Incidental Mutation 'R1608:Fcho2'
| ID |
176644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho2
|
| Ensembl Gene |
ENSMUSG00000041685 |
| Gene Name |
FCH domain only 2 |
| Synonyms |
5832424M12Rik |
| MMRRC Submission |
039645-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1608 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98862706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 757
(D757G)
|
| 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: D757G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: D757G
| 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: ENSMUST00000225945
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
A |
G |
9: 30,813,775 (GRCm39) |
S797P |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,011,783 (GRCm39) |
Y829H |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,279,375 (GRCm39) |
D74G |
probably damaging |
Het |
| B3gat1 |
T |
C |
9: 26,663,112 (GRCm39) |
I13T |
probably damaging |
Het |
| Cbfa2t3 |
A |
T |
8: 123,374,448 (GRCm39) |
V99D |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,309,799 (GRCm39) |
C1600Y |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,078 (GRCm39) |
N291K |
probably damaging |
Het |
| Dennd1a |
T |
G |
2: 37,742,446 (GRCm39) |
M3L |
probably benign |
Het |
| Dnah12 |
C |
T |
14: 26,488,147 (GRCm39) |
P1017L |
probably damaging |
Het |
| Dnajc6 |
A |
T |
4: 101,456,364 (GRCm39) |
D86V |
probably damaging |
Het |
| Evx2 |
T |
G |
2: 74,488,195 (GRCm39) |
K208N |
probably damaging |
Het |
| F13a1 |
A |
G |
13: 37,052,785 (GRCm39) |
V718A |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Fryl |
C |
T |
5: 73,232,094 (GRCm39) |
W424* |
probably null |
Het |
| Gata3 |
G |
T |
2: 9,879,579 (GRCm39) |
Y97* |
probably null |
Het |
| Gm15446 |
T |
A |
5: 110,090,323 (GRCm39) |
C192S |
probably damaging |
Het |
| Hdac10 |
A |
T |
15: 89,009,521 (GRCm39) |
D470E |
probably benign |
Het |
| Ier2 |
A |
G |
8: 85,389,055 (GRCm39) |
L109P |
probably benign |
Het |
| Iftap |
T |
C |
2: 101,440,916 (GRCm39) |
E29G |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,217 (GRCm39) |
T559A |
probably benign |
Het |
| Khk |
C |
T |
5: 31,087,938 (GRCm39) |
A204V |
probably damaging |
Het |
| Kndc1 |
T |
A |
7: 139,507,321 (GRCm39) |
M1169K |
possibly damaging |
Het |
| Krtap31-1 |
A |
G |
11: 99,798,919 (GRCm39) |
S41G |
probably benign |
Het |
| Nabp1 |
T |
C |
1: 51,512,162 (GRCm39) |
|
probably null |
Het |
| Nphp3 |
A |
G |
9: 103,913,039 (GRCm39) |
D939G |
probably benign |
Het |
| Or5e1 |
A |
T |
7: 108,354,309 (GRCm39) |
N82I |
probably damaging |
Het |
| Plcg2 |
T |
C |
8: 118,340,974 (GRCm39) |
I1089T |
possibly damaging |
Het |
| Ptk2 |
A |
T |
15: 73,134,424 (GRCm39) |
D558E |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,112 (GRCm39) |
D168G |
probably benign |
Het |
| Shisa8 |
G |
A |
15: 82,092,756 (GRCm39) |
P189L |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,054,204 (GRCm39) |
V89A |
probably benign |
Het |
| Slc40a1 |
C |
T |
1: 45,950,457 (GRCm39) |
A332T |
probably damaging |
Het |
| Slc44a3 |
A |
T |
3: 121,291,496 (GRCm39) |
Y373* |
probably null |
Het |
| Slf2 |
T |
C |
19: 44,937,440 (GRCm39) |
V722A |
probably benign |
Het |
| Spanxn4 |
A |
G |
12: 62,734,624 (GRCm39) |
|
noncoding transcript |
Het |
| Stag3 |
T |
A |
5: 138,296,901 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,628,038 (GRCm39) |
I612T |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,906,043 (GRCm39) |
M286L |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,545,515 (GRCm39) |
N294K |
probably benign |
Het |
| Tpr |
T |
G |
1: 150,302,644 (GRCm39) |
L1381V |
probably damaging |
Het |
| Trpm8 |
T |
G |
1: 88,254,154 (GRCm39) |
S126A |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,857 (GRCm39) |
Y1075C |
probably damaging |
Het |
| Ubox5 |
C |
T |
2: 130,439,376 (GRCm39) |
G418D |
probably benign |
Het |
| Vmn1r67 |
T |
C |
7: 10,180,907 (GRCm39) |
V57A |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,500 (GRCm39) |
H628R |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,216 (GRCm39) |
I231V |
probably benign |
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 |
|
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'- ACTCTATCAAGACTGCCTCTACCTGAC -3'
(R):5'- GTGCAAATTCCGGCTCACTGAATAAG -3'
Sequencing Primer
(F):5'- TATAAACTGCTAGAGCACCAGTG -3'
(R):5'- gcaacaaaggtaactttatggttgg -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation