Incidental Mutation 'R2328:Spg21'
| ID |
245762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spg21
|
| Ensembl Gene |
ENSMUSG00000032388 |
| Gene Name |
SPG21, maspardin |
| Synonyms |
ACP33, BM-019, D9Wsu18e, GL010 |
| MMRRC Submission |
040319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R2328 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65368229-65395752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65394155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 284
(I284T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034955]
[ENSMUST00000213957]
|
| AlphaFold |
Q9CQC8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034955
AA Change: I284T
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034955
Gene: ENSMUSG00000032388
AA Change: I284T
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217144
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,182,502 (GRCm39) |
Y322F |
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,167,347 (GRCm39) |
T1490A |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,735,870 (GRCm39) |
V264A |
possibly damaging |
Het |
| Cggbp1 |
A |
G |
16: 64,676,366 (GRCm39) |
D144G |
probably benign |
Het |
| Cubn |
C |
A |
2: 13,408,891 (GRCm39) |
G1352* |
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,544,739 (GRCm39) |
M457K |
possibly damaging |
Het |
| Dag1 |
T |
C |
9: 108,086,451 (GRCm39) |
N230S |
probably damaging |
Het |
| Dbh |
T |
C |
2: 27,055,742 (GRCm39) |
V72A |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,850,421 (GRCm39) |
S4218P |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 31,013,718 (GRCm39) |
I3820F |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,419,562 (GRCm39) |
C186Y |
probably damaging |
Het |
| Foxd1 |
T |
C |
13: 98,491,660 (GRCm39) |
I178T |
probably damaging |
Het |
| Gpc5 |
C |
T |
14: 116,025,591 (GRCm39) |
R470W |
probably damaging |
Het |
| Hace1 |
G |
T |
10: 45,525,041 (GRCm39) |
R269L |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 139,058,010 (GRCm39) |
K73* |
probably null |
Het |
| Or10d5j |
A |
G |
9: 39,868,196 (GRCm39) |
F24L |
possibly damaging |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Pzp |
T |
C |
6: 128,487,353 (GRCm39) |
I504V |
possibly damaging |
Het |
| Scgb1b19 |
T |
A |
7: 32,987,911 (GRCm39) |
C93S |
probably damaging |
Het |
| Setx |
TGTGG |
T |
2: 29,044,072 (GRCm39) |
|
probably null |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slamf6 |
G |
A |
1: 171,761,818 (GRCm39) |
V80I |
probably benign |
Het |
| Snapc3 |
T |
A |
4: 83,353,514 (GRCm39) |
Y184* |
probably null |
Het |
| Tas2r123 |
A |
T |
6: 132,824,279 (GRCm39) |
T59S |
probably benign |
Het |
| Trip11 |
T |
G |
12: 101,845,086 (GRCm39) |
*139C |
probably null |
Het |
| Trp53inp1 |
T |
C |
4: 11,164,495 (GRCm39) |
V13A |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Ydjc |
A |
G |
16: 16,964,986 (GRCm39) |
E47G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,835,122 (GRCm39) |
D86G |
possibly 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 |
|
IGL03358:Spg21
|
APN |
9 |
65,387,698 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACACTGATGTTGCTCTCTGC -3'
(R):5'- GACGCCTGTCATGAGATTGAC -3'
Sequencing Primer
(F):5'- TCTGCCCTCCACATAATCTCAGAAAG -3'
(R):5'- CAATCAGTCCGACTTCCAGAAGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation