Incidental Mutation 'R0363:Fcho1'
ID |
30185 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcho1
|
Ensembl Gene |
ENSMUSG00000070000 |
Gene Name |
FCH domain only 1 |
Synonyms |
3322402E17Rik |
MMRRC Submission |
038569-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R0363 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72170134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 47
(Y47C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000125092]
[ENSMUST00000136640]
[ENSMUST00000146100]
[ENSMUST00000153800]
|
AlphaFold |
Q8K285 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093444
AA Change: Y47C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091151 Gene: ENSMUSG00000070000 AA Change: Y47C
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 damaging
Transcript: ENSMUST00000125092
AA Change: Y47C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123554 Gene: ENSMUSG00000070000 AA Change: Y47C
Domain | Start | End | E-Value | Type |
FCH
|
6 |
88 |
7.62e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126455
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136640
AA Change: Y47C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119273 Gene: ENSMUSG00000070000 AA Change: Y47C
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: Y47C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117606 Gene: ENSMUSG00000070000 AA Change: Y47C
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 damaging
Transcript: ENSMUST00000153800
AA Change: Y47C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116135 Gene: ENSMUSG00000070000 AA Change: Y47C
Domain | Start | End | E-Value | Type |
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143699
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152742
|
Meta Mutation Damage Score |
0.9593 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.5%
|
Validation Efficiency |
98% (78/80) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522H14Rik |
T |
A |
4: 109,381,520 (GRCm39) |
Q86L |
probably null |
Het |
Abhd2 |
A |
G |
7: 79,000,561 (GRCm39) |
D262G |
possibly damaging |
Het |
Abhd5 |
T |
C |
9: 122,197,211 (GRCm39) |
F133L |
possibly damaging |
Het |
Agap2 |
T |
A |
10: 126,926,834 (GRCm39) |
V957E |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,292,676 (GRCm39) |
K919R |
probably damaging |
Het |
Ap1m1 |
T |
C |
8: 73,006,738 (GRCm39) |
S245P |
probably benign |
Het |
Ap1m1 |
T |
C |
8: 73,010,568 (GRCm39) |
|
probably benign |
Het |
Apcdd1 |
A |
G |
18: 63,070,168 (GRCm39) |
Y145C |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,060,136 (GRCm39) |
N2840Y |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,981,027 (GRCm39) |
S327P |
probably damaging |
Het |
Arhgap21 |
C |
A |
2: 20,885,944 (GRCm39) |
R421L |
probably damaging |
Het |
Ccdc85a |
A |
T |
11: 28,533,400 (GRCm39) |
I48N |
probably damaging |
Het |
Chd6 |
A |
G |
2: 160,856,244 (GRCm39) |
S672P |
probably damaging |
Het |
Ciz1 |
G |
C |
2: 32,267,375 (GRCm39) |
|
probably null |
Het |
Cmbl |
G |
A |
15: 31,585,588 (GRCm39) |
|
probably null |
Het |
Cmya5 |
A |
G |
13: 93,231,377 (GRCm39) |
V1237A |
possibly damaging |
Het |
Cntnap4 |
A |
T |
8: 113,583,143 (GRCm39) |
K1074* |
probably null |
Het |
Cntnap5b |
A |
G |
1: 100,202,193 (GRCm39) |
M347V |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cuzd1 |
A |
T |
7: 130,917,991 (GRCm39) |
M203K |
probably benign |
Het |
Cyp3a16 |
T |
C |
5: 145,392,689 (GRCm39) |
|
probably benign |
Het |
Dlgap3 |
A |
G |
4: 127,129,314 (GRCm39) |
E892G |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,275,948 (GRCm39) |
S2612P |
probably damaging |
Het |
Epas1 |
T |
G |
17: 87,113,276 (GRCm39) |
|
probably benign |
Het |
Etv5 |
G |
A |
16: 22,230,458 (GRCm39) |
A192V |
probably benign |
Het |
Fa2h |
T |
A |
8: 112,075,921 (GRCm39) |
H234L |
probably damaging |
Het |
Flvcr1 |
T |
A |
1: 190,744,451 (GRCm39) |
|
probably benign |
Het |
Il1rl1 |
CTTGTTGTTGTTGTTGTTG |
CTTGTTGTTGTTGTTGTTGTTG |
1: 40,481,734 (GRCm39) |
|
probably benign |
Het |
Ino80 |
G |
A |
2: 119,213,441 (GRCm39) |
R1249C |
probably damaging |
Het |
Inpp4b |
T |
C |
8: 82,610,886 (GRCm39) |
|
probably benign |
Het |
Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,721,010 (GRCm39) |
|
probably null |
Het |
Krt4 |
G |
A |
15: 101,833,081 (GRCm39) |
R9C |
possibly damaging |
Het |
Map1a |
T |
C |
2: 121,132,525 (GRCm39) |
S876P |
probably damaging |
Het |
Mettl21e |
A |
G |
1: 44,250,190 (GRCm39) |
|
probably null |
Het |
Msh2 |
C |
T |
17: 88,024,904 (GRCm39) |
T594M |
probably benign |
Het |
Mtmr3 |
A |
G |
11: 4,437,536 (GRCm39) |
S973P |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,354,697 (GRCm39) |
M889L |
probably benign |
Het |
Ntn1 |
A |
G |
11: 68,276,369 (GRCm39) |
I193T |
probably benign |
Het |
Nudt13 |
A |
T |
14: 20,359,851 (GRCm39) |
I193F |
probably damaging |
Het |
Or2n1 |
A |
G |
17: 38,486,338 (GRCm39) |
D121G |
probably damaging |
Het |
Or3a1 |
C |
T |
11: 74,225,925 (GRCm39) |
G44D |
probably damaging |
Het |
Or4b1b |
A |
T |
2: 90,112,200 (GRCm39) |
S240T |
probably damaging |
Het |
Or5p73 |
A |
T |
7: 108,064,941 (GRCm39) |
T137S |
possibly damaging |
Het |
Otulin |
A |
G |
15: 27,606,381 (GRCm39) |
V344A |
probably damaging |
Het |
P2rx7 |
C |
T |
5: 122,795,093 (GRCm39) |
Q128* |
probably null |
Het |
Pcdhb22 |
G |
A |
18: 37,652,213 (GRCm39) |
R227H |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
Pltp |
C |
T |
2: 164,682,056 (GRCm39) |
R394H |
probably benign |
Het |
Ppip5k1 |
C |
G |
2: 121,177,836 (GRCm39) |
A324P |
probably damaging |
Het |
Pramel14 |
C |
T |
4: 143,718,221 (GRCm39) |
M407I |
probably benign |
Het |
Prdm13 |
A |
C |
4: 21,679,737 (GRCm39) |
V251G |
unknown |
Het |
Prkg1 |
T |
C |
19: 31,641,596 (GRCm39) |
E29G |
probably damaging |
Het |
Prrc2c |
A |
G |
1: 162,525,380 (GRCm39) |
S409P |
unknown |
Het |
Rp1 |
T |
A |
1: 4,417,941 (GRCm39) |
D1057V |
probably damaging |
Het |
Rttn |
G |
A |
18: 89,029,079 (GRCm39) |
C599Y |
probably damaging |
Het |
Shisa6 |
C |
T |
11: 66,416,153 (GRCm39) |
R213Q |
probably benign |
Het |
Slc3a1 |
T |
C |
17: 85,340,273 (GRCm39) |
Y232H |
probably damaging |
Het |
Slx4 |
G |
A |
16: 3,797,953 (GRCm39) |
A1477V |
probably damaging |
Het |
Ssrp1 |
T |
G |
2: 84,871,018 (GRCm39) |
I218S |
probably damaging |
Het |
St6galnac1 |
A |
C |
11: 116,659,756 (GRCm39) |
S186A |
probably benign |
Het |
Stab1 |
A |
G |
14: 30,880,965 (GRCm39) |
|
probably benign |
Het |
Sycp2 |
T |
C |
2: 177,988,204 (GRCm39) |
|
probably benign |
Het |
Syne2 |
T |
A |
12: 76,118,981 (GRCm39) |
I5867N |
probably damaging |
Het |
Taar7f |
T |
A |
10: 23,925,839 (GRCm39) |
D144E |
probably damaging |
Het |
Tlcd5 |
A |
T |
9: 43,023,048 (GRCm39) |
M84K |
probably damaging |
Het |
Tmem87b |
T |
A |
2: 128,673,153 (GRCm39) |
S196T |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,348,768 (GRCm39) |
T127A |
probably benign |
Het |
Trp73 |
A |
G |
4: 154,148,406 (GRCm39) |
I336T |
probably benign |
Het |
Ttl |
A |
G |
2: 128,917,981 (GRCm39) |
I148V |
probably damaging |
Het |
Ttll7 |
T |
C |
3: 146,649,970 (GRCm39) |
Y667H |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,119,171 (GRCm39) |
T152A |
probably damaging |
Het |
Vmn1r58 |
A |
T |
7: 5,413,636 (GRCm39) |
V198E |
probably damaging |
Het |
Vps52 |
T |
A |
17: 34,181,091 (GRCm39) |
F376L |
probably benign |
Het |
Zfp1007 |
T |
C |
5: 109,824,754 (GRCm39) |
E232G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAACACTGCCGTCATTGCTG -3'
(R):5'- CCTTTTAAATCATGCCCCAGGGGTC -3'
Sequencing Primer
(F):5'- ACTGCCGTCATTGCTGATATG -3'
(R):5'- GGCCAGTTCCTGTGTCaaag -3'
|
Posted On |
2013-04-24 |