Incidental Mutation 'R8024:Spg11'
ID 617562
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 067463-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R8024 (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 G at 121927802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 661 (S661P)
Ref Sequence ENSEMBL: ENSMUSP00000037543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036450]
AlphaFold Q3UHA3
Predicted Effect possibly damaging
Transcript: ENSMUST00000036450
AA Change: S661P

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000037543
Gene: ENSMUSG00000033396
AA Change: S661P

DomainStartEndE-ValueType
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 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (74/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,760,713 (GRCm39) N1257Y probably benign Het
2310057J18Rik A T 10: 28,858,591 (GRCm39) Y133* probably null Het
2310057J18Rik A C 10: 28,862,213 (GRCm39) S26A possibly damaging Het
9930012K11Rik G T 14: 70,394,116 (GRCm39) P220T probably damaging Het
Adam1b A C 5: 121,638,986 (GRCm39) S686R probably benign Het
Adam8 T C 7: 139,567,489 (GRCm39) D418G probably damaging Het
Adcy8 A G 15: 64,792,095 (GRCm39) L287P probably damaging Het
Adhfe1 T A 1: 9,634,080 (GRCm39) M373K probably benign Het
Alpk2 T C 18: 65,438,106 (GRCm39) S1096G probably benign Het
Ankmy1 A G 1: 92,812,716 (GRCm39) V531A probably benign Het
Ano3 C T 2: 110,498,128 (GRCm39) E738K probably damaging Het
Ano4 T A 10: 88,807,194 (GRCm39) I796F probably damaging Het
Apeh T C 9: 107,969,790 (GRCm39) E190G probably benign Het
Atpsckmt T C 15: 31,608,317 (GRCm39) Y123H probably damaging Het
Cadm3 A G 1: 173,165,622 (GRCm39) L346P probably damaging Het
Ccdc9b A G 2: 118,591,005 (GRCm39) probably null Het
Clec2e G A 6: 129,071,388 (GRCm39) H150Y possibly damaging Het
Cnga4 A T 7: 105,056,042 (GRCm39) N318Y probably damaging Het
Cnr2 T A 4: 135,644,196 (GRCm39) F91L probably damaging Het
Diaph3 T A 14: 86,893,835 (GRCm39) E1147V probably damaging Het
Elmo2 T C 2: 165,133,775 (GRCm39) T738A unknown Het
Exoc4 T A 6: 33,324,866 (GRCm39) W387R probably damaging Het
Focad T C 4: 88,315,237 (GRCm39) V1379A unknown Het
Frmd4a T C 2: 4,608,513 (GRCm39) S794P probably damaging Het
Ftl1-ps1 A G 13: 74,555,170 (GRCm39) T150A probably benign Het
Gm43517 A T 12: 49,436,409 (GRCm39) probably benign Het
Gm5773 C T 3: 93,680,475 (GRCm39) A49V probably benign Het
Helz T A 11: 107,577,247 (GRCm39) L1867Q unknown Het
Il22ra1 A G 4: 135,461,589 (GRCm39) H118R probably benign Het
Inf2 C T 12: 112,575,336 (GRCm39) P856S unknown Het
Ints5 T A 19: 8,873,504 (GRCm39) L488I probably damaging Het
Iqca1l A G 5: 24,755,634 (GRCm39) M296T possibly damaging Het
Kifc1 G A 17: 34,102,177 (GRCm39) R479C probably damaging Het
Lrba T A 3: 86,202,708 (GRCm39) C289* probably null Het
Mael A G 1: 166,054,196 (GRCm39) L196S probably damaging Het
Med23 T A 10: 24,755,581 (GRCm39) S229R possibly damaging Het
Mroh9 T C 1: 162,866,802 (GRCm39) N645D probably benign Het
Myom3 G A 4: 135,529,059 (GRCm39) V1132I probably benign Het
Naalad2 T G 9: 18,308,769 (GRCm39) probably benign Het
Ndufa13 A T 8: 70,347,187 (GRCm39) L71H probably damaging Het
Nepro A T 16: 44,551,778 (GRCm39) H212L probably benign Het
Nmd3 T A 3: 69,637,298 (GRCm39) probably benign Het
Nox4 T A 7: 86,954,118 (GRCm39) L141Q probably damaging Het
Or4a81 T C 2: 89,619,390 (GRCm39) E102G probably benign Het
Or5p53 T C 7: 107,533,645 (GRCm39) V306A probably benign Het
Or5p58 T A 7: 107,694,496 (GRCm39) T94S probably benign Het
Or6c215 T G 10: 129,637,812 (GRCm39) E194A probably damaging Het
Or8s2 T A 15: 98,276,878 (GRCm39) M38L probably benign Het
Pfpl A G 19: 12,407,570 (GRCm39) D607G possibly damaging Het
Pkd1l2 A T 8: 117,802,921 (GRCm39) F233L possibly damaging Het
Prl6a1 A G 13: 27,502,678 (GRCm39) probably benign Het
Ptprz1 A T 6: 23,042,750 (GRCm39) E2058V probably damaging Het
Rag1 A T 2: 101,472,852 (GRCm39) N763K probably damaging Het
Rhbg A C 3: 88,155,760 (GRCm39) D63E probably damaging Het
Rrm1 T A 7: 102,106,472 (GRCm39) F330L probably benign Het
Scaf8 A T 17: 3,209,568 (GRCm39) Q97L unknown Het
Sdr9c7 G A 10: 127,734,751 (GRCm39) V80I probably benign Het
Slc18a1 A G 8: 69,527,799 (GRCm39) V4A probably benign Het
Slco3a1 T A 7: 74,204,218 (GRCm39) I41F probably benign Het
Slirp T C 12: 87,494,370 (GRCm39) V45A probably damaging Het
Spata31 A T 13: 65,070,618 (GRCm39) Q922L probably benign Het
Stab2 G T 10: 86,681,916 (GRCm39) T2495K probably benign Het
Supt16 A G 14: 52,408,332 (GRCm39) I871T probably damaging Het
Sval2 A G 6: 41,837,298 (GRCm39) Q9R probably damaging Het
Syngap1 A T 17: 27,160,426 (GRCm39) M1L probably benign Het
Tfpi A T 2: 84,284,266 (GRCm39) M62K possibly damaging Het
Tm4sf1 A T 3: 57,195,186 (GRCm39) Y200* probably null Het
Tmc1 A T 19: 20,878,181 (GRCm39) W105R probably damaging Het
Tmtc2 T C 10: 105,025,987 (GRCm39) E827G probably benign Het
Tollip T C 7: 141,446,563 (GRCm39) I33V probably benign Het
Unc80 T A 1: 66,645,803 (GRCm39) V1493D possibly damaging Het
Vmn2r6 G A 3: 64,467,245 (GRCm39) R85W probably benign Het
Vwa5a C A 9: 38,647,316 (GRCm39) S565* probably null Het
Xbp1 T A 11: 5,471,910 (GRCm39) V12D probably benign Het
Other mutations in Spg11
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CCAAAGACTCTACACCGGTG -3'
(R):5'- CAACAAGTCATGATATGTTCTCCTTCC -3'

Sequencing Primer
(F):5'- AAGACTCTACACCGGTGTGCAG -3'
(R):5'- TGTTTACACATGCATGCACAC -3'
Posted On 2020-01-23