Incidental Mutation 'R0010:Fcho1'
ID |
50146 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcho1
|
Ensembl Gene |
ENSMUSG00000070000 |
Gene Name |
FCH domain only 1 |
Synonyms |
3322402E17Rik |
MMRRC Submission |
038305-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.259)
|
Stock # |
R0010 (G1)
|
Quality Score |
50 |
Status
|
Validated
(trace)
|
Chromosome |
8 |
Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72162643 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 725
(Y725H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117606
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000136640]
[ENSMUST00000146100]
|
AlphaFold |
Q8K285 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093444
AA Change: Y725H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091151 Gene: ENSMUSG00000070000 AA Change: Y725H
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000143699
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146100
AA Change: Y725H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117606 Gene: ENSMUSG00000070000 AA Change: Y725H
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: ENSMUST00000149363
|
Meta Mutation Damage Score |
0.9451 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
100% (89/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
T |
C |
5: 30,410,607 (GRCm39) |
|
probably benign |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Aoc1l3 |
A |
T |
6: 48,965,840 (GRCm39) |
H616L |
probably damaging |
Het |
Bbs7 |
T |
C |
3: 36,661,866 (GRCm39) |
|
probably null |
Het |
Cacna1h |
T |
C |
17: 25,599,818 (GRCm39) |
K1566E |
probably damaging |
Het |
Ccdc73 |
C |
T |
2: 104,811,332 (GRCm39) |
|
probably benign |
Het |
Cd74 |
A |
T |
18: 60,942,143 (GRCm39) |
H124L |
probably benign |
Het |
Cd74 |
A |
T |
18: 60,936,968 (GRCm39) |
|
probably benign |
Het |
Cdk5rap2 |
T |
C |
4: 70,161,696 (GRCm39) |
E270G |
probably benign |
Het |
Ces2a |
G |
A |
8: 105,468,028 (GRCm39) |
D520N |
probably benign |
Het |
Cldnd1 |
T |
A |
16: 58,551,622 (GRCm39) |
|
probably benign |
Het |
Cox17 |
T |
A |
16: 38,167,532 (GRCm39) |
C24S |
possibly damaging |
Het |
Cyp2b9 |
T |
A |
7: 25,886,178 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,803,997 (GRCm39) |
L1112P |
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,699,814 (GRCm39) |
S222P |
probably damaging |
Het |
Dhx37 |
T |
A |
5: 125,508,680 (GRCm39) |
Q85L |
probably benign |
Het |
Egfem1 |
G |
T |
3: 29,637,068 (GRCm39) |
C192F |
probably damaging |
Het |
Eif3f |
A |
T |
7: 108,540,212 (GRCm39) |
N336Y |
possibly damaging |
Het |
Evc2 |
T |
A |
5: 37,574,793 (GRCm39) |
L1016Q |
probably damaging |
Het |
Fam114a2 |
G |
T |
11: 57,404,982 (GRCm39) |
T40N |
probably damaging |
Het |
Fam135b |
T |
C |
15: 71,493,881 (GRCm39) |
K16R |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,918,335 (GRCm39) |
I536V |
probably benign |
Het |
Galnt2l |
G |
A |
8: 122,997,337 (GRCm39) |
|
probably benign |
Het |
Ginm1 |
T |
C |
10: 7,651,138 (GRCm39) |
|
probably benign |
Het |
Glrb |
A |
T |
3: 80,767,622 (GRCm39) |
|
probably benign |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Gm10320 |
T |
C |
13: 98,626,054 (GRCm39) |
Y110C |
probably damaging |
Het |
Gm3985 |
A |
T |
8: 33,432,484 (GRCm39) |
|
noncoding transcript |
Het |
Gm5422 |
A |
G |
10: 31,125,750 (GRCm39) |
|
noncoding transcript |
Het |
Igkv6-29 |
A |
T |
6: 70,115,754 (GRCm39) |
|
probably benign |
Het |
Inpp5d |
G |
A |
1: 87,625,268 (GRCm39) |
|
probably null |
Het |
Itpr3 |
T |
G |
17: 27,339,951 (GRCm39) |
V2610G |
probably damaging |
Het |
Kmt5c |
T |
A |
7: 4,749,207 (GRCm39) |
M88K |
probably benign |
Het |
Lrp12 |
C |
T |
15: 39,741,672 (GRCm39) |
A367T |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,670,386 (GRCm39) |
T1476A |
probably damaging |
Het |
Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
Milr1 |
T |
G |
11: 106,657,829 (GRCm39) |
*209G |
probably null |
Het |
Mitf |
A |
G |
6: 97,784,242 (GRCm39) |
K33R |
probably benign |
Het |
Mon2 |
A |
C |
10: 122,868,599 (GRCm39) |
S485A |
probably damaging |
Het |
Mpdu1 |
C |
T |
11: 69,549,667 (GRCm39) |
G47R |
probably damaging |
Het |
Ms4a4d |
A |
G |
19: 11,532,190 (GRCm39) |
N112S |
probably damaging |
Het |
Mybpc3 |
G |
A |
2: 90,965,178 (GRCm39) |
W1082* |
probably null |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Naa15 |
A |
T |
3: 51,343,634 (GRCm39) |
|
probably null |
Het |
Nav3 |
A |
G |
10: 109,659,087 (GRCm39) |
|
probably benign |
Het |
Nek7 |
T |
A |
1: 138,471,942 (GRCm39) |
Q66L |
possibly damaging |
Het |
Nktr |
G |
A |
9: 121,570,232 (GRCm39) |
|
probably benign |
Het |
Nlgn1 |
G |
T |
3: 25,490,006 (GRCm39) |
|
probably benign |
Het |
Npr1 |
T |
C |
3: 90,362,139 (GRCm39) |
E1002G |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,631,318 (GRCm39) |
I1072N |
probably damaging |
Het |
Oc90 |
C |
T |
15: 65,748,397 (GRCm39) |
C371Y |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,239 (GRCm39) |
D311E |
probably benign |
Het |
Or7g20 |
A |
T |
9: 18,946,618 (GRCm39) |
L66F |
probably damaging |
Het |
Or8b42 |
A |
T |
9: 38,342,216 (GRCm39) |
I213F |
possibly damaging |
Het |
Pradc1 |
A |
T |
6: 85,424,213 (GRCm39) |
N44K |
probably damaging |
Het |
Pradc1 |
T |
C |
6: 85,424,602 (GRCm39) |
D116G |
probably damaging |
Het |
Ptprk |
G |
A |
10: 28,461,965 (GRCm39) |
C91Y |
probably damaging |
Het |
Pus7 |
T |
C |
5: 23,952,843 (GRCm39) |
I491V |
probably benign |
Het |
Rock1 |
T |
A |
18: 10,084,380 (GRCm39) |
D951V |
probably damaging |
Het |
Scgb2b26 |
T |
A |
7: 33,643,774 (GRCm39) |
E55D |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,911,454 (GRCm39) |
V958A |
probably damaging |
Het |
Sec14l1 |
T |
C |
11: 117,034,596 (GRCm39) |
|
probably benign |
Het |
Sec24c |
A |
G |
14: 20,739,329 (GRCm39) |
|
probably benign |
Het |
Sema6b |
C |
T |
17: 56,431,105 (GRCm39) |
E853K |
probably benign |
Het |
Sgk1 |
G |
A |
10: 21,873,337 (GRCm39) |
|
probably null |
Het |
Shprh |
C |
T |
10: 11,027,675 (GRCm39) |
T94I |
probably benign |
Het |
Slc16a3 |
T |
C |
11: 120,847,531 (GRCm39) |
S240P |
probably benign |
Het |
Slc5a8 |
T |
C |
10: 88,722,452 (GRCm39) |
V95A |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,771,082 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
A |
1: 174,045,509 (GRCm39) |
V1556I |
probably benign |
Het |
Trappc14 |
T |
C |
5: 138,258,555 (GRCm39) |
|
probably null |
Het |
Trappc4 |
G |
A |
9: 44,316,528 (GRCm39) |
|
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 88,987,386 (GRCm39) |
S1188P |
probably benign |
Het |
Txlna |
T |
G |
4: 129,522,879 (GRCm39) |
D487A |
probably benign |
Het |
Ube2d2b |
T |
C |
5: 107,978,502 (GRCm39) |
F51S |
possibly damaging |
Het |
Vmn2r6 |
G |
A |
3: 64,466,966 (GRCm39) |
Q178* |
probably null |
Het |
Wdfy3 |
T |
C |
5: 101,996,215 (GRCm39) |
T3234A |
probably damaging |
Het |
Ylpm1 |
C |
A |
12: 85,075,800 (GRCm39) |
Q384K |
probably damaging |
Het |
Zbtb41 |
T |
G |
1: 139,351,268 (GRCm39) |
V127G |
probably damaging |
Het |
Zfp605 |
T |
A |
5: 110,275,400 (GRCm39) |
C173S |
probably benign |
Het |
Zfp608 |
A |
T |
18: 55,028,286 (GRCm39) |
|
probably benign |
Het |
Zhx2 |
T |
C |
15: 57,684,670 (GRCm39) |
V13A |
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 |
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'- AGCCTAGTCCAAGCAATGTGCAAC -3'
(R):5'- TGCAAGTATAACCAGGAGGGTCCAG -3'
Sequencing Primer
(F):5'- GCAATGTGCAACCACCAGTATC -3'
(R):5'- gtgtggcatggggcaag -3'
|
Posted On |
2013-06-20 |