Incidental Mutation 'IGL02715:Fcho2'
| ID |
304700 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fcho2
|
| Ensembl Gene |
ENSMUSG00000041685 |
| Gene Name |
FCH domain only 2 |
| Synonyms |
5832424M12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02715
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
98859911-98951957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 98932843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 53
(M53T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096883
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040340]
[ENSMUST00000099277]
[ENSMUST00000109403]
[ENSMUST00000179563]
[ENSMUST00000224992]
[ENSMUST00000225840]
|
| AlphaFold |
Q3UQN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040340
AA Change: M53T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042959
Gene: ENSMUSG00000041685
AA Change: M53T
| 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 damaging
Transcript: ENSMUST00000099277
AA Change: M53T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096883
Gene: ENSMUSG00000041685
AA Change: M53T
| 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 damaging
Transcript: ENSMUST00000109403
AA Change: M53T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105030
Gene: ENSMUSG00000041685
AA Change: M53T
| 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: M53T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137422
Gene: ENSMUSG00000041685
AA Change: M53T
| Domain | Start | End | E-Value | Type |
|---|
|
FCH
|
8 |
94 |
1.74e-19 |
SMART |
|
low complexity region
|
341 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223763
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224231
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224992
AA Change: M53T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225840
AA Change: M53T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225263
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,089,714 (GRCm39) |
I57V |
probably damaging |
Het |
| Abce1 |
T |
A |
8: 80,416,990 (GRCm39) |
E340D |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,636,212 (GRCm39) |
R583W |
probably damaging |
Het |
| Aig1 |
A |
G |
10: 13,744,360 (GRCm39) |
|
probably null |
Het |
| Atpsckmt |
A |
G |
15: 31,606,149 (GRCm39) |
T36A |
probably benign |
Het |
| Brd3 |
C |
A |
2: 27,344,495 (GRCm39) |
A412S |
possibly damaging |
Het |
| C3 |
A |
G |
17: 57,511,158 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
A |
G |
13: 74,504,893 (GRCm39) |
E147G |
probably benign |
Het |
| Chrna4 |
A |
G |
2: 180,671,374 (GRCm39) |
|
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,323 (GRCm39) |
L151P |
probably damaging |
Het |
| Col11a1 |
G |
T |
3: 113,923,058 (GRCm39) |
M7I |
probably benign |
Het |
| Cstdc4 |
T |
C |
16: 36,008,315 (GRCm39) |
I67T |
possibly damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,542,469 (GRCm39) |
|
probably null |
Het |
| Fmnl2 |
T |
C |
2: 52,962,222 (GRCm39) |
Y236H |
possibly damaging |
Het |
| G6bos |
A |
G |
17: 35,284,537 (GRCm39) |
|
probably null |
Het |
| Gramd1a |
C |
T |
7: 30,835,279 (GRCm39) |
G436D |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,007,131 (GRCm39) |
Y1243C |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,794,505 (GRCm39) |
D523G |
probably benign |
Het |
| Lrrc2 |
A |
C |
9: 110,799,182 (GRCm39) |
D177A |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,848,905 (GRCm39) |
|
probably null |
Het |
| Mrgpra6 |
A |
T |
7: 46,838,396 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,184,365 (GRCm39) |
|
probably benign |
Het |
| Myzap |
C |
A |
9: 71,422,397 (GRCm39) |
E392* |
probably null |
Het |
| Ndst3 |
G |
A |
3: 123,340,410 (GRCm39) |
|
probably benign |
Het |
| Nlrc5 |
C |
A |
8: 95,201,296 (GRCm39) |
P130H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,971,137 (GRCm39) |
T2526A |
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,479,947 (GRCm39) |
I206F |
probably benign |
Het |
| Pcnt |
C |
A |
10: 76,204,556 (GRCm39) |
|
probably benign |
Het |
| Pfpl |
T |
A |
19: 12,407,145 (GRCm39) |
C465* |
probably null |
Het |
| Pkd1l3 |
T |
A |
8: 110,353,458 (GRCm39) |
C680S |
probably damaging |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,604 (GRCm39) |
G793V |
unknown |
Het |
| Prss27 |
A |
T |
17: 24,263,953 (GRCm39) |
D213V |
possibly damaging |
Het |
| Sh2d5 |
T |
C |
4: 137,984,018 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
C |
13: 59,851,549 (GRCm39) |
D193G |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,868,588 (GRCm39) |
V66A |
probably benign |
Het |
| Synpr |
T |
C |
14: 13,608,618 (GRCm38) |
S133P |
probably damaging |
Het |
| Tagln3 |
T |
C |
16: 45,544,588 (GRCm39) |
N28D |
probably benign |
Het |
| Tfrc |
A |
G |
16: 32,443,189 (GRCm39) |
T494A |
probably benign |
Het |
| Tmem38a |
T |
C |
8: 73,333,512 (GRCm39) |
I77T |
possibly damaging |
Het |
| Tmem42 |
C |
A |
9: 122,851,295 (GRCm39) |
T86N |
probably damaging |
Het |
| Ttc8 |
T |
A |
12: 98,910,179 (GRCm39) |
|
probably benign |
Het |
| Tub |
G |
A |
7: 108,628,517 (GRCm39) |
V342I |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,014,218 (GRCm39) |
I337F |
probably damaging |
Het |
| Xkr7 |
A |
G |
2: 152,896,277 (GRCm39) |
E377G |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,819,542 (GRCm39) |
G260D |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation