Incidental Mutation 'R6226:Spg11'
ID |
504318 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spg11
|
Ensembl Gene |
ENSMUSG00000033396 |
Gene Name |
SPG11, spatacsin vesicle trafficking associated |
Synonyms |
6030465E24Rik, C530005A01Rik, spastic paraplegia 11 |
MMRRC Submission |
044397-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R6226 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121918743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 962
(V962A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036450]
|
AlphaFold |
Q3UHA3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036450
AA Change: V962A
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000037543 Gene: ENSMUSG00000033396 AA Change: V962A
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
low complexity region
|
254 |
276 |
N/A |
INTRINSIC |
low complexity region
|
945 |
958 |
N/A |
INTRINSIC |
low complexity region
|
1250 |
1264 |
N/A |
INTRINSIC |
low complexity region
|
1305 |
1313 |
N/A |
INTRINSIC |
low complexity region
|
1673 |
1684 |
N/A |
INTRINSIC |
low complexity region
|
1772 |
1784 |
N/A |
INTRINSIC |
Pfam:Spatacsin_C
|
2082 |
2374 |
1.1e-105 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
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 is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] PHENOTYPE: Mice homozygous for a knock-out allele develop a progressive spastic and ataxic gait disorder and show loss of cortical motoneurons and Purkinje cells, a reduced number of lysosomes available for fusion with autophagosomes in degenerating neurons, and accumulation of autolysosome-derived material. [provided by MGI curators]
|
Allele List at MGI |
All alleles(10) : Gene trapped(10)
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
T |
C |
13: 12,293,853 (GRCm39) |
T62A |
probably benign |
Het |
Adam33 |
G |
A |
2: 130,897,530 (GRCm39) |
T265I |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,904,560 (GRCm39) |
T654A |
probably benign |
Het |
Agrn |
A |
G |
4: 156,258,066 (GRCm39) |
S992P |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,492,292 (GRCm39) |
F939L |
probably damaging |
Het |
Anks1 |
G |
A |
17: 28,276,304 (GRCm39) |
V1016I |
probably benign |
Het |
Ankzf1 |
A |
G |
1: 75,173,238 (GRCm39) |
T401A |
probably benign |
Het |
Atad1 |
G |
T |
19: 32,678,987 (GRCm39) |
D105E |
probably benign |
Het |
Carmil2 |
A |
G |
8: 106,415,664 (GRCm39) |
T313A |
possibly damaging |
Het |
Cdk15 |
T |
C |
1: 59,304,792 (GRCm39) |
V131A |
probably damaging |
Het |
Cldnd1 |
A |
T |
16: 58,551,663 (GRCm39) |
|
probably null |
Het |
Col16a1 |
A |
T |
4: 129,948,882 (GRCm39) |
|
probably benign |
Het |
Cts3 |
T |
A |
13: 61,716,535 (GRCm39) |
I34L |
probably benign |
Het |
Dnah7b |
A |
C |
1: 46,165,828 (GRCm39) |
K498Q |
probably benign |
Het |
Dnase2b |
A |
G |
3: 146,290,318 (GRCm39) |
Y218H |
probably benign |
Het |
Dsg2 |
T |
A |
18: 20,712,506 (GRCm39) |
V170D |
probably damaging |
Het |
Dst |
T |
C |
1: 34,309,955 (GRCm39) |
V1543A |
probably damaging |
Het |
Ell3 |
A |
T |
2: 121,272,258 (GRCm39) |
I72K |
probably damaging |
Het |
Fank1 |
A |
G |
7: 133,463,927 (GRCm39) |
Y41C |
probably benign |
Het |
Foxd3 |
T |
C |
4: 99,545,261 (GRCm39) |
Y134H |
probably damaging |
Het |
Frmd6 |
A |
G |
12: 70,910,685 (GRCm39) |
|
probably benign |
Het |
Gale |
A |
G |
4: 135,692,916 (GRCm39) |
E53G |
possibly damaging |
Het |
Glis3 |
A |
G |
19: 28,294,702 (GRCm39) |
S699P |
probably damaging |
Het |
Gm12830 |
T |
A |
4: 114,702,246 (GRCm39) |
M136K |
unknown |
Het |
Grik3 |
T |
C |
4: 125,553,582 (GRCm39) |
V438A |
probably benign |
Het |
Gsap |
A |
G |
5: 21,422,429 (GRCm39) |
N133D |
probably damaging |
Het |
Gsg1 |
T |
A |
6: 135,217,110 (GRCm39) |
D239V |
probably damaging |
Het |
H2-T10 |
A |
T |
17: 36,431,975 (GRCm39) |
W23R |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,031,583 (GRCm39) |
T1100A |
probably benign |
Het |
Kcnh7 |
A |
T |
2: 62,607,903 (GRCm39) |
F559L |
probably damaging |
Het |
Kdm5b |
G |
T |
1: 134,536,616 (GRCm39) |
R612L |
probably damaging |
Het |
Lrrc74a |
T |
A |
12: 86,795,231 (GRCm39) |
N253K |
possibly damaging |
Het |
Mcm3ap |
A |
G |
10: 76,351,540 (GRCm39) |
H1961R |
possibly damaging |
Het |
Ncam1 |
C |
T |
9: 49,476,304 (GRCm39) |
E262K |
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,339,125 (GRCm39) |
S968P |
possibly damaging |
Het |
Nkapd1 |
T |
C |
9: 50,519,070 (GRCm39) |
T181A |
possibly damaging |
Het |
Nr2f2 |
T |
G |
7: 70,009,744 (GRCm39) |
S112R |
probably benign |
Het |
Nup93 |
T |
C |
8: 95,013,165 (GRCm39) |
W137R |
probably damaging |
Het |
Or10ag53 |
A |
G |
2: 87,082,736 (GRCm39) |
S152G |
probably benign |
Het |
Or2t26 |
A |
G |
11: 49,039,660 (GRCm39) |
D192G |
possibly damaging |
Het |
Or4a78 |
A |
T |
2: 89,497,333 (GRCm39) |
L299H |
probably damaging |
Het |
Or52n1 |
A |
T |
7: 104,383,243 (GRCm39) |
F109L |
probably damaging |
Het |
Or8b12 |
T |
A |
9: 37,657,433 (GRCm39) |
M1K |
probably null |
Het |
Or8b55 |
T |
C |
9: 38,727,666 (GRCm39) |
I289T |
probably damaging |
Het |
Otogl |
A |
T |
10: 107,607,067 (GRCm39) |
Y2105* |
probably null |
Het |
Pibf1 |
A |
G |
14: 99,338,555 (GRCm39) |
S24G |
probably damaging |
Het |
Pitx2 |
C |
T |
3: 129,009,491 (GRCm39) |
R130W |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,851,287 (GRCm39) |
N715S |
probably benign |
Het |
Pou6f2 |
A |
T |
13: 18,303,739 (GRCm39) |
I123N |
possibly damaging |
Het |
Prss29 |
T |
A |
17: 25,539,513 (GRCm39) |
H35Q |
possibly damaging |
Het |
Ptpn21 |
A |
G |
12: 98,646,375 (GRCm39) |
F1028L |
probably benign |
Het |
Ptpn21 |
A |
T |
12: 98,681,431 (GRCm39) |
Y68N |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,440,099 (GRCm39) |
T856A |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpl22l1 |
A |
G |
3: 28,860,676 (GRCm39) |
T13A |
possibly damaging |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Sec14l5 |
G |
A |
16: 4,994,429 (GRCm39) |
V408I |
probably damaging |
Het |
Serpina5 |
T |
C |
12: 104,068,037 (GRCm39) |
S33P |
possibly damaging |
Het |
Sgip1 |
A |
G |
4: 102,823,392 (GRCm39) |
N524S |
probably damaging |
Het |
Shkbp1 |
C |
A |
7: 27,051,405 (GRCm39) |
R218M |
probably null |
Het |
Sorcs1 |
T |
A |
19: 50,169,852 (GRCm39) |
I970F |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,086,054 (GRCm39) |
M1205T |
probably damaging |
Het |
Sufu |
G |
A |
19: 46,462,093 (GRCm39) |
V369M |
probably damaging |
Het |
Tmem98 |
T |
C |
11: 80,712,220 (GRCm39) |
F219S |
probably benign |
Het |
Trim27 |
T |
C |
13: 21,365,086 (GRCm39) |
|
probably benign |
Het |
Trim43b |
T |
C |
9: 88,973,328 (GRCm39) |
E135G |
possibly damaging |
Het |
Ube2m |
A |
G |
7: 12,769,815 (GRCm39) |
V110A |
probably damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,239,989 (GRCm39) |
V132A |
probably damaging |
Het |
Usp36 |
A |
T |
11: 118,168,100 (GRCm39) |
S86T |
probably damaging |
Het |
Zfp941 |
A |
T |
7: 140,392,398 (GRCm39) |
D320E |
probably benign |
Het |
|
Other mutations in Spg11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00426:Spg11
|
APN |
2 |
121,896,041 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00495:Spg11
|
APN |
2 |
121,924,937 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00757:Spg11
|
APN |
2 |
121,901,440 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01304:Spg11
|
APN |
2 |
121,902,771 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01355:Spg11
|
APN |
2 |
121,943,637 (GRCm39) |
missense |
probably benign |
|
IGL01626:Spg11
|
APN |
2 |
121,891,452 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01739:Spg11
|
APN |
2 |
121,945,152 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01835:Spg11
|
APN |
2 |
121,918,705 (GRCm39) |
missense |
probably benign |
0.36 |
IGL02129:Spg11
|
APN |
2 |
121,926,167 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02178:Spg11
|
APN |
2 |
121,927,783 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02199:Spg11
|
APN |
2 |
121,890,034 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02212:Spg11
|
APN |
2 |
121,938,638 (GRCm39) |
missense |
probably benign |
0.31 |
IGL02605:Spg11
|
APN |
2 |
121,922,741 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02635:Spg11
|
APN |
2 |
121,943,549 (GRCm39) |
missense |
possibly damaging |
0.52 |
IGL02743:Spg11
|
APN |
2 |
121,889,988 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02822:Spg11
|
APN |
2 |
121,905,015 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02992:Spg11
|
APN |
2 |
121,888,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03010:Spg11
|
APN |
2 |
121,918,801 (GRCm39) |
missense |
probably damaging |
0.96 |
3-1:Spg11
|
UTSW |
2 |
121,917,371 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4354001:Spg11
|
UTSW |
2 |
121,918,666 (GRCm39) |
missense |
probably damaging |
0.98 |
R0131:Spg11
|
UTSW |
2 |
121,901,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R0206:Spg11
|
UTSW |
2 |
121,886,177 (GRCm39) |
critical splice donor site |
probably null |
|
R0208:Spg11
|
UTSW |
2 |
121,886,177 (GRCm39) |
critical splice donor site |
probably null |
|
R0302:Spg11
|
UTSW |
2 |
121,922,668 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0347:Spg11
|
UTSW |
2 |
121,927,850 (GRCm39) |
missense |
probably damaging |
0.99 |
R0357:Spg11
|
UTSW |
2 |
121,896,713 (GRCm39) |
splice site |
probably benign |
|
R0372:Spg11
|
UTSW |
2 |
121,889,928 (GRCm39) |
frame shift |
probably null |
|
R0715:Spg11
|
UTSW |
2 |
121,915,464 (GRCm39) |
missense |
probably benign |
0.03 |
R0927:Spg11
|
UTSW |
2 |
121,924,968 (GRCm39) |
missense |
probably damaging |
0.99 |
R1163:Spg11
|
UTSW |
2 |
121,901,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R1534:Spg11
|
UTSW |
2 |
121,922,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R1555:Spg11
|
UTSW |
2 |
121,927,858 (GRCm39) |
missense |
probably damaging |
0.99 |
R1569:Spg11
|
UTSW |
2 |
121,932,187 (GRCm39) |
missense |
probably damaging |
0.99 |
R1840:Spg11
|
UTSW |
2 |
121,932,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Spg11
|
UTSW |
2 |
121,890,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R2265:Spg11
|
UTSW |
2 |
121,938,788 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2303:Spg11
|
UTSW |
2 |
121,899,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R2510:Spg11
|
UTSW |
2 |
121,905,791 (GRCm39) |
missense |
probably benign |
0.03 |
R2760:Spg11
|
UTSW |
2 |
121,927,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R2918:Spg11
|
UTSW |
2 |
121,905,782 (GRCm39) |
missense |
probably damaging |
0.99 |
R3195:Spg11
|
UTSW |
2 |
121,913,879 (GRCm39) |
critical splice donor site |
probably null |
|
R3423:Spg11
|
UTSW |
2 |
121,901,534 (GRCm39) |
missense |
probably benign |
0.00 |
R4353:Spg11
|
UTSW |
2 |
121,943,675 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4407:Spg11
|
UTSW |
2 |
121,905,813 (GRCm39) |
missense |
probably benign |
0.00 |
R4644:Spg11
|
UTSW |
2 |
121,891,510 (GRCm39) |
missense |
probably benign |
0.03 |
R4663:Spg11
|
UTSW |
2 |
121,928,580 (GRCm39) |
critical splice donor site |
probably null |
|
R4684:Spg11
|
UTSW |
2 |
121,895,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Spg11
|
UTSW |
2 |
121,895,963 (GRCm39) |
nonsense |
probably null |
|
R4810:Spg11
|
UTSW |
2 |
121,890,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R4829:Spg11
|
UTSW |
2 |
121,938,936 (GRCm39) |
missense |
probably benign |
0.44 |
R5089:Spg11
|
UTSW |
2 |
121,945,198 (GRCm39) |
nonsense |
probably null |
|
R5362:Spg11
|
UTSW |
2 |
121,891,481 (GRCm39) |
missense |
probably damaging |
0.99 |
R5684:Spg11
|
UTSW |
2 |
121,923,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R5899:Spg11
|
UTSW |
2 |
121,928,680 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5923:Spg11
|
UTSW |
2 |
121,923,959 (GRCm39) |
missense |
probably damaging |
0.98 |
R6052:Spg11
|
UTSW |
2 |
121,927,837 (GRCm39) |
missense |
probably damaging |
0.99 |
R6111:Spg11
|
UTSW |
2 |
121,923,963 (GRCm39) |
missense |
probably damaging |
0.98 |
R6174:Spg11
|
UTSW |
2 |
121,917,286 (GRCm39) |
splice site |
probably null |
|
R6336:Spg11
|
UTSW |
2 |
121,943,440 (GRCm39) |
splice site |
probably null |
|
R6480:Spg11
|
UTSW |
2 |
121,922,786 (GRCm39) |
missense |
probably benign |
0.03 |
R6494:Spg11
|
UTSW |
2 |
121,943,706 (GRCm39) |
missense |
probably damaging |
0.98 |
R6582:Spg11
|
UTSW |
2 |
121,922,773 (GRCm39) |
missense |
probably damaging |
0.99 |
R6714:Spg11
|
UTSW |
2 |
121,926,212 (GRCm39) |
missense |
probably damaging |
0.99 |
R6791:Spg11
|
UTSW |
2 |
121,923,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R6836:Spg11
|
UTSW |
2 |
121,890,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R6928:Spg11
|
UTSW |
2 |
121,900,385 (GRCm39) |
missense |
probably benign |
0.37 |
R7179:Spg11
|
UTSW |
2 |
121,932,270 (GRCm39) |
splice site |
probably null |
|
R7229:Spg11
|
UTSW |
2 |
121,938,585 (GRCm39) |
missense |
probably damaging |
0.98 |
R7337:Spg11
|
UTSW |
2 |
121,915,474 (GRCm39) |
missense |
probably benign |
0.09 |
R7338:Spg11
|
UTSW |
2 |
121,885,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7351:Spg11
|
UTSW |
2 |
121,900,412 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7378:Spg11
|
UTSW |
2 |
121,888,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Spg11
|
UTSW |
2 |
121,924,026 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7505:Spg11
|
UTSW |
2 |
121,905,832 (GRCm39) |
nonsense |
probably null |
|
R7665:Spg11
|
UTSW |
2 |
121,896,748 (GRCm39) |
missense |
probably damaging |
0.99 |
R7685:Spg11
|
UTSW |
2 |
121,899,361 (GRCm39) |
missense |
probably damaging |
0.99 |
R7779:Spg11
|
UTSW |
2 |
121,901,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R7947:Spg11
|
UTSW |
2 |
121,922,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R7958:Spg11
|
UTSW |
2 |
121,923,426 (GRCm39) |
splice site |
probably null |
|
R8024:Spg11
|
UTSW |
2 |
121,927,802 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8033:Spg11
|
UTSW |
2 |
121,917,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R8069:Spg11
|
UTSW |
2 |
121,943,637 (GRCm39) |
missense |
probably benign |
|
R8121:Spg11
|
UTSW |
2 |
121,900,348 (GRCm39) |
critical splice donor site |
probably null |
|
R8252:Spg11
|
UTSW |
2 |
121,918,820 (GRCm39) |
splice site |
probably benign |
|
R8358:Spg11
|
UTSW |
2 |
121,910,739 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8362:Spg11
|
UTSW |
2 |
121,948,842 (GRCm39) |
missense |
unknown |
|
R8385:Spg11
|
UTSW |
2 |
121,927,802 (GRCm39) |
missense |
probably benign |
0.22 |
R8406:Spg11
|
UTSW |
2 |
121,923,923 (GRCm39) |
missense |
probably damaging |
0.99 |
R8480:Spg11
|
UTSW |
2 |
121,943,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R8810:Spg11
|
UTSW |
2 |
121,901,425 (GRCm39) |
missense |
probably damaging |
0.98 |
R8883:Spg11
|
UTSW |
2 |
121,943,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R8968:Spg11
|
UTSW |
2 |
121,922,687 (GRCm39) |
missense |
probably damaging |
0.99 |
R9008:Spg11
|
UTSW |
2 |
121,900,413 (GRCm39) |
missense |
probably benign |
0.05 |
R9059:Spg11
|
UTSW |
2 |
121,918,788 (GRCm39) |
missense |
probably damaging |
0.99 |
R9296:Spg11
|
UTSW |
2 |
121,945,175 (GRCm39) |
missense |
probably benign |
0.34 |
R9333:Spg11
|
UTSW |
2 |
121,932,244 (GRCm39) |
missense |
probably damaging |
0.99 |
R9657:Spg11
|
UTSW |
2 |
121,910,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R9774:Spg11
|
UTSW |
2 |
121,938,965 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Spg11
|
UTSW |
2 |
121,903,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TAAGACCCTGTTTTAAGCCCC -3'
(R):5'- GACAGTTATGACGTGTTCAGAAG -3'
Sequencing Primer
(F):5'- TGTTTTAAGCCCCCACTGG -3'
(R):5'- GATATTCTAAGTGCAGGTTTCTGTC -3'
|
Posted On |
2018-02-28 |