Incidental Mutation 'R1618:Fcho1'
ID |
174439 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcho1
|
Ensembl Gene |
ENSMUSG00000070000 |
Gene Name |
FCH domain only 1 |
Synonyms |
3322402E17Rik |
MMRRC Submission |
039655-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R1618 (G1)
|
Quality Score |
184 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72163047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 661
(S661G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000136640]
[ENSMUST00000146100]
|
AlphaFold |
Q8K285 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093444
AA Change: S661G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000091151 Gene: ENSMUSG00000070000 AA Change: S661G
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 |
noncoding transcript
Transcript: ENSMUST00000127005
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136640
|
SMART Domains |
Protein: ENSMUSP00000119273 Gene: ENSMUSG00000070000
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 damaging
Transcript: ENSMUST00000146100
AA Change: S661G
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117606 Gene: ENSMUSG00000070000 AA Change: S661G
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: ENSMUST00000149363
|
Meta Mutation Damage Score |
0.1235 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.1%
|
Validation Efficiency |
96% (79/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449E01Rik |
T |
C |
14: 105,736,380 (GRCm39) |
|
noncoding transcript |
Het |
Abca8b |
A |
T |
11: 109,840,714 (GRCm39) |
|
probably benign |
Het |
Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
Anln |
A |
G |
9: 22,262,214 (GRCm39) |
|
probably null |
Het |
Anpep |
T |
G |
7: 79,485,165 (GRCm39) |
Q607P |
probably benign |
Het |
Arl13b |
A |
C |
16: 62,633,640 (GRCm39) |
|
probably null |
Het |
Asxl3 |
T |
C |
18: 22,650,044 (GRCm39) |
S678P |
probably damaging |
Het |
Atf6b |
C |
T |
17: 34,866,702 (GRCm39) |
Q58* |
probably null |
Het |
Camsap3 |
A |
G |
8: 3,648,740 (GRCm39) |
T20A |
probably benign |
Het |
Cfap46 |
T |
A |
7: 139,232,726 (GRCm39) |
M782L |
probably benign |
Het |
Cngb3 |
T |
C |
4: 19,364,260 (GRCm39) |
S155P |
probably benign |
Het |
Coro1a |
T |
C |
7: 126,300,719 (GRCm39) |
I162V |
probably benign |
Het |
Cry1 |
T |
A |
10: 84,982,318 (GRCm39) |
I343F |
probably damaging |
Het |
Csnk1e |
A |
T |
15: 79,309,050 (GRCm39) |
M292K |
probably benign |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Cul9 |
A |
T |
17: 46,836,818 (GRCm39) |
M1069K |
probably benign |
Het |
Cyp2c67 |
C |
A |
19: 39,631,708 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
T |
C |
12: 117,979,200 (GRCm39) |
I2633V |
probably damaging |
Het |
Eif4g3 |
C |
A |
4: 137,933,369 (GRCm39) |
D1731E |
probably damaging |
Het |
Epb41l4b |
T |
C |
4: 57,032,204 (GRCm39) |
T592A |
probably benign |
Het |
Evi5 |
T |
C |
5: 107,946,984 (GRCm39) |
|
probably benign |
Het |
Exo1 |
T |
A |
1: 175,728,952 (GRCm39) |
M672K |
probably benign |
Het |
Fnip2 |
A |
G |
3: 79,415,475 (GRCm39) |
Y188H |
possibly damaging |
Het |
Foxb1 |
T |
C |
9: 69,667,293 (GRCm39) |
D79G |
probably damaging |
Het |
Fyco1 |
T |
C |
9: 123,658,346 (GRCm39) |
Y610C |
probably damaging |
Het |
Gm3095 |
T |
A |
14: 15,170,441 (GRCm39) |
Y97N |
probably damaging |
Het |
Gm3095 |
C |
A |
14: 15,170,440 (GRCm39) |
N96K |
probably damaging |
Het |
Gmfb |
A |
T |
14: 47,049,237 (GRCm39) |
L128* |
probably null |
Het |
Gprc5c |
T |
A |
11: 114,755,220 (GRCm39) |
V299D |
possibly damaging |
Het |
Hsfy2 |
C |
T |
1: 56,676,388 (GRCm39) |
V50I |
probably benign |
Het |
Hspa12b |
A |
C |
2: 130,982,849 (GRCm39) |
K236Q |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,080,221 (GRCm39) |
Y566C |
probably damaging |
Het |
Itpr3 |
A |
C |
17: 27,335,581 (GRCm39) |
|
probably null |
Het |
Kprp |
G |
A |
3: 92,732,783 (GRCm39) |
T89I |
probably damaging |
Het |
Lcmt2 |
T |
C |
2: 120,969,133 (GRCm39) |
E650G |
probably damaging |
Het |
Lrch1 |
T |
C |
14: 75,051,144 (GRCm39) |
D331G |
probably damaging |
Het |
Mroh9 |
T |
A |
1: 162,852,110 (GRCm39) |
I860F |
probably benign |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Myt1l |
A |
G |
12: 29,877,396 (GRCm39) |
D349G |
unknown |
Het |
Ndufs2 |
T |
C |
1: 171,073,690 (GRCm39) |
T31A |
probably benign |
Het |
Ndufs3 |
A |
T |
2: 90,729,016 (GRCm39) |
S157T |
probably benign |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Noct |
T |
A |
3: 51,155,251 (GRCm39) |
S6R |
probably damaging |
Het |
Npas2 |
T |
A |
1: 39,339,808 (GRCm39) |
H119Q |
probably damaging |
Het |
Oprl1 |
A |
T |
2: 181,360,646 (GRCm39) |
Y207F |
probably benign |
Het |
Or2n1e |
G |
A |
17: 38,586,557 (GRCm39) |
|
probably null |
Het |
Or4c11 |
A |
G |
2: 88,695,871 (GRCm39) |
|
probably null |
Het |
Or8k30 |
T |
G |
2: 86,339,193 (GRCm39) |
L130R |
probably damaging |
Het |
Palm3 |
G |
T |
8: 84,756,291 (GRCm39) |
S601I |
possibly damaging |
Het |
Plscr1 |
T |
A |
9: 92,148,548 (GRCm39) |
C163S |
probably damaging |
Het |
Ptprk |
A |
T |
10: 28,369,166 (GRCm39) |
M713L |
probably benign |
Het |
Rdm1 |
A |
G |
11: 101,519,217 (GRCm39) |
D72G |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,265,366 (GRCm39) |
D442G |
probably benign |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Sbno1 |
T |
C |
5: 124,542,279 (GRCm39) |
Y338C |
probably damaging |
Het |
Seh1l |
T |
G |
18: 67,921,806 (GRCm39) |
V222G |
probably damaging |
Het |
Septin12 |
T |
C |
16: 4,814,340 (GRCm39) |
K43R |
probably damaging |
Het |
Slc25a18 |
A |
C |
6: 120,763,303 (GRCm39) |
|
probably benign |
Het |
Slc33a1 |
T |
C |
3: 63,855,650 (GRCm39) |
T332A |
possibly damaging |
Het |
Slc35d3 |
A |
G |
10: 19,724,909 (GRCm39) |
S316P |
probably benign |
Het |
Spmip7 |
A |
G |
11: 11,438,641 (GRCm39) |
|
probably benign |
Het |
Srrm2 |
T |
A |
17: 24,037,906 (GRCm39) |
|
probably benign |
Het |
Srsf12 |
C |
T |
4: 33,230,974 (GRCm39) |
S156L |
probably damaging |
Het |
Syce3 |
A |
G |
15: 89,274,606 (GRCm39) |
M49T |
probably benign |
Het |
Tjp3 |
T |
C |
10: 81,112,094 (GRCm39) |
|
probably benign |
Het |
Tnks |
G |
T |
8: 35,342,430 (GRCm39) |
N373K |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,013,847 (GRCm39) |
N366S |
possibly damaging |
Het |
Trpm1 |
G |
A |
7: 63,890,283 (GRCm39) |
R962H |
probably damaging |
Het |
Trpm6 |
A |
T |
19: 18,854,995 (GRCm39) |
M1885L |
possibly damaging |
Het |
Tshz3 |
A |
G |
7: 36,471,221 (GRCm39) |
D1070G |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,546,421 (GRCm39) |
M3399T |
probably benign |
Het |
Utp15 |
G |
A |
13: 98,393,695 (GRCm39) |
T196I |
probably benign |
Het |
Vmn1r168 |
T |
C |
7: 23,240,725 (GRCm39) |
I194T |
probably benign |
Het |
Vmn2r73 |
C |
T |
7: 85,525,120 (GRCm39) |
W9* |
probably null |
Het |
Wdr17 |
T |
C |
8: 55,092,930 (GRCm39) |
Y1076C |
probably damaging |
Het |
Zan |
T |
C |
5: 137,382,092 (GRCm39) |
T5152A |
unknown |
Het |
Zbtb46 |
A |
T |
2: 181,066,042 (GRCm39) |
V36E |
possibly damaging |
Het |
Zfp558 |
T |
C |
9: 18,380,579 (GRCm39) |
I9M |
possibly damaging |
Het |
Zscan2 |
T |
A |
7: 80,525,534 (GRCm39) |
Y418* |
probably null |
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 |
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 |
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'- CAGTATCATACGCAGTACCGCGAG -3'
(R):5'- TGCAAGTATAACCAGGAGGGTCCAG -3'
Sequencing Primer
(F):5'- ccagagaggaacagccac -3'
(R):5'- GAGGGTCCAGTGCCAAG -3'
|
Posted On |
2014-04-24 |