Incidental Mutation 'IGL02077:Fndc7'
ID |
186012 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02077
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 108790784 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 81
(T81S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136215
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
AlphaFold |
A2AED3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053065
AA Change: T81S
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000051172 Gene: ENSMUSG00000045326 AA Change: T81S
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: T81S
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000099680 Gene: ENSMUSG00000045326 AA Change: T81S
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 |
probably benign
Transcript: ENSMUST00000180063
AA Change: T81S
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000136215 Gene: ENSMUSG00000045326 AA Change: T81S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196867
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap11a |
G |
T |
2: 113,667,816 (GRCm39) |
T395K |
possibly damaging |
Het |
Dop1b |
T |
C |
16: 93,577,648 (GRCm39) |
S58P |
probably damaging |
Het |
F5 |
T |
A |
1: 164,026,435 (GRCm39) |
V1669E |
probably damaging |
Het |
Hnf4a |
G |
T |
2: 163,404,527 (GRCm39) |
|
probably null |
Het |
Il27 |
C |
T |
7: 126,194,051 (GRCm39) |
|
probably null |
Het |
Lhcgr |
G |
A |
17: 89,057,558 (GRCm39) |
T311I |
probably benign |
Het |
Mafb |
A |
G |
2: 160,207,687 (GRCm39) |
S304P |
probably benign |
Het |
Mfrp |
C |
T |
9: 44,016,517 (GRCm39) |
T404M |
probably damaging |
Het |
Ntpcr |
T |
A |
8: 126,464,107 (GRCm39) |
Y77* |
probably null |
Het |
Otof |
A |
G |
5: 30,556,579 (GRCm39) |
S301P |
probably damaging |
Het |
Prpf6 |
G |
A |
2: 181,282,457 (GRCm39) |
G533R |
probably damaging |
Het |
Prpf8 |
T |
A |
11: 75,386,635 (GRCm39) |
H1041Q |
probably damaging |
Het |
Pyurf |
T |
C |
6: 57,666,820 (GRCm39) |
I81V |
probably benign |
Het |
Rsl1d1 |
A |
G |
16: 11,012,320 (GRCm39) |
|
probably benign |
Het |
Sema6a |
A |
T |
18: 47,416,465 (GRCm39) |
D387E |
possibly damaging |
Het |
Serpinb3a |
T |
G |
1: 106,974,111 (GRCm39) |
T267P |
probably damaging |
Het |
Tgm7 |
A |
T |
2: 120,934,316 (GRCm39) |
M192K |
probably damaging |
Het |
Thbs1 |
G |
T |
2: 117,943,591 (GRCm39) |
V70L |
probably benign |
Het |
Thsd7b |
T |
A |
1: 129,744,419 (GRCm39) |
I769N |
probably damaging |
Het |
Tlr9 |
A |
G |
9: 106,102,704 (GRCm39) |
Y665C |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,600,506 (GRCm39) |
D18928G |
probably damaging |
Het |
Uggt1 |
A |
G |
1: 36,215,875 (GRCm39) |
S131P |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,564,875 (GRCm39) |
N854S |
possibly damaging |
Het |
Vps13b |
A |
G |
15: 35,910,759 (GRCm39) |
T3508A |
possibly damaging |
Het |
Wdr43 |
G |
A |
17: 71,947,286 (GRCm39) |
A381T |
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,323,169 (GRCm39) |
M859K |
possibly damaging |
Het |
|
Other mutations in Fndc7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-05-07 |