Incidental Mutation 'IGL02385:Spon1'
ID |
291494 |
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 # |
IGL02385
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
113365235-113642605 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to G
at 113365567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 1
(M1R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046687]
[ENSMUST00000084696]
|
AlphaFold |
Q8VCC9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046687
AA Change: M1R
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000041157 Gene: ENSMUSG00000038156 AA Change: M1R
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000084696
AA Change: M1R
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000081746 Gene: ENSMUSG00000038156 AA Change: M1R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
Pfam:Reeler
|
43 |
173 |
1.5e-35 |
PFAM |
Pfam:Spond_N
|
204 |
281 |
1.3e-31 |
PFAM |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,201,630 (GRCm39) |
D351E |
probably damaging |
Het |
Adad2 |
A |
G |
8: 120,341,773 (GRCm39) |
|
probably benign |
Het |
Adamts8 |
A |
G |
9: 30,873,026 (GRCm39) |
N744D |
probably benign |
Het |
Atad5 |
C |
T |
11: 79,985,453 (GRCm39) |
T180I |
probably benign |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Bcl9 |
A |
T |
3: 97,116,594 (GRCm39) |
I700K |
probably benign |
Het |
Bcr |
T |
C |
10: 74,981,235 (GRCm39) |
S685P |
probably damaging |
Het |
Cd36 |
A |
G |
5: 18,019,717 (GRCm39) |
V128A |
probably benign |
Het |
Cfap20dc |
A |
G |
14: 8,510,920 (GRCm38) |
V498A |
possibly damaging |
Het |
Chd2 |
T |
C |
7: 73,085,570 (GRCm39) |
Y1688C |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 15,953,275 (GRCm39) |
V3402A |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,660,771 (GRCm39) |
V370A |
probably damaging |
Het |
Dus4l |
A |
G |
12: 31,690,674 (GRCm39) |
|
probably benign |
Het |
Fcrlb |
A |
G |
1: 170,735,168 (GRCm39) |
S320P |
probably damaging |
Het |
Fer1l4 |
T |
C |
2: 155,887,348 (GRCm39) |
D616G |
probably benign |
Het |
Fxr2 |
C |
T |
11: 69,543,095 (GRCm39) |
R631C |
possibly damaging |
Het |
Gltpd2 |
T |
A |
11: 70,410,822 (GRCm39) |
F152I |
probably damaging |
Het |
Gpt2 |
T |
A |
8: 86,242,782 (GRCm39) |
|
probably null |
Het |
Hsd3b6 |
A |
T |
3: 98,713,888 (GRCm39) |
I137K |
possibly damaging |
Het |
Kcna6 |
A |
G |
6: 126,715,917 (GRCm39) |
V324A |
probably benign |
Het |
Kcnu1 |
C |
T |
8: 26,422,298 (GRCm39) |
L188F |
probably damaging |
Het |
Kdm1b |
A |
G |
13: 47,221,982 (GRCm39) |
I474V |
possibly damaging |
Het |
Kifap3 |
C |
T |
1: 163,693,013 (GRCm39) |
Q602* |
probably null |
Het |
Lrp4 |
T |
A |
2: 91,305,065 (GRCm39) |
C231S |
possibly damaging |
Het |
Lrrc63 |
T |
C |
14: 75,323,640 (GRCm39) |
D528G |
probably benign |
Het |
Nosip |
C |
A |
7: 44,726,156 (GRCm39) |
R240S |
possibly damaging |
Het |
Or11g26 |
T |
C |
14: 50,752,900 (GRCm39) |
S80P |
probably damaging |
Het |
Or4f57 |
G |
A |
2: 111,790,603 (GRCm39) |
P272S |
probably benign |
Het |
Or4k41 |
A |
G |
2: 111,279,695 (GRCm39) |
D70G |
probably damaging |
Het |
Orc5 |
A |
T |
5: 22,731,438 (GRCm39) |
D231E |
probably damaging |
Het |
Poli |
A |
T |
18: 70,659,645 (GRCm39) |
M62K |
possibly damaging |
Het |
Ppp1r13b |
A |
C |
12: 111,801,477 (GRCm39) |
S402R |
probably damaging |
Het |
Prl3b1 |
T |
C |
13: 27,433,366 (GRCm39) |
S174P |
possibly damaging |
Het |
Ptpra |
T |
C |
2: 130,382,393 (GRCm39) |
|
probably benign |
Het |
Sfpq |
T |
A |
4: 126,919,929 (GRCm39) |
|
probably null |
Het |
Sh3bp1 |
T |
A |
15: 78,790,088 (GRCm39) |
|
probably benign |
Het |
Slc7a2 |
T |
G |
8: 41,352,048 (GRCm39) |
V37G |
probably damaging |
Het |
Smc1a |
A |
T |
X: 150,820,655 (GRCm39) |
E794D |
possibly damaging |
Het |
Sox6 |
T |
C |
7: 115,149,274 (GRCm39) |
R366G |
possibly damaging |
Het |
Spaca7 |
A |
G |
8: 12,636,498 (GRCm39) |
N108S |
possibly damaging |
Het |
Sult6b2 |
T |
C |
6: 142,747,498 (GRCm39) |
R84G |
probably benign |
Het |
Syt2 |
A |
G |
1: 134,673,553 (GRCm39) |
N299S |
probably benign |
Het |
Syvn1 |
T |
C |
19: 6,098,570 (GRCm39) |
V104A |
probably damaging |
Het |
Tbpl1 |
A |
G |
10: 22,583,568 (GRCm39) |
L134P |
probably damaging |
Het |
Tex11 |
A |
T |
X: 99,920,135 (GRCm39) |
|
probably benign |
Het |
Tnfrsf21 |
A |
G |
17: 43,350,942 (GRCm39) |
S369G |
probably damaging |
Het |
Tram1l1 |
T |
C |
3: 124,115,707 (GRCm39) |
V289A |
probably benign |
Het |
Ttyh3 |
A |
T |
5: 140,619,060 (GRCm39) |
F277L |
probably benign |
Het |
Vmn2r17 |
T |
G |
5: 109,582,247 (GRCm39) |
N545K |
probably damaging |
Het |
Wdr20 |
A |
T |
12: 110,759,657 (GRCm39) |
H181L |
probably benign |
Het |
Zscan20 |
A |
G |
4: 128,498,392 (GRCm39) |
M2T |
possibly damaging |
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 |
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 |
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 |
2015-04-16 |