Incidental Mutation 'R6025:Fcho1'
| ID |
482089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho1
|
| Ensembl Gene |
ENSMUSG00000070000 |
| Gene Name |
FCH domain only 1 |
| Synonyms |
3322402E17Rik |
| MMRRC Submission |
044197-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R6025 (G1)
|
| Quality Score |
203.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 72165217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000093444]
[ENSMUST00000125092]
[ENSMUST00000136640]
[ENSMUST00000146100]
[ENSMUST00000146100]
[ENSMUST00000153800]
|
| AlphaFold |
Q8K285 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093444
|
| SMART Domains |
Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
| 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 null
Transcript: ENSMUST00000093444
|
| SMART Domains |
Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
| 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 null
Transcript: ENSMUST00000146100
|
| SMART Domains |
Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
| 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 null
Transcript: ENSMUST00000146100
|
| SMART Domains |
Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
| 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: ENSMUST00000152742
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
GC |
G |
11: 59,101,139 (GRCm39) |
|
probably null |
Het |
| Acvr1b |
C |
A |
15: 101,092,856 (GRCm39) |
D166E |
probably benign |
Het |
| Adgra2 |
T |
C |
8: 27,604,491 (GRCm39) |
I522T |
probably damaging |
Het |
| Adgre4 |
C |
T |
17: 56,099,013 (GRCm39) |
S173L |
probably benign |
Het |
| Akap9 |
A |
T |
5: 4,082,801 (GRCm39) |
Q1975L |
probably damaging |
Het |
| Ap3d1 |
T |
A |
10: 80,546,298 (GRCm39) |
M965L |
probably benign |
Het |
| Brca2 |
CATA |
CA |
5: 150,465,040 (GRCm39) |
|
probably null |
Het |
| Chd6 |
T |
C |
2: 160,807,502 (GRCm39) |
N1904S |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,408,623 (GRCm39) |
S896R |
possibly damaging |
Het |
| Col6a3 |
T |
A |
1: 90,755,824 (GRCm39) |
D155V |
probably damaging |
Het |
| Dct |
T |
C |
14: 118,273,876 (GRCm39) |
T344A |
possibly damaging |
Het |
| Dctn1 |
T |
A |
6: 83,170,673 (GRCm39) |
|
probably null |
Het |
| Dgkz |
T |
C |
2: 91,776,255 (GRCm39) |
T3A |
possibly damaging |
Het |
| Duoxa2 |
T |
C |
2: 122,132,332 (GRCm39) |
S249P |
possibly damaging |
Het |
| Ehbp1 |
A |
T |
11: 22,189,156 (GRCm39) |
V82E |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,761,143 (GRCm39) |
D523V |
probably benign |
Het |
| Ifi213 |
T |
A |
1: 173,422,800 (GRCm39) |
N22Y |
probably damaging |
Het |
| Kcnq1 |
T |
A |
7: 142,660,170 (GRCm39) |
|
probably benign |
Het |
| Kif7 |
T |
A |
7: 79,354,388 (GRCm39) |
Q799L |
probably benign |
Het |
| Lmnb1 |
T |
A |
18: 56,862,456 (GRCm39) |
L206* |
probably null |
Het |
| Lonp2 |
G |
T |
8: 87,440,001 (GRCm39) |
G247V |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,206,306 (GRCm39) |
Y121C |
probably damaging |
Het |
| Mboat1 |
C |
A |
13: 30,408,509 (GRCm39) |
T224K |
probably benign |
Het |
| Mcm9 |
T |
C |
10: 53,492,073 (GRCm39) |
E416G |
possibly damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,093 (GRCm39) |
I322N |
probably damaging |
Het |
| Nanog |
G |
A |
6: 122,690,350 (GRCm39) |
G227R |
possibly damaging |
Het |
| Nbn |
T |
C |
4: 15,981,347 (GRCm39) |
S480P |
probably damaging |
Het |
| Nek10 |
C |
A |
14: 14,865,633 (GRCm38) |
L638M |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,268,611 (GRCm39) |
V538A |
probably damaging |
Het |
| Or1e33 |
A |
T |
11: 73,738,745 (GRCm39) |
S69T |
probably benign |
Het |
| Or2b4 |
T |
G |
17: 38,116,312 (GRCm39) |
I92S |
probably damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,416 (GRCm39) |
I63V |
probably benign |
Het |
| Or5b97 |
T |
A |
19: 12,879,034 (GRCm39) |
T37S |
probably benign |
Het |
| Phf24 |
G |
A |
4: 42,938,780 (GRCm39) |
|
probably null |
Het |
| Pigz |
T |
C |
16: 31,764,528 (GRCm39) |
S529P |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,383,144 (GRCm39) |
E321G |
probably damaging |
Het |
| Plcb3 |
G |
A |
19: 6,933,547 (GRCm39) |
T926I |
probably benign |
Het |
| Pm20d2 |
G |
A |
4: 33,181,833 (GRCm39) |
P257S |
probably damaging |
Het |
| Pon2 |
A |
G |
6: 5,289,057 (GRCm39) |
V34A |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,110,855 (GRCm39) |
F76S |
possibly damaging |
Het |
| Prpf31 |
G |
A |
7: 3,642,668 (GRCm39) |
E414K |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,902,455 (GRCm39) |
L404Q |
probably damaging |
Het |
| Slc26a11 |
C |
T |
11: 119,265,654 (GRCm39) |
A389V |
probably damaging |
Het |
| Slc2a1 |
A |
T |
4: 118,993,539 (GRCm39) |
T459S |
possibly damaging |
Het |
| Spi1 |
T |
C |
2: 90,944,685 (GRCm39) |
L135P |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,463,720 (GRCm39) |
L3844P |
possibly damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,675,772 (GRCm39) |
T616S |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,712,896 (GRCm39) |
|
probably null |
Het |
| Synm |
G |
T |
7: 67,384,686 (GRCm39) |
A550D |
possibly damaging |
Het |
| Tanc2 |
T |
C |
11: 105,787,373 (GRCm39) |
V891A |
possibly damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tlx1 |
A |
T |
19: 45,144,413 (GRCm39) |
Q45L |
probably damaging |
Het |
| Tmem104 |
C |
A |
11: 115,096,349 (GRCm39) |
Y191* |
probably null |
Het |
| Tmem17 |
A |
C |
11: 22,468,659 (GRCm39) |
*199C |
probably null |
Het |
| Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,027,256 (GRCm39) |
V538A |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,734,727 (GRCm39) |
D3250G |
possibly damaging |
Het |
| Usp4 |
A |
G |
9: 108,237,322 (GRCm39) |
H130R |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,302,665 (GRCm39) |
Q1773R |
probably benign |
Het |
| Zfp790 |
A |
G |
7: 29,528,970 (GRCm39) |
K552E |
possibly damaging |
Het |
| Zswim5 |
G |
A |
4: 116,808,106 (GRCm39) |
R230Q |
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 |
|
|
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'- AGTTGTCACCGCCAATGTCC -3'
(R):5'- AAATTCTGGATGCGCGGATG -3'
Sequencing Primer
(F):5'- AGTCGAGCCTCCATGACTC -3'
(R):5'- GAGTGGGATGTGGCCATGC -3'
|
| Posted On |
2017-06-27 |
Incidental Mutation