Incidental Mutation 'IGL03199:Fndc3c1'
ID |
412928 |
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 # |
IGL03199
|
Quality Score |
|
Status
|
|
Chromosome |
X |
Chromosomal Location |
105463647-105529007 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105479993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 696
(K696N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038678
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039447]
|
AlphaFold |
Q6DFV6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039447
AA Change: K696N
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038678 Gene: ENSMUSG00000033737 AA Change: K696N
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 |
noncoding transcript
Transcript: ENSMUST00000127796
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151745
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
C |
15: 81,946,556 (GRCm39) |
I151T |
possibly damaging |
Het |
Alms1 |
T |
A |
6: 85,599,479 (GRCm39) |
M1904K |
possibly damaging |
Het |
Chsy3 |
T |
A |
18: 59,309,473 (GRCm39) |
F242Y |
probably damaging |
Het |
Cwf19l2 |
G |
A |
9: 3,477,830 (GRCm39) |
G845D |
probably damaging |
Het |
Cyfip2 |
A |
G |
11: 46,167,670 (GRCm39) |
I244T |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,894,761 (GRCm39) |
Q3499L |
probably benign |
Het |
Fat3 |
A |
G |
9: 16,288,344 (GRCm39) |
V393A |
possibly damaging |
Het |
Fcamr |
T |
A |
1: 130,740,655 (GRCm39) |
V358D |
probably damaging |
Het |
Igkv2-112 |
G |
A |
6: 68,197,000 (GRCm39) |
M12I |
probably benign |
Het |
Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
Map4k1 |
A |
G |
7: 28,682,842 (GRCm39) |
E16G |
probably damaging |
Het |
Myl7 |
C |
T |
11: 5,848,205 (GRCm39) |
G50R |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,382,856 (GRCm39) |
L229H |
probably damaging |
Het |
Or10d4b |
A |
G |
9: 39,535,240 (GRCm39) |
I272V |
probably benign |
Het |
Prkcz |
A |
G |
4: 155,357,441 (GRCm39) |
F157L |
possibly damaging |
Het |
Sult2a1 |
C |
A |
7: 13,566,585 (GRCm39) |
G130V |
probably damaging |
Het |
Trim27 |
G |
A |
13: 21,375,421 (GRCm39) |
|
probably null |
Het |
Trim43b |
T |
G |
9: 88,971,481 (GRCm39) |
Q225P |
probably damaging |
Het |
Ugt2b34 |
A |
G |
5: 87,054,739 (GRCm39) |
L14P |
unknown |
Het |
Vmn1r209 |
A |
T |
13: 22,990,220 (GRCm39) |
S157T |
possibly damaging |
Het |
Vmn2r38 |
A |
T |
7: 9,078,375 (GRCm39) |
V669D |
probably damaging |
Het |
Vps35l |
T |
C |
7: 118,365,611 (GRCm39) |
S15P |
probably benign |
Het |
Zfp422 |
T |
C |
6: 116,603,912 (GRCm39) |
Q29R |
probably benign |
Het |
Zfp623 |
C |
T |
15: 75,819,119 (GRCm39) |
A25V |
probably benign |
Het |
|
Other mutations in Fndc3c1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00670:Fndc3c1
|
APN |
X |
105,489,383 (GRCm39) |
missense |
probably benign |
|
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 |
|
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 |
2016-08-02 |