Incidental Mutation 'R8512:Fcho2'
| ID |
655953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcho2
|
| Ensembl Gene |
ENSMUSG00000041685 |
| Gene Name |
FCH domain only 2 |
| Synonyms |
5832424M12Rik |
| MMRRC Submission |
067846-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98891730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 344
(D344G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040340]
[ENSMUST00000099277]
[ENSMUST00000109403]
[ENSMUST00000179563]
[ENSMUST00000224992]
|
| AlphaFold |
Q3UQN2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040340
AA Change: D344G
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: D344G
| 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 |
possibly damaging
Transcript: ENSMUST00000109403
AA Change: D344G
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: D344G
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
8 |
94 |
1.74e-19 |
SMART |
|
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179563
AA Change: D344G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: D344G
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
8 |
94 |
1.74e-19 |
SMART |
|
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224992
AA Change: D344G
PolyPhen 2
Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,125,760 (GRCm39) |
|
probably null |
Het |
| Akap13 |
T |
C |
7: 75,260,834 (GRCm39) |
S350P |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,321,154 (GRCm39) |
F553L |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,661 (GRCm39) |
T548S |
probably benign |
Het |
| Chtf8 |
G |
A |
8: 107,612,066 (GRCm39) |
T291I |
probably benign |
Het |
| Ckmt1 |
A |
T |
2: 121,191,689 (GRCm39) |
R286S |
probably damaging |
Het |
| Dnajb2 |
C |
T |
1: 75,218,075 (GRCm39) |
R191W |
|
Het |
| Dtnbp1 |
G |
T |
13: 45,075,867 (GRCm39) |
A292E |
probably benign |
Het |
| Esrrg |
T |
G |
1: 187,775,777 (GRCm39) |
Y101* |
probably null |
Het |
| Etaa1 |
G |
A |
11: 17,897,442 (GRCm39) |
S225L |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,243,121 (GRCm39) |
Y335C |
probably benign |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
C |
T |
15: 63,706,864 (GRCm39) |
V101I |
probably null |
Het |
| Gsdmc4 |
A |
G |
15: 63,763,808 (GRCm39) |
C430R |
probably damaging |
Het |
| Irak4 |
A |
C |
15: 94,464,659 (GRCm39) |
I410L |
probably benign |
Het |
| Kirrel1 |
A |
G |
3: 86,995,534 (GRCm39) |
V436A |
probably benign |
Het |
| Lrrc30 |
T |
A |
17: 67,938,947 (GRCm39) |
Q211L |
probably damaging |
Het |
| Map4k1 |
C |
T |
7: 28,695,583 (GRCm39) |
H512Y |
possibly damaging |
Het |
| Matn3 |
T |
A |
12: 9,011,183 (GRCm39) |
S365T |
probably benign |
Het |
| Msantd2 |
T |
C |
9: 37,434,231 (GRCm39) |
I358T |
possibly damaging |
Het |
| Msantd5 |
T |
A |
11: 51,125,487 (GRCm39) |
S137T |
probably benign |
Het |
| Msx3 |
G |
T |
7: 139,628,884 (GRCm39) |
A10E |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,549,488 (GRCm39) |
T5602A |
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,081,187 (GRCm39) |
S1268P |
probably benign |
Het |
| Mynn |
C |
T |
3: 30,670,798 (GRCm39) |
P557S |
probably damaging |
Het |
| Naglu |
T |
C |
11: 100,961,168 (GRCm39) |
V73A |
probably benign |
Het |
| Ncor1 |
AGCTGCTGCTGCTGCTGCTGCTGCTG |
AGCTGCTGCTGCTGCTGCTGCTG |
11: 62,324,437 (GRCm39) |
|
probably benign |
Het |
| Or10al3 |
T |
A |
17: 38,012,071 (GRCm39) |
F170Y |
probably damaging |
Het |
| Or6c75 |
T |
A |
10: 129,337,496 (GRCm39) |
S240T |
probably damaging |
Het |
| P2rx3 |
C |
T |
2: 84,854,755 (GRCm39) |
E100K |
probably damaging |
Het |
| Pnisr |
C |
T |
4: 21,870,372 (GRCm39) |
Q375* |
probably null |
Het |
| Psmb9 |
C |
T |
17: 34,402,602 (GRCm39) |
C126Y |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,400,783 (GRCm39) |
F1085L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,697,534 (GRCm39) |
Y677C |
probably damaging |
Het |
| Rftn2 |
G |
A |
1: 55,253,324 (GRCm39) |
P93L |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,561,051 (GRCm39) |
M263L |
unknown |
Het |
| Sec24c |
T |
C |
14: 20,740,920 (GRCm39) |
V722A |
possibly damaging |
Het |
| Slc2a7 |
T |
C |
4: 150,247,752 (GRCm39) |
L384P |
probably benign |
Het |
| Slc6a11 |
T |
C |
6: 114,215,402 (GRCm39) |
L434P |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,648,826 (GRCm39) |
E1869G |
possibly damaging |
Het |
| Susd2 |
G |
A |
10: 75,475,485 (GRCm39) |
T473I |
probably benign |
Het |
| Synpo |
C |
T |
18: 60,735,483 (GRCm39) |
R821H |
probably damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,012,627 (GRCm39) |
V1184I |
probably benign |
Het |
| Tle1 |
T |
G |
4: 72,040,670 (GRCm39) |
K630Q |
possibly damaging |
Het |
| Traf3 |
A |
T |
12: 111,228,426 (GRCm39) |
T546S |
probably benign |
Het |
| Ttc17 |
G |
A |
2: 94,202,108 (GRCm39) |
T398M |
probably damaging |
Het |
| Ttn |
G |
C |
2: 76,698,692 (GRCm39) |
N136K |
|
Het |
| Ttn |
T |
C |
2: 76,747,111 (GRCm39) |
E4646G |
probably benign |
Het |
| Xbp1 |
T |
C |
11: 5,474,266 (GRCm39) |
S156P |
probably damaging |
Het |
| Yipf7 |
C |
T |
5: 69,674,387 (GRCm39) |
V253I |
probably benign |
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 |
|
|
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'- GGTTCTATACACAGTACATATTGGC -3'
(R):5'- CAGAATGATATCCTTTTGTGATCTGGG -3'
Sequencing Primer
(F):5'- CACAGTACATATTGGCTTATGTTCAG -3'
(R):5'- GGTTGTGTTGGCATAAACATAGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation