Incidental Mutation 'IGL03063:Spon1'
ID |
409550 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spon1
|
Ensembl Gene |
ENSMUSG00000038156 |
Gene Name |
spondin 1, (f-spondin) extracellular matrix protein |
Synonyms |
FSP, D330035F22Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.821)
|
Stock # |
IGL03063
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
113365235-113642605 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 113632260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 528
(V528M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046687]
|
AlphaFold |
Q8VCC9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046687
AA Change: V528M
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000041157 Gene: ENSMUSG00000038156 AA Change: V528M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:Reeler
|
44 |
172 |
1e-24 |
PFAM |
Pfam:Spond_N
|
205 |
399 |
7.5e-74 |
PFAM |
low complexity region
|
431 |
442 |
N/A |
INTRINSIC |
TSP1
|
445 |
495 |
7.92e-8 |
SMART |
TSP1
|
504 |
555 |
6.57e-14 |
SMART |
TSP1
|
561 |
611 |
2.29e-13 |
SMART |
TSP1
|
617 |
666 |
1.45e-15 |
SMART |
TSP1
|
671 |
721 |
1.21e-12 |
SMART |
low complexity region
|
730 |
747 |
N/A |
INTRINSIC |
TSP1
|
757 |
806 |
3.12e-6 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display increased trabecular and cortical bone mass. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
C |
T |
7: 45,665,856 (GRCm39) |
V255I |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,701,702 (GRCm39) |
|
probably benign |
Het |
Bpifb2 |
A |
T |
2: 153,731,044 (GRCm39) |
Q205L |
probably damaging |
Het |
Ccdc30 |
C |
T |
4: 119,206,964 (GRCm39) |
R386Q |
possibly damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,273,114 (GRCm39) |
|
probably null |
Het |
Comtd1 |
A |
G |
14: 21,897,735 (GRCm39) |
|
probably null |
Het |
Dao |
T |
C |
5: 114,159,076 (GRCm39) |
C261R |
probably damaging |
Het |
Dner |
A |
G |
1: 84,563,059 (GRCm39) |
V187A |
possibly damaging |
Het |
Dsg3 |
T |
C |
18: 20,666,425 (GRCm39) |
|
probably benign |
Het |
Eif3j2 |
A |
G |
18: 43,610,444 (GRCm39) |
L123P |
possibly damaging |
Het |
Esf1 |
G |
A |
2: 139,996,706 (GRCm39) |
|
probably benign |
Het |
Exo5 |
G |
A |
4: 120,778,830 (GRCm39) |
T345I |
possibly damaging |
Het |
Fancl |
A |
T |
11: 26,337,299 (GRCm39) |
I29F |
probably damaging |
Het |
Gadl1 |
C |
T |
9: 115,795,335 (GRCm39) |
H313Y |
probably damaging |
Het |
Gm17190 |
G |
A |
13: 96,219,270 (GRCm39) |
|
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,245,675 (GRCm39) |
T1580N |
possibly damaging |
Het |
Gtf3c6 |
T |
A |
10: 40,127,155 (GRCm39) |
I66L |
probably benign |
Het |
Hhla1 |
A |
G |
15: 65,813,639 (GRCm39) |
I231T |
probably damaging |
Het |
Hk2 |
A |
G |
6: 82,716,630 (GRCm39) |
Y273H |
probably damaging |
Het |
Hk2 |
A |
G |
6: 82,726,213 (GRCm39) |
I83T |
probably benign |
Het |
Ifit1 |
T |
C |
19: 34,625,404 (GRCm39) |
V180A |
possibly damaging |
Het |
Igkv9-129 |
A |
T |
6: 67,817,172 (GRCm39) |
D92V |
probably damaging |
Het |
Lrrc1 |
A |
G |
9: 77,406,551 (GRCm39) |
F36S |
probably damaging |
Het |
Man1b1 |
A |
G |
2: 25,224,416 (GRCm39) |
E102G |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,179,031 (GRCm39) |
S475G |
probably benign |
Het |
Or52s1 |
T |
A |
7: 102,861,841 (GRCm39) |
V247D |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,390,419 (GRCm39) |
M343K |
probably benign |
Het |
Peg10 |
A |
T |
6: 4,756,647 (GRCm39) |
|
probably benign |
Het |
Plet1 |
T |
A |
9: 50,415,722 (GRCm39) |
N197K |
probably benign |
Het |
Ppp1r12a |
C |
T |
10: 108,097,115 (GRCm39) |
R243C |
probably damaging |
Het |
Serpinb10 |
A |
T |
1: 107,469,957 (GRCm39) |
K146N |
possibly damaging |
Het |
Sis |
A |
G |
3: 72,835,630 (GRCm39) |
F911L |
probably benign |
Het |
Tdrd9 |
T |
C |
12: 112,010,733 (GRCm39) |
V1100A |
probably benign |
Het |
Tmtc3 |
T |
C |
10: 100,283,468 (GRCm39) |
M696V |
probably benign |
Het |
Triobp |
A |
G |
15: 78,875,084 (GRCm39) |
E122G |
probably damaging |
Het |
Wt1 |
G |
A |
2: 105,000,368 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Spon1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01359:Spon1
|
APN |
7 |
113,633,525 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02385:Spon1
|
APN |
7 |
113,365,567 (GRCm39) |
start codon destroyed |
probably null |
0.56 |
IGL02496:Spon1
|
APN |
7 |
113,635,897 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02562:Spon1
|
APN |
7 |
113,635,996 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03153:Spon1
|
APN |
7 |
113,629,579 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03392:Spon1
|
APN |
7 |
113,633,522 (GRCm39) |
missense |
probably damaging |
0.99 |
Rust
|
UTSW |
7 |
113,616,024 (GRCm39) |
missense |
possibly damaging |
0.77 |
Wilt
|
UTSW |
7 |
113,365,621 (GRCm39) |
missense |
probably damaging |
0.98 |
R0512:Spon1
|
UTSW |
7 |
113,436,066 (GRCm39) |
missense |
possibly damaging |
0.59 |
R0646:Spon1
|
UTSW |
7 |
113,639,056 (GRCm39) |
missense |
probably benign |
0.04 |
R1194:Spon1
|
UTSW |
7 |
113,486,031 (GRCm39) |
missense |
probably benign |
|
R1832:Spon1
|
UTSW |
7 |
113,616,018 (GRCm39) |
missense |
probably benign |
0.26 |
R2391:Spon1
|
UTSW |
7 |
113,486,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R3747:Spon1
|
UTSW |
7 |
113,616,024 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3747:Spon1
|
UTSW |
7 |
113,365,621 (GRCm39) |
missense |
probably damaging |
0.98 |
R3749:Spon1
|
UTSW |
7 |
113,616,024 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3749:Spon1
|
UTSW |
7 |
113,365,621 (GRCm39) |
missense |
probably damaging |
0.98 |
R3750:Spon1
|
UTSW |
7 |
113,616,024 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3750:Spon1
|
UTSW |
7 |
113,365,621 (GRCm39) |
missense |
probably damaging |
0.98 |
R4666:Spon1
|
UTSW |
7 |
113,628,204 (GRCm39) |
missense |
probably benign |
0.20 |
R4730:Spon1
|
UTSW |
7 |
113,632,306 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4774:Spon1
|
UTSW |
7 |
113,639,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R5855:Spon1
|
UTSW |
7 |
113,628,307 (GRCm39) |
missense |
probably damaging |
0.99 |
R5870:Spon1
|
UTSW |
7 |
113,631,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R5914:Spon1
|
UTSW |
7 |
113,630,056 (GRCm39) |
missense |
probably damaging |
1.00 |
R6523:Spon1
|
UTSW |
7 |
113,486,018 (GRCm39) |
missense |
probably benign |
0.00 |
R7138:Spon1
|
UTSW |
7 |
113,635,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R7295:Spon1
|
UTSW |
7 |
113,629,475 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7844:Spon1
|
UTSW |
7 |
113,629,567 (GRCm39) |
missense |
probably benign |
0.01 |
R8064:Spon1
|
UTSW |
7 |
113,635,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R8075:Spon1
|
UTSW |
7 |
113,616,026 (GRCm39) |
critical splice donor site |
probably null |
|
R8927:Spon1
|
UTSW |
7 |
113,629,592 (GRCm39) |
critical splice donor site |
probably null |
|
R8928:Spon1
|
UTSW |
7 |
113,629,592 (GRCm39) |
critical splice donor site |
probably null |
|
R9278:Spon1
|
UTSW |
7 |
113,628,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R9505:Spon1
|
UTSW |
7 |
113,632,311 (GRCm39) |
missense |
probably damaging |
0.98 |
R9711:Spon1
|
UTSW |
7 |
113,387,685 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1088:Spon1
|
UTSW |
7 |
113,365,623 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1176:Spon1
|
UTSW |
7 |
113,527,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |