Incidental Mutation 'R0472:Fcho2'
| ID |
46845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho2
|
| Ensembl Gene |
ENSMUSG00000041685 |
| Gene Name |
FCH domain only 2 |
| Synonyms |
5832424M12Rik |
| MMRRC Submission |
038672-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0472 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98884775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 431
(F431L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040340]
[ENSMUST00000099277]
[ENSMUST00000179563]
[ENSMUST00000224992]
|
| AlphaFold |
Q3UQN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040340
AA Change: F431L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: F431L
| 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: 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: ENSMUST00000223634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225945
|
| Meta Mutation Damage Score |
0.0601 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700128F08Rik |
A |
G |
9: 8,222,123 (GRCm39) |
|
noncoding transcript |
Het |
| AI182371 |
T |
C |
2: 34,975,218 (GRCm39) |
N337S |
probably benign |
Het |
| Aldh3b1 |
C |
T |
19: 3,964,024 (GRCm39) |
R426H |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,864,002 (GRCm39) |
F541L |
probably damaging |
Het |
| Asap2 |
G |
T |
12: 21,263,186 (GRCm39) |
R267L |
possibly damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bmp8b |
T |
A |
4: 123,015,692 (GRCm39) |
D226E |
probably benign |
Het |
| C1ra |
T |
A |
6: 124,494,403 (GRCm39) |
D283E |
possibly damaging |
Het |
| Cacul1 |
G |
T |
19: 60,531,464 (GRCm39) |
H268Q |
probably damaging |
Het |
| Cd9 |
T |
C |
6: 125,449,396 (GRCm39) |
N49D |
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,867,744 (GRCm39) |
H193R |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,387,317 (GRCm39) |
G1935E |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,790,469 (GRCm39) |
I1362N |
probably damaging |
Het |
| Chchd7 |
A |
T |
4: 3,943,416 (GRCm39) |
N61I |
possibly damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,733,106 (GRCm39) |
L134Q |
probably damaging |
Het |
| Clec2j |
T |
C |
6: 128,633,565 (GRCm39) |
|
noncoding transcript |
Het |
| Clvs1 |
G |
A |
4: 9,281,801 (GRCm39) |
A82T |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,825,486 (GRCm39) |
Y231F |
possibly damaging |
Het |
| Cyp2c55 |
A |
T |
19: 39,019,823 (GRCm39) |
T254S |
probably benign |
Het |
| Decr1 |
A |
G |
4: 15,919,849 (GRCm39) |
S290P |
probably damaging |
Het |
| Dnai2 |
T |
A |
11: 114,636,015 (GRCm39) |
|
probably benign |
Het |
| Dock4 |
C |
A |
12: 40,888,437 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
C |
1: 34,306,041 (GRCm39) |
|
probably null |
Het |
| Elmo2 |
A |
G |
2: 165,140,250 (GRCm39) |
I315T |
probably damaging |
Het |
| Fez2 |
A |
G |
17: 78,692,261 (GRCm39) |
|
probably benign |
Het |
| Gas2l3 |
C |
T |
10: 89,262,339 (GRCm39) |
A128T |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,001,602 (GRCm39) |
I222M |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,472,139 (GRCm39) |
N1548S |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,832 (GRCm39) |
D471G |
probably benign |
Het |
| Kcnj13 |
T |
A |
1: 87,314,568 (GRCm39) |
Y218F |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,946,719 (GRCm39) |
H1763R |
probably damaging |
Het |
| Krt1c |
C |
T |
15: 101,721,688 (GRCm39) |
R451H |
probably damaging |
Het |
| Lama2 |
A |
G |
10: 26,866,863 (GRCm39) |
V2877A |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,685 (GRCm39) |
M80L |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,438,768 (GRCm39) |
V343A |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,341,532 (GRCm39) |
Y753H |
probably damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,486,987 (GRCm39) |
S58R |
probably damaging |
Het |
| Or51h7 |
A |
T |
7: 102,591,258 (GRCm39) |
C175* |
probably null |
Het |
| Or5w20 |
T |
A |
2: 87,726,837 (GRCm39) |
V98E |
possibly damaging |
Het |
| Or9r3 |
G |
A |
10: 129,948,449 (GRCm39) |
S70F |
probably damaging |
Het |
| Osbpl11 |
C |
A |
16: 33,054,814 (GRCm39) |
Y632* |
probably null |
Het |
| Pask |
A |
T |
1: 93,248,639 (GRCm39) |
D920E |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
| Ptpn21 |
G |
A |
12: 98,670,499 (GRCm39) |
|
probably benign |
Het |
| Rph3al |
T |
C |
11: 75,799,795 (GRCm39) |
I55V |
probably benign |
Het |
| Rsad2 |
T |
G |
12: 26,504,167 (GRCm39) |
I121L |
possibly damaging |
Het |
| Sergef |
T |
G |
7: 46,283,170 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Tas2r104 |
T |
C |
6: 131,662,434 (GRCm39) |
I92V |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,638,364 (GRCm39) |
S456P |
possibly damaging |
Het |
| Tbc1d23 |
T |
A |
16: 56,993,469 (GRCm39) |
I566F |
possibly damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,055 (GRCm39) |
|
probably null |
Het |
| Tie1 |
T |
A |
4: 118,333,344 (GRCm39) |
I841L |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,150,485 (GRCm39) |
V465A |
probably benign |
Het |
| Ttll3 |
A |
T |
6: 113,386,300 (GRCm39) |
Q711L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,783,385 (GRCm39) |
R869H |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,332,748 (GRCm39) |
V62A |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,334,509 (GRCm39) |
|
probably benign |
Het |
| Vmn1r17 |
C |
A |
6: 57,338,304 (GRCm39) |
M20I |
probably benign |
Het |
| Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
| Vmn2r120 |
C |
T |
17: 57,831,518 (GRCm39) |
V424I |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,417,779 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
C |
A |
5: 102,105,309 (GRCm39) |
A173S |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,213,629 (GRCm39) |
|
probably null |
Het |
| Ythdc2 |
A |
T |
18: 44,997,424 (GRCm39) |
M994L |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,320,120 (GRCm39) |
F450I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCTGACAGAAGAGAGATGGTTC -3'
(R):5'- GTCTATCAGGTAGCTCATCCACATTGC -3'
Sequencing Primer
(F):5'- GATGGAACTCACTATTACTGGATGAC -3'
(R):5'- CCCTGCCAACAAGATGTTATATTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation