Incidental Mutation 'IGL01449:Fcho2'
| ID |
84575 |
| 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 # |
IGL01449
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 98926315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 89
(D89E)
|
| 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
AA Change: D89E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: D89E
| 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
AA Change: D89E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685
AA Change: D89E
| 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
AA Change: D89E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: D89E
| 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
AA Change: D89E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: D89E
| 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
AA Change: D89E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225840
AA Change: D89E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,198,693 (GRCm39) |
L33F |
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,712,927 (GRCm39) |
|
probably null |
Het |
| Aldh16a1 |
C |
A |
7: 44,791,391 (GRCm39) |
A105S |
probably damaging |
Het |
| Angpt2 |
T |
C |
8: 18,760,641 (GRCm39) |
T154A |
probably benign |
Het |
| BC051665 |
A |
G |
13: 60,930,518 (GRCm39) |
V278A |
probably damaging |
Het |
| Cap1 |
T |
C |
4: 122,753,980 (GRCm39) |
T458A |
probably damaging |
Het |
| Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,632,978 (GRCm39) |
D408G |
probably benign |
Het |
| Fam217b |
T |
A |
2: 178,062,943 (GRCm39) |
S302R |
probably damaging |
Het |
| Fnip1 |
C |
T |
11: 54,390,334 (GRCm39) |
R434C |
probably damaging |
Het |
| Gga3 |
G |
A |
11: 115,479,928 (GRCm39) |
T261M |
probably damaging |
Het |
| Gm21985 |
T |
C |
2: 112,169,741 (GRCm39) |
F292L |
probably damaging |
Het |
| Gm43638 |
A |
T |
5: 87,634,074 (GRCm39) |
S178T |
possibly damaging |
Het |
| Igkv10-95 |
G |
A |
6: 68,657,748 (GRCm39) |
G68E |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,469,857 (GRCm39) |
V1442D |
probably damaging |
Het |
| Lpcat2 |
G |
A |
8: 93,597,775 (GRCm39) |
R180Q |
possibly damaging |
Het |
| Muc6 |
C |
T |
7: 141,218,527 (GRCm39) |
A1984T |
possibly damaging |
Het |
| Npy4r |
T |
A |
14: 33,868,322 (GRCm39) |
Y322F |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,962,937 (GRCm39) |
H840Q |
probably damaging |
Het |
| Or7g26 |
G |
A |
9: 19,230,529 (GRCm39) |
G233D |
probably damaging |
Het |
| Osbpl2 |
G |
T |
2: 179,786,987 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
A |
5: 14,728,530 (GRCm39) |
|
probably benign |
Het |
| Pold4 |
T |
C |
19: 4,282,921 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16a |
A |
G |
15: 76,578,494 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
C |
T |
19: 46,053,671 (GRCm39) |
|
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,368,135 (GRCm39) |
D343G |
probably benign |
Het |
| Scaf11 |
A |
C |
15: 96,317,007 (GRCm39) |
S852R |
probably benign |
Het |
| Slc31a2 |
C |
T |
4: 62,210,933 (GRCm39) |
T22I |
probably damaging |
Het |
| Sox30 |
T |
A |
11: 45,872,169 (GRCm39) |
D341E |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,442,704 (GRCm39) |
S339P |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,558,673 (GRCm39) |
Y78N |
probably damaging |
Het |
| Ttc1 |
T |
A |
11: 43,629,630 (GRCm39) |
S179C |
probably damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,631,129 (GRCm39) |
S142T |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,140,047 (GRCm39) |
A1210E |
probably damaging |
Het |
| Uroc1 |
C |
A |
6: 90,315,635 (GRCm39) |
P172Q |
probably damaging |
Het |
| Usp12 |
T |
C |
5: 146,691,250 (GRCm39) |
D168G |
probably benign |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,916 (GRCm39) |
M287L |
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,420,428 (GRCm39) |
Q1710* |
probably null |
Het |
| Wdfy4 |
T |
A |
14: 32,825,994 (GRCm39) |
Q1219L |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,190,616 (GRCm39) |
T145A |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,334,846 (GRCm39) |
C204R |
probably damaging |
Het |
|
| Other mutations in Fcho2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation