Incidental Mutation 'IGL02212:Spg11'
ID |
285547 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Spg11
|
Ensembl Gene |
ENSMUSG00000033396 |
Gene Name |
SPG11, spatacsin vesicle trafficking associated |
Synonyms |
6030465E24Rik, C530005A01Rik, spastic paraplegia 11 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
IGL02212
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
121884001-121948867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121938638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 439
(T439A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037543
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036450]
|
AlphaFold |
Q3UHA3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036450
AA Change: T439A
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000037543 Gene: ENSMUSG00000033396 AA Change: T439A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133145
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135847
|
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 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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
A |
2: 69,079,233 (GRCm39) |
D1079V |
probably damaging |
Het |
Adam18 |
T |
C |
8: 25,127,195 (GRCm39) |
H467R |
probably benign |
Het |
Ambra1 |
T |
G |
2: 91,747,706 (GRCm39) |
D1056E |
probably damaging |
Het |
Aoah |
A |
C |
13: 21,187,071 (GRCm39) |
N456T |
probably benign |
Het |
Batf2 |
T |
A |
19: 6,221,991 (GRCm39) |
F267Y |
probably damaging |
Het |
Bbs7 |
C |
T |
3: 36,648,558 (GRCm39) |
V397I |
probably benign |
Het |
Bbs9 |
T |
A |
9: 22,723,808 (GRCm39) |
D824E |
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Brip1 |
A |
T |
11: 86,029,841 (GRCm39) |
V601E |
possibly damaging |
Het |
Bub1 |
A |
G |
2: 127,647,271 (GRCm39) |
F773L |
probably damaging |
Het |
Cadps |
A |
T |
14: 12,522,345 (GRCm38) |
D606E |
possibly damaging |
Het |
Cenps |
T |
G |
4: 149,213,303 (GRCm39) |
D54A |
probably damaging |
Het |
Cep170 |
T |
A |
1: 176,563,502 (GRCm39) |
N1504I |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,382,748 (GRCm39) |
V1340A |
possibly damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,052,091 (GRCm39) |
S667T |
probably benign |
Het |
Defa38 |
C |
T |
8: 21,585,276 (GRCm39) |
|
probably benign |
Het |
Dgkb |
A |
G |
12: 38,189,413 (GRCm39) |
Y272C |
probably damaging |
Het |
Dlx3 |
A |
G |
11: 95,011,467 (GRCm39) |
D107G |
probably benign |
Het |
Drd3 |
A |
T |
16: 43,582,675 (GRCm39) |
N56I |
probably benign |
Het |
Elavl4 |
T |
A |
4: 110,063,609 (GRCm39) |
I331F |
probably damaging |
Het |
Fam167a |
T |
G |
14: 63,700,078 (GRCm39) |
S213A |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,698,729 (GRCm39) |
I2489N |
probably damaging |
Het |
Fbxo43 |
T |
C |
15: 36,151,957 (GRCm39) |
K587E |
probably damaging |
Het |
Fscn2 |
A |
G |
11: 120,252,881 (GRCm39) |
D116G |
probably damaging |
Het |
Galm |
T |
C |
17: 80,457,546 (GRCm39) |
V194A |
probably benign |
Het |
Gpr180 |
T |
A |
14: 118,397,588 (GRCm39) |
F361I |
probably damaging |
Het |
Gpx2 |
A |
T |
12: 76,839,682 (GRCm39) |
C105* |
probably null |
Het |
Gsdmc2 |
A |
T |
15: 63,699,911 (GRCm39) |
|
probably benign |
Het |
Hes2 |
T |
G |
4: 152,244,982 (GRCm39) |
S150R |
probably damaging |
Het |
Ighv1-56 |
C |
T |
12: 115,206,417 (GRCm39) |
|
probably benign |
Het |
Inhbb |
A |
T |
1: 119,345,713 (GRCm39) |
V192D |
probably benign |
Het |
Itgal |
A |
T |
7: 126,900,152 (GRCm39) |
M137L |
probably benign |
Het |
Jak2 |
A |
G |
19: 29,265,382 (GRCm39) |
N470D |
probably benign |
Het |
Jph1 |
T |
C |
1: 17,161,981 (GRCm39) |
E227G |
probably damaging |
Het |
Kcnj6 |
A |
T |
16: 94,633,346 (GRCm39) |
I237N |
probably damaging |
Het |
Kctd8 |
G |
T |
5: 69,498,031 (GRCm39) |
P205Q |
probably benign |
Het |
Klhdc1 |
A |
T |
12: 69,297,540 (GRCm39) |
N37I |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,281,608 (GRCm39) |
H3921L |
probably benign |
Het |
Lrp8os2 |
T |
C |
4: 107,664,245 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
A |
C |
7: 80,012,056 (GRCm39) |
D700E |
probably benign |
Het |
Mast1 |
A |
T |
8: 85,648,026 (GRCm39) |
L485Q |
probably damaging |
Het |
Mmp3 |
A |
G |
9: 7,450,165 (GRCm39) |
D299G |
probably damaging |
Het |
Mptx2 |
T |
A |
1: 173,102,248 (GRCm39) |
D147V |
possibly damaging |
Het |
Mrpl9 |
T |
A |
3: 94,351,124 (GRCm39) |
|
probably null |
Het |
Mup21 |
T |
G |
4: 62,066,829 (GRCm39) |
E137A |
probably damaging |
Het |
Mutyh |
T |
A |
4: 116,672,803 (GRCm39) |
V52D |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,752,742 (GRCm39) |
S340C |
probably damaging |
Het |
Neb |
A |
G |
2: 52,198,323 (GRCm39) |
Y474H |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,815,626 (GRCm39) |
E560G |
possibly damaging |
Het |
Ntn4 |
A |
G |
10: 93,480,711 (GRCm39) |
D145G |
possibly damaging |
Het |
Nup93 |
G |
A |
8: 95,038,290 (GRCm39) |
|
probably null |
Het |
Or1j17 |
A |
G |
2: 36,578,194 (GRCm39) |
Y60C |
probably damaging |
Het |
Or2n1b |
C |
A |
17: 38,459,746 (GRCm39) |
T89K |
probably benign |
Het |
Or2y14 |
A |
T |
11: 49,404,737 (GRCm39) |
I91F |
probably damaging |
Het |
Or52b2 |
C |
T |
7: 104,986,350 (GRCm39) |
C191Y |
probably damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,489,465 (GRCm39) |
V40E |
possibly damaging |
Het |
Peg3 |
C |
T |
7: 6,714,415 (GRCm39) |
R269H |
probably benign |
Het |
Piwil1 |
T |
A |
5: 128,827,334 (GRCm39) |
F648I |
possibly damaging |
Het |
Psd4 |
A |
T |
2: 24,295,326 (GRCm39) |
K827* |
probably null |
Het |
Retsat |
T |
A |
6: 72,578,693 (GRCm39) |
L135* |
probably null |
Het |
Rtp3 |
A |
G |
9: 110,816,389 (GRCm39) |
|
probably benign |
Het |
Samd14 |
A |
G |
11: 94,914,176 (GRCm39) |
Y305C |
probably damaging |
Het |
Satb1 |
T |
A |
17: 52,082,319 (GRCm39) |
Q445L |
possibly damaging |
Het |
Shbg |
A |
G |
11: 69,508,035 (GRCm39) |
L110P |
probably damaging |
Het |
Slc17a6 |
T |
A |
7: 51,317,218 (GRCm39) |
I413N |
possibly damaging |
Het |
Slu7 |
A |
T |
11: 43,331,469 (GRCm39) |
Q201L |
probably benign |
Het |
Sstr5 |
A |
T |
17: 25,710,647 (GRCm39) |
L194Q |
possibly damaging |
Het |
Tjp2 |
A |
T |
19: 24,116,150 (GRCm39) |
L13Q |
probably damaging |
Het |
Tnk2 |
G |
A |
16: 32,498,960 (GRCm39) |
V758I |
probably damaging |
Het |
Ttll8 |
C |
A |
15: 88,801,450 (GRCm39) |
V413L |
probably benign |
Het |
Wiz |
T |
C |
17: 32,587,109 (GRCm39) |
D67G |
probably damaging |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |