Incidental Mutation 'R4074:Fcho1'
| ID |
316471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho1
|
| Ensembl Gene |
ENSMUSG00000070000 |
| Gene Name |
FCH domain only 1 |
| Synonyms |
3322402E17Rik |
| MMRRC Submission |
040855-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R4074 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71708387-71725716 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71710369 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 672
(H672R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117606
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093444]
[ENSMUST00000136640]
[ENSMUST00000146100]
|
| AlphaFold |
Q8K285 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093444
AA Change: H672R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091151
Gene: ENSMUSG00000070000
AA Change: H672R
| 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 |
noncoding transcript
Transcript: ENSMUST00000127005
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136640
|
| SMART Domains |
Protein: ENSMUSP00000119273
Gene: ENSMUSG00000070000
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
6 |
92 |
2.05e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143699
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146100
AA Change: H672R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117606
Gene: ENSMUSG00000070000
AA Change: H672R
| 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 |
noncoding transcript
Transcript: ENSMUST00000149363
|
| Meta Mutation Damage Score |
0.3762 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
95% (63/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
C |
2: 19,480,590 (GRCm38) |
E422G |
probably damaging |
Het |
| 5830473C10Rik |
T |
A |
5: 90,592,868 (GRCm38) |
|
probably null |
Het |
| 8430408G22Rik |
A |
G |
6: 116,652,068 (GRCm38) |
N124S |
possibly damaging |
Het |
| Ace3 |
A |
G |
11: 105,997,214 (GRCm38) |
Y287C |
probably damaging |
Het |
| Arfgap3 |
C |
T |
15: 83,303,129 (GRCm38) |
A510T |
probably damaging |
Het |
| Atg12 |
A |
G |
18: 46,737,424 (GRCm38) |
F92L |
probably benign |
Het |
| Axl |
A |
G |
7: 25,763,911 (GRCm38) |
|
probably benign |
Het |
| Chgb |
C |
A |
2: 132,793,927 (GRCm38) |
D596E |
possibly damaging |
Het |
| Cmtr2 |
T |
A |
8: 110,221,217 (GRCm38) |
F53Y |
possibly damaging |
Het |
| Cnot10 |
A |
G |
9: 114,622,947 (GRCm38) |
F254L |
possibly damaging |
Het |
| Crb2 |
G |
T |
2: 37,786,843 (GRCm38) |
C251F |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,555,757 (GRCm38) |
|
probably benign |
Het |
| Cytl1 |
A |
G |
5: 37,735,596 (GRCm38) |
I17V |
unknown |
Het |
| D930020B18Rik |
A |
G |
10: 121,656,218 (GRCm38) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,045,678 (GRCm38) |
M2083T |
probably benign |
Het |
| Dst |
A |
G |
1: 34,192,269 (GRCm38) |
E2656G |
probably benign |
Het |
| Dst |
T |
C |
1: 34,228,461 (GRCm38) |
F4995L |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,735,969 (GRCm38) |
R264Q |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 72,380,284 (GRCm38) |
I482T |
probably damaging |
Het |
| Eqtn |
A |
G |
4: 94,919,962 (GRCm38) |
I201T |
possibly damaging |
Het |
| Ero1l |
A |
T |
14: 45,292,436 (GRCm38) |
|
probably null |
Het |
| Etl4 |
T |
C |
2: 20,809,219 (GRCm38) |
|
probably benign |
Het |
| Glt6d1 |
T |
C |
2: 25,794,127 (GRCm38) |
D289G |
probably damaging |
Het |
| Gm16427 |
A |
T |
5: 93,485,198 (GRCm38) |
M50K |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 76,008,531 (GRCm38) |
W574R |
probably damaging |
Het |
| Gm5346 |
A |
T |
8: 43,626,350 (GRCm38) |
F279Y |
probably damaging |
Het |
| Gm5414 |
T |
C |
15: 101,625,553 (GRCm38) |
N332D |
probably benign |
Het |
| Gnb3 |
T |
A |
6: 124,836,979 (GRCm38) |
E215D |
probably benign |
Het |
| Ighv1-30 |
C |
T |
12: 114,817,401 (GRCm38) |
|
noncoding transcript |
Het |
| Ighv1-4 |
A |
G |
12: 114,487,527 (GRCm38) |
S15P |
possibly damaging |
Het |
| Igkv1-133 |
T |
G |
6: 67,725,521 (GRCm38) |
Y74* |
probably null |
Het |
| Il17f |
G |
A |
1: 20,777,763 (GRCm38) |
|
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,373,244 (GRCm38) |
|
probably null |
Het |
| Krtap31-1 |
T |
C |
11: 99,908,232 (GRCm38) |
I87T |
possibly damaging |
Het |
| Lilra6 |
A |
T |
7: 3,914,890 (GRCm38) |
F85Y |
probably benign |
Het |
| Lrig3 |
C |
T |
10: 126,013,408 (GRCm38) |
T999I |
probably benign |
Het |
| Myh7b |
T |
C |
2: 155,618,758 (GRCm38) |
I277T |
probably damaging |
Het |
| Myo3b |
T |
C |
2: 70,289,464 (GRCm38) |
F984S |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,246,064 (GRCm38) |
R46W |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,192,040 (GRCm38) |
|
probably null |
Het |
| Olfr670 |
A |
T |
7: 104,960,716 (GRCm38) |
N5K |
probably damaging |
Het |
| Pde11a |
C |
T |
2: 76,337,898 (GRCm38) |
R237H |
probably damaging |
Het |
| Pdk4 |
T |
C |
6: 5,491,865 (GRCm38) |
N69S |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,752,357 (GRCm38) |
|
probably null |
Het |
| Psg23 |
A |
T |
7: 18,607,118 (GRCm38) |
S404T |
possibly damaging |
Het |
| Rev1 |
T |
G |
1: 38,054,238 (GRCm38) |
K1075T |
possibly damaging |
Het |
| Rrbp1 |
T |
G |
2: 143,963,110 (GRCm38) |
Q1045P |
probably benign |
Het |
| Scg2 |
A |
C |
1: 79,436,857 (GRCm38) |
F50V |
probably damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,154,287 (GRCm38) |
Y619H |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,268,224 (GRCm38) |
I57K |
possibly damaging |
Het |
| Srp72 |
C |
A |
5: 76,998,251 (GRCm38) |
T633K |
probably benign |
Het |
| Swt1 |
A |
G |
1: 151,394,769 (GRCm38) |
V565A |
probably benign |
Het |
| Tesk1 |
A |
G |
4: 43,443,606 (GRCm38) |
I58V |
possibly damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,697,750 (GRCm38) |
L49* |
probably null |
Het |
| Tmprss11e |
T |
C |
5: 86,715,643 (GRCm38) |
T188A |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,671,871 (GRCm38) |
N396S |
probably benign |
Het |
| Tuba8 |
T |
A |
6: 121,222,797 (GRCm38) |
S147T |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,752,370 (GRCm38) |
D822G |
probably damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,156,700 (GRCm38) |
I622F |
probably damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,787,415 (GRCm38) |
H417L |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 54,898,108 (GRCm38) |
V920E |
probably damaging |
Het |
| Zmym2 |
T |
C |
14: 56,903,004 (GRCm38) |
L100P |
probably damaging |
Het |
|
| Other mutations in Fcho1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Fcho1
|
APN |
8 |
71,713,523 (GRCm38) |
nonsense |
probably null |
|
|
IGL01291:Fcho1
|
APN |
8 |
71,712,547 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL01473:Fcho1
|
APN |
8 |
71,712,138 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02021:Fcho1
|
APN |
8 |
71,721,275 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02086:Fcho1
|
APN |
8 |
71,716,800 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02808:Fcho1
|
APN |
8 |
71,712,541 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL03146:Fcho1
|
APN |
8 |
71,717,430 (GRCm38) |
splice site |
probably benign |
|
|
IGL03267:Fcho1
|
APN |
8 |
71,712,299 (GRCm38) |
unclassified |
probably benign |
|
|
cameo
|
UTSW |
8 |
71,716,863 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
Lesser
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
Sidekick
|
UTSW |
8 |
71,715,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ANU05:Fcho1
|
UTSW |
8 |
71,712,547 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0003:Fcho1
|
UTSW |
8 |
71,708,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0010:Fcho1
|
UTSW |
8 |
71,709,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0020:Fcho1
|
UTSW |
8 |
71,716,870 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0363:Fcho1
|
UTSW |
8 |
71,717,490 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0457:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0485:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0501:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0502:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0551:Fcho1
|
UTSW |
8 |
71,712,174 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0583:Fcho1
|
UTSW |
8 |
71,715,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0584:Fcho1
|
UTSW |
8 |
71,715,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0585:Fcho1
|
UTSW |
8 |
71,715,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0612:Fcho1
|
UTSW |
8 |
71,715,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0614:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0647:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0841:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0842:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1034:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1036:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1399:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1466:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1466:Fcho1
|
UTSW |
8 |
71,712,560 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1618:Fcho1
|
UTSW |
8 |
71,710,403 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1754:Fcho1
|
UTSW |
8 |
71,711,246 (GRCm38) |
missense |
probably benign |
|
|
R1793:Fcho1
|
UTSW |
8 |
71,709,022 (GRCm38) |
nonsense |
probably null |
|
|
R2073:Fcho1
|
UTSW |
8 |
71,710,489 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2177:Fcho1
|
UTSW |
8 |
71,712,261 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4072:Fcho1
|
UTSW |
8 |
71,710,369 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4076:Fcho1
|
UTSW |
8 |
71,710,369 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4606:Fcho1
|
UTSW |
8 |
71,712,480 (GRCm38) |
missense |
probably benign |
|
|
R4732:Fcho1
|
UTSW |
8 |
71,716,795 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4733:Fcho1
|
UTSW |
8 |
71,716,795 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4860:Fcho1
|
UTSW |
8 |
71,710,481 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4860:Fcho1
|
UTSW |
8 |
71,710,481 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5082:Fcho1
|
UTSW |
8 |
71,717,185 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R5083:Fcho1
|
UTSW |
8 |
71,717,176 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5185:Fcho1
|
UTSW |
8 |
71,714,956 (GRCm38) |
unclassified |
probably benign |
|
|
R6025:Fcho1
|
UTSW |
8 |
71,712,573 (GRCm38) |
splice site |
probably null |
|
|
R6624:Fcho1
|
UTSW |
8 |
71,709,371 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6875:Fcho1
|
UTSW |
8 |
71,714,425 (GRCm38) |
splice site |
probably null |
|
|
R7069:Fcho1
|
UTSW |
8 |
71,710,497 (GRCm38) |
splice site |
probably null |
|
|
R7476:Fcho1
|
UTSW |
8 |
71,713,546 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7512:Fcho1
|
UTSW |
8 |
71,716,863 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7951:Fcho1
|
UTSW |
8 |
71,712,276 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8699:Fcho1
|
UTSW |
8 |
71,709,633 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8938:Fcho1
|
UTSW |
8 |
71,717,146 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9090:Fcho1
|
UTSW |
8 |
71,710,424 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9117:Fcho1
|
UTSW |
8 |
71,712,068 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9119:Fcho1
|
UTSW |
8 |
71,712,068 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9271:Fcho1
|
UTSW |
8 |
71,710,424 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9433:Fcho1
|
UTSW |
8 |
71,716,824 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9447:Fcho1
|
UTSW |
8 |
71,717,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATATCCTCACCCCTCGG -3'
(R):5'- TGGCTGCAAGTATAACCAGGAG -3'
Sequencing Primer
(F):5'- ATTCCAGACTGGGCTGCTG -3'
(R):5'- AGGGTCCAGTGCCAAGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation