Incidental Mutation 'R1643:Fcho2'
| ID |
173701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho2
|
| Ensembl Gene |
ENSMUSG00000041685 |
| Gene Name |
FCH domain only 2 |
| Synonyms |
5832424M12Rik |
| MMRRC Submission |
039679-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1643 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98921324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 187
(T187I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096883
(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: T187I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: T187I
| 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: T187I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685
AA Change: T187I
| 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: T187I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: T187I
| 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: T187I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: T187I
| 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: T187I
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: T187I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.5%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
T |
A |
16: 3,724,942 (GRCm39) |
K45* |
probably null |
Het |
| Abcc1 |
T |
A |
16: 14,231,232 (GRCm39) |
Y457N |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,017,009 (GRCm39) |
D19G |
probably damaging |
Het |
| Adam39 |
T |
C |
8: 41,279,523 (GRCm39) |
V638A |
possibly damaging |
Het |
| Adamts1 |
G |
T |
16: 85,593,705 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
A |
G |
17: 47,778,791 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,720,632 (GRCm39) |
S565N |
probably benign |
Het |
| Casd1 |
A |
G |
6: 4,621,243 (GRCm39) |
E267G |
probably benign |
Het |
| Casr |
T |
C |
16: 36,320,567 (GRCm39) |
K527R |
probably damaging |
Het |
| Cep128 |
A |
C |
12: 91,292,306 (GRCm39) |
S248A |
probably damaging |
Het |
| Clic4 |
A |
G |
4: 134,966,206 (GRCm39) |
V50A |
possibly damaging |
Het |
| Cylc2 |
C |
T |
4: 51,225,173 (GRCm39) |
A36V |
probably benign |
Het |
| Derl1 |
T |
A |
15: 57,741,955 (GRCm39) |
M127L |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,021,735 (GRCm39) |
V3529A |
possibly damaging |
Het |
| Dock1 |
G |
T |
7: 134,700,508 (GRCm39) |
L1089F |
probably damaging |
Het |
| Edil3 |
T |
A |
13: 89,437,695 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,589,804 (GRCm39) |
T134S |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 101,874,024 (GRCm39) |
V550A |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,515,902 (GRCm39) |
|
probably null |
Het |
| Gdf7 |
T |
C |
12: 8,347,971 (GRCm39) |
Y442C |
probably damaging |
Het |
| Gm11567 |
G |
A |
11: 99,770,623 (GRCm39) |
G187E |
unknown |
Het |
| Gm8674 |
T |
C |
13: 50,055,394 (GRCm39) |
|
noncoding transcript |
Het |
| Ift80 |
T |
A |
3: 68,823,490 (GRCm39) |
I591F |
probably benign |
Het |
| Kcnn3 |
C |
T |
3: 89,427,804 (GRCm39) |
S10L |
unknown |
Het |
| Keg1 |
A |
G |
19: 12,696,406 (GRCm39) |
I197V |
probably benign |
Het |
| Klhdc9 |
A |
G |
1: 171,187,034 (GRCm39) |
|
probably null |
Het |
| Klhl11 |
A |
G |
11: 100,353,841 (GRCm39) |
V660A |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,133,818 (GRCm39) |
|
probably benign |
Het |
| Lrrc73 |
G |
T |
17: 46,566,266 (GRCm39) |
|
probably null |
Het |
| Lrriq1 |
G |
A |
10: 103,050,685 (GRCm39) |
S689L |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,910,504 (GRCm39) |
|
probably benign |
Het |
| Meis1 |
A |
G |
11: 18,966,278 (GRCm39) |
S32P |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,226,631 (GRCm39) |
|
probably null |
Het |
| Mlph |
T |
C |
1: 90,869,456 (GRCm39) |
L486P |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,682,836 (GRCm39) |
E1090G |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,696,005 (GRCm39) |
S247P |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,331,712 (GRCm39) |
Y636C |
probably damaging |
Het |
| Nfib |
A |
T |
4: 82,416,916 (GRCm39) |
Y40N |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,052,808 (GRCm39) |
D94G |
probably benign |
Het |
| Nisch |
T |
C |
14: 30,895,125 (GRCm39) |
D1057G |
probably damaging |
Het |
| P3h2 |
T |
C |
16: 25,791,041 (GRCm39) |
H475R |
probably benign |
Het |
| Pde6c |
C |
A |
19: 38,150,406 (GRCm39) |
T517K |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,215,986 (GRCm39) |
I994V |
probably benign |
Het |
| Pik3r4 |
A |
G |
9: 105,564,351 (GRCm39) |
D1315G |
possibly damaging |
Het |
| Pip5k1c |
T |
G |
10: 81,150,828 (GRCm39) |
V46G |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,465,711 (GRCm39) |
E1213G |
probably damaging |
Het |
| Prl7d1 |
T |
C |
13: 27,896,114 (GRCm39) |
S88G |
possibly damaging |
Het |
| Prodh |
T |
A |
16: 17,898,933 (GRCm39) |
N72I |
probably benign |
Het |
| Prrc2a |
G |
A |
17: 35,375,930 (GRCm39) |
R907C |
probably damaging |
Het |
| Ptger2 |
T |
A |
14: 45,226,423 (GRCm39) |
M1K |
probably null |
Het |
| Samd4b |
G |
C |
7: 28,123,041 (GRCm39) |
Q6E |
probably damaging |
Het |
| Sec24a |
C |
T |
11: 51,595,212 (GRCm39) |
R916H |
probably benign |
Het |
| Slc12a5 |
C |
A |
2: 164,835,947 (GRCm39) |
D865E |
probably benign |
Het |
| Slc17a3 |
T |
C |
13: 24,041,181 (GRCm39) |
|
probably benign |
Het |
| Ssrp1 |
T |
C |
2: 84,871,529 (GRCm39) |
V317A |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,035,307 (GRCm39) |
D95G |
possibly damaging |
Het |
| Taok2 |
A |
T |
7: 126,475,110 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
T |
G |
18: 60,949,300 (GRCm39) |
K1205T |
possibly damaging |
Het |
| Trim43c |
C |
T |
9: 88,729,530 (GRCm39) |
R325C |
probably damaging |
Het |
| Trub2 |
T |
G |
2: 29,667,948 (GRCm39) |
T231P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Uty |
T |
A |
Y: 1,152,054 (GRCm39) |
D724V |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,301,170 (GRCm39) |
D724G |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,023,781 (GRCm39) |
I2442T |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,795,542 (GRCm39) |
|
probably null |
Het |
| Zfp280b |
A |
G |
10: 75,875,444 (GRCm39) |
H441R |
probably damaging |
Het |
| Zfp60 |
A |
T |
7: 27,436,400 (GRCm39) |
Q7L |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,717,028 (GRCm39) |
L406S |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACAGCACTCAAACAGTTCAGTT -3'
(R):5'- ACATTGCTTCCTTACCAGTTTCTCACAG -3'
Sequencing Primer
(F):5'- CAATGTTCACAAATATAAGCATCCTG -3'
(R):5'- cccacagccacctctaac -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation