Incidental Mutation 'R7229:Spg11'
ID |
562333 |
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 |
045301-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R7229 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121938585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 456
(F456L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036450]
|
AlphaFold |
Q3UHA3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036450
AA Change: F456L
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000037543 Gene: ENSMUSG00000033396 AA Change: F456L
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 |
|
Meta Mutation Damage Score |
0.0842 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (73/73) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,832,809 (GRCm39) |
E122G |
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,682,647 (GRCm39) |
Y880H |
probably damaging |
Het |
Atp13a4 |
A |
G |
16: 29,239,723 (GRCm39) |
S830P |
probably benign |
Het |
Atp1a3 |
T |
A |
7: 24,687,410 (GRCm39) |
Q696L |
probably benign |
Het |
Brox |
G |
A |
1: 183,073,523 (GRCm39) |
R85* |
probably null |
Het |
C130073F10Rik |
T |
C |
4: 101,747,439 (GRCm39) |
I197V |
probably benign |
Het |
Cand2 |
G |
A |
6: 115,768,153 (GRCm39) |
V433M |
probably damaging |
Het |
Cep83 |
A |
G |
10: 94,555,527 (GRCm39) |
K74E |
probably damaging |
Het |
Chrng |
A |
T |
1: 87,137,166 (GRCm39) |
T275S |
probably benign |
Het |
Clca3a2 |
T |
C |
3: 144,789,869 (GRCm39) |
D489G |
probably damaging |
Het |
Cmtr1 |
A |
G |
17: 29,914,398 (GRCm39) |
|
probably null |
Het |
Cnga1 |
T |
C |
5: 72,775,592 (GRCm39) |
N43S |
probably benign |
Het |
Cog8 |
A |
T |
8: 107,782,984 (GRCm39) |
C102S |
probably damaging |
Het |
Cpsf3 |
G |
A |
12: 21,346,738 (GRCm39) |
|
probably null |
Het |
Cyp26b1 |
G |
A |
6: 84,554,132 (GRCm39) |
Q162* |
probably null |
Het |
Elmod3 |
A |
G |
6: 72,571,736 (GRCm39) |
F14S |
probably benign |
Het |
Eps8 |
A |
G |
6: 137,516,354 (GRCm39) |
S9P |
probably benign |
Het |
Fam184b |
T |
C |
5: 45,741,517 (GRCm39) |
Q238R |
probably damaging |
Het |
Fbxw7 |
T |
C |
3: 84,884,676 (GRCm39) |
L654S |
unknown |
Het |
Foxp1 |
A |
T |
6: 98,912,373 (GRCm39) |
L580Q |
unknown |
Het |
Galr1 |
A |
G |
18: 82,423,789 (GRCm39) |
S163P |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,258,256 (GRCm39) |
F201L |
possibly damaging |
Het |
Gin1 |
T |
C |
1: 97,712,876 (GRCm39) |
F310L |
probably benign |
Het |
Grik2 |
A |
T |
10: 48,977,512 (GRCm39) |
|
probably null |
Het |
Haus1 |
A |
T |
18: 77,851,834 (GRCm39) |
F94I |
probably benign |
Het |
Hcn4 |
A |
G |
9: 58,760,682 (GRCm39) |
Y409C |
unknown |
Het |
Hspa1l |
A |
G |
17: 35,196,231 (GRCm39) |
K90R |
probably benign |
Het |
Icam5 |
T |
C |
9: 20,948,297 (GRCm39) |
S702P |
possibly damaging |
Het |
Ifnar1 |
A |
G |
16: 91,296,444 (GRCm39) |
H315R |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,168,224 (GRCm39) |
H14R |
probably damaging |
Het |
Krt78 |
A |
G |
15: 101,855,829 (GRCm39) |
Y661H |
probably benign |
Het |
Krtap11-1 |
T |
C |
16: 89,367,813 (GRCm39) |
T69A |
possibly damaging |
Het |
L3mbtl3 |
C |
A |
10: 26,168,560 (GRCm39) |
S598I |
unknown |
Het |
Lama1 |
A |
T |
17: 68,059,441 (GRCm39) |
D608V |
|
Het |
Lrrc55 |
G |
A |
2: 85,026,784 (GRCm39) |
T80I |
probably damaging |
Het |
Lyst |
A |
T |
13: 13,818,094 (GRCm39) |
T1255S |
probably benign |
Het |
Magi2 |
T |
C |
5: 20,670,586 (GRCm39) |
V310A |
probably damaging |
Het |
Med23 |
C |
A |
10: 24,777,902 (GRCm39) |
A750D |
probably benign |
Het |
Mmp2 |
G |
A |
8: 93,558,414 (GRCm39) |
R161Q |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,387,321 (GRCm39) |
I733F |
probably benign |
Het |
Ncan |
A |
T |
8: 70,552,961 (GRCm39) |
F1090L |
possibly damaging |
Het |
Or2ag2b |
T |
G |
7: 106,418,202 (GRCm39) |
V304G |
probably damaging |
Het |
Otulinl |
G |
A |
15: 27,658,273 (GRCm39) |
T199M |
probably benign |
Het |
Pafah1b1 |
A |
G |
11: 74,573,104 (GRCm39) |
I320T |
probably damaging |
Het |
Pcdhb1 |
T |
A |
18: 37,399,740 (GRCm39) |
Y564N |
probably damaging |
Het |
Pear1 |
A |
G |
3: 87,657,596 (GRCm39) |
S988P |
probably benign |
Het |
Pgam2 |
A |
C |
11: 5,753,013 (GRCm39) |
V194G |
probably damaging |
Het |
Plvap |
A |
T |
8: 71,964,221 (GRCm39) |
I47N |
probably damaging |
Het |
Prdx6 |
A |
T |
1: 161,074,867 (GRCm39) |
L71H |
probably damaging |
Het |
Psmb11 |
G |
A |
14: 54,863,408 (GRCm39) |
V209M |
probably damaging |
Het |
Ptprn2 |
G |
A |
12: 117,190,845 (GRCm39) |
|
probably null |
Het |
Rcn2 |
T |
A |
9: 55,964,763 (GRCm39) |
N240K |
probably benign |
Het |
Rsad2 |
A |
T |
12: 26,504,122 (GRCm39) |
Y136N |
probably damaging |
Het |
Slc12a4 |
T |
G |
8: 106,673,369 (GRCm39) |
Q734P |
probably benign |
Het |
Smarcc2 |
T |
A |
10: 128,323,917 (GRCm39) |
M1085K |
unknown |
Het |
Smg1 |
A |
T |
7: 117,776,178 (GRCm39) |
C1371S |
probably benign |
Het |
Srsf10 |
C |
T |
4: 135,583,528 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
T |
C |
10: 9,673,931 (GRCm39) |
Y4C |
probably damaging |
Het |
Tdrd12 |
T |
A |
7: 35,179,705 (GRCm39) |
D881V |
unknown |
Het |
Tmem171 |
T |
C |
13: 98,829,133 (GRCm39) |
T6A |
probably benign |
Het |
Tmem220 |
T |
C |
11: 66,916,989 (GRCm39) |
L55P |
unknown |
Het |
Ttn |
G |
T |
2: 76,677,125 (GRCm39) |
P11037Q |
unknown |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,692,084 (GRCm39) |
S849P |
probably benign |
Het |
Vcan |
G |
A |
13: 89,853,389 (GRCm39) |
P524S |
possibly damaging |
Het |
Vmn1r18 |
A |
G |
6: 57,367,083 (GRCm39) |
M157T |
probably benign |
Het |
Vmn2r109 |
A |
T |
17: 20,761,225 (GRCm39) |
C711S |
possibly damaging |
Het |
Wasf3 |
C |
T |
5: 146,392,463 (GRCm39) |
R178C |
probably damaging |
Het |
Wdr76 |
G |
A |
2: 121,359,401 (GRCm39) |
V231I |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,355,895 (GRCm39) |
N3552I |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,088,969 (GRCm39) |
T933A |
probably benign |
Het |
Zmynd8 |
A |
G |
2: 165,699,973 (GRCm39) |
|
probably null |
Het |
Zranb3 |
A |
T |
1: 127,968,630 (GRCm39) |
I95K |
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 |
|
R6226:Spg11
|
UTSW |
2 |
121,918,743 (GRCm39) |
missense |
possibly damaging |
0.69 |
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 |
|
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'- TCCAGGCAGCAGAAGTGAATTATG -3'
(R):5'- GCACGTGAAGAGCAGTGATC -3'
Sequencing Primer
(F):5'- ACAAGTCACACTTTGGGCTG -3'
(R):5'- TGATCCAGGAAGGCCGTG -3'
|
Posted On |
2019-06-26 |