Incidental Mutation 'R3801:Fndc7'
ID |
272966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fndc7
|
Ensembl Gene |
ENSMUSG00000045326 |
Gene Name |
fibronectin type III domain containing 7 |
Synonyms |
E230011A21Rik |
MMRRC Submission |
040760-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3801 (G1)
|
Quality Score |
177 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108776464 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 526
(T526A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099680
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
AlphaFold |
A2AED3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053065
AA Change: T440A
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000051172 Gene: ENSMUSG00000045326 AA Change: T440A
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: T526A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099680 Gene: ENSMUSG00000045326 AA Change: T526A
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: ENSMUST00000139137
|
SMART Domains |
Protein: ENSMUSP00000117562 Gene: ENSMUSG00000045326
Domain | Start | End | E-Value | Type |
Blast:FN3
|
1 |
123 |
3e-27 |
BLAST |
SCOP:d1f6fb2
|
3 |
64 |
3e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147002
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180063
AA Change: T526A
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000136215 Gene: ENSMUSG00000045326 AA Change: T526A
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
C |
T |
8: 79,974,922 (GRCm39) |
E54K |
probably benign |
Het |
Als2 |
A |
C |
1: 59,206,358 (GRCm39) |
M1634R |
probably damaging |
Het |
Ankfy1 |
T |
C |
11: 72,640,246 (GRCm39) |
S531P |
probably benign |
Het |
Atp6v1e1 |
A |
G |
6: 120,778,020 (GRCm39) |
Y172H |
probably benign |
Het |
Brd1 |
C |
T |
15: 88,601,243 (GRCm39) |
V464M |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,963,948 (GRCm39) |
T840S |
probably benign |
Het |
Btaf1 |
A |
T |
19: 36,966,373 (GRCm39) |
H1047L |
probably benign |
Het |
Cacnb2 |
A |
G |
2: 14,829,074 (GRCm39) |
D3G |
possibly damaging |
Het |
Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
Cgrrf1 |
G |
T |
14: 47,069,820 (GRCm39) |
G30C |
probably damaging |
Het |
Crnkl1 |
T |
C |
2: 145,761,715 (GRCm39) |
D614G |
probably benign |
Het |
Cyp2c23 |
C |
T |
19: 43,995,478 (GRCm39) |
V430I |
probably benign |
Het |
Dazl |
G |
A |
17: 50,588,309 (GRCm39) |
R289W |
probably benign |
Het |
Dsg1b |
C |
T |
18: 20,523,260 (GRCm39) |
P96S |
probably damaging |
Het |
Dusp14 |
A |
G |
11: 83,939,535 (GRCm39) |
S169P |
possibly damaging |
Het |
Egfem1 |
A |
G |
3: 29,206,075 (GRCm39) |
D91G |
probably benign |
Het |
Eif1 |
A |
G |
11: 100,211,650 (GRCm39) |
K95E |
probably damaging |
Het |
Fap |
C |
T |
2: 62,376,994 (GRCm39) |
V191I |
probably benign |
Het |
Flnc |
T |
C |
6: 29,447,403 (GRCm39) |
Y1069H |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,881,791 (GRCm39) |
T2508S |
probably benign |
Het |
Gast |
T |
C |
11: 100,227,636 (GRCm39) |
S73P |
probably damaging |
Het |
Grap2 |
A |
G |
15: 80,507,947 (GRCm39) |
T4A |
possibly damaging |
Het |
Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
Hyal5 |
A |
T |
6: 24,876,523 (GRCm39) |
H132L |
probably benign |
Het |
Iqcm |
C |
A |
8: 76,396,021 (GRCm39) |
T188K |
possibly damaging |
Het |
Kank4 |
A |
G |
4: 98,668,370 (GRCm39) |
S26P |
probably damaging |
Het |
Lipo3 |
C |
T |
19: 33,762,257 (GRCm39) |
C80Y |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,621,314 (GRCm39) |
R963G |
probably benign |
Het |
Lrtm2 |
G |
A |
6: 119,294,444 (GRCm39) |
T229I |
probably damaging |
Het |
Mb21d2 |
A |
T |
16: 28,646,755 (GRCm39) |
D406E |
possibly damaging |
Het |
Meikin |
T |
A |
11: 54,290,697 (GRCm39) |
|
probably null |
Het |
Mybl1 |
A |
T |
1: 9,743,439 (GRCm39) |
F538I |
probably damaging |
Het |
Nectin2 |
T |
C |
7: 19,451,561 (GRCm39) |
D491G |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,450,347 (GRCm39) |
D511G |
probably null |
Het |
Nid2 |
T |
C |
14: 19,860,065 (GRCm39) |
C1328R |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 71,013,529 (GRCm39) |
M574L |
probably benign |
Het |
Nrap |
C |
T |
19: 56,310,211 (GRCm39) |
D1595N |
probably damaging |
Het |
Nrg3 |
G |
A |
14: 38,098,391 (GRCm39) |
P496S |
probably damaging |
Het |
Or4k41 |
A |
T |
2: 111,279,910 (GRCm39) |
I142F |
probably benign |
Het |
Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
Phkb |
G |
T |
8: 86,648,858 (GRCm39) |
E225* |
probably null |
Het |
Plaa |
T |
C |
4: 94,458,125 (GRCm39) |
D615G |
probably damaging |
Het |
Prdm12 |
A |
G |
2: 31,541,959 (GRCm39) |
K223E |
probably damaging |
Het |
Prkd1 |
C |
A |
12: 50,430,205 (GRCm39) |
R634L |
possibly damaging |
Het |
Rassf3 |
T |
A |
10: 121,250,271 (GRCm39) |
I181F |
possibly damaging |
Het |
Samd8 |
G |
A |
14: 21,825,133 (GRCm39) |
V30M |
probably damaging |
Het |
Sema4f |
A |
T |
6: 82,895,608 (GRCm39) |
H308Q |
possibly damaging |
Het |
Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Slpi |
A |
G |
2: 164,198,158 (GRCm39) |
L12P |
probably damaging |
Het |
Smco1 |
A |
G |
16: 32,092,716 (GRCm39) |
Y129C |
probably benign |
Het |
Spag17 |
A |
G |
3: 99,961,169 (GRCm39) |
K985R |
possibly damaging |
Het |
Stc1 |
T |
C |
14: 69,275,924 (GRCm39) |
I239T |
probably benign |
Het |
Suclg2 |
A |
T |
6: 95,474,649 (GRCm39) |
I372N |
probably damaging |
Het |
Tmed4 |
C |
A |
11: 6,224,233 (GRCm39) |
V80F |
probably damaging |
Het |
Tnpo2 |
T |
A |
8: 85,781,800 (GRCm39) |
|
probably null |
Het |
Top1 |
A |
G |
2: 160,544,688 (GRCm39) |
H268R |
probably damaging |
Het |
Triobp |
A |
T |
15: 78,857,900 (GRCm39) |
Q1167L |
probably benign |
Het |
Txndc16 |
G |
A |
14: 45,388,809 (GRCm39) |
P536L |
possibly damaging |
Het |
Usp13 |
C |
T |
3: 32,935,657 (GRCm39) |
A360V |
possibly damaging |
Het |
Vhl |
G |
A |
6: 113,606,423 (GRCm39) |
V147I |
probably benign |
Het |
Vldlr |
A |
T |
19: 27,195,021 (GRCm39) |
T3S |
probably damaging |
Het |
Vps54 |
T |
A |
11: 21,218,832 (GRCm39) |
D130E |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
Zfp87 |
A |
T |
13: 67,669,334 (GRCm39) |
N37K |
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 |
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 |
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'- TGGGCAAGACAAGAGACTTC -3'
(R):5'- GCATTCTCCATGATCAATGTGC -3'
Sequencing Primer
(F):5'- TTTTCCCCTCGAAGAATGGGGC -3'
(R):5'- CATGATCAATGTGCACTGGC -3'
|
Posted On |
2015-03-25 |