Incidental Mutation 'R7533:Fcho2'
ID |
583427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcho2
|
Ensembl Gene |
ENSMUSG00000041685 |
Gene Name |
FCH domain only 2 |
Synonyms |
5832424M12Rik |
MMRRC Submission |
045605-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7533 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 98921307 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 193
(Q193K)
|
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: Q193K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000042959 Gene: ENSMUSG00000041685 AA Change: Q193K
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: Q193K
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: Q193K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105030 Gene: ENSMUSG00000041685 AA Change: Q193K
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: Q193K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000137422 Gene: ENSMUSG00000041685 AA Change: Q193K
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: Q193K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225840
AA Change: Q193K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0664 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agr2 |
T |
C |
12: 36,046,128 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
T |
18: 65,437,674 (GRCm39) |
S1240T |
probably damaging |
Het |
Atp8b2 |
G |
A |
3: 89,852,831 (GRCm39) |
L144F |
|
Het |
Cck |
T |
C |
9: 121,319,201 (GRCm39) |
D94G |
probably damaging |
Het |
Ccser1 |
A |
T |
6: 61,615,474 (GRCm39) |
T659S |
probably benign |
Het |
Cfap74 |
C |
A |
4: 155,500,200 (GRCm39) |
D15E |
|
Het |
Commd5 |
G |
A |
15: 76,784,776 (GRCm39) |
A58T |
probably benign |
Het |
Dctn2 |
A |
G |
10: 127,103,347 (GRCm39) |
D34G |
possibly damaging |
Het |
Ecpas |
T |
C |
4: 58,809,411 (GRCm39) |
I1654M |
probably benign |
Het |
Epha6 |
T |
C |
16: 60,025,925 (GRCm39) |
T506A |
probably damaging |
Het |
Fat4 |
A |
C |
3: 39,061,406 (GRCm39) |
I4330L |
probably benign |
Het |
Hace1 |
A |
T |
10: 45,587,570 (GRCm39) |
I890L |
probably benign |
Het |
Igsf11 |
T |
G |
16: 38,829,236 (GRCm39) |
N102K |
probably benign |
Het |
Il7r |
G |
A |
15: 9,508,047 (GRCm39) |
S425L |
probably benign |
Het |
Itga3 |
G |
T |
11: 94,937,344 (GRCm39) |
Q1011K |
probably benign |
Het |
Kif3c |
T |
A |
12: 3,416,510 (GRCm39) |
I177N |
probably damaging |
Het |
Neb |
G |
A |
2: 52,114,578 (GRCm39) |
A1048V |
|
Het |
Neu4 |
C |
T |
1: 93,950,122 (GRCm39) |
T27M |
probably benign |
Het |
Or52b3 |
T |
C |
7: 102,203,718 (GRCm39) |
S76P |
probably damaging |
Het |
P4htm |
T |
C |
9: 108,474,136 (GRCm39) |
H134R |
probably benign |
Het |
Padi6 |
T |
C |
4: 140,458,506 (GRCm39) |
D462G |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,115,525 (GRCm39) |
D1375G |
|
Het |
Ptgr1 |
C |
T |
4: 58,971,011 (GRCm39) |
R247H |
possibly damaging |
Het |
Rad50 |
T |
C |
11: 53,589,746 (GRCm39) |
N152D |
probably damaging |
Het |
Serpina1c |
T |
A |
12: 103,863,566 (GRCm39) |
K211N |
probably damaging |
Het |
Sgsh |
T |
C |
11: 119,238,696 (GRCm39) |
E256G |
probably damaging |
Het |
Tnrc6b |
T |
C |
15: 80,811,942 (GRCm39) |
|
probably null |
Het |
Ube3d |
A |
G |
9: 86,304,990 (GRCm39) |
F284S |
probably damaging |
Het |
Usp13 |
A |
G |
3: 32,973,091 (GRCm39) |
D757G |
probably damaging |
Het |
Vmn1r173 |
C |
T |
7: 23,402,071 (GRCm39) |
A102V |
probably benign |
Het |
Vmn2r29 |
G |
T |
7: 7,244,656 (GRCm39) |
A406D |
probably damaging |
Het |
Wdfy3 |
G |
A |
5: 102,030,354 (GRCm39) |
R2385C |
probably benign |
Het |
Zfp112 |
A |
T |
7: 23,824,752 (GRCm39) |
K244M |
possibly damaging |
Het |
Zfp61 |
T |
C |
7: 23,990,504 (GRCm39) |
Q549R |
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 |
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'- ACTCGCACTCTGCCATGTTG -3'
(R):5'- AGAGTCCATGTTTGATTCCTGAG -3'
Sequencing Primer
(F):5'- TTGGCCTCCACCTCCCAAAC -3'
(R):5'- ACTCTGCTGTCAAGAGATCTGATGC -3'
|
Posted On |
2019-10-17 |