Incidental Mutation 'R6875:Fcho1'
ID |
536380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcho1
|
Ensembl Gene |
ENSMUSG00000070000 |
Gene Name |
FCH domain only 1 |
Synonyms |
3322402E17Rik |
MMRRC Submission |
044971-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R6875 (G1)
|
Quality Score |
177.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 72167069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000125092]
[ENSMUST00000136640]
[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 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 |
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 |
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 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 |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
T |
C |
15: 12,812,154 (GRCm39) |
H270R |
probably damaging |
Het |
Abcb1a |
T |
C |
5: 8,751,628 (GRCm39) |
I336T |
probably benign |
Het |
Adam19 |
T |
A |
11: 46,003,702 (GRCm39) |
F177I |
probably benign |
Het |
Ankrd53 |
T |
C |
6: 83,745,155 (GRCm39) |
V455A |
probably damaging |
Het |
Arrdc1 |
A |
G |
2: 24,815,677 (GRCm39) |
S415P |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,447,100 (GRCm39) |
L614P |
probably benign |
Het |
Catsper1 |
G |
T |
19: 5,393,991 (GRCm39) |
V668F |
probably damaging |
Het |
Cluh |
T |
A |
11: 74,552,744 (GRCm39) |
D596E |
probably damaging |
Het |
Cnot10 |
A |
G |
9: 114,444,175 (GRCm39) |
S407P |
probably benign |
Het |
Commd6 |
T |
C |
14: 101,871,786 (GRCm39) |
T86A |
probably damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,762,001 (GRCm39) |
|
probably null |
Het |
Eif3l |
A |
G |
15: 78,969,760 (GRCm39) |
D252G |
probably damaging |
Het |
Epha2 |
A |
T |
4: 141,055,779 (GRCm39) |
S962C |
probably damaging |
Het |
Fgf23 |
G |
T |
6: 127,050,179 (GRCm39) |
G63C |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,445,748 (GRCm39) |
Y834F |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,726,169 (GRCm39) |
L608P |
probably damaging |
Het |
Hdac5 |
T |
A |
11: 102,093,102 (GRCm39) |
E545V |
probably damaging |
Het |
Hecw2 |
A |
T |
1: 53,976,291 (GRCm39) |
M166K |
probably benign |
Het |
Ikbkb |
T |
C |
8: 23,155,909 (GRCm39) |
D586G |
probably damaging |
Het |
Il36g |
G |
C |
2: 24,078,633 (GRCm39) |
|
probably null |
Het |
Ipo13 |
A |
T |
4: 117,762,108 (GRCm39) |
I422N |
possibly damaging |
Het |
Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
Kat6a |
G |
A |
8: 23,422,377 (GRCm39) |
A896T |
probably benign |
Het |
Kif28 |
A |
G |
1: 179,563,559 (GRCm39) |
I139T |
probably damaging |
Het |
Klhl25 |
A |
G |
7: 75,516,090 (GRCm39) |
E332G |
probably damaging |
Het |
Krt8 |
C |
T |
15: 101,906,343 (GRCm39) |
A389T |
probably benign |
Het |
Msrb3 |
T |
C |
10: 120,620,011 (GRCm39) |
S175G |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Myo10 |
T |
C |
15: 25,805,745 (GRCm39) |
Y1709H |
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,950,931 (GRCm39) |
S1519P |
probably benign |
Het |
Npnt |
T |
A |
3: 132,615,671 (GRCm39) |
D124V |
probably damaging |
Het |
Nr1d1 |
A |
T |
11: 98,661,662 (GRCm39) |
|
probably null |
Het |
Ogdh |
A |
G |
11: 6,290,477 (GRCm39) |
Y365C |
probably benign |
Het |
Or4f56 |
A |
T |
2: 111,703,306 (GRCm39) |
I298N |
possibly damaging |
Het |
Phf21b |
A |
T |
15: 84,671,647 (GRCm39) |
C416S |
probably damaging |
Het |
Prpsap1 |
A |
G |
11: 116,362,264 (GRCm39) |
S373P |
probably damaging |
Het |
Qrfprl |
A |
T |
6: 65,433,320 (GRCm39) |
N380I |
probably benign |
Het |
Rab28 |
T |
C |
5: 41,860,877 (GRCm39) |
T26A |
probably damaging |
Het |
Rbbp8nl |
A |
G |
2: 179,921,019 (GRCm39) |
I455T |
probably benign |
Het |
Rnft2 |
G |
A |
5: 118,366,883 (GRCm39) |
A285V |
possibly damaging |
Het |
Rrp36 |
G |
T |
17: 46,983,297 (GRCm39) |
Q106K |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,315,710 (GRCm39) |
L1666P |
probably damaging |
Het |
Siglecf |
A |
C |
7: 43,004,624 (GRCm39) |
T318P |
probably benign |
Het |
Slc22a1 |
C |
T |
17: 12,886,192 (GRCm39) |
W147* |
probably null |
Het |
Smchd1 |
T |
C |
17: 71,660,501 (GRCm39) |
I1868V |
probably damaging |
Het |
Snx21 |
A |
G |
2: 164,633,822 (GRCm39) |
S203G |
probably damaging |
Het |
Srl |
T |
C |
16: 4,300,695 (GRCm39) |
K792R |
probably benign |
Het |
Srrt |
A |
G |
5: 137,296,935 (GRCm39) |
F100S |
probably benign |
Het |
Stard9 |
G |
T |
2: 120,527,917 (GRCm39) |
M1391I |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,082,404 (GRCm39) |
E119G |
probably damaging |
Het |
Syt11 |
G |
T |
3: 88,669,462 (GRCm39) |
S143R |
possibly damaging |
Het |
Tiparp |
T |
A |
3: 65,439,063 (GRCm39) |
H126Q |
probably benign |
Het |
Tulp2 |
C |
A |
7: 45,168,038 (GRCm39) |
T150K |
probably benign |
Het |
Ugt2b37 |
T |
A |
5: 87,390,288 (GRCm39) |
Y386F |
probably benign |
Het |
Usp31 |
C |
T |
7: 121,248,863 (GRCm39) |
W860* |
probably null |
Het |
Zfp317 |
A |
G |
9: 19,554,961 (GRCm39) |
R30G |
probably damaging |
Het |
Zfp709 |
C |
A |
8: 72,642,851 (GRCm39) |
N93K |
possibly 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 |
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'- CTGGGCCTTGAAGACCAATC -3'
(R):5'- CAGTATCATCTCTGCCTGGG -3'
Sequencing Primer
(F):5'- ATCCCACCCACCTGCTG -3'
(R):5'- TGGGTTACTCCAGAAAAACCTGTC -3'
|
Posted On |
2018-10-18 |