Incidental Mutation 'R7001:Fndc7'
ID |
544526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fndc7
|
Ensembl Gene |
ENSMUSG00000045326 |
Gene Name |
fibronectin type III domain containing 7 |
Synonyms |
E230011A21Rik |
MMRRC Submission |
045106-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7001 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 108783964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 215
(A215V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
AlphaFold |
A2AED3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053065
|
SMART Domains |
Protein: ENSMUSP00000051172 Gene: ENSMUSG00000045326
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: A215V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000099680 Gene: ENSMUSG00000045326 AA Change: A215V
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 |
probably benign
Transcript: ENSMUST00000180063
AA Change: A215V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000136215 Gene: ENSMUSG00000045326 AA Change: A215V
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 |
0.1460 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
A |
3: 137,771,272 (GRCm39) |
Q154K |
probably benign |
Het |
Aldh6a1 |
T |
G |
12: 84,488,662 (GRCm39) |
T75P |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,871,230 (GRCm39) |
H98L |
probably damaging |
Het |
Ankib1 |
A |
G |
5: 3,744,781 (GRCm39) |
F800S |
probably benign |
Het |
Arhgap10 |
A |
T |
8: 78,091,717 (GRCm39) |
M434K |
possibly damaging |
Het |
Cap1 |
A |
T |
4: 122,758,408 (GRCm39) |
F257L |
probably benign |
Het |
Cdt1 |
T |
A |
8: 123,299,249 (GRCm39) |
H510Q |
probably damaging |
Het |
Clca3b |
A |
C |
3: 144,533,733 (GRCm39) |
D547E |
possibly damaging |
Het |
Col24a1 |
T |
C |
3: 145,004,627 (GRCm39) |
V35A |
probably benign |
Het |
Cyp2j13 |
A |
T |
4: 95,945,112 (GRCm39) |
N305K |
probably damaging |
Het |
D3Ertd751e |
T |
A |
3: 41,712,844 (GRCm39) |
|
probably null |
Het |
D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
Ddc |
T |
C |
11: 11,774,870 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
T |
14: 26,601,681 (GRCm39) |
Y3713F |
probably damaging |
Het |
Dock8 |
T |
A |
19: 25,077,041 (GRCm39) |
S504T |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,547,906 (GRCm39) |
F941L |
possibly damaging |
Het |
Farp2 |
A |
G |
1: 93,547,952 (GRCm39) |
N956S |
possibly damaging |
Het |
Fbxo3 |
T |
A |
2: 103,881,569 (GRCm39) |
H300Q |
probably damaging |
Het |
Fcgrt |
T |
C |
7: 44,751,466 (GRCm39) |
T131A |
probably benign |
Het |
Frem1 |
T |
C |
4: 82,904,798 (GRCm39) |
E890G |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,817,269 (GRCm39) |
P4334H |
probably damaging |
Het |
Gcdh |
C |
A |
8: 85,617,540 (GRCm39) |
V227L |
probably benign |
Het |
Gm8267 |
A |
C |
14: 44,960,385 (GRCm39) |
M120R |
possibly damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Lasp1 |
T |
G |
11: 97,697,659 (GRCm39) |
H26Q |
probably damaging |
Het |
Lrrcc1 |
T |
A |
3: 14,605,155 (GRCm39) |
I297N |
probably damaging |
Het |
Map1b |
A |
T |
13: 99,567,101 (GRCm39) |
N1873K |
unknown |
Het |
Map2 |
A |
G |
1: 66,454,646 (GRCm39) |
I1179V |
probably benign |
Het |
Mtss1 |
A |
C |
15: 58,820,183 (GRCm39) |
|
probably benign |
Het |
Mtus2 |
A |
G |
5: 148,214,438 (GRCm39) |
E28G |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,217,320 (GRCm39) |
T2386I |
probably damaging |
Het |
Myo3a |
G |
T |
2: 22,337,188 (GRCm39) |
V362L |
probably benign |
Het |
N6amt1 |
G |
A |
16: 87,151,180 (GRCm39) |
V14M |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,382,349 (GRCm39) |
|
probably null |
Het |
Nol6 |
A |
G |
4: 41,121,279 (GRCm39) |
S326P |
probably benign |
Het |
Olr1 |
T |
A |
6: 129,465,074 (GRCm39) |
E100V |
probably damaging |
Het |
Or52ab4 |
A |
G |
7: 102,987,428 (GRCm39) |
S56G |
possibly damaging |
Het |
Or8k37 |
A |
T |
2: 86,469,495 (GRCm39) |
S186T |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,230,479 (GRCm39) |
Y119H |
probably damaging |
Het |
Prb1b |
C |
T |
6: 132,289,527 (GRCm39) |
G99E |
unknown |
Het |
Ryr2 |
A |
T |
13: 11,809,491 (GRCm39) |
M778K |
probably damaging |
Het |
Serpina3n |
G |
T |
12: 104,375,184 (GRCm39) |
M85I |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,772,748 (GRCm39) |
F390L |
probably damaging |
Het |
Sf3b1 |
A |
G |
1: 55,040,205 (GRCm39) |
V591A |
probably damaging |
Het |
Sf3b1 |
A |
G |
1: 55,053,640 (GRCm39) |
|
probably null |
Het |
Slc26a5 |
C |
T |
5: 22,016,334 (GRCm39) |
V646I |
probably damaging |
Het |
Slitrk3 |
T |
A |
3: 72,957,942 (GRCm39) |
K277* |
probably null |
Het |
Sv2c |
A |
G |
13: 96,118,461 (GRCm39) |
S463P |
probably benign |
Het |
Tbc1d4 |
G |
A |
14: 101,696,185 (GRCm39) |
T858M |
probably benign |
Het |
Tbx18 |
T |
A |
9: 87,609,457 (GRCm39) |
I193F |
probably damaging |
Het |
Tm6sf2 |
A |
C |
8: 70,530,982 (GRCm39) |
D245A |
probably damaging |
Het |
Unc119 |
T |
C |
11: 78,239,380 (GRCm39) |
Y234H |
probably damaging |
Het |
Wrn |
A |
T |
8: 33,842,157 (GRCm39) |
S46T |
probably benign |
Het |
Zfp729a |
A |
T |
13: 67,768,468 (GRCm39) |
I587K |
probably benign |
Het |
Zfp872 |
C |
A |
9: 22,111,912 (GRCm39) |
H464N |
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 |
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 |
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'- TTGGTGCAGAGCAGGACTTG -3'
(R):5'- ATGGCCATGAGGTTATCAATCC -3'
Sequencing Primer
(F):5'- AGGACTTGCTGGACCCAG -3'
(R):5'- ATGAGGTTATCAATCCCCAGAC -3'
|
Posted On |
2019-05-13 |