Incidental Mutation 'R6623:Fndc3c1'
| ID |
524641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc3c1
|
| Ensembl Gene |
ENSMUSG00000033737 |
| Gene Name |
fibronectin type III domain containing 3C1 |
| Synonyms |
LOC333564 |
| MMRRC Submission |
044745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R6623 (G1)
|
| Quality Score |
221.999 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
105463647-105529007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 105478679 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Leucine to Valine
at position 724
(L724V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038678
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039447]
|
| AlphaFold |
Q6DFV6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039447
AA Change: L724V
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038678
Gene: ENSMUSG00000033737
AA Change: L724V
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,634,388 (GRCm39) |
K460E |
probably damaging |
Het |
| Acaca |
A |
C |
11: 84,262,325 (GRCm39) |
|
probably null |
Het |
| Adamts1 |
A |
G |
16: 85,592,525 (GRCm39) |
S628P |
probably benign |
Het |
| Ankrd13a |
A |
G |
5: 114,924,818 (GRCm39) |
N101S |
probably benign |
Het |
| Asic5 |
G |
A |
3: 81,915,892 (GRCm39) |
V281M |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,099,972 (GRCm38) |
S553P |
probably damaging |
Het |
| Cstdc2 |
A |
T |
2: 148,692,682 (GRCm39) |
I40K |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,634,057 (GRCm39) |
F843S |
probably benign |
Het |
| Igkv10-96 |
T |
G |
6: 68,609,158 (GRCm39) |
S46R |
probably damaging |
Het |
| Itfg2 |
G |
T |
6: 128,388,620 (GRCm39) |
A289D |
probably damaging |
Het |
| Klc1 |
C |
A |
12: 111,772,475 (GRCm39) |
N597K |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,961,297 (GRCm39) |
V545A |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,745,631 (GRCm39) |
I344V |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myrf |
C |
A |
19: 10,200,723 (GRCm39) |
A317S |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,251,521 (GRCm39) |
C251S |
probably damaging |
Het |
| Or52i2 |
T |
G |
7: 102,319,241 (GRCm39) |
M38R |
possibly damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,570,711 (GRCm39) |
T619I |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,299,753 (GRCm39) |
M1672K |
probably damaging |
Het |
| Prl |
G |
T |
13: 27,245,492 (GRCm39) |
V72L |
probably benign |
Het |
| Prokr2 |
G |
T |
2: 132,215,494 (GRCm39) |
N161K |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,724,951 (GRCm39) |
D2454G |
probably damaging |
Het |
| Slc2a12 |
T |
A |
10: 22,540,799 (GRCm39) |
M218K |
probably damaging |
Het |
| Sorcs3 |
C |
T |
19: 48,776,944 (GRCm39) |
A992V |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,682,561 (GRCm39) |
I50T |
probably damaging |
Het |
| Supt20 |
A |
G |
3: 54,625,715 (GRCm39) |
I570M |
possibly damaging |
Het |
| Sv2b |
T |
A |
7: 74,856,132 (GRCm39) |
I53F |
probably damaging |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,991 (GRCm39) |
M261K |
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,846 (GRCm39) |
I19F |
possibly damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,474,500 (GRCm39) |
T843A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,056,309 (GRCm39) |
I610L |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGAATGGTTCACATGCAAATG -3'
(R):5'- CCAGATGTCCCTCAACAGAG -3'
Sequencing Primer
(F):5'- GCTTAGTGAAATTGCAGGCAGATTTC -3'
(R):5'- TTCATGCAGCTGACTCT -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation