Incidental Mutation 'R9119:Fcho1'
| ID |
692685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho1
|
| Ensembl Gene |
ENSMUSG00000070000 |
| Gene Name |
FCH domain only 1 |
| Synonyms |
3322402E17Rik |
| MMRRC Submission |
068922-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R9119 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72164712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 523
(G523E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000136640]
[ENSMUST00000146100]
[ENSMUST00000153800]
|
| AlphaFold |
Q8K285 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093444
AA Change: G523E
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: G523E
| 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: ENSMUST00000136640
|
| SMART Domains |
Protein: ENSMUSP00000119273
Gene: ENSMUSG00000070000
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146100
AA Change: G523E
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: G523E
| 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 benign
Transcript: ENSMUST00000153800
|
| SMART Domains |
Protein: ENSMUSP00000116135
Gene: ENSMUSG00000070000
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
C |
G |
17: 36,203,963 (GRCm39) |
S185T |
probably benign |
Het |
| Aass |
A |
T |
6: 23,094,000 (GRCm39) |
M517K |
probably benign |
Het |
| Abcc4 |
A |
G |
14: 118,868,442 (GRCm39) |
V245A |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,658,995 (GRCm39) |
V2783A |
probably damaging |
Het |
| Anxa3 |
T |
A |
5: 96,976,557 (GRCm39) |
I181N |
|
Het |
| Ap4m1 |
T |
A |
5: 138,174,303 (GRCm39) |
|
probably benign |
Het |
| C1ql1 |
T |
A |
11: 102,836,879 (GRCm39) |
K137* |
probably null |
Het |
| Camkmt |
T |
A |
17: 85,403,988 (GRCm39) |
L70Q |
probably damaging |
Het |
| Ceacam18 |
T |
C |
7: 43,288,909 (GRCm39) |
L220P |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,309,288 (GRCm39) |
A1656T |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,037,186 (GRCm39) |
N3352S |
possibly damaging |
Het |
| Fbxo40 |
C |
A |
16: 36,786,457 (GRCm39) |
R704L |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,249,319 (GRCm39) |
T600A |
possibly damaging |
Het |
| Ggh |
T |
A |
4: 20,057,955 (GRCm39) |
M172K |
probably damaging |
Het |
| Gpr137 |
G |
A |
19: 6,915,811 (GRCm39) |
T373I |
probably benign |
Het |
| Kpna2rt |
T |
C |
17: 90,217,621 (GRCm39) |
K42E |
probably damaging |
Het |
| Mtnr1a |
G |
A |
8: 45,541,003 (GRCm39) |
M321I |
probably benign |
Het |
| Nebl |
T |
G |
2: 17,405,370 (GRCm39) |
N383T |
probably damaging |
Het |
| Nob1 |
A |
G |
8: 108,142,776 (GRCm39) |
S302P |
probably damaging |
Het |
| Ofcc1 |
A |
T |
13: 40,334,016 (GRCm39) |
H358Q |
probably benign |
Het |
| Or6b3 |
G |
T |
1: 92,438,904 (GRCm39) |
T282K |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,829,107 (GRCm39) |
T1495I |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
G |
A |
2: 135,809,872 (GRCm39) |
E609K |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,932,832 (GRCm39) |
|
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,858,449 (GRCm39) |
Q1614* |
probably null |
Het |
| Psg21 |
T |
G |
7: 18,381,409 (GRCm39) |
K378T |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,555,712 (GRCm39) |
N749I |
probably benign |
Het |
| Ric8b |
T |
G |
10: 84,783,334 (GRCm39) |
V64G |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,911,292 (GRCm39) |
T1793A |
possibly damaging |
Het |
| Scgb1c1 |
A |
G |
7: 140,426,135 (GRCm39) |
H77R |
probably null |
Het |
| Sfswap |
C |
A |
5: 129,591,829 (GRCm39) |
T282N |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,642,433 (GRCm39) |
Y362F |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,131,553 (GRCm39) |
T486A |
probably benign |
Het |
| Tpm4 |
A |
G |
8: 72,892,525 (GRCm39) |
N76D |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,279,753 (GRCm39) |
L294Q |
probably damaging |
Het |
| Ttc3 |
C |
T |
16: 94,192,950 (GRCm39) |
T237I |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Ugt2a2 |
A |
G |
5: 87,610,834 (GRCm39) |
V334A |
probably damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,228 (GRCm39) |
F936I |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,643,025 (GRCm39) |
K308E |
probably damaging |
Het |
| Vmn2r19 |
C |
T |
6: 123,292,527 (GRCm39) |
P190S |
possibly damaging |
Het |
| Zbbx |
T |
C |
3: 74,985,897 (GRCm39) |
E385G |
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 |
|
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 |
|
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'- GACATCTCCATCCATTGGTGGC -3'
(R):5'- TCCTCATCTCCGGAGAATGTG -3'
Sequencing Primer
(F):5'- ATCCATTGGTGGCCACAGGATC -3'
(R):5'- CTCCGGAGAATGTGGAGGACTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation