Incidental Mutation 'R9092:Fcho2'
| ID |
691086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho2
|
| Ensembl Gene |
ENSMUSG00000041685 |
| Gene Name |
FCH domain only 2 |
| Synonyms |
5832424M12Rik |
| MMRRC Submission |
068908-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9092 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98886391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 408
(T408A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040340]
[ENSMUST00000099277]
[ENSMUST00000109403]
[ENSMUST00000179563]
[ENSMUST00000224992]
|
| AlphaFold |
Q3UQN2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040340
AA Change: T408A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: T408A
| 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 |
probably benign
Transcript: ENSMUST00000109403
|
| SMART Domains |
Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
| 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
|
| SMART Domains |
Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
| 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
|
| Meta Mutation Damage Score |
0.0573 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
93% (56/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chl1 |
T |
C |
6: 103,645,815 (GRCm39) |
|
probably benign |
Het |
| Crtc3 |
T |
C |
7: 80,239,628 (GRCm39) |
M575V |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,514,671 (GRCm39) |
N22I |
probably damaging |
Het |
| Dcun1d2 |
G |
A |
8: 13,307,935 (GRCm39) |
R248W |
probably damaging |
Het |
| Dlc1 |
G |
T |
8: 37,199,860 (GRCm39) |
H7Q |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,307,004 (GRCm39) |
D30G |
probably benign |
Het |
| Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
| E2f7 |
T |
C |
10: 110,616,874 (GRCm39) |
S705P |
probably benign |
Het |
| Ephb3 |
G |
A |
16: 21,041,214 (GRCm39) |
S977N |
probably benign |
Het |
| F13a1 |
T |
G |
13: 37,089,993 (GRCm39) |
D448A |
probably benign |
Het |
| Fam216b |
T |
C |
14: 78,322,537 (GRCm39) |
T56A |
possibly damaging |
Het |
| Flvcr1 |
A |
T |
1: 190,740,364 (GRCm39) |
V552E |
|
Het |
| Gab3 |
CTT |
CTTGTT |
X: 74,043,612 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,602 (GRCm39) |
|
probably benign |
Het |
| Galnt15 |
A |
G |
14: 31,780,196 (GRCm39) |
K622E |
probably benign |
Het |
| Gjb3 |
GCCAGATGCGCCCA |
GCCAGATGCGCCCAGATGCGCCCA |
4: 127,220,458 (GRCm39) |
|
probably null |
Het |
| Gjb3 |
A |
AGATGCGCCCG |
4: 127,220,471 (GRCm39) |
|
probably null |
Het |
| Gm5414 |
T |
G |
15: 101,536,345 (GRCm39) |
R93S |
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,318,241 (GRCm39) |
*87Q |
probably null |
Het |
| Il7r |
T |
A |
15: 9,510,270 (GRCm39) |
H261L |
probably benign |
Het |
| Itsn1 |
T |
A |
16: 91,609,002 (GRCm39) |
M250K |
possibly damaging |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Liat1 |
A |
G |
11: 75,893,887 (GRCm39) |
D88G |
possibly damaging |
Het |
| Lrrc47 |
C |
A |
4: 154,096,421 (GRCm39) |
T72K |
possibly damaging |
Het |
| Map2k4 |
C |
A |
11: 65,581,599 (GRCm39) |
R371L |
probably benign |
Het |
| Mmrn2 |
T |
C |
14: 34,118,587 (GRCm39) |
F158L |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,455,475 (GRCm39) |
L242Q |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,054,414 (GRCm39) |
|
probably null |
Het |
| Noc3l |
T |
A |
19: 38,798,487 (GRCm39) |
K305I |
probably damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,321 (GRCm39) |
T207A |
probably damaging |
Het |
| Pag1 |
T |
C |
3: 9,764,848 (GRCm39) |
T102A |
probably benign |
Het |
| Pam |
A |
G |
1: 97,791,976 (GRCm39) |
S482P |
probably benign |
Het |
| Pax1 |
T |
G |
2: 147,204,287 (GRCm39) |
W23G |
unknown |
Het |
| Pcdhgb1 |
T |
A |
18: 37,813,989 (GRCm39) |
V160D |
possibly damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,280,125 (GRCm39) |
D719G |
probably damaging |
Het |
| Phlda1 |
T |
C |
10: 111,342,474 (GRCm39) |
L70S |
possibly damaging |
Het |
| Pikfyve |
G |
A |
1: 65,283,559 (GRCm39) |
R732K |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,788,347 (GRCm39) |
V702F |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,632,586 (GRCm39) |
Y610H |
probably benign |
Het |
| Pofut1 |
T |
G |
2: 153,101,508 (GRCm39) |
H87Q |
probably benign |
Het |
| Runx2 |
C |
A |
17: 45,046,443 (GRCm39) |
D109Y |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,696,540 (GRCm39) |
I290F |
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,874,321 (GRCm39) |
N198S |
probably benign |
Het |
| Slc27a6 |
C |
A |
18: 58,742,330 (GRCm39) |
R515S |
probably benign |
Het |
| Sorbs3 |
C |
T |
14: 70,445,004 (GRCm39) |
V25I |
probably benign |
Het |
| Speg |
A |
G |
1: 75,399,378 (GRCm39) |
E2275G |
probably benign |
Het |
| Tmem161b |
C |
T |
13: 84,440,503 (GRCm39) |
T307I |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,678,581 (GRCm39) |
D361G |
probably damaging |
Het |
| Tmprss11c |
T |
C |
5: 86,385,495 (GRCm39) |
T326A |
probably benign |
Het |
| Tpbg |
T |
C |
9: 85,726,916 (GRCm39) |
V295A |
possibly damaging |
Het |
| Ulk4 |
A |
T |
9: 120,903,003 (GRCm39) |
I1158N |
|
Het |
| Utp20 |
C |
A |
10: 88,604,679 (GRCm39) |
A1739S |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,110 (GRCm39) |
I308F |
possibly damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,807 (GRCm39) |
T198S |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,281,593 (GRCm39) |
I318T |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,226,451 (GRCm39) |
W750R |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,031,648 (GRCm39) |
I764T |
probably benign |
Het |
| Zfp708 |
C |
A |
13: 67,218,564 (GRCm39) |
D420Y |
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 |
|
|
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 |
|
|
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'- CTGTAAGAACTGCCCAGAGG -3'
(R):5'- ATCGGCAGACATTCAGCTTTG -3'
Sequencing Primer
(F):5'- TTTCAAGATGCACGGTCAGC -3'
(R):5'- TTAGCATTGGACTATGTAAGT -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation