Incidental Mutation 'R0087:Fcho2'
ID |
19977 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcho2
|
Ensembl Gene |
ENSMUSG00000041685 |
Gene Name |
FCH domain only 2 |
Synonyms |
5832424M12Rik |
MMRRC Submission |
038374-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0087 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
13 |
Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 98871594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 541
(T541A)
|
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: T541A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000042959 Gene: ENSMUSG00000041685 AA Change: T541A
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: ENSMUST00000225686
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225945
|
Meta Mutation Damage Score |
0.0967 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.5%
- 20x: 82.3%
|
Validation Efficiency |
86% (59/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,535,070 (GRCm39) |
I5732F |
probably damaging |
Het |
Adss2 |
A |
T |
1: 177,598,788 (GRCm39) |
V330E |
probably benign |
Het |
Agps |
T |
A |
2: 75,739,979 (GRCm39) |
Y488N |
probably damaging |
Het |
Ap3s1 |
A |
T |
18: 46,891,106 (GRCm39) |
R66S |
probably damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Atp2a2 |
C |
T |
5: 122,599,024 (GRCm39) |
V593I |
probably benign |
Het |
Chrna6 |
C |
T |
8: 27,897,014 (GRCm39) |
V288M |
probably damaging |
Het |
Col4a2 |
C |
T |
8: 11,491,296 (GRCm39) |
L1232F |
probably benign |
Het |
Dcaf1 |
A |
G |
9: 106,740,288 (GRCm39) |
N1225D |
probably damaging |
Het |
Degs1 |
A |
G |
1: 182,106,875 (GRCm39) |
I128T |
probably benign |
Het |
Dnaaf11 |
T |
C |
15: 66,341,824 (GRCm39) |
T91A |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,350,759 (GRCm39) |
T2594S |
probably damaging |
Het |
Dnah8 |
G |
T |
17: 30,974,093 (GRCm39) |
R2826L |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,875 (GRCm39) |
Y104H |
probably damaging |
Het |
Fam222b |
C |
A |
11: 78,044,718 (GRCm39) |
T93N |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,554,006 (GRCm39) |
I211T |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,109,738 (GRCm39) |
S589P |
unknown |
Het |
Foxj3 |
T |
A |
4: 119,483,597 (GRCm39) |
V589E |
unknown |
Het |
Gria1 |
A |
G |
11: 57,208,538 (GRCm39) |
Y742C |
probably damaging |
Het |
Inpp5d |
T |
C |
1: 87,642,860 (GRCm39) |
S672P |
probably damaging |
Het |
Lrrc19 |
A |
C |
4: 94,529,009 (GRCm39) |
F91C |
probably damaging |
Het |
Mppe1 |
A |
G |
18: 67,358,775 (GRCm39) |
*398R |
probably null |
Het |
Mroh3 |
T |
C |
1: 136,118,541 (GRCm39) |
I561V |
probably benign |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,998,444 (GRCm39) |
T121K |
possibly damaging |
Het |
Nbr1 |
A |
C |
11: 101,455,519 (GRCm39) |
D91A |
probably benign |
Het |
Ncam2 |
C |
A |
16: 81,231,789 (GRCm39) |
N84K |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,475 (GRCm39) |
Y118H |
probably damaging |
Het |
Or51ac3 |
A |
T |
7: 103,213,569 (GRCm39) |
C306S |
probably benign |
Het |
Or52h9 |
A |
G |
7: 104,202,869 (GRCm39) |
I248V |
possibly damaging |
Het |
Or52z13 |
A |
G |
7: 103,246,928 (GRCm39) |
Y135C |
probably benign |
Het |
Or6b6 |
A |
G |
7: 106,571,323 (GRCm39) |
V76A |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,194,585 (GRCm39) |
I121F |
probably damaging |
Het |
Peak1 |
A |
T |
9: 56,165,609 (GRCm39) |
I773N |
probably damaging |
Het |
Pfkfb4 |
G |
T |
9: 108,836,769 (GRCm39) |
V155F |
probably damaging |
Het |
Pkm |
C |
T |
9: 59,585,382 (GRCm39) |
R455* |
probably null |
Het |
Plbd2 |
C |
A |
5: 120,632,550 (GRCm39) |
E151* |
probably null |
Het |
Pld5 |
G |
A |
1: 175,812,025 (GRCm39) |
T353M |
probably damaging |
Het |
Psme2b |
A |
T |
11: 48,836,544 (GRCm39) |
D134E |
possibly damaging |
Het |
Rida |
T |
A |
15: 34,488,772 (GRCm39) |
D40V |
possibly damaging |
Het |
Rnf126 |
A |
T |
10: 79,595,068 (GRCm39) |
H265Q |
probably damaging |
Het |
Rock2 |
C |
A |
12: 16,978,967 (GRCm39) |
Q86K |
probably benign |
Het |
Serpinb1b |
A |
T |
13: 33,269,302 (GRCm39) |
T12S |
probably benign |
Het |
Slco6c1 |
T |
A |
1: 97,046,303 (GRCm39) |
Q277L |
probably benign |
Het |
Spmap2 |
A |
T |
10: 79,421,785 (GRCm39) |
Y144* |
probably null |
Het |
Sptlc2 |
T |
A |
12: 87,415,892 (GRCm39) |
H45L |
probably benign |
Het |
Srsf4 |
A |
G |
4: 131,627,641 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,454,719 (GRCm39) |
S2969G |
probably damaging |
Het |
Steap1 |
C |
T |
5: 5,786,664 (GRCm39) |
G258R |
probably damaging |
Het |
Stk19 |
A |
T |
17: 35,055,851 (GRCm39) |
M1K |
probably null |
Het |
Stk-ps2 |
C |
A |
1: 46,069,049 (GRCm39) |
|
noncoding transcript |
Het |
Taf1c |
C |
T |
8: 120,327,726 (GRCm39) |
R332H |
probably damaging |
Het |
Thbs4 |
T |
A |
13: 92,891,743 (GRCm39) |
T791S |
probably damaging |
Het |
Tjap1 |
A |
G |
17: 46,574,652 (GRCm39) |
L21P |
probably damaging |
Het |
Tmem145 |
A |
G |
7: 25,007,268 (GRCm39) |
Y148C |
probably damaging |
Het |
Tmem267 |
T |
A |
13: 120,070,810 (GRCm39) |
V155E |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,956,076 (GRCm39) |
H549L |
possibly damaging |
Het |
Tyro3 |
T |
G |
2: 119,632,182 (GRCm39) |
I83S |
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn1r53 |
A |
T |
6: 90,200,413 (GRCm39) |
C304S |
probably benign |
Het |
Vwf |
G |
A |
6: 125,622,917 (GRCm39) |
M1761I |
probably benign |
Het |
Zfp276 |
T |
C |
8: 123,991,786 (GRCm39) |
Y445H |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,578,536 (GRCm39) |
I859N |
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 |
|
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 |
|
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'- cacacacacacaTATAGCCAACTACACA -3'
(R):5'- GGTCTGACACCAAGCGGTCCAA -3'
Sequencing Primer
(F):5'- CACCTAACACAAGTGCTGATGT -3'
(R):5'- gatctgatgacctcttctggtg -3'
|
Posted On |
2013-04-11 |