Incidental Mutation 'R9672:Fcho2'
| ID |
728112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho2
|
| Ensembl Gene |
ENSMUSG00000041685 |
| Gene Name |
FCH domain only 2 |
| Synonyms |
5832424M12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 98869178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 564
(C564*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040340]
[ENSMUST00000099277]
|
| AlphaFold |
Q3UQN2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040340
AA Change: C564*
|
| SMART Domains |
Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: C564*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,838,563 (GRCm39) |
K612N |
probably null |
Het |
| Atrnl1 |
G |
A |
19: 57,618,695 (GRCm39) |
A138T |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,794,666 (GRCm39) |
T164A |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,671,016 (GRCm39) |
S497P |
unknown |
Het |
| Cd209d |
C |
G |
8: 3,922,036 (GRCm39) |
G212A |
probably damaging |
Het |
| Cog8 |
A |
G |
8: 107,780,658 (GRCm39) |
I200T |
probably damaging |
Het |
| Cuzd1 |
T |
A |
7: 130,919,847 (GRCm39) |
I90F |
possibly damaging |
Het |
| Cyp4a30b |
T |
A |
4: 115,316,576 (GRCm39) |
C401S |
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,427,422 (GRCm39) |
N209K |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dcaf11 |
T |
A |
14: 55,806,484 (GRCm39) |
Y468* |
probably null |
Het |
| Dennd4a |
A |
G |
9: 64,800,640 (GRCm39) |
D926G |
probably benign |
Het |
| Dph7 |
T |
C |
2: 24,855,606 (GRCm39) |
L135P |
probably benign |
Het |
| Gabrb2 |
G |
A |
11: 42,312,207 (GRCm39) |
G11R |
probably benign |
Het |
| Gas6 |
A |
G |
8: 13,528,273 (GRCm39) |
S187P |
probably benign |
Het |
| Gemin5 |
C |
T |
11: 58,058,585 (GRCm39) |
V93I |
probably benign |
Het |
| Gldn |
A |
T |
9: 54,245,780 (GRCm39) |
I444F |
probably damaging |
Het |
| Gmps |
T |
C |
3: 63,897,750 (GRCm39) |
V234A |
probably damaging |
Het |
| Hand1 |
A |
G |
11: 57,722,516 (GRCm39) |
S33P |
possibly damaging |
Het |
| Ice2 |
G |
A |
9: 69,322,899 (GRCm39) |
A465T |
probably benign |
Het |
| Irf9 |
T |
C |
14: 55,842,129 (GRCm39) |
S2P |
probably benign |
Het |
| Kpna7 |
C |
T |
5: 144,944,776 (GRCm39) |
M21I |
probably benign |
Het |
| Lig4 |
A |
G |
8: 10,023,213 (GRCm39) |
M189T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,779,291 (GRCm39) |
T2698A |
|
Het |
| Med10 |
A |
G |
13: 69,963,711 (GRCm39) |
K104R |
probably benign |
Het |
| Mfsd14b |
A |
G |
13: 65,260,320 (GRCm39) |
W38R |
probably benign |
Het |
| Mrgpra2a |
A |
G |
7: 47,076,490 (GRCm39) |
F256S |
probably benign |
Het |
| Myo9a |
A |
G |
9: 59,687,332 (GRCm39) |
K146E |
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,259,454 (GRCm39) |
Y251F |
probably damaging |
Het |
| Pabpc4 |
T |
C |
4: 123,184,133 (GRCm39) |
|
probably null |
Het |
| Pde8a |
A |
G |
7: 80,942,014 (GRCm39) |
N151S |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,100,824 (GRCm39) |
F176L |
possibly damaging |
Het |
| Plekhg5 |
C |
A |
4: 152,187,541 (GRCm39) |
D115E |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,007,889 (GRCm39) |
C532R |
unknown |
Het |
| Rasa2 |
A |
G |
9: 96,427,781 (GRCm39) |
W695R |
probably damaging |
Het |
| Rbpms2 |
A |
G |
9: 65,538,118 (GRCm39) |
N3S |
probably benign |
Het |
| Rsph6a |
A |
G |
7: 18,799,842 (GRCm39) |
Y491C |
probably damaging |
Het |
| Scel |
T |
A |
14: 103,836,838 (GRCm39) |
N495K |
possibly damaging |
Het |
| Setd1a |
T |
C |
7: 127,385,237 (GRCm39) |
L648P |
possibly damaging |
Het |
| Snx29 |
A |
T |
16: 11,478,515 (GRCm39) |
R333S |
probably benign |
Het |
| Sppl2c |
A |
G |
11: 104,077,344 (GRCm39) |
Y48C |
probably damaging |
Het |
| Uba2 |
A |
T |
7: 33,856,749 (GRCm39) |
N230K |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,603,613 (GRCm39) |
Q589R |
possibly damaging |
Het |
| Vmn1r51 |
T |
A |
6: 90,106,549 (GRCm39) |
L155H |
probably damaging |
Het |
| Vmn2r97 |
A |
G |
17: 19,149,442 (GRCm39) |
N277D |
probably benign |
Het |
| Wdr97 |
T |
A |
15: 76,240,377 (GRCm39) |
V355E |
|
Het |
| Yy1 |
C |
A |
12: 108,759,584 (GRCm39) |
H82Q |
unknown |
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 |
|
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 |
|
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'- TAATCTTAGCAGCACGGCACAC -3'
(R):5'- CCCTACAGGTCTTCCAAGGATG -3'
Sequencing Primer
(F):5'- CTAACCTGAACACAAGCTGGGAG -3'
(R):5'- GGATGGCTACCACACACAAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation