Incidental Mutation 'IGL03358:Spg21'
ID |
420020 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spg21
|
Ensembl Gene |
ENSMUSG00000032388 |
Gene Name |
SPG21, maspardin |
Synonyms |
ACP33, BM-019, D9Wsu18e, GL010 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
IGL03358
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
65368229-65395752 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 65387698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 164
(V164I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150034
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034955]
[ENSMUST00000213957]
[ENSMUST00000215170]
|
AlphaFold |
Q9CQC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034955
AA Change: V164I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000034955 Gene: ENSMUSG00000032388 AA Change: V164I
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
Pfam:Abhydrolase_1
|
39 |
171 |
1.9e-10 |
PFAM |
Pfam:Abhydrolase_5
|
45 |
255 |
4.3e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213957
AA Change: V164I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215170
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
T |
C |
16: 64,586,909 (GRCm39) |
I272V |
possibly damaging |
Het |
4930590J08Rik |
A |
G |
6: 91,905,716 (GRCm39) |
N496D |
probably damaging |
Het |
Adcy2 |
C |
T |
13: 68,877,396 (GRCm39) |
G448E |
probably damaging |
Het |
Alad |
G |
A |
4: 62,428,844 (GRCm39) |
|
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Appbp2 |
A |
T |
11: 85,100,860 (GRCm39) |
M193K |
probably benign |
Het |
Cd300a |
G |
A |
11: 114,788,623 (GRCm39) |
M204I |
possibly damaging |
Het |
Cep350 |
T |
A |
1: 155,804,285 (GRCm39) |
M933L |
probably benign |
Het |
Cyp2s1 |
T |
A |
7: 25,507,573 (GRCm39) |
N292I |
probably damaging |
Het |
Gnl2 |
T |
C |
4: 124,946,387 (GRCm39) |
I536T |
probably damaging |
Het |
Ift140 |
C |
T |
17: 25,306,958 (GRCm39) |
R898C |
probably damaging |
Het |
Oosp2 |
A |
T |
19: 11,628,933 (GRCm39) |
L56* |
probably null |
Het |
Pars2 |
A |
T |
4: 106,510,239 (GRCm39) |
H7L |
probably benign |
Het |
Pbx4 |
T |
C |
8: 70,311,761 (GRCm39) |
S59P |
probably benign |
Het |
Psg20 |
G |
T |
7: 18,414,891 (GRCm39) |
H332N |
probably benign |
Het |
Rigi |
T |
C |
4: 40,206,069 (GRCm39) |
E841G |
possibly damaging |
Het |
Slc6a13 |
G |
A |
6: 121,311,495 (GRCm39) |
V384I |
probably benign |
Het |
Tnc |
A |
T |
4: 63,935,852 (GRCm39) |
C361* |
probably null |
Het |
Tsr1 |
T |
C |
11: 74,794,824 (GRCm39) |
V493A |
probably benign |
Het |
Ube2u |
A |
G |
4: 100,404,472 (GRCm39) |
|
probably benign |
Het |
Vav3 |
G |
A |
3: 109,554,989 (GRCm39) |
G79E |
probably damaging |
Het |
Vmn1r81 |
T |
G |
7: 11,994,232 (GRCm39) |
R125S |
possibly damaging |
Het |
Vmn2r45 |
A |
C |
7: 8,474,715 (GRCm39) |
L771R |
probably damaging |
Het |
Vps54 |
T |
A |
11: 21,218,799 (GRCm39) |
H119Q |
probably damaging |
Het |
|
Other mutations in Spg21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03130:Spg21
|
APN |
9 |
65,380,990 (GRCm39) |
missense |
probably benign |
0.01 |
R0277:Spg21
|
UTSW |
9 |
65,372,629 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1843:Spg21
|
UTSW |
9 |
65,372,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R1920:Spg21
|
UTSW |
9 |
65,391,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Spg21
|
UTSW |
9 |
65,391,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R2110:Spg21
|
UTSW |
9 |
65,391,711 (GRCm39) |
splice site |
probably null |
|
R2328:Spg21
|
UTSW |
9 |
65,394,155 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4600:Spg21
|
UTSW |
9 |
65,383,257 (GRCm39) |
missense |
probably benign |
0.05 |
R4614:Spg21
|
UTSW |
9 |
65,387,671 (GRCm39) |
splice site |
probably null |
|
R5022:Spg21
|
UTSW |
9 |
65,383,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R5309:Spg21
|
UTSW |
9 |
65,376,084 (GRCm39) |
missense |
probably benign |
|
R5312:Spg21
|
UTSW |
9 |
65,376,084 (GRCm39) |
missense |
probably benign |
|
R6179:Spg21
|
UTSW |
9 |
65,376,090 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Posted On |
2016-08-02 |