Incidental Mutation 'IGL03153:Spon1'
ID |
411154 |
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: 0.755)
|
Stock # |
IGL03153
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
113365235-113642605 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 113629579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 408
(I408F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046687]
|
AlphaFold |
Q8VCC9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046687
AA Change: I408F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041157 Gene: ENSMUSG00000038156 AA Change: I408F
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
A |
G |
4: 62,465,563 (GRCm39) |
E419G |
possibly damaging |
Het |
Abcg3 |
A |
G |
5: 105,122,631 (GRCm39) |
|
probably benign |
Het |
Adam17 |
T |
C |
12: 21,395,698 (GRCm39) |
D256G |
probably damaging |
Het |
Adgrb3 |
G |
A |
1: 25,570,978 (GRCm39) |
R500* |
probably null |
Het |
Aldh3a2 |
A |
G |
11: 61,149,665 (GRCm39) |
Y234H |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,143 (GRCm39) |
T987A |
probably benign |
Het |
Amtn |
A |
G |
5: 88,532,828 (GRCm39) |
K148E |
possibly damaging |
Het |
Asap1 |
G |
A |
15: 64,032,123 (GRCm39) |
T237M |
probably damaging |
Het |
Ccdc124 |
A |
T |
8: 71,321,573 (GRCm39) |
|
probably null |
Het |
Cdon |
T |
C |
9: 35,389,255 (GRCm39) |
Y787H |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,269,516 (GRCm39) |
D188G |
probably damaging |
Het |
Coro7 |
A |
G |
16: 4,453,246 (GRCm39) |
|
probably null |
Het |
Dram2 |
T |
A |
3: 106,462,490 (GRCm39) |
|
probably benign |
Het |
Drd5 |
T |
C |
5: 38,477,124 (GRCm39) |
V39A |
probably benign |
Het |
Ern1 |
A |
G |
11: 106,300,924 (GRCm39) |
L490P |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,483,160 (GRCm39) |
T3083A |
possibly damaging |
Het |
Irgm1 |
A |
G |
11: 48,757,094 (GRCm39) |
I239T |
probably damaging |
Het |
Klhl10 |
A |
T |
11: 100,347,758 (GRCm39) |
T605S |
probably benign |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Lgi4 |
G |
T |
7: 30,759,983 (GRCm39) |
V60F |
probably damaging |
Het |
Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
Lmf1 |
A |
G |
17: 25,804,624 (GRCm39) |
S97G |
possibly damaging |
Het |
Oasl2 |
A |
G |
5: 115,039,393 (GRCm39) |
T194A |
probably benign |
Het |
Or5ac17 |
A |
G |
16: 59,036,566 (GRCm39) |
S137P |
probably benign |
Het |
Pnpo |
A |
T |
11: 96,834,661 (GRCm39) |
F12I |
probably damaging |
Het |
Prdm4 |
T |
C |
10: 85,743,860 (GRCm39) |
T132A |
probably benign |
Het |
Ptbp2 |
T |
C |
3: 119,545,593 (GRCm39) |
T118A |
probably benign |
Het |
Ptf1a |
T |
A |
2: 19,451,456 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
A |
10: 39,682,874 (GRCm39) |
F331I |
probably damaging |
Het |
Rfx6 |
C |
A |
10: 51,599,217 (GRCm39) |
S524* |
probably null |
Het |
Scube3 |
A |
G |
17: 28,386,032 (GRCm39) |
S758G |
possibly damaging |
Het |
Slc44a2 |
T |
C |
9: 21,254,496 (GRCm39) |
I257T |
probably benign |
Het |
Srpk1 |
C |
A |
17: 28,811,240 (GRCm39) |
D541Y |
possibly damaging |
Het |
Tenm4 |
A |
T |
7: 96,522,969 (GRCm39) |
I1467F |
probably damaging |
Het |
Uggt1 |
A |
C |
1: 36,241,899 (GRCm39) |
V345G |
possibly damaging |
Het |
Vmn1r23 |
A |
T |
6: 57,902,917 (GRCm39) |
I287K |
probably damaging |
Het |
Whamm |
A |
G |
7: 81,239,280 (GRCm39) |
|
probably benign |
Het |
Zeb1 |
A |
G |
18: 5,770,511 (GRCm39) |
D888G |
probably damaging |
Het |
Zfp263 |
A |
G |
16: 3,564,744 (GRCm39) |
N253S |
possibly damaging |
Het |
Zfp446 |
C |
A |
7: 12,711,834 (GRCm39) |
A19E |
probably benign |
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 |
IGL03063:Spon1
|
APN |
7 |
113,632,260 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |