Incidental Mutation 'R4334:Spast'
| ID |
323718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spast
|
| Ensembl Gene |
ENSMUSG00000024068 |
| Gene Name |
spastin |
| Synonyms |
Spg4 |
| MMRRC Submission |
041664-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
74645982-74698110 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74659010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 126
(A126T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024869]
[ENSMUST00000224711]
[ENSMUST00000225549]
|
| AlphaFold |
Q9QYY8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024869
AA Change: A159T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024869
Gene: ENSMUSG00000024068
AA Change: A159T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
46 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
113 |
N/A |
INTRINSIC |
|
MIT
|
114 |
192 |
4.33e-18 |
SMART |
|
AAA
|
372 |
508 |
7.59e-17 |
SMART |
|
low complexity region
|
513 |
520 |
N/A |
INTRINSIC |
|
Pfam:Vps4_C
|
560 |
610 |
1.3e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224711
AA Change: A158T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225549
AA Change: A126T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation in this gene are sterile and display progressive axonopathy with focal axonal swellings and late onset gait abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
| Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
| B4galt4 |
T |
C |
16: 38,572,621 (GRCm39) |
I102T |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
| Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
| Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
| Foxa2 |
T |
C |
2: 147,886,623 (GRCm39) |
N64S |
possibly damaging |
Het |
| Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
| Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
| Htr3b |
G |
A |
9: 48,856,809 (GRCm39) |
A223V |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
| Igsf9 |
A |
T |
1: 172,321,779 (GRCm39) |
K149* |
probably null |
Het |
| Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,898,370 (GRCm39) |
V409A |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,699,105 (GRCm39) |
E527G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
| Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,269,042 (GRCm39) |
V415A |
probably benign |
Het |
| Wdr4 |
A |
T |
17: 31,718,126 (GRCm39) |
F316Y |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,080 (GRCm39) |
Y276C |
probably benign |
Het |
|
| Other mutations in Spast |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02226:Spast
|
APN |
17 |
74,679,334 (GRCm39) |
splice site |
probably benign |
|
|
R0671:Spast
|
UTSW |
17 |
74,646,446 (GRCm39) |
splice site |
probably benign |
|
|
R1170:Spast
|
UTSW |
17 |
74,688,963 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1698:Spast
|
UTSW |
17 |
74,663,155 (GRCm39) |
nonsense |
probably null |
|
|
R2076:Spast
|
UTSW |
17 |
74,659,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4765:Spast
|
UTSW |
17 |
74,676,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5002:Spast
|
UTSW |
17 |
74,676,221 (GRCm39) |
nonsense |
probably null |
|
|
R5911:Spast
|
UTSW |
17 |
74,694,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6073:Spast
|
UTSW |
17 |
74,680,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Spast
|
UTSW |
17 |
74,680,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6450:Spast
|
UTSW |
17 |
74,675,835 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6819:Spast
|
UTSW |
17 |
74,674,281 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6821:Spast
|
UTSW |
17 |
74,658,957 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7349:Spast
|
UTSW |
17 |
74,680,319 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7611:Spast
|
UTSW |
17 |
74,676,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7715:Spast
|
UTSW |
17 |
74,675,921 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8348:Spast
|
UTSW |
17 |
74,666,293 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8448:Spast
|
UTSW |
17 |
74,666,293 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8698:Spast
|
UTSW |
17 |
74,666,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8857:Spast
|
UTSW |
17 |
74,675,938 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8898:Spast
|
UTSW |
17 |
74,695,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Spast
|
UTSW |
17 |
74,646,069 (GRCm39) |
nonsense |
probably null |
|
|
R9472:Spast
|
UTSW |
17 |
74,681,143 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTCTCAGACTTACCACAGC -3'
(R):5'- TGTCCAAAGTCCCCAAGCTC -3'
Sequencing Primer
(F):5'- AGACTTACCACAGCCTCTTCCTG -3'
(R):5'- AAGCTCCATGTGCTGCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation