Incidental Mutation 'ANU05:Fcho1'
| ID |
262492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho1
|
| Ensembl Gene |
ENSMUSG00000070000 |
| Gene Name |
FCH domain only 1 |
| Synonyms |
3322402E17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
ANU05
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72165191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 422
(L422Q)
|
| 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: L422Q
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: L422Q
| 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: L422Q
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: L422Q
| 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: ENSMUST00000149363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152742
|
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Acaca |
A |
G |
11: 84,206,678 (GRCm39) |
K1513E |
probably damaging |
Het |
| Acacb |
T |
A |
5: 114,363,931 (GRCm39) |
F1464Y |
probably benign |
Het |
| Adgrg6 |
G |
A |
10: 14,286,274 (GRCm39) |
A1114V |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,566,438 (GRCm39) |
I975T |
possibly damaging |
Het |
| Akap7 |
T |
C |
10: 25,147,451 (GRCm39) |
H93R |
probably damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,640,481 (GRCm39) |
W1213R |
probably benign |
Het |
| Ccar1 |
T |
A |
10: 62,592,428 (GRCm39) |
E708V |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,186,265 (GRCm39) |
S787P |
possibly damaging |
Het |
| Col6a3 |
G |
A |
1: 90,730,014 (GRCm39) |
T1157I |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,038,308 (GRCm39) |
Y1046C |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,772,862 (GRCm39) |
S464P |
probably benign |
Het |
| Dusp19 |
A |
G |
2: 80,454,618 (GRCm39) |
T113A |
probably benign |
Het |
| Dync1h1 |
A |
C |
12: 110,615,538 (GRCm39) |
Y2957S |
probably benign |
Het |
| Epdr1 |
T |
C |
13: 19,778,814 (GRCm39) |
Y94C |
probably damaging |
Het |
| Gca |
T |
A |
2: 62,520,787 (GRCm39) |
Y210* |
probably null |
Het |
| Gpnmb |
T |
C |
6: 49,032,615 (GRCm39) |
V513A |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,415,786 (GRCm39) |
T192A |
probably damaging |
Het |
| Isca1 |
T |
C |
13: 59,906,785 (GRCm39) |
T54A |
probably benign |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,812,100 (GRCm39) |
V715A |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,045,865 (GRCm39) |
D257N |
probably damaging |
Het |
| Lgr5 |
T |
C |
10: 115,314,439 (GRCm39) |
H166R |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,289,218 (GRCm39) |
R9G |
probably benign |
Het |
| Nmt2 |
T |
G |
2: 3,315,731 (GRCm39) |
S240R |
probably benign |
Het |
| Npas3 |
A |
G |
12: 54,114,857 (GRCm39) |
E593G |
possibly damaging |
Het |
| Or8k30 |
G |
A |
2: 86,339,513 (GRCm39) |
A237T |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,059,103 (GRCm39) |
M412T |
probably damaging |
Het |
| Psd |
A |
G |
19: 46,303,186 (GRCm39) |
V100A |
possibly damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,235,087 (GRCm39) |
T28A |
probably damaging |
Het |
| Rnpepl1 |
A |
T |
1: 92,847,468 (GRCm39) |
D685V |
probably benign |
Het |
| Rrad |
T |
C |
8: 105,357,283 (GRCm39) |
E88G |
probably benign |
Het |
| Sdk2 |
T |
A |
11: 113,733,906 (GRCm39) |
M846L |
probably benign |
Het |
| Sparcl1 |
A |
T |
5: 104,242,581 (GRCm39) |
V36E |
possibly damaging |
Het |
| Spmip5 |
A |
T |
19: 58,777,545 (GRCm39) |
H80Q |
probably damaging |
Het |
| Srrm4 |
C |
T |
5: 116,605,628 (GRCm39) |
E210K |
unknown |
Het |
| Stk25 |
A |
T |
1: 93,551,145 (GRCm39) |
|
probably null |
Het |
| Tacr3 |
A |
T |
3: 134,635,810 (GRCm39) |
Y338F |
probably damaging |
Het |
| Tap2 |
A |
T |
17: 34,428,184 (GRCm39) |
Q286L |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tubgcp5 |
C |
A |
7: 55,458,277 (GRCm39) |
A396E |
possibly damaging |
Het |
| Ube2o |
T |
C |
11: 116,430,960 (GRCm39) |
D980G |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,433 (GRCm39) |
M98V |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,935 (GRCm39) |
H236L |
probably benign |
Het |
| Zfp521 |
T |
C |
18: 13,950,303 (GRCm39) |
H1217R |
probably damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,601,779 (GRCm39) |
F110I |
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 |
|
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 |
|
R9447:Fcho1
|
UTSW |
8 |
72,169,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTAGTTGTCACCGCCAATG -3'
(R):5'- CAAAATTCTGGATGCGCGGATGAG -3'
Sequencing Primer
(F):5'- ACCGCCAATGTCCGCAG -3'
(R):5'- CGCGGATGAGTGGGATG -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation