Incidental Mutation 'R5154:Spart'
ID 396558
Institutional Source Beutler Lab
Gene Symbol Spart
Ensembl Gene ENSMUSG00000036580
Gene Name spartin
Synonyms TAHCCP1, Spg20
MMRRC Submission 042736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R5154 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 55019529-55044743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55024750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 115 (P115L)
Ref Sequence ENSEMBL: ENSMUSP00000121683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044116] [ENSMUST00000107971] [ENSMUST00000117341] [ENSMUST00000118118] [ENSMUST00000146109] [ENSMUST00000149767]
AlphaFold Q8R1X6
Predicted Effect probably damaging
Transcript: ENSMUST00000044116
AA Change: P115L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042367
Gene: ENSMUSG00000036580
AA Change: P115L

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 8e-4 SMART
low complexity region 369 381 N/A INTRINSIC
low complexity region 408 426 N/A INTRINSIC
Pfam:Senescence 431 616 9.7e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107971
AA Change: P115L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103605
Gene: ENSMUSG00000036580
AA Change: P115L

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 9e-4 SMART
low complexity region 351 369 N/A INTRINSIC
Pfam:Senescence 373 560 3.2e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117341
AA Change: P115L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113968
Gene: ENSMUSG00000036580
AA Change: P115L

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 8e-4 SMART
low complexity region 369 381 N/A INTRINSIC
low complexity region 408 426 N/A INTRINSIC
Pfam:Senescence 430 582 9.3e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118118
AA Change: P115L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113621
Gene: ENSMUSG00000036580
AA Change: P115L

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
SCOP:d1bw0a_ 158 254 8e-4 SMART
low complexity region 369 381 N/A INTRINSIC
low complexity region 408 426 N/A INTRINSIC
Pfam:Senescence 430 617 3.8e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146109
AA Change: P115L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121683
Gene: ENSMUSG00000036580
AA Change: P115L

DomainStartEndE-ValueType
MIT 16 94 4.64e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149767
SMART Domains Protein: ENSMUSP00000119719
Gene: ENSMUSG00000036580

DomainStartEndE-ValueType
MIT 16 92 6.83e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200658
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired lipid droplet amintenance, cytokinesis and impaired motor coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A C 4: 39,450,938 (GRCm39) H48P probably damaging Het
Angptl7 C T 4: 148,581,882 (GRCm39) R168H probably damaging Het
Ankrd11 A C 8: 123,619,878 (GRCm39) F1325V probably damaging Het
Ankrd13c A G 3: 157,694,297 (GRCm39) D266G possibly damaging Het
Apold1 A T 6: 134,960,636 (GRCm39) H30L possibly damaging Het
Arel1 A G 12: 84,978,547 (GRCm39) F362L probably benign Het
Arhgef4 T A 1: 34,771,455 (GRCm39) M1254K probably benign Het
Arid2 T A 15: 96,299,866 (GRCm39) V1793E probably damaging Het
Bcl7a T C 5: 123,507,422 (GRCm39) S156P probably damaging Het
Cbr3 A G 16: 93,482,027 (GRCm39) I128V probably benign Het
Cct6b G A 11: 82,630,521 (GRCm39) P299L probably damaging Het
Cd180 A T 13: 102,842,282 (GRCm39) N443Y probably damaging Het
Cd80 A G 16: 38,294,342 (GRCm39) K75R probably benign Het
Cdk1 A T 10: 69,176,298 (GRCm39) probably benign Het
Cep192 T A 18: 67,983,755 (GRCm39) F1565I probably damaging Het
Chtf18 T C 17: 25,942,694 (GRCm39) T412A probably damaging Het
Cit T C 5: 116,126,464 (GRCm39) L1590P probably damaging Het
Clcn2 T A 16: 20,522,053 (GRCm39) R845S probably benign Het
Cndp2 C T 18: 84,686,727 (GRCm39) V432I probably benign Het
Cnnm2 A T 19: 46,751,571 (GRCm39) R454W probably benign Het
Cpne8 T G 15: 90,384,121 (GRCm39) I480L probably benign Het
Cr2 A G 1: 194,841,754 (GRCm39) W400R probably damaging Het
Cul5 A G 9: 53,537,167 (GRCm39) L528P probably damaging Het
Dlgap5 C T 14: 47,651,177 (GRCm39) V119M probably damaging Het
Dnah12 T C 14: 26,571,320 (GRCm39) S190P probably benign Het
Dnah3 T A 7: 119,551,642 (GRCm39) K2881N probably damaging Het
Dnmt3a A T 12: 3,946,008 (GRCm39) I288F probably damaging Het
Dse T A 10: 34,029,657 (GRCm39) T478S possibly damaging Het
Edn1 C T 13: 42,458,499 (GRCm39) T104I probably benign Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eprs1 A G 1: 185,145,662 (GRCm39) H1157R probably damaging Het
Fam168b G A 1: 34,857,180 (GRCm39) T179I possibly damaging Het
Fzd5 A G 1: 64,775,131 (GRCm39) V210A probably benign Het
Gm9742 T C 13: 8,085,081 (GRCm39) noncoding transcript Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Gpr141 C T 13: 19,936,412 (GRCm39) R121K probably benign Het
Greb1l A G 18: 10,458,312 (GRCm39) T30A probably benign Het
Grk3 A T 5: 113,089,583 (GRCm39) I281N probably damaging Het
Hnrnpdl A T 5: 100,184,371 (GRCm39) Y289* probably null Het
Hsf2 T G 10: 57,380,808 (GRCm39) V214G probably benign Het
Igf2bp1 G A 11: 95,854,373 (GRCm39) Q563* probably null Het
Il31ra T A 13: 112,660,531 (GRCm39) D605V possibly damaging Het
Insm2 G A 12: 55,646,982 (GRCm39) C242Y probably damaging Het
Ints3 C T 3: 90,322,868 (GRCm39) V121I probably benign Het
Kcnt2 A T 1: 140,278,994 (GRCm39) L48F possibly damaging Het
Kit G A 5: 75,801,200 (GRCm39) V529M probably damaging Het
Mark2 G A 19: 7,260,439 (GRCm39) P13S probably damaging Het
Mthfsd A G 8: 121,825,479 (GRCm39) V364A probably damaging Het
Mtmr11 C G 3: 96,071,636 (GRCm39) S185R probably benign Het
Myot A G 18: 44,487,281 (GRCm39) I373V probably benign Het
N4bp3 A T 11: 51,536,139 (GRCm39) V231D probably benign Het
Or5t17 T C 2: 86,832,382 (GRCm39) V23A probably benign Het
Or8k39 A T 2: 86,563,121 (GRCm39) Y278* probably null Het
Pdcd6ip A G 9: 113,520,610 (GRCm39) F125L probably damaging Het
Prpf39 A T 12: 65,095,051 (GRCm39) Q124L probably benign Het
Reln A T 5: 22,193,763 (GRCm39) N1398K probably damaging Het
Rhod A T 19: 4,482,122 (GRCm39) D97E probably damaging Het
Rxra T C 2: 27,647,880 (GRCm39) probably null Het
Slc1a3 T C 15: 8,672,433 (GRCm39) I349V probably benign Het
Slc37a2 A T 9: 37,142,939 (GRCm39) *502R probably null Het
Slc9b1 T C 3: 135,078,940 (GRCm39) I199T probably damaging Het
Tnpo1 A T 13: 99,006,813 (GRCm39) C205S possibly damaging Het
Tubb1 T A 2: 174,298,657 (GRCm39) I113N probably benign Het
Tyrp1 G A 4: 80,768,954 (GRCm39) V483I probably benign Het
Vwde T C 6: 13,215,757 (GRCm39) S100G probably benign Het
Zfhx3 A T 8: 109,527,207 (GRCm39) I1035F probably damaging Het
Zfp618 G T 4: 63,051,446 (GRCm39) K742N probably damaging Het
Zfp873 T C 10: 81,896,025 (GRCm39) V252A possibly damaging Het
Other mutations in Spart
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Spart APN 3 55,029,177 (GRCm39) missense probably damaging 1.00
IGL01539:Spart APN 3 55,024,723 (GRCm39) missense possibly damaging 0.95
IGL01982:Spart APN 3 55,035,911 (GRCm39) splice site probably null
IGL02345:Spart APN 3 55,025,147 (GRCm39) splice site probably null
IGL03217:Spart APN 3 55,035,912 (GRCm39) splice site probably benign
IGL03344:Spart APN 3 55,029,106 (GRCm39) missense probably benign 0.03
BB007:Spart UTSW 3 55,035,697 (GRCm39) missense probably damaging 1.00
BB017:Spart UTSW 3 55,035,697 (GRCm39) missense probably damaging 1.00
R0145:Spart UTSW 3 55,035,092 (GRCm39) nonsense probably null
R0522:Spart UTSW 3 55,035,786 (GRCm39) missense probably damaging 1.00
R1506:Spart UTSW 3 55,024,992 (GRCm39) missense probably damaging 0.99
R2043:Spart UTSW 3 55,034,969 (GRCm39) missense probably damaging 1.00
R2183:Spart UTSW 3 55,024,554 (GRCm39) missense probably benign 0.43
R4022:Spart UTSW 3 55,025,157 (GRCm39) missense probably damaging 1.00
R5869:Spart UTSW 3 55,042,931 (GRCm39) missense probably benign 0.00
R5987:Spart UTSW 3 55,033,962 (GRCm39) missense probably benign 0.00
R6142:Spart UTSW 3 55,024,669 (GRCm39) missense probably damaging 1.00
R6185:Spart UTSW 3 55,024,640 (GRCm39) missense probably damaging 1.00
R6652:Spart UTSW 3 55,032,248 (GRCm39) missense probably benign 0.00
R6791:Spart UTSW 3 55,034,982 (GRCm39) missense probably damaging 1.00
R7131:Spart UTSW 3 55,029,220 (GRCm39) critical splice donor site probably null
R7930:Spart UTSW 3 55,035,697 (GRCm39) missense probably damaging 1.00
R8005:Spart UTSW 3 55,024,773 (GRCm39) missense probably benign 0.00
R8458:Spart UTSW 3 55,032,315 (GRCm39) missense probably damaging 1.00
R8734:Spart UTSW 3 55,032,300 (GRCm39) missense possibly damaging 0.92
R8791:Spart UTSW 3 55,029,100 (GRCm39) missense probably benign 0.19
R8929:Spart UTSW 3 55,035,979 (GRCm39) missense possibly damaging 0.96
R9060:Spart UTSW 3 55,032,275 (GRCm39) missense probably benign 0.02
R9172:Spart UTSW 3 55,032,267 (GRCm39) missense possibly damaging 0.68
R9539:Spart UTSW 3 55,034,924 (GRCm39) missense probably damaging 1.00
R9695:Spart UTSW 3 55,033,955 (GRCm39) missense probably benign
RF009:Spart UTSW 3 55,035,027 (GRCm39) missense probably benign 0.00
X0018:Spart UTSW 3 55,042,920 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTTAGGGGCATCAGCATC -3'
(R):5'- TCCATAGGAAACAGTGTAGTGG -3'

Sequencing Primer
(F):5'- GCATCGCGGCTGCAGAG -3'
(R):5'- AAACAGTGTAGTGGCCCTCAGC -3'
Posted On 2016-06-21