Incidental Mutation 'IGL03192:Fndc3c1'
| ID |
412694 |
| 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: 0.078)
|
| Stock # |
IGL03192
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
105463647-105529007 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 105479922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039447]
|
| AlphaFold |
Q6DFV6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039447
|
| SMART Domains |
Protein: ENSMUSP00000038678
Gene: ENSMUSG00000033737
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh7 |
G |
A |
3: 137,933,721 (GRCm39) |
G293S |
probably damaging |
Het |
| Ahi1 |
G |
A |
10: 20,841,534 (GRCm39) |
V274I |
probably benign |
Het |
| Arfip2 |
C |
T |
7: 105,287,150 (GRCm39) |
R138H |
probably damaging |
Het |
| Asb8 |
G |
A |
15: 98,033,776 (GRCm39) |
R260C |
possibly damaging |
Het |
| Cfh |
A |
T |
1: 140,026,759 (GRCm39) |
H531Q |
possibly damaging |
Het |
| Clcn7 |
C |
A |
17: 25,352,575 (GRCm39) |
P42Q |
probably benign |
Het |
| Cxcr6 |
G |
T |
9: 123,639,111 (GRCm39) |
K37N |
possibly damaging |
Het |
| Gramd1b |
A |
T |
9: 40,218,097 (GRCm39) |
L429H |
probably damaging |
Het |
| Grm1 |
T |
C |
10: 10,955,660 (GRCm39) |
D208G |
possibly damaging |
Het |
| H2-T24 |
C |
T |
17: 36,326,368 (GRCm39) |
W177* |
probably null |
Het |
| Il17rc |
G |
A |
6: 113,449,846 (GRCm39) |
V151M |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,950,562 (GRCm39) |
F741S |
probably damaging |
Het |
| Neil1 |
A |
G |
9: 57,050,819 (GRCm39) |
S339P |
probably benign |
Het |
| Nptx1 |
T |
A |
11: 119,437,585 (GRCm39) |
N182I |
probably benign |
Het |
| Or3a1c |
T |
A |
11: 74,046,076 (GRCm39) |
I32K |
probably benign |
Het |
| Phtf2 |
A |
G |
5: 20,966,717 (GRCm39) |
V723A |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,680,540 (GRCm39) |
M1047I |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,084,653 (GRCm39) |
I15V |
probably damaging |
Het |
| Rtbdn |
T |
A |
8: 85,679,284 (GRCm39) |
S30T |
probably benign |
Het |
| Serinc4 |
G |
T |
2: 121,282,872 (GRCm39) |
S430* |
probably null |
Het |
| Slc25a33 |
A |
G |
4: 149,829,223 (GRCm39) |
I312T |
probably damaging |
Het |
| Speer3 |
A |
G |
5: 13,841,702 (GRCm39) |
R11G |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,291,709 (GRCm39) |
|
probably benign |
Het |
| Unc93a |
A |
T |
17: 13,335,073 (GRCm39) |
Y324* |
probably null |
Het |
| Wdr31 |
A |
T |
4: 62,372,149 (GRCm39) |
D322E |
possibly damaging |
Het |
| Zbtb9 |
A |
G |
17: 27,193,272 (GRCm39) |
T226A |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,657,748 (GRCm39) |
E721G |
possibly damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation