Incidental Mutation 'IGL03392:Spon1'
| ID |
421108 |
| 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 # |
IGL03392
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
113365235-113642605 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113633522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 655
(E655G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046687]
|
| AlphaFold |
Q8VCC9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046687
AA Change: E655G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041157
Gene: ENSMUSG00000038156
AA Change: E655G
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,403,931 (GRCm39) |
D692E |
probably damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,543,529 (GRCm39) |
R366S |
probably damaging |
Het |
| Afg3l2 |
C |
A |
18: 67,547,139 (GRCm39) |
|
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,703,653 (GRCm39) |
|
probably benign |
Het |
| Cnbd1 |
A |
G |
4: 18,862,111 (GRCm39) |
S360P |
probably damaging |
Het |
| Col13a1 |
A |
T |
10: 61,721,490 (GRCm39) |
L305I |
possibly damaging |
Het |
| Commd7 |
A |
T |
2: 153,464,684 (GRCm39) |
|
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,203,884 (GRCm39) |
Y23N |
probably damaging |
Het |
| Cry1 |
A |
G |
10: 84,992,993 (GRCm39) |
V75A |
possibly damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,501,767 (GRCm39) |
N107D |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,798,878 (GRCm39) |
V45E |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,385,907 (GRCm39) |
E310G |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,915,158 (GRCm39) |
I1597L |
probably benign |
Het |
| Fcamr |
A |
G |
1: 130,728,685 (GRCm39) |
|
probably benign |
Het |
| Fer |
A |
G |
17: 64,298,637 (GRCm39) |
I529V |
probably damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,351,826 (GRCm39) |
K1133R |
possibly damaging |
Het |
| Foxd3 |
A |
G |
4: 99,545,432 (GRCm39) |
K191E |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gbp8 |
A |
G |
5: 105,164,410 (GRCm39) |
|
probably null |
Het |
| Glb1 |
T |
G |
9: 114,259,389 (GRCm39) |
N106K |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,241,609 (GRCm39) |
I295T |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,180,099 (GRCm39) |
D844E |
probably damaging |
Het |
| Krt17 |
T |
C |
11: 100,150,561 (GRCm39) |
I159V |
possibly damaging |
Het |
| Lgi4 |
G |
A |
7: 30,762,605 (GRCm39) |
|
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,573,563 (GRCm39) |
|
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,222,499 (GRCm39) |
K178R |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,185,244 (GRCm39) |
W832R |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,962,362 (GRCm39) |
N30S |
probably damaging |
Het |
| Or2j3 |
A |
G |
17: 38,615,786 (GRCm39) |
S189P |
probably benign |
Het |
| Or4a72 |
A |
T |
2: 89,405,593 (GRCm39) |
V159D |
probably damaging |
Het |
| Or4f59 |
T |
A |
2: 111,873,321 (GRCm39) |
N19Y |
probably benign |
Het |
| Or51ai2 |
T |
C |
7: 103,587,232 (GRCm39) |
V215A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,460,104 (GRCm39) |
I1314F |
probably damaging |
Het |
| Phf14 |
G |
A |
6: 11,962,658 (GRCm39) |
S435N |
probably damaging |
Het |
| Prss45 |
T |
A |
9: 110,669,618 (GRCm39) |
Y231* |
probably null |
Het |
| Pus7l |
T |
C |
15: 94,434,449 (GRCm39) |
D339G |
probably damaging |
Het |
| Sbk2 |
A |
G |
7: 4,960,408 (GRCm39) |
F254S |
probably damaging |
Het |
| Serpina1b |
T |
G |
12: 103,698,329 (GRCm39) |
K173N |
possibly damaging |
Het |
| Slc13a5 |
G |
A |
11: 72,136,004 (GRCm39) |
T469I |
probably damaging |
Het |
| Sv2b |
T |
C |
7: 74,806,508 (GRCm39) |
|
probably null |
Het |
| Treh |
A |
G |
9: 44,597,228 (GRCm39) |
D514G |
probably damaging |
Het |
| Umodl1 |
T |
A |
17: 31,215,329 (GRCm39) |
L1051Q |
probably damaging |
Het |
| Usp5 |
A |
G |
6: 124,803,350 (GRCm39) |
F4S |
probably damaging |
Het |
| Vmn1r16 |
A |
G |
6: 57,299,879 (GRCm39) |
S248P |
probably 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 |
|
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 |
|
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 |
Incidental Mutation