Incidental Mutation 'IGL03207:Fsd2'
| ID |
413170 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fsd2
|
| Ensembl Gene |
ENSMUSG00000038663 |
| Gene Name |
fibronectin type III and SPRY domain containing 2 |
| Synonyms |
9830160G03Rik, Spryd1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03207
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
81184102-81216729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81208918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 187
(M187V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042318]
|
| AlphaFold |
Q8BZ52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042318
AA Change: M187V
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000047775
Gene: ENSMUSG00000038663
AA Change: M187V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
102 |
121 |
N/A |
INTRINSIC |
|
coiled coil region
|
204 |
231 |
N/A |
INTRINSIC |
|
FN3
|
315 |
400 |
7.34e-9 |
SMART |
|
FN3
|
412 |
494 |
2e-1 |
SMART |
|
Pfam:PRY
|
509 |
558 |
8.6e-9 |
PFAM |
|
Pfam:SPRY
|
564 |
683 |
2.8e-12 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,255,017 (GRCm39) |
|
probably null |
Het |
| Agt |
A |
G |
8: 125,286,107 (GRCm39) |
F325S |
probably damaging |
Het |
| Arnt2 |
T |
C |
7: 83,993,042 (GRCm39) |
E166G |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,004,145 (GRCm39) |
I1619T |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,307 (GRCm39) |
D733G |
probably damaging |
Het |
| Capn2 |
T |
G |
1: 182,316,578 (GRCm39) |
T294P |
possibly damaging |
Het |
| Cd74 |
A |
G |
18: 60,944,996 (GRCm39) |
|
probably benign |
Het |
| Eno4 |
T |
C |
19: 58,941,637 (GRCm39) |
L185P |
probably benign |
Het |
| Exoc5 |
G |
A |
14: 49,270,832 (GRCm39) |
P398S |
probably benign |
Het |
| Lrfn5 |
C |
T |
12: 61,890,112 (GRCm39) |
T467M |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,385 (GRCm39) |
I94T |
possibly damaging |
Het |
| Nuak1 |
A |
C |
10: 84,275,993 (GRCm39) |
F77V |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,206,092 (GRCm39) |
|
probably benign |
Het |
| Or5ar1 |
A |
G |
2: 85,671,317 (GRCm39) |
W273R |
probably benign |
Het |
| Ppp3cc |
T |
A |
14: 70,485,031 (GRCm39) |
I208F |
probably damaging |
Het |
| Prrc1 |
G |
A |
18: 57,522,389 (GRCm39) |
R407Q |
probably benign |
Het |
| Ror1 |
G |
A |
4: 100,265,142 (GRCm39) |
|
probably null |
Het |
| Tmem161b |
T |
A |
13: 84,442,714 (GRCm39) |
|
probably benign |
Het |
| Wdr35 |
C |
A |
12: 9,039,936 (GRCm39) |
A347E |
probably damaging |
Het |
|
| Other mutations in Fsd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01746:Fsd2
|
APN |
7 |
81,202,755 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02012:Fsd2
|
APN |
7 |
81,199,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02061:Fsd2
|
APN |
7 |
81,190,172 (GRCm39) |
nonsense |
probably null |
|
|
IGL02971:Fsd2
|
APN |
7 |
81,198,671 (GRCm39) |
nonsense |
probably null |
|
|
IGL03344:Fsd2
|
APN |
7 |
81,209,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0142:Fsd2
|
UTSW |
7 |
81,209,683 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0540:Fsd2
|
UTSW |
7 |
81,194,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Fsd2
|
UTSW |
7 |
81,194,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0846:Fsd2
|
UTSW |
7 |
81,190,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0863:Fsd2
|
UTSW |
7 |
81,191,913 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1172:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
|
R1173:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
|
R1175:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
|
R1438:Fsd2
|
UTSW |
7 |
81,198,621 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1456:Fsd2
|
UTSW |
7 |
81,209,339 (GRCm39) |
nonsense |
probably null |
|
|
R1717:Fsd2
|
UTSW |
7 |
81,184,857 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1987:Fsd2
|
UTSW |
7 |
81,209,407 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2698:Fsd2
|
UTSW |
7 |
81,195,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4108:Fsd2
|
UTSW |
7 |
81,194,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4165:Fsd2
|
UTSW |
7 |
81,195,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4335:Fsd2
|
UTSW |
7 |
81,191,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4570:Fsd2
|
UTSW |
7 |
81,209,518 (GRCm39) |
missense |
probably benign |
|
|
R4707:Fsd2
|
UTSW |
7 |
81,209,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4741:Fsd2
|
UTSW |
7 |
81,201,643 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4863:Fsd2
|
UTSW |
7 |
81,202,712 (GRCm39) |
missense |
probably null |
0.91 |
|
R5281:Fsd2
|
UTSW |
7 |
81,202,733 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5898:Fsd2
|
UTSW |
7 |
81,186,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6812:Fsd2
|
UTSW |
7 |
81,184,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7367:Fsd2
|
UTSW |
7 |
81,184,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Fsd2
|
UTSW |
7 |
81,209,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8717:Fsd2
|
UTSW |
7 |
81,190,090 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8928:Fsd2
|
UTSW |
7 |
81,209,354 (GRCm39) |
missense |
probably benign |
|
|
R8987:Fsd2
|
UTSW |
7 |
81,209,766 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9678:Fsd2
|
UTSW |
7 |
81,209,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fsd2
|
UTSW |
7 |
81,202,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fsd2
|
UTSW |
7 |
81,209,500 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2016-08-02 |
Incidental Mutation