Incidental Mutation 'IGL01518:Fndc3c1'
| ID |
89376 |
| 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 # |
IGL01518
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
105463647-105529007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105475029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 941
(N941S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039447]
|
| AlphaFold |
Q6DFV6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039447
AA Change: N941S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038678
Gene: ENSMUSG00000033737
AA Change: N941S
| 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 |
|---|
| 4930447F04Rik |
A |
C |
X: 65,347,660 (GRCm39) |
V16G |
unknown |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,494 (GRCm39) |
E136V |
probably benign |
Het |
| Aadac |
A |
G |
3: 59,943,320 (GRCm39) |
D75G |
probably damaging |
Het |
| Arfgap1 |
T |
A |
2: 180,614,518 (GRCm39) |
S125T |
probably benign |
Het |
| Atxn2 |
G |
T |
5: 121,949,042 (GRCm39) |
A813S |
probably damaging |
Het |
| Cadps |
C |
A |
14: 12,522,352 (GRCm38) |
S604I |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,433,480 (GRCm39) |
M1488L |
unknown |
Het |
| Fryl |
T |
C |
5: 73,244,305 (GRCm39) |
Y1172C |
possibly damaging |
Het |
| Gm1527 |
T |
C |
3: 28,949,737 (GRCm39) |
|
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,388,230 (GRCm39) |
L458P |
probably damaging |
Het |
| Il2 |
T |
C |
3: 37,177,156 (GRCm39) |
T127A |
possibly damaging |
Het |
| Inpp5e |
A |
G |
2: 26,287,946 (GRCm39) |
Y617H |
probably damaging |
Het |
| Isoc2b |
G |
A |
7: 4,853,763 (GRCm39) |
S137F |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,490 (GRCm39) |
P241S |
probably damaging |
Het |
| Mfsd6 |
C |
A |
1: 52,748,481 (GRCm39) |
R128L |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,088,462 (GRCm39) |
T153A |
probably damaging |
Het |
| Or4x6 |
A |
G |
2: 89,949,315 (GRCm39) |
F209S |
possibly damaging |
Het |
| Or8d1 |
A |
T |
9: 38,767,095 (GRCm39) |
M246L |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,098,599 (GRCm39) |
N2022S |
probably benign |
Het |
| Scrt2 |
C |
A |
2: 151,935,560 (GRCm39) |
R238S |
probably damaging |
Het |
| St3gal6 |
T |
A |
16: 58,305,138 (GRCm39) |
D108V |
probably benign |
Het |
| Tmem132b |
C |
T |
5: 125,855,855 (GRCm39) |
T529M |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,954,904 (GRCm39) |
|
probably null |
Het |
| Tspyl1 |
T |
A |
10: 34,159,195 (GRCm39) |
S307T |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,131,982 (GRCm39) |
S735G |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,221,668 (GRCm39) |
M1186V |
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 |
|
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 |
2013-12-03 |
Incidental Mutation