Incidental Mutation 'IGL00591:Fnd3c2'
| ID |
13480 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fnd3c2
|
| Ensembl Gene |
ENSMUSG00000073012 |
| Gene Name |
fibronectin type III domain containing 3C2 |
| Synonyms |
5031408O05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.034)
|
| Stock # |
IGL00591
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
105278852-105298978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105279597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 845
(Y845F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091282]
|
| AlphaFold |
A2AP83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091282
AA Change: Y845F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088827
Gene: ENSMUSG00000073012
AA Change: Y845F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
29 |
N/A |
INTRINSIC |
|
FN3
|
139 |
223 |
5.07e0 |
SMART |
|
FN3
|
237 |
317 |
3.93e-9 |
SMART |
|
FN3
|
332 |
414 |
5.11e-8 |
SMART |
|
FN3
|
429 |
513 |
2.21e-3 |
SMART |
|
FN3
|
613 |
688 |
3.93e-9 |
SMART |
|
FN3
|
702 |
783 |
2.31e-6 |
SMART |
|
FN3
|
798 |
876 |
2.14e-1 |
SMART |
|
low complexity region
|
896 |
916 |
N/A |
INTRINSIC |
|
transmembrane domain
|
922 |
940 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Csmd3 |
C |
T |
15: 47,868,279 (GRCm39) |
C747Y |
probably damaging |
Het |
| Elk3 |
T |
C |
10: 93,120,689 (GRCm39) |
N50S |
probably damaging |
Het |
| Esyt2 |
T |
A |
12: 116,327,064 (GRCm39) |
L544H |
probably damaging |
Het |
| Faap20 |
A |
G |
4: 155,335,067 (GRCm39) |
N56S |
probably benign |
Het |
| Gm1110 |
C |
A |
9: 26,792,170 (GRCm39) |
E617* |
probably null |
Het |
| Gpbp1 |
T |
C |
13: 111,577,284 (GRCm39) |
D202G |
probably damaging |
Het |
| Hecw1 |
C |
T |
13: 14,440,565 (GRCm39) |
G1242R |
possibly damaging |
Het |
| Iqce |
A |
T |
5: 140,663,883 (GRCm39) |
L132* |
probably null |
Het |
| Mthfd1 |
C |
A |
12: 76,347,213 (GRCm39) |
P550Q |
possibly damaging |
Het |
| Pabpc6 |
C |
T |
17: 9,887,427 (GRCm39) |
V375I |
possibly damaging |
Het |
| Sh2d4b |
G |
T |
14: 40,594,490 (GRCm39) |
F163L |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,917,129 (GRCm39) |
T12A |
possibly damaging |
Het |
| Xkr8 |
A |
T |
4: 132,455,357 (GRCm39) |
Y339N |
probably damaging |
Het |
| Zfp108 |
A |
G |
7: 23,960,911 (GRCm39) |
K501E |
possibly damaging |
Het |
|
| Other mutations in Fnd3c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01515:Fnd3c2
|
APN |
X |
105,282,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02484:Fnd3c2
|
APN |
X |
105,289,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03301:Fnd3c2
|
APN |
X |
105,295,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0630:Fnd3c2
|
UTSW |
X |
105,282,763 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0654:Fnd3c2
|
UTSW |
X |
105,290,760 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1678:Fnd3c2
|
UTSW |
X |
105,281,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation