Incidental Mutation 'R0501:Fcho1'
| ID |
47129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho1
|
| Ensembl Gene |
ENSMUSG00000070000 |
| Gene Name |
FCH domain only 1 |
| Synonyms |
3322402E17Rik |
| MMRRC Submission |
038696-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R0501 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72165204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 418
(A418T)
|
| 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: A418T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: A418T
| 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: A418T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: A418T
| 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: ENSMUST00000152742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143699
|
| 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 |
|
| Meta Mutation Damage Score |
0.0765 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,209,216 (GRCm39) |
S415P |
probably benign |
Het |
| Adam19 |
C |
T |
11: 46,013,957 (GRCm39) |
P316S |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,558,972 (GRCm39) |
D229G |
probably benign |
Het |
| Adcy10 |
C |
T |
1: 165,337,959 (GRCm39) |
P191L |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,707,269 (GRCm39) |
Y1379C |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,020,685 (GRCm39) |
L1132P |
probably damaging |
Het |
| Aoah |
A |
G |
13: 21,189,243 (GRCm39) |
T489A |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,150,958 (GRCm39) |
L1975P |
probably damaging |
Het |
| Bpifa5 |
A |
T |
2: 154,005,616 (GRCm39) |
D66V |
probably benign |
Het |
| C230029F24Rik |
T |
C |
1: 49,374,629 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1h |
A |
T |
17: 25,607,641 (GRCm39) |
V892E |
probably damaging |
Het |
| Car4 |
G |
A |
11: 84,854,268 (GRCm39) |
V72I |
probably benign |
Het |
| Cfap91 |
C |
G |
16: 38,155,997 (GRCm39) |
M75I |
probably damaging |
Het |
| Chst3 |
A |
G |
10: 60,022,049 (GRCm39) |
L266P |
probably damaging |
Het |
| Ckap2l |
G |
A |
2: 129,127,411 (GRCm39) |
R256W |
possibly damaging |
Het |
| Cntn4 |
A |
T |
6: 106,595,296 (GRCm39) |
D471V |
probably damaging |
Het |
| Cntrob |
G |
A |
11: 69,213,694 (GRCm39) |
S32F |
probably damaging |
Het |
| Cpne7 |
T |
A |
8: 123,852,994 (GRCm39) |
N200K |
possibly damaging |
Het |
| Creb3l3 |
C |
A |
10: 80,922,416 (GRCm39) |
M271I |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 17,077,339 (GRCm39) |
Q106L |
probably damaging |
Het |
| D7Ertd443e |
G |
A |
7: 133,896,701 (GRCm39) |
T563I |
probably damaging |
Het |
| Dmac1 |
T |
G |
4: 75,196,413 (GRCm39) |
N26H |
unknown |
Het |
| Dop1b |
T |
C |
16: 93,549,750 (GRCm39) |
F230L |
probably benign |
Het |
| Dpp6 |
T |
A |
5: 27,930,604 (GRCm39) |
I812N |
probably damaging |
Het |
| Fabp12 |
T |
C |
3: 10,315,203 (GRCm39) |
D48G |
probably benign |
Het |
| Fbn1 |
G |
A |
2: 125,143,669 (GRCm39) |
T2820M |
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,901,023 (GRCm39) |
S277R |
possibly damaging |
Het |
| Fmo2 |
A |
G |
1: 162,704,497 (GRCm39) |
S470P |
probably benign |
Het |
| Gm17541 |
T |
G |
12: 4,739,730 (GRCm39) |
|
probably benign |
Het |
| Gm4353 |
A |
T |
7: 115,682,706 (GRCm39) |
Y292N |
probably benign |
Het |
| Igkv4-71 |
A |
T |
6: 69,220,290 (GRCm39) |
I69N |
probably damaging |
Het |
| Insrr |
G |
T |
3: 87,717,991 (GRCm39) |
A871S |
probably benign |
Het |
| Irs2 |
C |
T |
8: 11,056,396 (GRCm39) |
V679M |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,326,263 (GRCm39) |
H1344Q |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,361,784 (GRCm39) |
M1074V |
possibly damaging |
Het |
| Kif1a |
G |
A |
1: 92,983,967 (GRCm39) |
R602W |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,090,837 (GRCm39) |
D1215V |
probably benign |
Het |
| Mapk13 |
G |
A |
17: 28,995,327 (GRCm39) |
V183M |
probably damaging |
Het |
| Mbp |
C |
T |
18: 82,593,322 (GRCm39) |
S100F |
probably damaging |
Het |
| Mcm6 |
A |
G |
1: 128,283,373 (GRCm39) |
I44T |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,264,148 (GRCm39) |
D418V |
possibly damaging |
Het |
| Nid2 |
T |
A |
14: 19,839,736 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
T |
C |
19: 46,067,359 (GRCm39) |
V80A |
probably damaging |
Het |
| Or10a5 |
A |
T |
7: 106,635,439 (GRCm39) |
T26S |
probably benign |
Het |
| Or10ak14 |
C |
A |
4: 118,611,027 (GRCm39) |
C238F |
probably benign |
Het |
| Or12e9 |
A |
T |
2: 87,201,896 (GRCm39) |
R7W |
probably damaging |
Het |
| Or13e8 |
A |
C |
4: 43,697,079 (GRCm39) |
C31W |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,702,492 (GRCm39) |
L204* |
probably null |
Het |
| Or2ag1 |
A |
T |
7: 106,313,810 (GRCm39) |
M26K |
probably benign |
Het |
| Or2ag18 |
G |
A |
7: 106,405,018 (GRCm39) |
S217F |
probably damaging |
Het |
| Or4a68 |
T |
C |
2: 89,270,060 (GRCm39) |
T188A |
probably benign |
Het |
| Or4e1 |
T |
A |
14: 52,701,383 (GRCm39) |
M1L |
possibly damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,815 (GRCm39) |
I51N |
probably damaging |
Het |
| Or5m12 |
A |
G |
2: 85,735,348 (GRCm39) |
F17L |
probably damaging |
Het |
| Or7g35 |
T |
A |
9: 19,495,914 (GRCm39) |
I27N |
probably damaging |
Het |
| Pcgf3 |
T |
A |
5: 108,622,978 (GRCm39) |
C38S |
probably damaging |
Het |
| Pdia4 |
A |
T |
6: 47,777,936 (GRCm39) |
V352E |
probably damaging |
Het |
| Pik3c2a |
C |
A |
7: 115,953,290 (GRCm39) |
V1202L |
probably damaging |
Het |
| Rbm15 |
G |
T |
3: 107,239,846 (GRCm39) |
A184E |
possibly damaging |
Het |
| Rsph3a |
T |
A |
17: 8,197,952 (GRCm39) |
L442* |
probably null |
Het |
| Scg2 |
G |
C |
1: 79,413,320 (GRCm39) |
L468V |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,923,473 (GRCm39) |
I365L |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,246,140 (GRCm39) |
V595A |
probably benign |
Het |
| Skic3 |
A |
C |
13: 76,295,925 (GRCm39) |
M1063L |
probably benign |
Het |
| Slc22a22 |
T |
A |
15: 57,113,046 (GRCm39) |
T398S |
probably benign |
Het |
| Stk11 |
C |
A |
10: 79,962,119 (GRCm39) |
P217Q |
probably damaging |
Het |
| Tes |
G |
A |
6: 17,097,557 (GRCm39) |
D222N |
probably benign |
Het |
| Tmem132e |
T |
A |
11: 82,325,894 (GRCm39) |
I206N |
possibly damaging |
Het |
| Tmem214 |
G |
T |
5: 31,029,876 (GRCm39) |
R251L |
probably damaging |
Het |
| Tmem253 |
T |
A |
14: 52,256,036 (GRCm39) |
I105N |
probably damaging |
Het |
| Toe1 |
A |
G |
4: 116,664,682 (GRCm39) |
V12A |
probably benign |
Het |
| Top1 |
C |
A |
2: 160,556,079 (GRCm39) |
H513N |
probably damaging |
Het |
| Tph1 |
G |
T |
7: 46,299,412 (GRCm39) |
Y376* |
probably null |
Het |
| Trim45 |
T |
A |
3: 100,830,535 (GRCm39) |
L103Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,774,518 (GRCm39) |
|
probably null |
Het |
| Twnk |
T |
C |
19: 44,996,185 (GRCm39) |
V206A |
probably damaging |
Het |
| Ube2z |
A |
G |
11: 95,941,114 (GRCm39) |
S343P |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,951,049 (GRCm39) |
D132G |
probably benign |
Het |
| Wdr20rt |
A |
T |
12: 65,272,581 (GRCm39) |
T15S |
probably benign |
Het |
| Wdr59 |
C |
T |
8: 112,185,579 (GRCm39) |
R841Q |
possibly damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,036,151 (GRCm39) |
F130L |
possibly damaging |
Het |
| Wnk1 |
C |
T |
6: 119,939,764 (GRCm39) |
R43Q |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,236 (GRCm39) |
L461P |
probably damaging |
Het |
| Zcchc2 |
T |
G |
1: 105,943,821 (GRCm39) |
F462C |
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 |
|
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'- CGTAGTCCATGCCTAGTTGTCACC -3'
(R):5'- CAAAATTCTGGATGCGCGGATGAG -3'
Sequencing Primer
(F):5'- AGTTGTCACCGCCAATGTC -3'
(R):5'- CGCGGATGAGTGGGATG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation