Incidental Mutation 'R8075:Spon1'
ID |
628966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spon1
|
Ensembl Gene |
ENSMUSG00000038156 |
Gene Name |
spondin 1, (f-spondin) extracellular matrix protein |
Synonyms |
FSP, D330035F22Rik |
MMRRC Submission |
067509-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.821)
|
Stock # |
R8075 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
113365235-113642605 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 113616026 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041157
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046687]
|
AlphaFold |
Q8VCC9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046687
|
SMART Domains |
Protein: ENSMUSP00000041157 Gene: ENSMUSG00000038156
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 |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.6%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
A |
T |
5: 121,790,148 (GRCm39) |
H69Q |
probably benign |
Het |
Aif1 |
T |
A |
17: 35,390,811 (GRCm39) |
N87Y |
unknown |
Het |
Caprin2 |
A |
T |
6: 148,770,590 (GRCm39) |
V468E |
probably benign |
Het |
Cep68 |
A |
T |
11: 20,189,335 (GRCm39) |
V559D |
probably benign |
Het |
Chrna4 |
A |
C |
2: 180,680,859 (GRCm39) |
I3S |
unknown |
Het |
Cog3 |
T |
C |
14: 75,968,142 (GRCm39) |
Y407C |
probably damaging |
Het |
Col15a1 |
A |
G |
4: 47,208,359 (GRCm39) |
H3R |
probably benign |
Het |
Ctxn1 |
A |
G |
8: 4,308,553 (GRCm39) |
V26A |
probably benign |
Het |
Cyp27b1 |
A |
C |
10: 126,887,382 (GRCm39) |
T405P |
probably damaging |
Het |
Cyp2c65 |
A |
G |
19: 39,060,682 (GRCm39) |
I181V |
probably benign |
Het |
Dusp6 |
T |
A |
10: 99,100,810 (GRCm39) |
S269T |
possibly damaging |
Het |
Efcab6 |
A |
T |
15: 83,851,824 (GRCm39) |
D351E |
probably damaging |
Het |
Fam181a |
A |
T |
12: 103,282,296 (GRCm39) |
H67L |
possibly damaging |
Het |
Fbxl18 |
A |
G |
5: 142,871,861 (GRCm39) |
L458P |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,913,048 (GRCm38) |
I1439T |
probably benign |
Het |
Foxj2 |
C |
T |
6: 122,815,055 (GRCm39) |
Q364* |
probably null |
Het |
Gm3138 |
A |
T |
14: 4,250,532 (GRCm38) |
N55Y |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,279,403 (GRCm39) |
T1802A |
possibly damaging |
Het |
Hoxc6 |
T |
C |
15: 102,919,325 (GRCm39) |
I187T |
probably damaging |
Het |
Ighg3 |
T |
A |
12: 113,321,097 (GRCm39) |
I387F |
|
Het |
Insr |
A |
T |
8: 3,205,862 (GRCm39) |
M1309K |
probably benign |
Het |
Itsn1 |
A |
T |
16: 91,686,097 (GRCm39) |
N1290I |
unknown |
Het |
Jag2 |
C |
A |
12: 112,878,894 (GRCm39) |
R509L |
probably benign |
Het |
Kctd11 |
T |
A |
11: 69,771,095 (GRCm39) |
|
probably benign |
Het |
Med13 |
C |
A |
11: 86,163,296 (GRCm39) |
V2126F |
probably damaging |
Het |
Mknk2 |
G |
A |
10: 80,507,982 (GRCm39) |
|
probably benign |
Het |
Oga |
A |
T |
19: 45,749,621 (GRCm39) |
N699K |
probably damaging |
Het |
Or52l1 |
T |
G |
7: 104,830,343 (GRCm39) |
H74P |
probably damaging |
Het |
Or5m13b |
A |
G |
2: 85,754,470 (GRCm39) |
N286S |
probably benign |
Het |
Pdzrn4 |
T |
C |
15: 92,575,605 (GRCm39) |
V337A |
probably damaging |
Het |
Pik3c3 |
A |
G |
18: 30,438,082 (GRCm39) |
N491D |
probably damaging |
Het |
Pla2g12b |
T |
A |
10: 59,257,274 (GRCm39) |
S96T |
unknown |
Het |
Rab37 |
G |
T |
11: 114,982,759 (GRCm39) |
|
probably null |
Het |
Rp9 |
G |
A |
9: 22,368,788 (GRCm39) |
T57M |
probably damaging |
Het |
Rrp12 |
A |
G |
19: 41,851,713 (GRCm39) |
V1274A |
probably damaging |
Het |
Serpinb11 |
G |
A |
1: 107,298,519 (GRCm39) |
V57M |
probably damaging |
Het |
Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
Slc39a14 |
A |
T |
14: 70,546,247 (GRCm39) |
I392N |
possibly damaging |
Het |
Sowahb |
G |
A |
5: 93,192,276 (GRCm39) |
Q148* |
probably null |
Het |
Susd4 |
C |
A |
1: 182,592,748 (GRCm39) |
T48K |
possibly damaging |
Het |
Taf4b |
T |
C |
18: 14,916,749 (GRCm39) |
V33A |
possibly damaging |
Het |
Tas2r139 |
T |
A |
6: 42,118,154 (GRCm39) |
N95K |
probably benign |
Het |
Tle3 |
T |
C |
9: 61,281,841 (GRCm39) |
M57T |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,985,852 (GRCm39) |
M815K |
probably damaging |
Het |
Vps8 |
A |
G |
16: 21,340,644 (GRCm39) |
D796G |
probably damaging |
Het |
Wnk1 |
C |
T |
6: 119,909,675 (GRCm39) |
G41S |
probably damaging |
Het |
Zfp867 |
A |
G |
11: 59,355,066 (GRCm39) |
S88P |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGACTAGGAACACTCAGTGC -3'
(R):5'- CTGTAGTCCCAAGAAGACAAGG -3'
Sequencing Primer
(F):5'- ACCTCCTAGTGTAGCTGGCATG -3'
(R):5'- TGTAGTCCCAAGAAGACAAGGTTTCC -3'
|
Posted On |
2020-06-30 |