Incidental Mutation 'IGL03243:Fcho2'
ID |
414324 |
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 # |
IGL03243
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 98913892 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040340]
[ENSMUST00000099277]
[ENSMUST00000109403]
[ENSMUST00000179563]
[ENSMUST00000224992]
[ENSMUST00000225840]
|
AlphaFold |
Q3UQN2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040340
|
SMART Domains |
Protein: ENSMUSP00000042959 Gene: ENSMUSG00000041685
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 |
probably benign
Transcript: ENSMUST00000109403
|
SMART Domains |
Protein: ENSMUSP00000105030 Gene: ENSMUSG00000041685
Domain | Start | End | E-Value | Type |
FCH
|
8 |
94 |
1.74e-19 |
SMART |
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179563
|
SMART Domains |
Protein: ENSMUSP00000137422 Gene: ENSMUSG00000041685
Domain | Start | End | E-Value | Type |
FCH
|
8 |
94 |
1.74e-19 |
SMART |
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224231
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225094
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225840
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
C |
8: 44,021,733 (GRCm39) |
T586A |
probably benign |
Het |
Agtr1b |
T |
C |
3: 20,369,959 (GRCm39) |
T216A |
probably benign |
Het |
Ankdd1a |
T |
C |
9: 65,408,752 (GRCm39) |
R505G |
probably benign |
Het |
Anxa3 |
A |
T |
5: 96,976,551 (GRCm39) |
|
probably benign |
Het |
Atp6v1c2 |
C |
T |
12: 17,339,122 (GRCm39) |
V210I |
probably benign |
Het |
BC034090 |
G |
A |
1: 155,101,401 (GRCm39) |
P288S |
possibly damaging |
Het |
Catsper2 |
T |
C |
2: 121,237,300 (GRCm39) |
H200R |
probably benign |
Het |
Ceacam23 |
A |
T |
7: 17,652,574 (GRCm39) |
|
noncoding transcript |
Het |
Cntnap5c |
G |
T |
17: 58,409,171 (GRCm39) |
A470S |
probably benign |
Het |
Frem1 |
A |
C |
4: 82,932,206 (GRCm39) |
L165R |
probably damaging |
Het |
Gpn1 |
G |
A |
5: 31,668,175 (GRCm39) |
|
probably null |
Het |
Gpr179 |
T |
C |
11: 97,242,301 (GRCm39) |
N181S |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,070,509 (GRCm39) |
|
probably benign |
Het |
Kat6a |
A |
G |
8: 23,400,238 (GRCm39) |
N333S |
possibly damaging |
Het |
Lrp5 |
T |
C |
19: 3,680,159 (GRCm39) |
T442A |
probably benign |
Het |
Myo15a |
G |
T |
11: 60,387,344 (GRCm39) |
L722F |
probably damaging |
Het |
Nlrp9c |
T |
G |
7: 26,064,457 (GRCm39) |
D957A |
probably damaging |
Het |
Nup58 |
T |
A |
14: 60,459,065 (GRCm39) |
T521S |
probably benign |
Het |
Or7e165 |
T |
G |
9: 19,694,564 (GRCm39) |
I45S |
probably damaging |
Het |
Plek |
C |
A |
11: 16,945,319 (GRCm39) |
V4L |
possibly damaging |
Het |
Sell |
T |
A |
1: 163,892,911 (GRCm39) |
H42Q |
possibly damaging |
Het |
Slfn8 |
A |
T |
11: 82,894,533 (GRCm39) |
I702K |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,133,387 (GRCm39) |
I573V |
probably benign |
Het |
Tgm1 |
T |
A |
14: 55,943,364 (GRCm39) |
I526F |
probably damaging |
Het |
Tmem30c |
A |
T |
16: 57,096,513 (GRCm39) |
S203T |
probably benign |
Het |
Tox |
T |
C |
4: 6,697,597 (GRCm39) |
N402S |
possibly damaging |
Het |
Trav7d-4 |
C |
A |
14: 53,007,555 (GRCm39) |
|
probably benign |
Het |
Unc13d |
A |
T |
11: 115,958,670 (GRCm39) |
V784D |
probably benign |
Het |
Vmn2r68 |
A |
G |
7: 84,882,963 (GRCm39) |
V263A |
possibly damaging |
Het |
Zfp385c |
A |
T |
11: 100,525,573 (GRCm39) |
V56D |
probably damaging |
Het |
Znrf2 |
A |
T |
6: 54,861,754 (GRCm39) |
I222L |
possibly damaging |
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 |
IGL02516:Fcho2
|
APN |
13 |
98,866,720 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02715:Fcho2
|
APN |
13 |
98,932,843 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2016-08-02 |