Incidental Mutation 'IGL02516:Fcho2'
ID |
296775 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fcho2
|
Ensembl Gene |
ENSMUSG00000041685 |
Gene Name |
FCH domain only 2 |
Synonyms |
5832424M12Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02516
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98866720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 740
(I740T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042959
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040340]
[ENSMUST00000099277]
|
AlphaFold |
Q3UQN2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040340
AA Change: I740T
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000042959 Gene: ENSMUSG00000041685 AA Change: I740T
Domain | Start | End | E-Value | Type |
FCH
|
8 |
94 |
1.74e-19 |
SMART |
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
low complexity region
|
433 |
456 |
N/A |
INTRINSIC |
low complexity region
|
485 |
501 |
N/A |
INTRINSIC |
low complexity region
|
503 |
520 |
N/A |
INTRINSIC |
Pfam:muHD
|
542 |
808 |
2.5e-71 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099277
|
SMART Domains |
Protein: ENSMUSP00000096883 Gene: ENSMUSG00000041685
Domain | Start | End | E-Value | Type |
FCH
|
8 |
94 |
1.74e-19 |
SMART |
low complexity region
|
342 |
352 |
N/A |
INTRINSIC |
low complexity region
|
434 |
457 |
N/A |
INTRINSIC |
low complexity region
|
486 |
502 |
N/A |
INTRINSIC |
low complexity region
|
504 |
521 |
N/A |
INTRINSIC |
Pfam:muHD
|
543 |
803 |
4.7e-68 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225686
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225945
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
C |
T |
8: 25,388,612 (GRCm39) |
S364N |
probably damaging |
Het |
Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
App |
T |
C |
16: 84,752,305 (GRCm39) |
T743A |
probably damaging |
Het |
Armc3 |
A |
G |
2: 19,305,317 (GRCm39) |
K692E |
possibly damaging |
Het |
Arpp21 |
T |
C |
9: 112,014,729 (GRCm39) |
N25S |
probably damaging |
Het |
Avpr1b |
G |
A |
1: 131,528,367 (GRCm39) |
V297I |
probably damaging |
Het |
Bpi |
A |
G |
2: 158,109,651 (GRCm39) |
I200V |
possibly damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,248,831 (GRCm39) |
|
probably benign |
Het |
Cbarp |
A |
G |
10: 79,971,379 (GRCm39) |
Y149H |
probably damaging |
Het |
Ccdc85c |
T |
C |
12: 108,241,160 (GRCm39) |
N78S |
unknown |
Het |
Cdcp1 |
G |
T |
9: 123,002,702 (GRCm39) |
L790M |
possibly damaging |
Het |
Cdkn2d |
T |
A |
9: 21,200,439 (GRCm39) |
I111F |
probably benign |
Het |
Ctsr |
A |
G |
13: 61,310,992 (GRCm39) |
V18A |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,844,161 (GRCm39) |
D60G |
probably damaging |
Het |
Daw1 |
A |
C |
1: 83,186,949 (GRCm39) |
N253T |
probably benign |
Het |
Dcaf7 |
T |
A |
11: 105,942,698 (GRCm39) |
I215N |
probably damaging |
Het |
Ddc |
A |
C |
11: 11,779,125 (GRCm39) |
L333R |
probably damaging |
Het |
Dennd1a |
A |
G |
2: 37,742,406 (GRCm39) |
|
probably null |
Het |
Dnah10 |
C |
A |
5: 124,864,395 (GRCm39) |
T2200K |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,713,881 (GRCm39) |
Y1883C |
probably damaging |
Het |
Ecpas |
T |
C |
4: 58,877,102 (GRCm39) |
E111G |
probably damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,266,735 (GRCm39) |
I752N |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,450,840 (GRCm39) |
D1496G |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,676,482 (GRCm39) |
V583A |
possibly damaging |
Het |
Greb1l |
A |
C |
18: 10,537,064 (GRCm39) |
T1010P |
probably benign |
Het |
Hs3st6 |
T |
C |
17: 24,977,105 (GRCm39) |
L195P |
probably damaging |
Het |
Hyi |
A |
G |
4: 118,219,680 (GRCm39) |
E239G |
probably damaging |
Het |
Ighv2-3 |
G |
T |
12: 113,574,818 (GRCm39) |
Y112* |
probably null |
Het |
Ints3 |
A |
G |
3: 90,310,415 (GRCm39) |
F495S |
probably damaging |
Het |
Itih2 |
T |
A |
2: 10,102,728 (GRCm39) |
H802L |
probably benign |
Het |
Jag2 |
C |
T |
12: 112,874,186 (GRCm39) |
V990M |
probably damaging |
Het |
Kat6b |
T |
C |
14: 21,659,936 (GRCm39) |
|
probably benign |
Het |
Krtap4-8 |
C |
T |
11: 99,671,168 (GRCm39) |
|
probably benign |
Het |
Lhx4 |
A |
G |
1: 155,578,003 (GRCm39) |
S380P |
probably damaging |
Het |
Morn3 |
C |
A |
5: 123,175,363 (GRCm39) |
E33* |
probably null |
Het |
Mug2 |
C |
T |
6: 122,047,802 (GRCm39) |
A771V |
probably damaging |
Het |
N4bp3 |
A |
T |
11: 51,535,161 (GRCm39) |
S343T |
probably benign |
Het |
Nlrp1a |
T |
C |
11: 71,005,286 (GRCm39) |
N643S |
probably damaging |
Het |
Or2c1 |
A |
C |
16: 3,657,200 (GRCm39) |
D121A |
probably damaging |
Het |
Or2h1b |
T |
A |
17: 37,462,163 (GRCm39) |
R79S |
possibly damaging |
Het |
Or6c8 |
T |
A |
10: 128,915,662 (GRCm39) |
M57L |
possibly damaging |
Het |
Phc3 |
A |
G |
3: 31,002,942 (GRCm39) |
F192S |
probably damaging |
Het |
Pigq |
C |
T |
17: 26,156,221 (GRCm39) |
R69H |
probably benign |
Het |
Plk3 |
A |
G |
4: 116,989,186 (GRCm39) |
C222R |
probably damaging |
Het |
Pomt2 |
T |
C |
12: 87,166,420 (GRCm39) |
T490A |
probably benign |
Het |
Prss29 |
T |
C |
17: 25,539,875 (GRCm39) |
I91T |
probably damaging |
Het |
Ralgapb |
A |
T |
2: 158,307,735 (GRCm39) |
|
probably benign |
Het |
Sccpdh |
G |
A |
1: 179,509,256 (GRCm39) |
G75D |
probably damaging |
Het |
Serpine2 |
T |
C |
1: 79,772,714 (GRCm39) |
|
probably benign |
Het |
Sfr1 |
T |
G |
19: 47,721,429 (GRCm39) |
|
probably null |
Het |
Slc22a23 |
C |
A |
13: 34,387,938 (GRCm39) |
C386F |
probably benign |
Het |
Slc22a27 |
T |
C |
19: 7,842,176 (GRCm39) |
K433R |
probably damaging |
Het |
Slc39a12 |
T |
C |
2: 14,405,146 (GRCm39) |
L246P |
probably damaging |
Het |
Slc4a11 |
A |
G |
2: 130,533,313 (GRCm39) |
I191T |
possibly damaging |
Het |
Slc9c1 |
A |
G |
16: 45,398,238 (GRCm39) |
N668D |
probably damaging |
Het |
Supt16 |
A |
T |
14: 52,421,421 (GRCm39) |
D41E |
possibly damaging |
Het |
Tamalin |
G |
A |
15: 101,126,932 (GRCm39) |
V137I |
probably damaging |
Het |
Ugt2b37 |
A |
G |
5: 87,388,741 (GRCm39) |
S491P |
probably damaging |
Het |
Urb1 |
G |
T |
16: 90,569,583 (GRCm39) |
T1381N |
possibly damaging |
Het |
Usp8 |
A |
G |
2: 126,584,094 (GRCm39) |
I423M |
probably benign |
Het |
Vmn1r191 |
T |
A |
13: 22,363,710 (GRCm39) |
I15F |
probably benign |
Het |
Zbtb5 |
A |
T |
4: 44,993,798 (GRCm39) |
Y529N |
probably damaging |
Het |
Zfp541 |
T |
A |
7: 15,816,918 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Fcho2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01449:Fcho2
|
APN |
13 |
98,926,315 (GRCm39) |
missense |
probably benign |
|
IGL02058:Fcho2
|
APN |
13 |
98,867,414 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02715:Fcho2
|
APN |
13 |
98,932,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03243:Fcho2
|
APN |
13 |
98,913,892 (GRCm39) |
splice site |
probably benign |
|
R0044:Fcho2
|
UTSW |
13 |
98,892,052 (GRCm39) |
intron |
probably benign |
|
R0087:Fcho2
|
UTSW |
13 |
98,871,594 (GRCm39) |
missense |
probably benign |
0.00 |
R0472:Fcho2
|
UTSW |
13 |
98,884,775 (GRCm39) |
missense |
probably benign |
0.01 |
R0501:Fcho2
|
UTSW |
13 |
98,901,023 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1022:Fcho2
|
UTSW |
13 |
98,869,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R1024:Fcho2
|
UTSW |
13 |
98,869,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R1130:Fcho2
|
UTSW |
13 |
98,884,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R1495:Fcho2
|
UTSW |
13 |
98,886,358 (GRCm39) |
critical splice donor site |
probably null |
|
R1593:Fcho2
|
UTSW |
13 |
98,921,315 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1608:Fcho2
|
UTSW |
13 |
98,862,706 (GRCm39) |
missense |
probably benign |
0.01 |
R1638:Fcho2
|
UTSW |
13 |
98,882,403 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1643:Fcho2
|
UTSW |
13 |
98,921,324 (GRCm39) |
missense |
probably benign |
0.00 |
R2125:Fcho2
|
UTSW |
13 |
98,912,406 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3117:Fcho2
|
UTSW |
13 |
98,913,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R3968:Fcho2
|
UTSW |
13 |
98,871,564 (GRCm39) |
missense |
probably benign |
0.06 |
R3970:Fcho2
|
UTSW |
13 |
98,871,564 (GRCm39) |
missense |
probably benign |
0.06 |
R4079:Fcho2
|
UTSW |
13 |
98,892,120 (GRCm39) |
missense |
probably damaging |
0.99 |
R4816:Fcho2
|
UTSW |
13 |
98,942,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R5338:Fcho2
|
UTSW |
13 |
98,867,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R5437:Fcho2
|
UTSW |
13 |
98,913,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5457:Fcho2
|
UTSW |
13 |
98,926,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R5733:Fcho2
|
UTSW |
13 |
98,926,310 (GRCm39) |
missense |
probably damaging |
0.99 |
R6136:Fcho2
|
UTSW |
13 |
98,926,275 (GRCm39) |
missense |
probably damaging |
0.99 |
R6186:Fcho2
|
UTSW |
13 |
98,951,591 (GRCm39) |
missense |
probably benign |
0.01 |
R6365:Fcho2
|
UTSW |
13 |
98,926,367 (GRCm39) |
missense |
probably benign |
0.20 |
R7041:Fcho2
|
UTSW |
13 |
98,921,334 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7168:Fcho2
|
UTSW |
13 |
98,925,971 (GRCm39) |
missense |
probably benign |
|
R7218:Fcho2
|
UTSW |
13 |
98,890,121 (GRCm39) |
splice site |
probably null |
|
R7243:Fcho2
|
UTSW |
13 |
98,891,724 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7533:Fcho2
|
UTSW |
13 |
98,921,307 (GRCm39) |
missense |
probably benign |
0.00 |
R7757:Fcho2
|
UTSW |
13 |
98,901,011 (GRCm39) |
critical splice donor site |
probably null |
|
R7904:Fcho2
|
UTSW |
13 |
98,932,871 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7993:Fcho2
|
UTSW |
13 |
98,888,524 (GRCm39) |
splice site |
probably null |
|
R8004:Fcho2
|
UTSW |
13 |
98,926,013 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8358:Fcho2
|
UTSW |
13 |
98,862,282 (GRCm39) |
nonsense |
probably null |
|
R8512:Fcho2
|
UTSW |
13 |
98,891,730 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8692:Fcho2
|
UTSW |
13 |
98,882,382 (GRCm39) |
frame shift |
probably null |
|
R8792:Fcho2
|
UTSW |
13 |
98,951,769 (GRCm39) |
unclassified |
probably benign |
|
R8954:Fcho2
|
UTSW |
13 |
98,913,985 (GRCm39) |
missense |
probably benign |
0.05 |
R8969:Fcho2
|
UTSW |
13 |
98,891,604 (GRCm39) |
nonsense |
probably null |
|
R9091:Fcho2
|
UTSW |
13 |
98,925,869 (GRCm39) |
critical splice donor site |
probably null |
|
R9092:Fcho2
|
UTSW |
13 |
98,886,391 (GRCm39) |
missense |
probably benign |
0.01 |
R9171:Fcho2
|
UTSW |
13 |
98,891,607 (GRCm39) |
missense |
probably benign |
|
R9270:Fcho2
|
UTSW |
13 |
98,925,869 (GRCm39) |
critical splice donor site |
probably null |
|
R9668:Fcho2
|
UTSW |
13 |
98,913,965 (GRCm39) |
missense |
probably benign |
0.12 |
R9672:Fcho2
|
UTSW |
13 |
98,869,178 (GRCm39) |
nonsense |
probably null |
|
R9717:Fcho2
|
UTSW |
13 |
98,900,202 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Fcho2
|
UTSW |
13 |
98,868,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |