Incidental Mutation 'R4650:Fndc7'
| ID |
351205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc7
|
| Ensembl Gene |
ENSMUSG00000045326 |
| Gene Name |
fibronectin type III domain containing 7 |
| Synonyms |
E230011A21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4650 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108770135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 597
(N597S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
| AlphaFold |
A2AED3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053065
AA Change: N597S
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: N597S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
FN3
|
29 |
102 |
2.62e-5 |
SMART |
|
FN3
|
113 |
189 |
1.31e-5 |
SMART |
|
Blast:FN3
|
201 |
274 |
9e-44 |
BLAST |
|
FN3
|
283 |
360 |
1.07e-1 |
SMART |
|
FN3
|
457 |
530 |
5.1e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102620
AA Change: N683S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: N683S
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
29 |
102 |
2.62e-5 |
SMART |
|
FN3
|
113 |
189 |
1.31e-5 |
SMART |
|
FN3
|
201 |
275 |
2.44e-5 |
SMART |
|
Blast:FN3
|
287 |
360 |
1e-43 |
BLAST |
|
FN3
|
369 |
446 |
1.07e-1 |
SMART |
|
FN3
|
543 |
616 |
5.1e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151713
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180063
AA Change: N683S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: N683S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
FN3
|
29 |
102 |
2.62e-5 |
SMART |
|
FN3
|
113 |
189 |
1.31e-5 |
SMART |
|
FN3
|
201 |
275 |
2.44e-5 |
SMART |
|
Blast:FN3
|
287 |
360 |
2e-43 |
BLAST |
|
FN3
|
369 |
446 |
1.07e-1 |
SMART |
|
FN3
|
543 |
616 |
5.1e1 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110025L11Rik |
T |
A |
16: 88,860,603 (GRCm39) |
Y77F |
unknown |
Het |
| 4933409G03Rik |
G |
A |
2: 68,436,559 (GRCm39) |
E168K |
unknown |
Het |
| Aldoa |
A |
G |
7: 126,396,879 (GRCm39) |
S71P |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,893,266 (GRCm39) |
V979A |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,739,752 (GRCm39) |
T674A |
probably benign |
Het |
| Cacna1d |
C |
T |
14: 29,817,365 (GRCm39) |
M1232I |
probably benign |
Het |
| Capza1 |
A |
G |
3: 104,752,296 (GRCm39) |
V14A |
probably damaging |
Het |
| Cdk2 |
A |
T |
10: 128,538,364 (GRCm39) |
I135N |
probably damaging |
Het |
| Celf4 |
A |
T |
18: 25,629,302 (GRCm39) |
M407K |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,392,235 (GRCm39) |
D532E |
probably benign |
Het |
| Cideb |
A |
G |
14: 55,992,688 (GRCm39) |
V76A |
possibly damaging |
Het |
| Dbpht2 |
C |
G |
12: 74,345,933 (GRCm39) |
|
noncoding transcript |
Het |
| Dis3l2 |
A |
G |
1: 86,918,043 (GRCm39) |
D550G |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,006,844 (GRCm39) |
|
probably null |
Het |
| Edc4 |
T |
A |
8: 106,619,307 (GRCm39) |
L1293* |
probably null |
Het |
| Elp5 |
A |
G |
11: 69,860,398 (GRCm39) |
V203A |
possibly damaging |
Het |
| Gjb3 |
T |
C |
4: 127,220,484 (GRCm39) |
Y16C |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,680,712 (GRCm39) |
D128G |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,363,025 (GRCm39) |
|
probably null |
Het |
| Gon4l |
G |
A |
3: 88,770,859 (GRCm39) |
D514N |
possibly damaging |
Het |
| Grhl3 |
T |
A |
4: 135,276,547 (GRCm39) |
|
probably null |
Het |
| Hoxc10 |
T |
C |
15: 102,875,698 (GRCm39) |
S136P |
probably benign |
Het |
| Ift22 |
G |
A |
5: 136,940,655 (GRCm39) |
V107I |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lamc1 |
T |
G |
1: 153,104,523 (GRCm39) |
S59R |
probably damaging |
Het |
| Lgi4 |
G |
A |
7: 30,768,554 (GRCm39) |
A518T |
probably benign |
Het |
| Lhx2 |
T |
A |
2: 38,250,052 (GRCm39) |
N290K |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,013,734 (GRCm39) |
C1092S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,412 (GRCm39) |
I2450V |
probably benign |
Het |
| Mefv |
A |
G |
16: 3,535,682 (GRCm39) |
L82P |
probably damaging |
Het |
| Myb |
A |
G |
10: 21,028,840 (GRCm39) |
L86P |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,977,270 (GRCm39) |
T333M |
probably damaging |
Het |
| Nek11 |
T |
C |
9: 105,225,279 (GRCm39) |
N78D |
possibly damaging |
Het |
| Nmi |
C |
A |
2: 51,838,646 (GRCm39) |
C296F |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,181,895 (GRCm39) |
T1163S |
probably benign |
Het |
| Npy4r |
C |
T |
14: 33,868,181 (GRCm39) |
G369D |
possibly damaging |
Het |
| Ola1 |
T |
C |
2: 72,972,309 (GRCm39) |
T221A |
probably damaging |
Het |
| Or51d1 |
A |
G |
7: 102,348,027 (GRCm39) |
D194G |
probably damaging |
Het |
| Or8c11 |
T |
C |
9: 38,289,699 (GRCm39) |
F168S |
probably damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,633,200 (GRCm39) |
N184K |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,513,088 (GRCm39) |
V129A |
probably benign |
Het |
| Prps2 |
T |
C |
X: 166,135,288 (GRCm39) |
D183G |
probably damaging |
Het |
| Pth |
A |
T |
7: 112,985,026 (GRCm39) |
*116K |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,112,181 (GRCm39) |
S422P |
probably damaging |
Het |
| Rhox2a |
G |
C |
X: 36,508,962 (GRCm39) |
R43P |
probably benign |
Het |
| Rwdd3 |
A |
G |
3: 120,952,826 (GRCm39) |
F55S |
probably damaging |
Het |
| Serpinb9d |
A |
T |
13: 33,386,836 (GRCm39) |
L301F |
probably benign |
Het |
| Slc35e4 |
A |
G |
11: 3,862,677 (GRCm39) |
C171R |
probably damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,758,424 (GRCm39) |
I529K |
possibly damaging |
Het |
| Styk1 |
A |
T |
6: 131,277,532 (GRCm39) |
W370R |
probably damaging |
Het |
| Tmprss11e |
C |
A |
5: 86,875,212 (GRCm39) |
W18L |
probably damaging |
Het |
| Trpv1 |
A |
C |
11: 73,129,089 (GRCm39) |
E2A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,261,035 (GRCm39) |
I1799N |
probably damaging |
Het |
| Vmn1r213 |
G |
A |
13: 23,196,422 (GRCm39) |
C335Y |
possibly damaging |
Het |
| Vps37c |
C |
T |
19: 10,690,273 (GRCm39) |
S245L |
probably benign |
Het |
| Wrn |
T |
C |
8: 33,745,537 (GRCm39) |
T1191A |
probably benign |
Het |
| Zfp13 |
A |
G |
17: 23,799,112 (GRCm39) |
L153P |
probably damaging |
Het |
| Zfp472 |
T |
G |
17: 33,196,631 (GRCm39) |
S235R |
possibly damaging |
Het |
|
| Other mutations in Fndc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02077:Fndc7
|
APN |
3 |
108,790,784 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02823:Fndc7
|
APN |
3 |
108,776,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02896:Fndc7
|
APN |
3 |
108,770,247 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03196:Fndc7
|
APN |
3 |
108,790,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Fndc7
|
APN |
3 |
108,774,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03377:Fndc7
|
APN |
3 |
108,783,848 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0240:Fndc7
|
UTSW |
3 |
108,766,235 (GRCm39) |
splice site |
probably benign |
|
|
R0324:Fndc7
|
UTSW |
3 |
108,784,015 (GRCm39) |
splice site |
probably null |
|
|
R0457:Fndc7
|
UTSW |
3 |
108,783,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0630:Fndc7
|
UTSW |
3 |
108,783,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0891:Fndc7
|
UTSW |
3 |
108,777,904 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1752:Fndc7
|
UTSW |
3 |
108,776,646 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1772:Fndc7
|
UTSW |
3 |
108,777,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1923:Fndc7
|
UTSW |
3 |
108,784,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1957:Fndc7
|
UTSW |
3 |
108,790,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3801:Fndc7
|
UTSW |
3 |
108,776,464 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4592:Fndc7
|
UTSW |
3 |
108,766,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Fndc7
|
UTSW |
3 |
108,770,135 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4791:Fndc7
|
UTSW |
3 |
108,783,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4933:Fndc7
|
UTSW |
3 |
108,783,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5004:Fndc7
|
UTSW |
3 |
108,790,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Fndc7
|
UTSW |
3 |
108,770,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Fndc7
|
UTSW |
3 |
108,788,663 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5175:Fndc7
|
UTSW |
3 |
108,776,482 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5325:Fndc7
|
UTSW |
3 |
108,790,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5571:Fndc7
|
UTSW |
3 |
108,763,724 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5638:Fndc7
|
UTSW |
3 |
108,770,208 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5846:Fndc7
|
UTSW |
3 |
108,788,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Fndc7
|
UTSW |
3 |
108,777,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6737:Fndc7
|
UTSW |
3 |
108,779,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6993:Fndc7
|
UTSW |
3 |
108,783,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6998:Fndc7
|
UTSW |
3 |
108,783,964 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6999:Fndc7
|
UTSW |
3 |
108,783,964 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7000:Fndc7
|
UTSW |
3 |
108,783,964 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7001:Fndc7
|
UTSW |
3 |
108,783,964 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7181:Fndc7
|
UTSW |
3 |
108,788,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7324:Fndc7
|
UTSW |
3 |
108,779,537 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7425:Fndc7
|
UTSW |
3 |
108,783,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7631:Fndc7
|
UTSW |
3 |
108,776,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Fndc7
|
UTSW |
3 |
108,770,129 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7713:Fndc7
|
UTSW |
3 |
108,777,979 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7909:Fndc7
|
UTSW |
3 |
108,770,232 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7946:Fndc7
|
UTSW |
3 |
108,779,452 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8023:Fndc7
|
UTSW |
3 |
108,774,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Fndc7
|
UTSW |
3 |
108,779,622 (GRCm39) |
nonsense |
probably null |
|
|
R8708:Fndc7
|
UTSW |
3 |
108,774,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9325:Fndc7
|
UTSW |
3 |
108,790,834 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9608:Fndc7
|
UTSW |
3 |
108,774,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Fndc7
|
UTSW |
3 |
108,790,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAACTCTGTAGACCAGGCTG -3'
(R):5'- CCTATAGGTGTCTGTTGCCC -3'
Sequencing Primer
(F):5'- AGAAATCCGCCTGCCTCTG -3'
(R):5'- CCACTGGGGGTCAAATTATATAGGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation