A |
G |
17: 75,851,772 (GRCm39) |
L103P |
probably damaging |
Het |
Fitm1 |
T |
C |
14: 55,814,113 (GRCm39) |
V203A |
probably benign |
Het |
Gcn1 |
G |
A |
5: 115,733,074 (GRCm39) |
R1037Q |
probably damaging |
Het |
Gm11563 |
A |
G |
11: 99,549,451 (GRCm39) |
I101T |
unknown |
Het |
Gpd1l |
A |
G |
9: 114,743,412 (GRCm39) |
F163L |
probably damaging |
Het |
Grp |
C |
A |
18: 66,006,766 (GRCm39) |
A30E |
possibly damaging |
Het |
H1f7 |
C |
A |
15: 98,154,958 (GRCm39) |
E64* |
probably null |
Het |
Icosl |
T |
C |
10: 77,907,709 (GRCm39) |
Y90H |
possibly damaging |
Het |
Itsn2 |
A |
G |
12: 4,747,180 (GRCm39) |
T1194A |
probably benign |
Het |
Lrp6 |
A |
G |
6: 134,433,039 (GRCm39) |
S1431P |
probably damaging |
Het |
Ltbp1 |
T |
C |
17: 75,670,467 (GRCm39) |
S1503P |
probably damaging |
Het |
Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
Myh13 |
G |
T |
11: 67,251,200 (GRCm39) |
E1360* |
probably null |
Het |
Nop58 |
A |
G |
1: 59,745,919 (GRCm39) |
D400G |
probably benign |
Het |
Or5p79 |
T |
C |
7: 108,221,622 (GRCm39) |
L201P |
probably benign |
Het |
Or6c205 |
T |
C |
10: 129,086,817 (GRCm39) |
V138A |
probably benign |
Het |
Oscp1 |
A |
G |
4: 125,977,387 (GRCm39) |
|
probably null |
Het |
Pde9a |
A |
T |
17: 31,678,951 (GRCm39) |
Y264F |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,309,660 (GRCm39) |
K2763* |
probably null |
Het |
Prkci |
T |
A |
3: 31,079,289 (GRCm39) |
C42* |
probably null |
Het |
Ptprr |
T |
C |
10: 116,087,063 (GRCm39) |
V270A |
probably damaging |
Het |
Rsf1 |
T |
A |
7: 97,311,335 (GRCm39) |
N688K |
possibly damaging |
Het |
S1pr3 |
A |
T |
13: 51,573,697 (GRCm39) |
M293L |
probably benign |
Het |
Scn10a |
A |
C |
9: 119,499,597 (GRCm39) |
L232R |
probably damaging |
Het |
Sirt5 |
T |
A |
13: 43,548,204 (GRCm39) |
|
probably null |
Het |
Sp6 |
C |
T |
11: 96,913,091 (GRCm39) |
T268M |
probably damaging |
Het |
Spag5 |
A |
G |
11: 78,194,921 (GRCm39) |
N76S |
possibly damaging |
Het |
Tecta |
T |
C |
9: 42,259,204 (GRCm39) |
N1560D |
possibly damaging |
Het |
Togaram1 |
T |
C |
12: 65,014,279 (GRCm39) |
L510P |
probably damaging |
Het |
Umps |
A |
G |
16: 33,779,494 (GRCm39) |
I401T |
probably damaging |
Het |
Vars2 |
A |
G |
17: 35,977,578 (GRCm39) |
V118A |
possibly damaging |
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 |
IGL02021:Fcho1
|
APN |
8 |
72,173,919 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAGCATGTCCACCGTCACATTTTC -3'
(R):5'- ATGTCATCTCTGCCATTGGTCACTG -3'
Sequencing Primer
(F):5'- ACATTTTCCACATTCTGCTTAAATTC -3'
(R):5'- gccattggtcactgctttc -3'
|
Posted On |
2013-07-11 |