Incidental Mutation 'IGL02971:Fsd2'
| ID |
365826 |
| 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 # |
IGL02971
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
81184102-81216729 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 81198671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 364
(Y364*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042318]
|
| AlphaFold |
Q8BZ52 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042318
AA Change: Y364*
|
| SMART Domains |
Protein: ENSMUSP00000047775
Gene: ENSMUSG00000038663
AA Change: Y364*
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930018P22Rik |
C |
T |
2: 103,953,564 (GRCm39) |
T130I |
probably benign |
Het |
| Ahi1 |
T |
C |
10: 20,876,450 (GRCm39) |
L787P |
possibly damaging |
Het |
| Atf3 |
A |
G |
1: 190,909,640 (GRCm39) |
S10P |
probably benign |
Het |
| Cdr2l |
A |
G |
11: 115,281,726 (GRCm39) |
N77S |
probably damaging |
Het |
| Cnp |
A |
G |
11: 100,467,525 (GRCm39) |
D156G |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,145,894 (GRCm39) |
D982E |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,878,587 (GRCm39) |
L190S |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,777,325 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,384,607 (GRCm39) |
D3117G |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 67,994,558 (GRCm39) |
E1834G |
probably null |
Het |
| Eea1 |
A |
G |
10: 95,877,389 (GRCm39) |
T1368A |
probably benign |
Het |
| Fam83f |
T |
C |
15: 80,556,350 (GRCm39) |
V78A |
probably benign |
Het |
| Fcgbp |
G |
A |
7: 27,800,898 (GRCm39) |
V1315I |
probably damaging |
Het |
| Gm21976 |
G |
A |
13: 98,439,057 (GRCm39) |
G16R |
probably null |
Het |
| Guca2b |
A |
G |
4: 119,514,885 (GRCm39) |
S59P |
probably damaging |
Het |
| Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
| Hdac2 |
A |
T |
10: 36,876,370 (GRCm39) |
K462* |
probably null |
Het |
| Huwe1 |
T |
A |
X: 150,710,622 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,997,611 (GRCm39) |
N262K |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,719,826 (GRCm39) |
S1502G |
probably damaging |
Het |
| Mapkapk3 |
A |
T |
9: 107,134,279 (GRCm39) |
D328E |
probably benign |
Het |
| Naca |
C |
T |
10: 127,877,437 (GRCm39) |
|
probably benign |
Het |
| Npffr1 |
T |
C |
10: 61,449,918 (GRCm39) |
V64A |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,750,682 (GRCm39) |
F671S |
probably damaging |
Het |
| Or2t49 |
A |
G |
11: 58,393,211 (GRCm39) |
L57P |
probably damaging |
Het |
| Or8b3b |
T |
A |
9: 38,584,564 (GRCm39) |
M72L |
probably damaging |
Het |
| Pcca |
A |
G |
14: 123,126,945 (GRCm39) |
D718G |
probably damaging |
Het |
| Pde6a |
A |
C |
18: 61,397,326 (GRCm39) |
D670A |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,320,417 (GRCm39) |
E292V |
probably benign |
Het |
| Prmt9 |
A |
C |
8: 78,291,698 (GRCm39) |
M357L |
probably benign |
Het |
| Ptgfr |
A |
T |
3: 151,540,963 (GRCm39) |
S182T |
probably benign |
Het |
| Rtraf |
A |
T |
14: 19,866,260 (GRCm39) |
M152K |
possibly damaging |
Het |
| Satb1 |
T |
C |
17: 52,049,717 (GRCm39) |
D579G |
possibly damaging |
Het |
| Serpinb6a |
A |
G |
13: 34,115,453 (GRCm39) |
|
probably null |
Het |
| Slc5a9 |
T |
C |
4: 111,747,497 (GRCm39) |
I297V |
possibly damaging |
Het |
| Slf1 |
T |
A |
13: 77,195,223 (GRCm39) |
|
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,616,559 (GRCm39) |
V139M |
probably damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,243 (GRCm39) |
M262V |
probably benign |
Het |
| Tmem147 |
A |
G |
7: 30,428,847 (GRCm39) |
|
probably benign |
Het |
| Tmem220 |
A |
G |
11: 66,924,933 (GRCm39) |
|
probably null |
Het |
| Uspl1 |
A |
G |
5: 149,125,156 (GRCm39) |
N35S |
possibly damaging |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,759 (GRCm39) |
I54F |
possibly damaging |
Het |
| Vmn2r121 |
T |
G |
X: 123,037,591 (GRCm39) |
I810L |
probably damaging |
Het |
| Wbp2nl |
A |
T |
15: 82,189,945 (GRCm39) |
T46S |
possibly damaging |
Het |
| Zfp955b |
T |
A |
17: 33,519,940 (GRCm39) |
M57K |
probably benign |
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 |
|
|
IGL03207:Fsd2
|
APN |
7 |
81,208,918 (GRCm39) |
missense |
probably benign |
0.28 |
|
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 |
2015-12-18 |
Incidental Mutation