Incidental Mutation 'R5638:Fndc7'
ID |
440478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fndc7
|
Ensembl Gene |
ENSMUSG00000045326 |
Gene Name |
fibronectin type III domain containing 7 |
Synonyms |
E230011A21Rik |
MMRRC Submission |
043168-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5638 (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 A
at 108770208 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 659
(T659S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
AlphaFold |
A2AED3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053065
AA Change: T573S
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000051172 Gene: ENSMUSG00000045326 AA Change: T573S
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 |
possibly damaging
Transcript: ENSMUST00000102620
AA Change: T659S
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099680 Gene: ENSMUSG00000045326 AA Change: T659S
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 |
possibly damaging
Transcript: ENSMUST00000180063
AA Change: T659S
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136215 Gene: ENSMUSG00000045326 AA Change: T659S
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
G |
A |
10: 76,288,729 (GRCm39) |
A96T |
probably benign |
Het |
A930018M24Rik |
T |
C |
14: 51,134,414 (GRCm39) |
D76G |
possibly damaging |
Het |
Adamtsl3 |
A |
T |
7: 82,260,958 (GRCm39) |
R1631W |
probably damaging |
Het |
Alg5 |
C |
T |
3: 54,646,254 (GRCm39) |
H40Y |
probably benign |
Het |
B3galt1 |
T |
C |
2: 67,949,095 (GRCm39) |
L270P |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,893,860 (GRCm39) |
Y457C |
probably damaging |
Het |
Cenpa |
A |
T |
5: 30,830,736 (GRCm39) |
R124W |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,275,894 (GRCm39) |
T1385A |
possibly damaging |
Het |
Chd9 |
A |
T |
8: 91,738,078 (GRCm39) |
H1570L |
possibly damaging |
Het |
Cmtm4 |
T |
C |
8: 105,084,356 (GRCm39) |
I113V |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 50,024,693 (GRCm39) |
I1789T |
possibly damaging |
Het |
Dpf3 |
G |
A |
12: 83,371,714 (GRCm39) |
R174W |
probably damaging |
Het |
Dusp26 |
T |
C |
8: 31,584,169 (GRCm39) |
L92P |
probably damaging |
Het |
Fry |
A |
G |
5: 150,282,546 (GRCm39) |
H357R |
possibly damaging |
Het |
G0s2 |
A |
T |
1: 192,954,859 (GRCm39) |
L75H |
probably damaging |
Het |
Gm5493 |
A |
G |
17: 22,969,065 (GRCm39) |
T82A |
probably benign |
Het |
Herc2 |
T |
C |
7: 55,854,164 (GRCm39) |
V3690A |
probably benign |
Het |
Igf2bp3 |
C |
A |
6: 49,064,734 (GRCm39) |
V537F |
probably damaging |
Het |
Kntc1 |
C |
T |
5: 123,956,538 (GRCm39) |
R2101W |
possibly damaging |
Het |
Kpna2rt |
T |
C |
17: 90,217,635 (GRCm39) |
E37G |
probably damaging |
Het |
Mrgpra6 |
G |
T |
7: 46,835,657 (GRCm39) |
P255T |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,125,364 (GRCm39) |
V229A |
probably benign |
Het |
Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
Or6c210 |
T |
A |
10: 129,495,969 (GRCm39) |
I98K |
possibly damaging |
Het |
Or7g21 |
T |
A |
9: 19,032,676 (GRCm39) |
C142S |
probably benign |
Het |
Ppt2 |
C |
A |
17: 34,844,823 (GRCm39) |
M140I |
probably benign |
Het |
Ppwd1 |
A |
G |
13: 104,356,906 (GRCm39) |
I203T |
probably damaging |
Het |
Prpf6 |
A |
G |
2: 181,287,381 (GRCm39) |
T589A |
probably benign |
Het |
Psd4 |
T |
C |
2: 24,287,427 (GRCm39) |
L453P |
probably benign |
Het |
Ptpn14 |
A |
G |
1: 189,519,038 (GRCm39) |
T23A |
probably damaging |
Het |
Rxrb |
T |
C |
17: 34,256,381 (GRCm39) |
L374P |
probably damaging |
Het |
Scaf4 |
T |
C |
16: 90,041,198 (GRCm39) |
E710G |
unknown |
Het |
Sik1 |
C |
T |
17: 32,069,802 (GRCm39) |
V216I |
probably damaging |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Slc30a5 |
T |
A |
13: 100,950,380 (GRCm39) |
K236* |
probably null |
Het |
Slc38a4 |
A |
C |
15: 96,910,871 (GRCm39) |
S135A |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,139,571 (GRCm39) |
V263D |
probably damaging |
Het |
Socs2 |
T |
C |
10: 95,228,745 (GRCm39) |
I168M |
unknown |
Het |
Spag9 |
C |
A |
11: 93,959,838 (GRCm39) |
D342E |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,469,825 (GRCm39) |
S4508P |
possibly damaging |
Het |
Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
Stip1 |
G |
A |
19: 7,009,883 (GRCm39) |
P213L |
probably damaging |
Het |
Tarbp1 |
A |
T |
8: 127,177,425 (GRCm39) |
L749Q |
probably damaging |
Het |
Thsd7b |
T |
G |
1: 129,523,270 (GRCm39) |
S24R |
probably benign |
Het |
Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
Vmn2r65 |
C |
T |
7: 84,590,047 (GRCm39) |
C623Y |
probably damaging |
Het |
Vps54 |
T |
C |
11: 21,258,799 (GRCm39) |
V742A |
probably 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 |
R4650:Fndc7
|
UTSW |
3 |
108,770,135 (GRCm39) |
missense |
probably benign |
0.15 |
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 |
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'- GGTCCTAACTGCCTTTACCTGAG -3'
(R):5'- ACCTTGCTCTGTTCTAACTAGG -3'
Sequencing Primer
(F):5'- CATCACGGTGTAAACGTC -3'
(R):5'- CTGTGCAGAAGATTCTACTTGTC -3'
|
Posted On |
2016-11-08 |