Incidental Mutation 'R9433:Fcho1'
| ID |
713104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho1
|
| Ensembl Gene |
ENSMUSG00000070000 |
| Gene Name |
FCH domain only 1 |
| Synonyms |
3322402E17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R9433 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72161031-72178360 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72169468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 146
(M146K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000125092]
[ENSMUST00000136640]
[ENSMUST00000146100]
[ENSMUST00000153800]
|
| AlphaFold |
Q8K285 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093444
AA Change: M146K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: M146K
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
576 |
N/A |
INTRINSIC |
|
Pfam:muHD
|
610 |
872 |
4.9e-59 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123425
|
| SMART Domains |
Protein: ENSMUSP00000123631
Gene: ENSMUSG00000070000
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
70 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125092
|
| SMART Domains |
Protein: ENSMUSP00000123554
Gene: ENSMUSG00000070000
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
88 |
7.62e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136640
AA Change: M146K
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000119273
Gene: ENSMUSG00000070000
AA Change: M146K
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146100
AA Change: M146K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: M146K
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
576 |
N/A |
INTRINSIC |
|
Pfam:muHD
|
610 |
872 |
1.4e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153800
AA Change: M146K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000116135
Gene: ENSMUSG00000070000
AA Change: M146K
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,714,471 (GRCm39) |
F937L |
probably benign |
Het |
| Adipor2 |
A |
T |
6: 119,336,486 (GRCm39) |
F159Y |
probably damaging |
Het |
| Ahcyl1 |
A |
G |
3: 107,575,645 (GRCm39) |
V380A |
probably damaging |
Het |
| Akp3 |
A |
G |
1: 87,053,517 (GRCm39) |
K157E |
probably benign |
Het |
| Arpc1a |
T |
A |
5: 145,045,203 (GRCm39) |
I364N |
possibly damaging |
Het |
| Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
| Brms1l |
G |
A |
12: 55,912,863 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
G |
2: 5,680,777 (GRCm39) |
S6P |
unknown |
Het |
| Ccdc112 |
C |
A |
18: 46,424,040 (GRCm39) |
V233L |
probably benign |
Het |
| Ccdc113 |
A |
T |
8: 96,272,613 (GRCm39) |
N240I |
possibly damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,095,668 (GRCm39) |
V1810E |
possibly damaging |
Het |
| Ccdc6 |
T |
C |
10: 70,004,951 (GRCm39) |
V232A |
possibly damaging |
Het |
| Cct5 |
A |
G |
15: 31,592,883 (GRCm39) |
I409T |
possibly damaging |
Het |
| Cd96 |
A |
G |
16: 45,856,298 (GRCm39) |
Y583H |
probably damaging |
Het |
| Cdh22 |
C |
T |
2: 164,954,329 (GRCm39) |
V731M |
probably benign |
Het |
| Clcn1 |
C |
T |
6: 42,282,494 (GRCm39) |
P521S |
probably damaging |
Het |
| Clec18a |
C |
T |
8: 111,808,322 (GRCm39) |
A27T |
probably benign |
Het |
| Cnnm2 |
C |
T |
19: 46,750,807 (GRCm39) |
A199V |
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,880,478 (GRCm39) |
A494T |
possibly damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,948,252 (GRCm39) |
E16G |
probably damaging |
Het |
| Cyp2j5 |
T |
A |
4: 96,552,244 (GRCm39) |
I2F |
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,384,065 (GRCm39) |
N463Y |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,976,007 (GRCm39) |
D2804G |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,792,995 (GRCm39) |
N488D |
probably benign |
Het |
| Etv5 |
G |
A |
16: 22,254,668 (GRCm39) |
P64L |
probably damaging |
Het |
| Fbrs |
A |
G |
7: 127,084,272 (GRCm39) |
E468G |
probably benign |
Het |
| Gad1 |
A |
T |
2: 70,423,807 (GRCm39) |
M405L |
|
Het |
| Gcc2 |
T |
A |
10: 58,106,592 (GRCm39) |
H609Q |
probably benign |
Het |
| Gm11983 |
A |
T |
11: 6,786,902 (GRCm39) |
M75K |
unknown |
Het |
| Gm4353 |
T |
A |
7: 115,682,871 (GRCm39) |
I237F |
probably damaging |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hcn4 |
A |
G |
9: 58,731,222 (GRCm39) |
D143G |
unknown |
Het |
| Id1 |
T |
A |
2: 152,578,430 (GRCm39) |
V57D |
probably damaging |
Het |
| Ifna13 |
T |
C |
4: 88,562,540 (GRCm39) |
Q28R |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Lonrf2 |
G |
A |
1: 38,875,538 (GRCm39) |
|
probably benign |
Het |
| Magi3 |
C |
T |
3: 103,922,473 (GRCm39) |
A1415T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,148,371 (GRCm39) |
E77G |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,483,937 (GRCm39) |
Q6945L |
probably benign |
Het |
| Nos2 |
G |
A |
11: 78,850,490 (GRCm39) |
R1116H |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,795,224 (GRCm39) |
C305Y |
probably benign |
Het |
| Parpbp |
A |
C |
10: 87,975,858 (GRCm39) |
V85G |
probably benign |
Het |
| Pcmtd2 |
C |
T |
2: 181,496,837 (GRCm39) |
H273Y |
possibly damaging |
Het |
| Pcp4l1 |
C |
T |
1: 171,001,998 (GRCm39) |
G54D |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,704,070 (GRCm39) |
H622R |
probably benign |
Het |
| Plxnd1 |
G |
T |
6: 115,945,754 (GRCm39) |
D906E |
probably benign |
Het |
| Pnpla8 |
T |
C |
12: 44,330,305 (GRCm39) |
S286P |
probably damaging |
Het |
| Prss36 |
C |
T |
7: 127,533,339 (GRCm39) |
V631I |
probably benign |
Het |
| Ptpn9 |
A |
T |
9: 56,964,010 (GRCm39) |
N381I |
possibly damaging |
Het |
| Ranbp9 |
A |
T |
13: 43,576,041 (GRCm39) |
I222N |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,092,173 (GRCm39) |
T1249A |
probably damaging |
Het |
| Ripply2 |
G |
T |
9: 86,901,715 (GRCm39) |
W80C |
probably damaging |
Het |
| Rnaseh2b |
C |
A |
14: 62,602,722 (GRCm39) |
P235Q |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,443,997 (GRCm39) |
F2014L |
probably damaging |
Het |
| Serpinb9f |
A |
G |
13: 33,518,238 (GRCm39) |
N246S |
probably benign |
Het |
| Sh3pxd2a |
A |
T |
19: 47,255,539 (GRCm39) |
S1088T |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skint3 |
A |
G |
4: 112,137,432 (GRCm39) |
I367V |
probably benign |
Het |
| Slc20a2 |
G |
T |
8: 23,051,211 (GRCm39) |
E415* |
probably null |
Het |
| Slc5a1 |
T |
A |
5: 33,310,025 (GRCm39) |
S418T |
probably benign |
Het |
| Spats2 |
G |
T |
15: 99,076,446 (GRCm39) |
G175* |
probably null |
Het |
| Srebf1 |
A |
T |
11: 60,095,015 (GRCm39) |
F485L |
possibly damaging |
Het |
| St8sia4 |
A |
G |
1: 95,555,364 (GRCm39) |
V222A |
|
Het |
| Stab1 |
C |
T |
14: 30,865,531 (GRCm39) |
E1786K |
probably benign |
Het |
| Stat2 |
A |
G |
10: 128,112,657 (GRCm39) |
M58V |
probably benign |
Het |
| Stat5a |
A |
G |
11: 100,765,870 (GRCm39) |
T319A |
probably benign |
Het |
| Sufu |
A |
G |
19: 46,385,532 (GRCm39) |
|
probably benign |
Het |
| Tle6 |
T |
A |
10: 81,426,880 (GRCm39) |
I579F |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,845,459 (GRCm39) |
D390E |
probably benign |
Het |
| Trim33 |
T |
A |
3: 103,228,979 (GRCm39) |
|
probably null |
Het |
| Usp54 |
A |
G |
14: 20,611,678 (GRCm39) |
V1046A |
probably benign |
Het |
| Vit |
G |
A |
17: 78,932,413 (GRCm39) |
G507R |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,695,590 (GRCm39) |
I274T |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,804,917 (GRCm39) |
K65M |
possibly damaging |
Het |
| Vmn2r86 |
C |
T |
10: 130,282,567 (GRCm39) |
G683E |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,335,871 (GRCm39) |
|
probably null |
Het |
| Zdhhc14 |
A |
G |
17: 5,781,779 (GRCm39) |
D333G |
probably benign |
Het |
| Zup1 |
G |
A |
10: 33,795,355 (GRCm39) |
S568L |
probably damaging |
Het |
|
| Other mutations in Fcho1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Fcho1
|
APN |
8 |
72,166,167 (GRCm39) |
nonsense |
probably null |
|
|
IGL01291:Fcho1
|
APN |
8 |
72,165,191 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01473:Fcho1
|
APN |
8 |
72,164,782 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02021:Fcho1
|
APN |
8 |
72,173,919 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02086:Fcho1
|
APN |
8 |
72,169,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02808:Fcho1
|
APN |
8 |
72,165,185 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03146:Fcho1
|
APN |
8 |
72,170,074 (GRCm39) |
splice site |
probably benign |
|
|
IGL03267:Fcho1
|
APN |
8 |
72,164,943 (GRCm39) |
unclassified |
probably benign |
|
|
cameo
|
UTSW |
8 |
72,169,507 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Lesser
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
Sidekick
|
UTSW |
8 |
72,168,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU05:Fcho1
|
UTSW |
8 |
72,165,191 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0003:Fcho1
|
UTSW |
8 |
72,161,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Fcho1
|
UTSW |
8 |
72,162,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Fcho1
|
UTSW |
8 |
72,169,514 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0363:Fcho1
|
UTSW |
8 |
72,170,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0457:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0485:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0501:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0502:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0551:Fcho1
|
UTSW |
8 |
72,164,818 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0583:Fcho1
|
UTSW |
8 |
72,168,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0584:Fcho1
|
UTSW |
8 |
72,168,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0585:Fcho1
|
UTSW |
8 |
72,168,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Fcho1
|
UTSW |
8 |
72,168,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0647:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0841:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0842:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1034:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1036:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1399:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Fcho1
|
UTSW |
8 |
72,165,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1618:Fcho1
|
UTSW |
8 |
72,163,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1754:Fcho1
|
UTSW |
8 |
72,163,890 (GRCm39) |
missense |
probably benign |
|
|
R1793:Fcho1
|
UTSW |
8 |
72,161,666 (GRCm39) |
nonsense |
probably null |
|
|
R2073:Fcho1
|
UTSW |
8 |
72,163,133 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2177:Fcho1
|
UTSW |
8 |
72,164,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4072:Fcho1
|
UTSW |
8 |
72,163,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4074:Fcho1
|
UTSW |
8 |
72,163,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4076:Fcho1
|
UTSW |
8 |
72,163,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4606:Fcho1
|
UTSW |
8 |
72,165,124 (GRCm39) |
missense |
probably benign |
|
|
R4732:Fcho1
|
UTSW |
8 |
72,169,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4733:Fcho1
|
UTSW |
8 |
72,169,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Fcho1
|
UTSW |
8 |
72,163,125 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4860:Fcho1
|
UTSW |
8 |
72,163,125 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5082:Fcho1
|
UTSW |
8 |
72,169,829 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5083:Fcho1
|
UTSW |
8 |
72,169,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5185:Fcho1
|
UTSW |
8 |
72,167,600 (GRCm39) |
unclassified |
probably benign |
|
|
R6025:Fcho1
|
UTSW |
8 |
72,165,217 (GRCm39) |
splice site |
probably null |
|
|
R6624:Fcho1
|
UTSW |
8 |
72,162,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6875:Fcho1
|
UTSW |
8 |
72,167,069 (GRCm39) |
splice site |
probably null |
|
|
R7069:Fcho1
|
UTSW |
8 |
72,163,141 (GRCm39) |
splice site |
probably null |
|
|
R7476:Fcho1
|
UTSW |
8 |
72,166,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Fcho1
|
UTSW |
8 |
72,169,507 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7951:Fcho1
|
UTSW |
8 |
72,164,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8699:Fcho1
|
UTSW |
8 |
72,162,277 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8938:Fcho1
|
UTSW |
8 |
72,169,790 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9090:Fcho1
|
UTSW |
8 |
72,163,068 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9117:Fcho1
|
UTSW |
8 |
72,164,712 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9119:Fcho1
|
UTSW |
8 |
72,164,712 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9271:Fcho1
|
UTSW |
8 |
72,163,068 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9447:Fcho1
|
UTSW |
8 |
72,169,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTTATCCACAGAGCGCCGC -3'
(R):5'- GCATGCATGAGAGCCACAAC -3'
Sequencing Primer
(F):5'- GTCGGCAGCCTTCTTGC -3'
(R):5'- AACCCAGCCTCTCCGGAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation