Incidental Mutation 'R0457:Fcho1'
ID |
41228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcho1
|
Ensembl Gene |
ENSMUSG00000070000 |
Gene Name |
FCH domain only 1 |
Synonyms |
3322402E17Rik |
MMRRC Submission |
038657-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R0457 (G1)
|
Quality Score |
141 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72165204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 418
(A418T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000125092]
[ENSMUST00000136640]
[ENSMUST00000146100]
[ENSMUST00000153800]
|
AlphaFold |
Q8K285 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000093444
AA Change: A418T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000091151 Gene: ENSMUSG00000070000 AA Change: A418T
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 benign
Transcript: ENSMUST00000146100
AA Change: A418T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000117606 Gene: ENSMUSG00000070000 AA Change: A418T
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 |
0.0765 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
A |
G |
3: 59,844,054 (GRCm39) |
I249M |
possibly damaging |
Het |
Adcy5 |
T |
C |
16: 35,094,915 (GRCm39) |
S691P |
probably benign |
Het |
Ajm1 |
G |
T |
2: 25,468,358 (GRCm39) |
R518S |
possibly damaging |
Het |
Aspscr1 |
A |
G |
11: 120,568,444 (GRCm39) |
E12G |
probably benign |
Het |
Atp2a2 |
T |
C |
5: 122,607,777 (GRCm39) |
Q244R |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,959,023 (GRCm39) |
M3818V |
probably benign |
Het |
Birc6 |
C |
T |
17: 74,969,620 (GRCm39) |
A4230V |
probably damaging |
Het |
Bub1b |
T |
C |
2: 118,440,340 (GRCm39) |
F148S |
probably damaging |
Het |
C1ra |
T |
C |
6: 124,499,712 (GRCm39) |
S633P |
probably benign |
Het |
Cacna2d1 |
A |
G |
5: 16,472,414 (GRCm39) |
T274A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,095 (GRCm39) |
W998R |
possibly damaging |
Het |
Crbn |
T |
C |
6: 106,758,018 (GRCm39) |
K404R |
probably benign |
Het |
Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 16,551,407 (GRCm39) |
|
probably null |
Het |
Defa-ps1 |
A |
T |
8: 22,185,758 (GRCm39) |
|
noncoding transcript |
Het |
Dnajc10 |
T |
A |
2: 80,175,290 (GRCm39) |
V559D |
possibly damaging |
Het |
Dock1 |
A |
T |
7: 134,739,874 (GRCm39) |
E1423D |
possibly damaging |
Het |
Dpf3 |
A |
T |
12: 83,319,179 (GRCm39) |
S44T |
probably damaging |
Het |
Dyrk3 |
A |
T |
1: 131,064,094 (GRCm39) |
V31D |
possibly damaging |
Het |
F5 |
T |
C |
1: 164,021,769 (GRCm39) |
S1415P |
probably benign |
Het |
Fam186b |
A |
C |
15: 99,169,166 (GRCm39) |
I927S |
probably benign |
Het |
Fer1l6 |
G |
A |
15: 58,509,943 (GRCm39) |
|
probably null |
Het |
Fndc7 |
G |
T |
3: 108,783,861 (GRCm39) |
S249R |
probably benign |
Het |
Ganab |
A |
G |
19: 8,884,614 (GRCm39) |
E139G |
possibly damaging |
Het |
Gbp5 |
A |
G |
3: 142,213,518 (GRCm39) |
D478G |
probably damaging |
Het |
Gm17324 |
T |
A |
9: 78,355,580 (GRCm39) |
M1K |
probably null |
Het |
Gtpbp6 |
T |
A |
5: 110,254,608 (GRCm39) |
R126S |
probably damaging |
Het |
Hapln4 |
G |
A |
8: 70,541,122 (GRCm39) |
W385* |
probably null |
Het |
Hmcn2 |
T |
A |
2: 31,305,296 (GRCm39) |
|
probably null |
Het |
Hsp90ab1 |
A |
G |
17: 45,879,914 (GRCm39) |
V534A |
probably damaging |
Het |
Kat6b |
C |
A |
14: 21,720,598 (GRCm39) |
T1650K |
probably damaging |
Het |
Kpna1 |
T |
A |
16: 35,823,275 (GRCm39) |
D42E |
probably benign |
Het |
Lrrc14b |
A |
G |
13: 74,509,279 (GRCm39) |
M376T |
probably benign |
Het |
Lrrc40 |
A |
G |
3: 157,760,201 (GRCm39) |
|
probably null |
Het |
Ltv1 |
T |
C |
10: 13,067,887 (GRCm39) |
T34A |
probably benign |
Het |
Mga |
T |
A |
2: 119,746,969 (GRCm39) |
N373K |
probably damaging |
Het |
Msh3 |
A |
T |
13: 92,357,505 (GRCm39) |
M101K |
probably damaging |
Het |
Mthfd2l |
T |
C |
5: 91,168,065 (GRCm39) |
M320T |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,838,514 (GRCm39) |
E506K |
probably benign |
Het |
Ngb |
T |
C |
12: 87,147,503 (GRCm39) |
D54G |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,699,014 (GRCm39) |
F84L |
probably benign |
Het |
Or1j18 |
A |
T |
2: 36,624,545 (GRCm39) |
I71F |
probably benign |
Het |
Or52n2b |
T |
A |
7: 104,566,180 (GRCm39) |
T108S |
probably benign |
Het |
Phf12 |
T |
A |
11: 77,908,994 (GRCm39) |
I358N |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,061,801 (GRCm39) |
F2577S |
probably damaging |
Het |
Polr1c |
T |
A |
17: 46,558,689 (GRCm39) |
Y36F |
probably benign |
Het |
Prkd1 |
A |
T |
12: 50,413,155 (GRCm39) |
M672K |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,785,539 (GRCm39) |
Y905C |
probably damaging |
Het |
Ptpn23 |
T |
A |
9: 110,215,361 (GRCm39) |
H1433L |
possibly damaging |
Het |
Rnf11 |
A |
T |
4: 109,314,149 (GRCm39) |
L80Q |
probably damaging |
Het |
Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,403,437 (GRCm39) |
C90S |
possibly damaging |
Het |
Slc4a9 |
T |
C |
18: 36,668,471 (GRCm39) |
L710P |
probably damaging |
Het |
Spire1 |
T |
A |
18: 67,685,670 (GRCm39) |
I35F |
probably damaging |
Het |
Sptbn2 |
T |
C |
19: 4,795,966 (GRCm39) |
V1715A |
possibly damaging |
Het |
St7 |
T |
C |
6: 17,819,281 (GRCm39) |
F62L |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,118,136 (GRCm39) |
G862D |
probably damaging |
Het |
Syne1 |
A |
T |
10: 4,972,041 (GRCm39) |
M8789K |
probably damaging |
Het |
Synpo2 |
A |
G |
3: 122,906,421 (GRCm39) |
L965P |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,284,167 (GRCm39) |
M772K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,608,851 (GRCm39) |
K15976* |
probably null |
Het |
Unc13a |
A |
C |
8: 72,110,645 (GRCm39) |
|
probably null |
Het |
Vcan |
T |
C |
13: 89,851,318 (GRCm39) |
E1214G |
possibly damaging |
Het |
Vmn1r29 |
T |
C |
6: 58,285,072 (GRCm39) |
V264A |
probably benign |
Het |
Vmn1r60 |
T |
A |
7: 5,548,118 (GRCm39) |
|
probably benign |
Het |
Wdr90 |
C |
T |
17: 26,079,459 (GRCm39) |
R225H |
probably benign |
Het |
Wnk1 |
G |
A |
6: 119,946,293 (GRCm39) |
T620I |
probably damaging |
Het |
Zan |
C |
T |
5: 137,405,968 (GRCm39) |
|
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,902 (GRCm39) |
C387* |
probably null |
Het |
Zfp521 |
T |
C |
18: 13,977,897 (GRCm39) |
T839A |
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 |
R0363:Fcho1
|
UTSW |
8 |
72,170,134 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TGCCTAGTTGTCACCGCCAATGTC -3'
(R):5'- GTCAAAATTCTGGATGCGCGGATG -3'
Sequencing Primer
(F):5'- ACCGCCAATGTCCGCAG -3'
(R):5'- GATGCGCGGATGAGTGG -3'
|
Posted On |
2013-05-23 |