Incidental Mutation 'IGL02533:Spon2'
| ID |
297404 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spon2
|
| Ensembl Gene |
ENSMUSG00000037379 |
| Gene Name |
spondin 2, extracellular matrix protein |
| Synonyms |
2310045I24Rik, Mindin, M-spondin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
IGL02533
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
33370862-33375596 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 33371942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 288
(C288F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046186]
[ENSMUST00000201475]
|
| AlphaFold |
Q8BMS2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046186
AA Change: C288F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042701
Gene: ENSMUSG00000037379
AA Change: C288F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Spond_N
|
40 |
234 |
2.3e-79 |
PFAM |
|
TSP1
|
279 |
330 |
4.48e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201175
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201475
|
| SMART Domains |
Protein: ENSMUSP00000144416
Gene: ENSMUSG00000037379
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Spond_N
|
40 |
179 |
2.4e-50 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene have an essentially normal phenotype. There is some alteration in succeptibility to bacterial infection however. [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 |
|---|
| Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
| Bach2 |
T |
C |
4: 32,562,451 (GRCm39) |
V306A |
probably benign |
Het |
| Cnga4 |
T |
C |
7: 105,057,168 (GRCm39) |
Y424H |
probably damaging |
Het |
| Cops9 |
T |
C |
1: 92,567,438 (GRCm39) |
E79G |
possibly damaging |
Het |
| Crebbp |
T |
C |
16: 3,925,296 (GRCm39) |
N769D |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dennd4b |
A |
T |
3: 90,179,617 (GRCm39) |
H636L |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,458,859 (GRCm39) |
T632A |
probably benign |
Het |
| Gabbr1 |
C |
T |
17: 37,383,039 (GRCm39) |
R857C |
probably damaging |
Het |
| Gbp10 |
A |
T |
5: 105,367,901 (GRCm39) |
V424D |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,454,429 (GRCm39) |
E146G |
possibly damaging |
Het |
| Has2 |
A |
T |
15: 56,545,091 (GRCm39) |
H170Q |
probably benign |
Het |
| Il22ra1 |
G |
A |
4: 135,472,034 (GRCm39) |
G190D |
possibly damaging |
Het |
| Lhcgr |
T |
C |
17: 89,049,838 (GRCm39) |
T563A |
probably benign |
Het |
| Mgat4b |
T |
A |
11: 50,124,379 (GRCm39) |
F413Y |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,581,099 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
C |
T |
15: 91,782,241 (GRCm39) |
|
noncoding transcript |
Het |
| Ncoa7 |
A |
T |
10: 30,566,895 (GRCm39) |
S545R |
possibly damaging |
Het |
| Ncoa7 |
A |
C |
10: 30,598,781 (GRCm39) |
D47E |
probably damaging |
Het |
| Nme1 |
A |
G |
11: 93,850,257 (GRCm39) |
Y142H |
possibly damaging |
Het |
| Or10j3b |
A |
T |
1: 173,043,628 (GRCm39) |
M137L |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,047 (GRCm39) |
T309S |
probably benign |
Het |
| Or8i2 |
T |
A |
2: 86,852,697 (GRCm39) |
S64C |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,358,724 (GRCm39) |
I587T |
possibly damaging |
Het |
| Pias3 |
A |
G |
3: 96,606,932 (GRCm39) |
D65G |
possibly damaging |
Het |
| Pramel20 |
A |
G |
4: 143,297,572 (GRCm39) |
|
probably benign |
Het |
| Prkacb |
T |
C |
3: 146,438,451 (GRCm39) |
I304M |
possibly damaging |
Het |
| Ripor2 |
G |
T |
13: 24,885,378 (GRCm39) |
E538* |
probably null |
Het |
| Sart1 |
G |
A |
19: 5,433,749 (GRCm39) |
R363* |
probably null |
Het |
| Serpinb3a |
T |
G |
1: 106,974,892 (GRCm39) |
I214L |
probably benign |
Het |
| Tmprss11a |
G |
A |
5: 86,562,386 (GRCm39) |
R320C |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,643,282 (GRCm39) |
I22F |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,954,580 (GRCm39) |
F818L |
probably damaging |
Het |
| Vmn1r120 |
T |
G |
7: 20,787,063 (GRCm39) |
Q216P |
probably damaging |
Het |
| Vmn2r4 |
A |
C |
3: 64,305,840 (GRCm39) |
Y527* |
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,007,642 (GRCm39) |
Y125F |
probably damaging |
Het |
|
| Other mutations in Spon2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01557:Spon2
|
APN |
5 |
33,374,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01781:Spon2
|
APN |
5 |
33,372,904 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1557:Spon2
|
UTSW |
5 |
33,374,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Spon2
|
UTSW |
5 |
33,373,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Spon2
|
UTSW |
5 |
33,374,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4793:Spon2
|
UTSW |
5 |
33,371,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4961:Spon2
|
UTSW |
5 |
33,371,896 (GRCm39) |
nonsense |
probably null |
|
|
R6930:Spon2
|
UTSW |
5 |
33,373,771 (GRCm39) |
missense |
probably benign |
|
|
R7067:Spon2
|
UTSW |
5 |
33,371,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7643:Spon2
|
UTSW |
5 |
33,374,800 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7727:Spon2
|
UTSW |
5 |
33,373,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8398:Spon2
|
UTSW |
5 |
33,374,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Spon2
|
UTSW |
5 |
33,371,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9076:Spon2
|
UTSW |
5 |
33,374,054 (GRCm39) |
nonsense |
probably null |
|
|
R9124:Spon2
|
UTSW |
5 |
33,372,935 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9295:Spon2
|
UTSW |
5 |
33,373,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Spon2
|
UTSW |
5 |
33,374,702 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation