Incidental Mutation 'R9447:Fcho1'
| ID |
714002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho1
|
| Ensembl Gene |
ENSMUSG00000070000 |
| Gene Name |
FCH domain only 1 |
| Synonyms |
3322402E17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R9447 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72169913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 70
(L70P)
|
| 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: L70P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: L70P
| 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 damaging
Transcript: ENSMUST00000125092
AA Change: L70P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123554
Gene: ENSMUSG00000070000
AA Change: L70P
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
88 |
7.62e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136640
AA Change: L70P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119273
Gene: ENSMUSG00000070000
AA Change: L70P
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146100
AA Change: L70P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: L70P
| 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 damaging
Transcript: ENSMUST00000153800
AA Change: L70P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116135
Gene: ENSMUSG00000070000
AA Change: L70P
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
A |
3: 59,651,051 (GRCm39) |
Y58N |
probably damaging |
Het |
| Ago4 |
G |
A |
4: 126,402,151 (GRCm39) |
P572S |
probably benign |
Het |
| Akr1c19 |
A |
G |
13: 4,296,838 (GRCm39) |
I295V |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,323,297 (GRCm39) |
I1007K |
probably damaging |
Het |
| Cd47 |
C |
A |
16: 49,715,822 (GRCm39) |
T196K |
|
Het |
| Cdrt4 |
T |
G |
11: 62,883,418 (GRCm39) |
L40R |
probably damaging |
Het |
| Cox16 |
A |
T |
12: 81,406,109 (GRCm39) |
C72S |
probably benign |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Daxx |
A |
T |
17: 34,132,247 (GRCm39) |
D497V |
unknown |
Het |
| Ddt |
A |
G |
10: 75,608,671 (GRCm39) |
V62A |
possibly damaging |
Het |
| Dhx57 |
A |
G |
17: 80,549,523 (GRCm39) |
V1294A |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,163,743 (GRCm39) |
T667A |
probably damaging |
Het |
| Dnase2a |
A |
C |
8: 85,635,786 (GRCm39) |
S90R |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,700,302 (GRCm39) |
V276A |
|
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Enpp6 |
A |
T |
8: 47,483,600 (GRCm39) |
R131W |
probably damaging |
Het |
| Epm2a |
C |
T |
10: 11,324,432 (GRCm39) |
H174Y |
possibly damaging |
Het |
| Fhip1b |
G |
T |
7: 105,034,155 (GRCm39) |
T492K |
probably benign |
Het |
| Fstl4 |
G |
T |
11: 53,077,166 (GRCm39) |
C641F |
probably damaging |
Het |
| Ganab |
C |
T |
19: 8,886,894 (GRCm39) |
H327Y |
probably damaging |
Het |
| Gkn1 |
A |
G |
6: 87,323,322 (GRCm39) |
Y164H |
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,074,195 (GRCm39) |
V318A |
possibly damaging |
Het |
| Hpf1 |
A |
G |
8: 61,348,618 (GRCm39) |
D111G |
probably damaging |
Het |
| Hs3st2 |
C |
T |
7: 120,992,289 (GRCm39) |
R113W |
probably damaging |
Het |
| Ighm |
A |
T |
12: 113,384,794 (GRCm39) |
L353Q |
|
Het |
| Krbox5 |
A |
G |
13: 67,981,953 (GRCm39) |
E55G |
probably damaging |
Het |
| Ksr1 |
T |
C |
11: 78,909,159 (GRCm39) |
D782G |
unknown |
Het |
| Lpin2 |
A |
G |
17: 71,539,087 (GRCm39) |
K392E |
unknown |
Het |
| Lrrc4 |
A |
G |
6: 28,830,650 (GRCm39) |
S322P |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 64,966,001 (GRCm39) |
V313A |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 76,727,904 (GRCm39) |
S9G |
probably benign |
Het |
| Morn5 |
A |
T |
2: 35,969,525 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
C |
T |
15: 4,960,823 (GRCm39) |
A795V |
probably damaging |
Het |
| Ncf4 |
G |
T |
15: 78,146,499 (GRCm39) |
A310S |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,577,381 (GRCm39) |
Y69H |
probably benign |
Het |
| Nras |
T |
C |
3: 102,967,673 (GRCm39) |
F90L |
possibly damaging |
Het |
| Nrxn3 |
T |
C |
12: 89,221,678 (GRCm39) |
F113L |
probably benign |
Het |
| Ntsr1 |
C |
T |
2: 180,180,540 (GRCm39) |
T282I |
probably benign |
Het |
| Or1e1d-ps1 |
G |
T |
11: 73,819,617 (GRCm39) |
C189F |
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,321,857 (GRCm39) |
K310* |
probably null |
Het |
| Pcca |
T |
C |
14: 122,854,290 (GRCm39) |
V194A |
probably damaging |
Het |
| Plekha5 |
A |
G |
6: 140,525,192 (GRCm39) |
Y900C |
probably damaging |
Het |
| Prss22 |
T |
C |
17: 24,212,837 (GRCm39) |
D300G |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,764,119 (GRCm39) |
Y451N |
probably damaging |
Het |
| Rnf181 |
G |
T |
6: 72,337,570 (GRCm39) |
T97K |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,084,162 (GRCm39) |
S114P |
probably benign |
Het |
| Siae |
C |
A |
9: 37,557,743 (GRCm39) |
Q517K |
probably benign |
Het |
| Smurf2 |
A |
T |
11: 106,715,548 (GRCm39) |
V653D |
probably damaging |
Het |
| Sqor |
C |
A |
2: 122,649,520 (GRCm39) |
T359K |
possibly damaging |
Het |
| Taf6 |
A |
T |
5: 138,176,970 (GRCm39) |
*637R |
probably null |
Het |
| Tas2r109 |
A |
C |
6: 132,957,270 (GRCm39) |
M220R |
probably damaging |
Het |
| Tlr2 |
T |
A |
3: 83,748,445 (GRCm39) |
|
probably null |
Het |
| Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
| Tmem8b |
T |
G |
4: 43,685,766 (GRCm39) |
L179R |
probably damaging |
Het |
| Tnfrsf10b |
T |
A |
14: 70,013,608 (GRCm39) |
H179Q |
probably damaging |
Het |
| Trip11 |
T |
A |
12: 101,850,148 (GRCm39) |
K1305N |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,582,862 (GRCm39) |
W22677L |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,190,655 (GRCm39) |
V183A |
probably damaging |
Het |
| Ubqln4 |
T |
A |
3: 88,464,124 (GRCm39) |
D208E |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,473,330 (GRCm39) |
N529I |
probably benign |
Het |
| Vmn1r125 |
A |
G |
7: 21,006,627 (GRCm39) |
N175S |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,338,950 (GRCm39) |
I397K |
probably damaging |
Het |
| Zfp821 |
G |
A |
8: 110,450,816 (GRCm39) |
V270I |
probably damaging |
Het |
| Zfp935 |
A |
G |
13: 62,602,842 (GRCm39) |
V99A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACACAAGCTCATCTGGGGTC -3'
(R):5'- GGCCAAACTCTCCAAGCTAG -3'
Sequencing Primer
(F):5'- TCATCTGGGGTCCCGGGAG -3'
(R):5'- TAGCCAGCAACGGGACC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation