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) question?
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

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 0.0842 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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