Incidental Mutation 'R1593:Fcho2'
| ID |
175636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho2
|
| Ensembl Gene |
ENSMUSG00000041685 |
| Gene Name |
FCH domain only 2 |
| Synonyms |
5832424M12Rik |
| MMRRC Submission |
039630-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1593 (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 98921315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 190
(D190G)
|
| 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: D190G
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: D190G
| 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 |
possibly damaging
Transcript: ENSMUST00000099277
AA Change: D190G
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685
AA Change: D190G
| 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: D190G
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: D190G
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
8 |
94 |
1.74e-19 |
SMART |
|
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179563
AA Change: D190G
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: D190G
| 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 |
possibly damaging
Transcript: ENSMUST00000224992
AA Change: D190G
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225840
AA Change: D190G
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
A |
T |
11: 100,372,581 (GRCm39) |
I902N |
possibly damaging |
Het |
| Acsl6 |
A |
G |
11: 54,214,134 (GRCm39) |
D88G |
probably damaging |
Het |
| Adam1a |
A |
C |
5: 121,657,706 (GRCm39) |
I529S |
probably benign |
Het |
| Ap3b1 |
T |
C |
13: 94,638,435 (GRCm39) |
V838A |
unknown |
Het |
| Arrdc2 |
T |
C |
8: 71,289,764 (GRCm39) |
Y280C |
probably damaging |
Het |
| Atg10 |
T |
C |
13: 91,302,380 (GRCm39) |
T53A |
probably benign |
Het |
| Ccdc136 |
T |
C |
6: 29,415,583 (GRCm39) |
S699P |
probably damaging |
Het |
| Cdc23 |
C |
A |
18: 34,769,379 (GRCm39) |
V462L |
possibly damaging |
Het |
| Clcn6 |
C |
T |
4: 148,099,051 (GRCm39) |
A431T |
probably benign |
Het |
| Cntn6 |
T |
G |
6: 104,809,541 (GRCm39) |
H525Q |
possibly damaging |
Het |
| Ctr9 |
T |
C |
7: 110,642,060 (GRCm39) |
F296S |
possibly damaging |
Het |
| Ctsq |
T |
A |
13: 61,183,986 (GRCm39) |
|
probably null |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Epha6 |
A |
T |
16: 60,245,267 (GRCm39) |
F311I |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,798,582 (GRCm39) |
T150S |
possibly damaging |
Het |
| Exoc2 |
C |
A |
13: 31,040,744 (GRCm39) |
R758L |
possibly damaging |
Het |
| Exosc7 |
G |
C |
9: 122,961,058 (GRCm39) |
V242L |
probably benign |
Het |
| Fgd6 |
T |
C |
10: 93,880,894 (GRCm39) |
S583P |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,477,999 (GRCm39) |
Y60C |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,091,150 (GRCm39) |
I815N |
probably damaging |
Het |
| Grm2 |
A |
T |
9: 106,528,113 (GRCm39) |
L257Q |
probably damaging |
Het |
| Hectd3 |
C |
A |
4: 116,854,217 (GRCm39) |
T289K |
possibly damaging |
Het |
| Itgb4 |
T |
C |
11: 115,871,817 (GRCm39) |
V207A |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,013,104 (GRCm39) |
E443G |
probably damaging |
Het |
| Meis2 |
T |
A |
2: 115,830,745 (GRCm39) |
D256V |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,754,686 (GRCm38) |
N1520S |
probably benign |
Het |
| Nckap1l |
A |
G |
15: 103,387,281 (GRCm39) |
R719G |
probably null |
Het |
| Or6c210 |
A |
T |
10: 129,496,094 (GRCm39) |
R140* |
probably null |
Het |
| Pabpc6 |
A |
T |
17: 9,886,742 (GRCm39) |
M603K |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,486,012 (GRCm39) |
R1862L |
probably benign |
Het |
| Pgap6 |
T |
A |
17: 26,337,381 (GRCm39) |
I399N |
possibly damaging |
Het |
| Pon2 |
T |
C |
6: 5,273,003 (GRCm39) |
D122G |
probably benign |
Het |
| Ppig |
T |
A |
2: 69,579,425 (GRCm39) |
W378R |
unknown |
Het |
| Ralgapa1 |
T |
A |
12: 55,817,488 (GRCm39) |
E389D |
probably damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rarg |
A |
G |
15: 102,148,376 (GRCm39) |
F233L |
probably damaging |
Het |
| Rasgrp2 |
T |
C |
19: 6,453,490 (GRCm39) |
F90L |
possibly damaging |
Het |
| Rrp12 |
T |
A |
19: 41,851,680 (GRCm39) |
H1285L |
probably benign |
Het |
| Slc16a13 |
C |
A |
11: 70,109,908 (GRCm39) |
A198S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,988,059 (GRCm39) |
D441G |
probably damaging |
Het |
| Stxbp5l |
A |
G |
16: 36,936,414 (GRCm39) |
F1099S |
probably damaging |
Het |
| Tex19.1 |
T |
A |
11: 121,038,079 (GRCm39) |
W146R |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,418,445 (GRCm39) |
D197G |
probably benign |
Het |
| Tpp2 |
A |
G |
1: 44,014,593 (GRCm39) |
H644R |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,778,910 (GRCm39) |
V352A |
possibly damaging |
Het |
| Tulp1 |
T |
C |
17: 28,581,675 (GRCm39) |
K233E |
probably damaging |
Het |
| Vsir |
A |
G |
10: 60,193,737 (GRCm39) |
T67A |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,304,248 (GRCm39) |
N487S |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,429,786 (GRCm39) |
N99S |
probably damaging |
Het |
| Zfp583 |
C |
T |
7: 6,320,008 (GRCm39) |
G335S |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,354,675 (GRCm39) |
V98E |
possibly 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 |
|
|
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'- ACCACAGCACTCAAACAGTTCAGTT -3'
(R):5'- ACATTGCTTCCTTACCAGTTTCTCACAG -3'
Sequencing Primer
(F):5'- CAATGTTCACAAATATAAGCATCCTG -3'
(R):5'- cccacagccacctctaac -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation