Incidental Mutation 'R8792:Fcho2'
| ID |
671018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho2
|
| Ensembl Gene |
ENSMUSG00000041685 |
| Gene Name |
FCH domain only 2 |
| Synonyms |
5832424M12Rik |
| MMRRC Submission |
068635-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8792 (G1)
|
| Quality Score |
108.008 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 98951769 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 |
probably benign
Transcript: ENSMUST00000224992
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225840
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
T |
C |
15: 81,793,697 (GRCm39) |
I382T |
probably damaging |
Het |
| Adam39 |
G |
T |
8: 41,279,613 (GRCm39) |
R668L |
probably benign |
Het |
| Adam6b |
T |
C |
12: 113,455,310 (GRCm39) |
I709T |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,836,522 (GRCm39) |
E692G |
probably damaging |
Het |
| Asxl2 |
T |
C |
12: 3,546,536 (GRCm39) |
L440P |
probably benign |
Het |
| Atosb |
G |
A |
4: 43,033,546 (GRCm39) |
P536S |
probably damaging |
Het |
| Bmf |
A |
G |
2: 118,377,386 (GRCm39) |
F121L |
probably damaging |
Het |
| Cblif |
C |
A |
19: 11,727,599 (GRCm39) |
A141E |
probably damaging |
Het |
| Cdk9 |
A |
T |
2: 32,598,269 (GRCm39) |
F262L |
probably benign |
Het |
| Clock |
T |
A |
5: 76,410,574 (GRCm39) |
D99V |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,642,189 (GRCm39) |
T102S |
|
Het |
| Eps15 |
T |
C |
4: 109,162,908 (GRCm39) |
V67A |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,643,103 (GRCm39) |
L4H |
probably damaging |
Het |
| Gal3st4 |
C |
T |
5: 138,269,251 (GRCm39) |
V70M |
probably damaging |
Het |
| Garin2 |
C |
T |
12: 78,761,924 (GRCm39) |
T196M |
probably damaging |
Het |
| Got1l1 |
C |
A |
8: 27,690,749 (GRCm39) |
|
probably null |
Het |
| Gpr146 |
A |
G |
5: 139,378,549 (GRCm39) |
Y117C |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,558,137 (GRCm39) |
V346M |
probably damaging |
Het |
| Herc1 |
C |
A |
9: 66,372,768 (GRCm39) |
P3108Q |
probably damaging |
Het |
| Hoxc9 |
A |
G |
15: 102,890,226 (GRCm39) |
S48G |
probably benign |
Het |
| I830077J02Rik |
T |
C |
3: 105,835,104 (GRCm39) |
|
probably benign |
Het |
| Ift70a1 |
C |
A |
2: 75,811,898 (GRCm39) |
E62* |
probably null |
Het |
| Lama4 |
T |
G |
10: 38,924,048 (GRCm39) |
I485M |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,325,300 (GRCm39) |
T1375I |
possibly damaging |
Het |
| Lrp6 |
T |
C |
6: 134,463,549 (GRCm39) |
Y544C |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,821,773 (GRCm39) |
Q692* |
probably null |
Het |
| Mark2 |
G |
T |
19: 7,258,580 (GRCm39) |
H570N |
probably benign |
Het |
| Mlph |
T |
C |
1: 90,870,682 (GRCm39) |
|
probably benign |
Het |
| Mnx1 |
G |
A |
5: 29,683,372 (GRCm39) |
|
probably benign |
Het |
| Nkx2-2 |
A |
T |
2: 147,019,813 (GRCm39) |
V208E |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,050,919 (GRCm39) |
I1058V |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,963,047 (GRCm39) |
I877T |
probably damaging |
Het |
| Olfml2b |
A |
T |
1: 170,508,669 (GRCm39) |
N509I |
possibly damaging |
Het |
| Or1e27-ps1 |
T |
C |
11: 73,555,471 (GRCm39) |
L12P |
probably damaging |
Het |
| Or4c121 |
T |
C |
2: 89,024,231 (GRCm39) |
Y49C |
probably benign |
Het |
| Or4f14b |
G |
C |
2: 111,775,073 (GRCm39) |
H243D |
probably damaging |
Het |
| Pabpc6 |
T |
C |
17: 9,888,332 (GRCm39) |
N73S |
probably damaging |
Het |
| Parp12 |
A |
G |
6: 39,065,984 (GRCm39) |
F580L |
probably benign |
Het |
| Parvg |
C |
A |
15: 84,213,160 (GRCm39) |
H80Q |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,541 (GRCm39) |
V549A |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,179,534 (GRCm39) |
H374L |
probably benign |
Het |
| Pgap4 |
T |
C |
4: 49,587,067 (GRCm39) |
T34A |
possibly damaging |
Het |
| Phf2 |
C |
T |
13: 48,970,981 (GRCm39) |
|
probably benign |
Het |
| Pld4 |
T |
C |
12: 112,729,924 (GRCm39) |
F69L |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,347,456 (GRCm39) |
I1123V |
unknown |
Het |
| Rida |
C |
T |
15: 34,495,242 (GRCm39) |
V8M |
possibly damaging |
Het |
| Rnf19b |
T |
A |
4: 128,952,478 (GRCm39) |
C139S |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,095,091 (GRCm39) |
I1254M |
unknown |
Het |
| Rpl3l |
A |
G |
17: 24,947,447 (GRCm39) |
T2A |
possibly damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,022,942 (GRCm39) |
I147N |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,673,390 (GRCm39) |
T727I |
probably damaging |
Het |
| Slc25a16 |
C |
T |
10: 62,764,119 (GRCm39) |
R59* |
probably null |
Het |
| Strc |
T |
A |
2: 121,208,286 (GRCm39) |
I362F |
probably damaging |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
17: 51,106,962 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,538,499 (GRCm39) |
T382S |
probably damaging |
Het |
| Tmprss6 |
T |
A |
15: 78,328,328 (GRCm39) |
D556V |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,401,099 (GRCm39) |
|
probably null |
Het |
| Usp43 |
T |
A |
11: 67,767,244 (GRCm39) |
K709* |
probably null |
Het |
| Vcan |
A |
T |
13: 89,840,230 (GRCm39) |
N1771K |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,659,669 (GRCm39) |
I81V |
probably benign |
Het |
| Zxdc |
A |
G |
6: 90,346,986 (GRCm39) |
T116A |
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 |
|
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 |
|
|
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'- TCTCCACGAAATGCGCCATG -3'
(R):5'- AGATCCTAGAAGGCCAGGAC -3'
Sequencing Primer
(F):5'- GAAATGCGCCATGACCATCTTG -3'
(R):5'- GCGTGGCCCTATTAGCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation