Incidental Mutation 'R2177:Fcho1'
ID |
236945 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcho1
|
Ensembl Gene |
ENSMUSG00000070000 |
Gene Name |
FCH domain only 1 |
Synonyms |
3322402E17Rik |
MMRRC Submission |
040179-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R2177 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72164905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 459
(S459P)
|
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: S459P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000091151 Gene: ENSMUSG00000070000 AA Change: S459P
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 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 |
probably damaging
Transcript: ENSMUST00000146100
AA Change: S459P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117606 Gene: ENSMUSG00000070000 AA Change: S459P
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: ENSMUST00000143699
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149363
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152742
|
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 |
0.0961 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
A |
5: 88,120,312 (GRCm39) |
N356K |
probably damaging |
Het |
Acap2 |
C |
T |
16: 30,952,346 (GRCm39) |
|
probably null |
Het |
Adamts19 |
T |
C |
18: 59,087,626 (GRCm39) |
L552P |
possibly damaging |
Het |
Adamts2 |
T |
A |
11: 50,668,055 (GRCm39) |
M539K |
probably damaging |
Het |
Aplp1 |
A |
T |
7: 30,141,946 (GRCm39) |
C210* |
probably null |
Het |
Apoa1 |
A |
T |
9: 46,141,371 (GRCm39) |
K156* |
probably null |
Het |
AW551984 |
G |
A |
9: 39,511,111 (GRCm39) |
R159C |
probably benign |
Het |
Bok |
C |
T |
1: 93,622,787 (GRCm39) |
Q112* |
probably null |
Het |
Cemip2 |
T |
C |
19: 21,789,149 (GRCm39) |
S528P |
possibly damaging |
Het |
Cfap57 |
T |
G |
4: 118,463,885 (GRCm39) |
I323L |
probably benign |
Het |
Cfap69 |
T |
A |
5: 5,675,803 (GRCm39) |
E270D |
probably damaging |
Het |
Ch25h |
G |
T |
19: 34,452,097 (GRCm39) |
L144M |
probably damaging |
Het |
Clcn6 |
T |
A |
4: 148,099,057 (GRCm39) |
I429F |
possibly damaging |
Het |
Cpb1 |
T |
A |
3: 20,320,611 (GRCm39) |
T115S |
probably benign |
Het |
Csf1r |
T |
A |
18: 61,248,015 (GRCm39) |
|
probably benign |
Het |
Ddx6 |
A |
G |
9: 44,539,028 (GRCm39) |
T279A |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,872,367 (GRCm39) |
H452R |
probably benign |
Het |
Dscam |
T |
A |
16: 96,411,524 (GRCm39) |
D1784V |
probably damaging |
Het |
Exo1 |
T |
A |
1: 175,710,456 (GRCm39) |
|
probably null |
Het |
Fxyd4 |
C |
T |
6: 117,911,393 (GRCm39) |
A56T |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,254,109 (GRCm39) |
S599P |
probably benign |
Het |
Iqce |
T |
C |
5: 140,677,348 (GRCm39) |
|
probably benign |
Het |
Kat2a |
A |
G |
11: 100,601,648 (GRCm39) |
F256L |
probably damaging |
Het |
Klk1b1 |
G |
T |
7: 43,618,695 (GRCm39) |
R24L |
possibly damaging |
Het |
Krtap16-1 |
A |
G |
11: 99,877,275 (GRCm39) |
V43A |
probably damaging |
Het |
Maea |
C |
G |
5: 33,529,034 (GRCm39) |
Q326E |
probably benign |
Het |
Man1a2 |
A |
T |
3: 100,539,847 (GRCm39) |
I308N |
probably damaging |
Het |
Marf1 |
G |
T |
16: 13,970,471 (GRCm39) |
R83S |
probably benign |
Het |
Me3 |
A |
C |
7: 89,282,278 (GRCm39) |
T54P |
probably benign |
Het |
Mme |
A |
T |
3: 63,208,426 (GRCm39) |
I63L |
probably benign |
Het |
Mmel1 |
A |
G |
4: 154,978,560 (GRCm39) |
N664S |
probably damaging |
Het |
Mrgprb2 |
A |
G |
7: 48,202,128 (GRCm39) |
V199A |
probably benign |
Het |
Mrpl36 |
T |
A |
13: 73,479,588 (GRCm39) |
F33I |
probably benign |
Het |
Nlrp4e |
A |
T |
7: 23,054,686 (GRCm39) |
T947S |
probably benign |
Het |
Or14c45 |
G |
A |
7: 86,176,870 (GRCm39) |
V302I |
probably benign |
Het |
Or4b1d |
T |
A |
2: 89,968,808 (GRCm39) |
H225L |
possibly damaging |
Het |
Or8b55 |
A |
T |
9: 38,727,482 (GRCm39) |
I228F |
possibly damaging |
Het |
Parp4 |
A |
T |
14: 56,896,746 (GRCm39) |
R1923S |
unknown |
Het |
Pcm1 |
T |
C |
8: 41,729,002 (GRCm39) |
V658A |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,322,791 (GRCm39) |
S26G |
probably benign |
Het |
Prom1 |
A |
T |
5: 44,184,081 (GRCm39) |
H433Q |
possibly damaging |
Het |
Rab7 |
T |
C |
6: 87,982,063 (GRCm39) |
D104G |
probably damaging |
Het |
Rabgap1l |
A |
G |
1: 160,551,632 (GRCm39) |
V282A |
possibly damaging |
Het |
Rdh13 |
T |
C |
7: 4,430,666 (GRCm39) |
E264G |
possibly damaging |
Het |
Rock1 |
C |
G |
18: 10,070,263 (GRCm39) |
R1270T |
probably benign |
Het |
Sdhaf4 |
C |
T |
1: 24,035,370 (GRCm39) |
G93R |
probably damaging |
Het |
Sec24a |
T |
C |
11: 51,595,228 (GRCm39) |
T910A |
probably benign |
Het |
Sesn1 |
A |
G |
10: 41,779,778 (GRCm39) |
H345R |
possibly damaging |
Het |
Snx4 |
T |
A |
16: 33,106,428 (GRCm39) |
|
probably null |
Het |
Tchh |
A |
G |
3: 93,351,439 (GRCm39) |
E293G |
unknown |
Het |
Ulk2 |
T |
A |
11: 61,682,335 (GRCm39) |
T727S |
probably benign |
Het |
Usp53 |
T |
C |
3: 122,729,706 (GRCm39) |
E756G |
probably damaging |
Het |
Vmn2r68 |
G |
A |
7: 84,871,123 (GRCm39) |
A720V |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,645,839 (GRCm39) |
N56S |
possibly damaging |
Het |
Washc5 |
A |
T |
15: 59,235,118 (GRCm39) |
Y263* |
probably null |
Het |
Zfp119b |
A |
T |
17: 56,245,639 (GRCm39) |
C516S |
probably 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 |
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 |
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'- ATGAAGGCCTCCATCTGTGC -3'
(R):5'- CAGAAGGCCATATTGGGTGG -3'
Sequencing Primer
(F):5'- GGGTTCCAGCTTACCTGCAC -3'
(R):5'- AGGCCATATTGGGTGGGGATTTG -3'
|
Posted On |
2014-10-02 |