Incidental Mutation 'R7168:Fcho2'
| ID |
558078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho2
|
| Ensembl Gene |
ENSMUSG00000041685 |
| Gene Name |
FCH domain only 2 |
| Synonyms |
5832424M12Rik |
| MMRRC Submission |
045263-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7168 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98925971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 132
(I132T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042959
(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: I132T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: I132T
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685
AA Change: I132T
| 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: I132T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: I132T
| 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: I132T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: I132T
| 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
AA Change: I132T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225840
AA Change: I132T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,262,831 (GRCm39) |
D1388V |
probably damaging |
Het |
| 2900026A02Rik |
C |
A |
5: 113,285,659 (GRCm39) |
R65L |
probably damaging |
Het |
| Abcb10 |
A |
T |
8: 124,693,350 (GRCm39) |
L318Q |
|
Het |
| Abhd18 |
T |
A |
3: 40,889,371 (GRCm39) |
V417D |
probably damaging |
Het |
| Actl7a |
A |
G |
4: 56,743,769 (GRCm39) |
K99E |
probably benign |
Het |
| Adam2 |
A |
T |
14: 66,296,241 (GRCm39) |
I206N |
possibly damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,545,328 (GRCm39) |
S5652R |
possibly damaging |
Het |
| Aebp2 |
C |
T |
6: 140,579,426 (GRCm39) |
T221M |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 20,893,831 (GRCm39) |
M854K |
probably benign |
Het |
| Alpi |
T |
A |
1: 87,027,155 (GRCm39) |
T375S |
possibly damaging |
Het |
| Apip |
T |
A |
2: 102,922,813 (GRCm39) |
C210* |
probably null |
Het |
| Arid3b |
A |
T |
9: 57,712,818 (GRCm39) |
D232E |
probably benign |
Het |
| Asic5 |
G |
A |
3: 81,919,282 (GRCm39) |
C342Y |
probably damaging |
Het |
| BC035947 |
T |
C |
1: 78,476,230 (GRCm39) |
M101V |
probably benign |
Het |
| Brd3 |
G |
A |
2: 27,344,411 (GRCm39) |
R440C |
possibly damaging |
Het |
| Deaf1 |
C |
T |
7: 140,904,509 (GRCm39) |
|
probably benign |
Het |
| Eif2ak3 |
A |
G |
6: 70,858,610 (GRCm39) |
T300A |
probably benign |
Het |
| Eml6 |
T |
A |
11: 29,788,529 (GRCm39) |
I519F |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,034,808 (GRCm39) |
F2820S |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,885,090 (GRCm39) |
V810A |
probably damaging |
Het |
| Gm14403 |
A |
C |
2: 177,201,318 (GRCm39) |
Q179P |
probably damaging |
Het |
| Gm3127 |
A |
G |
14: 15,432,250 (GRCm39) |
M251V |
probably benign |
Het |
| Hook3 |
A |
G |
8: 26,561,114 (GRCm39) |
S298P |
probably benign |
Het |
| Impact |
T |
A |
18: 13,119,370 (GRCm39) |
|
probably null |
Het |
| Itgal |
T |
C |
7: 126,929,385 (GRCm39) |
F1101L |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,656,064 (GRCm39) |
R579Q |
probably null |
Het |
| Kansl2 |
T |
C |
15: 98,427,425 (GRCm39) |
|
probably null |
Het |
| Kng1 |
A |
G |
16: 22,898,391 (GRCm39) |
D597G |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,836,332 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
T |
10: 27,242,148 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
G |
T |
17: 75,598,361 (GRCm39) |
C614F |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,190,810 (GRCm39) |
E168G |
unknown |
Het |
| Lvrn |
A |
C |
18: 47,014,389 (GRCm39) |
K525T |
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,719,184 (GRCm39) |
R2249H |
probably damaging |
Het |
| Mmp16 |
G |
T |
4: 18,110,550 (GRCm39) |
G449C |
probably damaging |
Het |
| Mst1r |
T |
C |
9: 107,785,392 (GRCm39) |
V350A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,417,754 (GRCm39) |
M3567V |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,748,513 (GRCm39) |
L361Q |
probably damaging |
Het |
| Myom1 |
T |
A |
17: 71,396,942 (GRCm39) |
S1063R |
probably benign |
Het |
| Notch4 |
A |
C |
17: 34,791,667 (GRCm39) |
H582P |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,964,837 (GRCm39) |
C1474S |
probably benign |
Het |
| Or10ak14 |
A |
T |
4: 118,611,048 (GRCm39) |
I231N |
probably damaging |
Het |
| Or4g17 |
A |
T |
2: 111,210,224 (GRCm39) |
D293V |
probably damaging |
Het |
| Or5d36 |
A |
C |
2: 87,900,921 (GRCm39) |
N268K |
probably benign |
Het |
| Or8b40 |
G |
T |
9: 38,027,959 (GRCm39) |
S294I |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,513,946 (GRCm39) |
V241D |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,736,622 (GRCm39) |
N654K |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,607,446 (GRCm39) |
G121D |
probably damaging |
Het |
| Ptch1 |
A |
G |
13: 63,659,874 (GRCm39) |
S1260P |
probably benign |
Het |
| Pwp1 |
G |
T |
10: 85,720,401 (GRCm39) |
R346I |
probably damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,144,232 (GRCm39) |
T800I |
probably benign |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
| Resf1 |
T |
G |
6: 149,229,341 (GRCm39) |
F796V |
probably benign |
Het |
| Slc1a3 |
G |
T |
15: 8,675,386 (GRCm39) |
N206K |
possibly damaging |
Het |
| Slc6a3 |
T |
C |
13: 73,719,591 (GRCm39) |
V540A |
probably benign |
Het |
| Sntb1 |
G |
A |
15: 55,654,661 (GRCm39) |
P265S |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,749 (GRCm39) |
V139A |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,965,753 (GRCm39) |
E437G |
probably damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,343,674 (GRCm39) |
V56E |
probably benign |
Het |
| Trhr2 |
T |
A |
8: 123,087,276 (GRCm39) |
T55S |
probably damaging |
Het |
| Trim17 |
T |
G |
11: 58,859,404 (GRCm39) |
V206G |
probably benign |
Het |
| Trpm1 |
A |
G |
7: 63,918,445 (GRCm39) |
N1479S |
probably benign |
Het |
| Trpv2 |
T |
A |
11: 62,473,914 (GRCm39) |
C190S |
probably benign |
Het |
| Umod |
A |
T |
7: 119,077,549 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,414,585 (GRCm39) |
Y2862N |
|
Het |
| Vmn1r158 |
A |
G |
7: 22,490,101 (GRCm39) |
V36A |
possibly damaging |
Het |
| Zfp420 |
A |
G |
7: 29,574,791 (GRCm39) |
Y337C |
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 |
|
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 |
|
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'- TTGTTCAGTCAGCAACAACATACAC -3'
(R):5'- GGTTGAGCAGTTGCATAGTAAATG -3'
Sequencing Primer
(F):5'- TGCAATCCTGGTACTGAAGC -3'
(R):5'- CAATGCTATCCCAAAAGTTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation