Incidental Mutation 'IGL00670:Fndc3c1'
| ID |
10800 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fndc3c1
|
| Ensembl Gene |
ENSMUSG00000033737 |
| Gene Name |
fibronectin type III domain containing 3C1 |
| Synonyms |
LOC333564 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL00670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
105463647-105529007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105489383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 346
(D346G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039447]
[ENSMUST00000149331]
|
| AlphaFold |
Q6DFV6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039447
AA Change: D346G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038678
Gene: ENSMUSG00000033737
AA Change: D346G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
182 |
195 |
N/A |
INTRINSIC |
|
Blast:FN3
|
200 |
303 |
8e-10 |
BLAST |
|
low complexity region
|
308 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
338 |
353 |
N/A |
INTRINSIC |
|
FN3
|
449 |
537 |
2.64e-1 |
SMART |
|
FN3
|
551 |
631 |
2.42e-9 |
SMART |
|
FN3
|
646 |
728 |
1.37e-8 |
SMART |
|
FN3
|
743 |
827 |
1.11e-3 |
SMART |
|
FN3
|
915 |
994 |
3.42e-9 |
SMART |
|
FN3
|
1015 |
1090 |
5.48e-8 |
SMART |
|
FN3
|
1104 |
1185 |
2.48e-6 |
SMART |
|
FN3
|
1200 |
1278 |
1.9e-2 |
SMART |
|
low complexity region
|
1298 |
1313 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1333 |
1355 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149331
|
| 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 |
|---|
| Abcc9 |
A |
T |
6: 142,633,007 (GRCm39) |
L245Q |
probably damaging |
Het |
| Abcd3 |
A |
T |
3: 121,569,333 (GRCm39) |
V333D |
probably damaging |
Het |
| Aff2 |
T |
A |
X: 68,588,199 (GRCm39) |
M122K |
possibly damaging |
Het |
| Car10 |
C |
T |
11: 93,195,483 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
T |
A |
15: 82,675,942 (GRCm39) |
M257L |
probably benign |
Het |
| Cyp2j5 |
T |
G |
4: 96,522,512 (GRCm39) |
D354A |
probably benign |
Het |
| Fam228b |
T |
C |
12: 4,814,081 (GRCm39) |
K59E |
probably damaging |
Het |
| Med14 |
G |
A |
X: 12,620,428 (GRCm39) |
A95V |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,764,482 (GRCm39) |
L155P |
probably damaging |
Het |
| Mrps31 |
A |
G |
8: 22,919,206 (GRCm39) |
D312G |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,059 (GRCm39) |
N618K |
probably benign |
Het |
| Prb1a |
A |
T |
6: 132,184,109 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
A |
T |
10: 75,999,567 (GRCm39) |
I210F |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,241 (GRCm39) |
I522N |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,657,335 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Fndc3c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01408:Fndc3c1
|
APN |
X |
105,476,378 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01518:Fndc3c1
|
APN |
X |
105,475,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01718:Fndc3c1
|
APN |
X |
105,489,534 (GRCm39) |
missense |
probably benign |
|
|
IGL02143:Fndc3c1
|
APN |
X |
105,516,340 (GRCm39) |
splice site |
probably benign |
|
|
IGL02214:Fndc3c1
|
APN |
X |
105,469,435 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03192:Fndc3c1
|
APN |
X |
105,479,922 (GRCm39) |
splice site |
probably null |
|
|
IGL03199:Fndc3c1
|
APN |
X |
105,479,993 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03370:Fndc3c1
|
APN |
X |
105,464,307 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0644:Fndc3c1
|
UTSW |
X |
105,478,568 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0714:Fndc3c1
|
UTSW |
X |
105,468,972 (GRCm39) |
nonsense |
probably null |
|
|
R1928:Fndc3c1
|
UTSW |
X |
105,477,128 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1998:Fndc3c1
|
UTSW |
X |
105,464,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1999:Fndc3c1
|
UTSW |
X |
105,464,311 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4110:Fndc3c1
|
UTSW |
X |
105,487,897 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4785:Fndc3c1
|
UTSW |
X |
105,481,308 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6623:Fndc3c1
|
UTSW |
X |
105,478,679 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7173:Fndc3c1
|
UTSW |
X |
105,478,679 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7208:Fndc3c1
|
UTSW |
X |
105,478,679 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1176:Fndc3c1
|
UTSW |
X |
105,477,935 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation