Incidental Mutation 'R7047:Sacs'
ID 547387
Institutional Source Beutler Lab
Gene Symbol Sacs
Ensembl Gene ENSMUSG00000048279
Gene Name sacsin
Synonyms E130115J16Rik
MMRRC Submission 045145-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7047 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 61375906-61478144 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61450451 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 4166 (I4166F)
Ref Sequence ENSEMBL: ENSMUSP00000113377 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089394] [ENSMUST00000119943]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000089394
SMART Domains Protein: ENSMUSP00000086816
Gene: ENSMUSG00000048279

DomainStartEndE-ValueType
SCOP:d1lm8b_ 8 66 3e-3 SMART
Blast:UBQ 9 81 3e-31 BLAST
Blast:HATPase_c 116 211 2e-10 BLAST
low complexity region 608 623 N/A INTRINSIC
low complexity region 664 673 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119943
AA Change: I4166F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113377
Gene: ENSMUSG00000048279
AA Change: I4166F

DomainStartEndE-ValueType
internal_repeat_1 61 514 1.35e-52 PROSPERO
low complexity region 608 623 N/A INTRINSIC
low complexity region 664 673 N/A INTRINSIC
low complexity region 1019 1033 N/A INTRINSIC
low complexity region 1131 1145 N/A INTRINSIC
low complexity region 1526 1537 N/A INTRINSIC
low complexity region 2454 2463 N/A INTRINSIC
internal_repeat_1 2475 2934 1.35e-52 PROSPERO
low complexity region 3751 3760 N/A INTRINSIC
low complexity region 3997 4012 N/A INTRINSIC
low complexity region 4285 4300 N/A INTRINSIC
Blast:DnaJ 4304 4363 1e-31 BLAST
PDB:1IUR|A 4309 4376 5e-39 PDB
SCOP:d1gh6a_ 4317 4407 2e-3 SMART
HEPN 4454 4570 9.49e-24 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (53/54)
MGI Phenotype PHENOTYPE: Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A T 14: 32,382,131 (GRCm39) I1278N possibly damaging Het
Adcy5 T A 16: 35,087,585 (GRCm39) L482Q probably damaging Het
Adora2a A G 10: 75,162,145 (GRCm39) I95V probably damaging Het
Anapc1 A C 2: 128,457,350 (GRCm39) C1887G probably damaging Het
Arfgef2 T A 2: 166,693,865 (GRCm39) probably null Het
Capn11 G T 17: 45,949,622 (GRCm39) S448* probably null Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Cep55 T A 19: 38,048,539 (GRCm39) V65D possibly damaging Het
Col5a1 A G 2: 27,818,096 (GRCm39) K107R unknown Het
Dbh T A 2: 27,055,622 (GRCm39) I32N possibly damaging Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dzip3 A T 16: 48,802,489 (GRCm39) N13K probably benign Het
Emilin1 A G 5: 31,074,422 (GRCm39) N221S probably benign Het
Ext2 A G 2: 93,570,002 (GRCm39) F470L probably damaging Het
Filip1 T A 9: 79,760,916 (GRCm39) Q206L probably damaging Het
Garin1b T A 6: 29,323,809 (GRCm39) L178H probably damaging Het
Gpr63 G T 4: 25,007,320 (GRCm39) A15S probably benign Het
Grhl3 T C 4: 135,276,551 (GRCm39) probably null Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Ift172 G T 5: 31,433,238 (GRCm39) Y193* probably null Het
Ints1 A C 5: 139,744,226 (GRCm39) L1512* probably null Het
Kat2b A G 17: 53,970,597 (GRCm39) Q661R probably benign Het
Kat6a A G 8: 23,428,554 (GRCm39) N1303S possibly damaging Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Maml2 T C 9: 13,532,177 (GRCm39) probably benign Het
Mixl1 A G 1: 180,524,183 (GRCm39) probably null Het
Mocs1 T C 17: 49,759,887 (GRCm39) probably null Het
Ms4a15 T G 19: 10,962,236 (GRCm39) N36T probably damaging Het
Msr1 G A 8: 40,095,657 (GRCm39) T2I possibly damaging Het
Nlgn1 A C 3: 25,490,199 (GRCm39) Y509* probably null Het
Nsmce1 C A 7: 125,090,606 (GRCm39) G4C probably benign Het
Or4c113 A T 2: 88,885,490 (GRCm39) F93L probably damaging Het
Or51v15-ps1 A G 7: 103,278,918 (GRCm39) V83A probably damaging Het
Pan3 G A 5: 147,483,175 (GRCm39) G452D probably damaging Het
Pcyox1 G T 6: 86,365,891 (GRCm39) P441H probably damaging Het
Phf12 T C 11: 77,904,099 (GRCm39) V273A probably damaging Het
Plcd4 A G 1: 74,591,148 (GRCm39) E181G possibly damaging Het
Ptgfr A T 3: 151,541,178 (GRCm39) I110N possibly damaging Het
Rab40c A C 17: 26,138,458 (GRCm39) V8G probably damaging Het
Rasal3 T A 17: 32,615,458 (GRCm39) Y460F probably damaging Het
Rhbdf2 A G 11: 116,494,477 (GRCm39) probably null Het
Ryr2 T A 13: 11,839,286 (GRCm39) N496Y possibly damaging Het
Sh2d3c T C 2: 32,611,172 (GRCm39) M1T probably null Het
Smarca2 C T 19: 26,646,555 (GRCm39) S651L possibly damaging Het
Sned1 A T 1: 93,213,540 (GRCm39) R1204S possibly damaging Het
Spata31d1b T C 13: 59,860,249 (GRCm39) Y41H probably damaging Het
Stab2 C T 10: 86,694,016 (GRCm39) C2075Y probably damaging Het
Tcte1 A T 17: 45,844,294 (GRCm39) Q90L possibly damaging Het
Tll2 C T 19: 41,074,679 (GRCm39) G945S probably damaging Het
Tmbim7 A T 5: 3,720,112 (GRCm39) T116S probably benign Het
Tnfrsf19 A T 14: 61,242,667 (GRCm39) C72* probably null Het
Usp17le T A 7: 104,417,640 (GRCm39) T501S probably benign Het
Wnt5b T A 6: 119,425,217 (GRCm39) probably benign Het
Other mutations in Sacs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01540:Sacs APN 14 61,429,084 (GRCm39) missense possibly damaging 0.64
IGL01839:Sacs APN 14 61,421,394 (GRCm39) intron probably benign
IGL02024:Sacs APN 14 61,427,127 (GRCm39) missense probably damaging 0.96
IGL02247:Sacs APN 14 61,429,984 (GRCm39) missense probably damaging 1.00
BB009:Sacs UTSW 14 61,442,327 (GRCm39) missense probably damaging 0.99
BB019:Sacs UTSW 14 61,442,327 (GRCm39) missense probably damaging 0.99
F6893:Sacs UTSW 14 61,450,425 (GRCm39) missense probably benign
IGL03052:Sacs UTSW 14 61,445,307 (GRCm39) missense probably damaging 0.99
R0090:Sacs UTSW 14 61,442,889 (GRCm39) missense probably damaging 1.00
R0102:Sacs UTSW 14 61,442,017 (GRCm39) missense probably damaging 1.00
R0102:Sacs UTSW 14 61,442,017 (GRCm39) missense probably damaging 1.00
R0390:Sacs UTSW 14 61,443,089 (GRCm39) missense possibly damaging 0.92
R0479:Sacs UTSW 14 61,428,928 (GRCm39) missense probably damaging 0.99
R0556:Sacs UTSW 14 61,421,407 (GRCm39) missense probably damaging 0.99
R0673:Sacs UTSW 14 61,447,664 (GRCm39) missense possibly damaging 0.89
R0748:Sacs UTSW 14 61,446,714 (GRCm39) missense probably damaging 0.99
R0931:Sacs UTSW 14 61,440,944 (GRCm39) missense probably benign
R0972:Sacs UTSW 14 61,449,412 (GRCm39) nonsense probably null
R1281:Sacs UTSW 14 61,429,250 (GRCm39) missense probably benign 0.02
R1340:Sacs UTSW 14 61,441,958 (GRCm39) missense probably damaging 0.98
R1351:Sacs UTSW 14 61,440,210 (GRCm39) missense probably benign 0.00
R1499:Sacs UTSW 14 61,451,153 (GRCm39) missense possibly damaging 0.70
R1538:Sacs UTSW 14 61,447,508 (GRCm39) missense probably damaging 0.98
R1581:Sacs UTSW 14 61,451,128 (GRCm39) missense probably damaging 0.96
R1599:Sacs UTSW 14 61,441,087 (GRCm39) missense probably benign
R1631:Sacs UTSW 14 61,448,181 (GRCm39) nonsense probably null
R1635:Sacs UTSW 14 61,441,277 (GRCm39) missense probably damaging 0.98
R1655:Sacs UTSW 14 61,429,231 (GRCm39) missense probably benign
R1660:Sacs UTSW 14 61,446,458 (GRCm39) missense probably damaging 0.99
R1707:Sacs UTSW 14 61,447,211 (GRCm39) missense probably benign 0.01
R1733:Sacs UTSW 14 61,442,903 (GRCm39) missense probably damaging 1.00
R1772:Sacs UTSW 14 61,448,346 (GRCm39) missense probably damaging 1.00
R1976:Sacs UTSW 14 61,440,344 (GRCm39) missense probably benign
R2055:Sacs UTSW 14 61,451,498 (GRCm39) missense probably damaging 0.97
R2083:Sacs UTSW 14 61,443,955 (GRCm39) missense possibly damaging 0.69
R2091:Sacs UTSW 14 61,429,368 (GRCm39) missense possibly damaging 0.95
R2105:Sacs UTSW 14 61,410,890 (GRCm39) missense possibly damaging 0.90
R2109:Sacs UTSW 14 61,410,902 (GRCm39) splice site probably null
R2117:Sacs UTSW 14 61,451,220 (GRCm39) missense probably benign 0.01
R2122:Sacs UTSW 14 61,449,765 (GRCm39) missense probably damaging 1.00
R2148:Sacs UTSW 14 61,410,827 (GRCm39) missense probably damaging 0.97
R2151:Sacs UTSW 14 61,447,089 (GRCm39) missense probably damaging 1.00
R2231:Sacs UTSW 14 61,443,378 (GRCm39) splice site probably null
R2248:Sacs UTSW 14 61,450,251 (GRCm39) missense probably damaging 1.00
R2271:Sacs UTSW 14 61,442,109 (GRCm39) missense probably benign 0.06
R2314:Sacs UTSW 14 61,445,208 (GRCm39) missense probably benign 0.17
R2436:Sacs UTSW 14 61,440,354 (GRCm39) missense possibly damaging 0.94
R2445:Sacs UTSW 14 61,442,655 (GRCm39) missense probably damaging 1.00
R2512:Sacs UTSW 14 61,440,529 (GRCm39) missense probably benign 0.00
R3434:Sacs UTSW 14 61,449,752 (GRCm39) missense probably damaging 1.00
R3785:Sacs UTSW 14 61,421,410 (GRCm39) missense probably damaging 1.00
R3786:Sacs UTSW 14 61,421,410 (GRCm39) missense probably damaging 1.00
R3796:Sacs UTSW 14 61,443,570 (GRCm39) missense possibly damaging 0.87
R3798:Sacs UTSW 14 61,443,570 (GRCm39) missense possibly damaging 0.87
R3872:Sacs UTSW 14 61,385,517 (GRCm39) missense probably benign 0.30
R3873:Sacs UTSW 14 61,429,735 (GRCm39) missense possibly damaging 0.64
R3892:Sacs UTSW 14 61,441,836 (GRCm39) missense probably damaging 0.98
R4184:Sacs UTSW 14 61,451,393 (GRCm39) missense probably damaging 0.97
R4204:Sacs UTSW 14 61,410,892 (GRCm39) missense possibly damaging 0.93
R4249:Sacs UTSW 14 61,440,906 (GRCm39) missense probably benign 0.02
R4256:Sacs UTSW 14 61,443,786 (GRCm39) missense probably damaging 1.00
R4370:Sacs UTSW 14 61,449,758 (GRCm39) missense probably damaging 1.00
R4445:Sacs UTSW 14 61,442,135 (GRCm39) missense probably benign 0.30
R4503:Sacs UTSW 14 61,445,052 (GRCm39) missense probably damaging 1.00
R4548:Sacs UTSW 14 61,429,387 (GRCm39) missense probably damaging 1.00
R4582:Sacs UTSW 14 61,429,147 (GRCm39) missense probably damaging 1.00
R4613:Sacs UTSW 14 61,449,246 (GRCm39) splice site probably null
R4639:Sacs UTSW 14 61,444,717 (GRCm39) missense probably benign 0.12
R4697:Sacs UTSW 14 61,450,196 (GRCm39) missense probably benign 0.19
R4706:Sacs UTSW 14 61,441,722 (GRCm39) missense probably damaging 1.00
R4717:Sacs UTSW 14 61,450,304 (GRCm39) missense probably damaging 1.00
R4777:Sacs UTSW 14 61,449,258 (GRCm39) missense probably damaging 1.00
R4888:Sacs UTSW 14 61,449,647 (GRCm39) missense probably damaging 1.00
R4913:Sacs UTSW 14 61,451,246 (GRCm39) missense probably benign 0.17
R4973:Sacs UTSW 14 61,450,571 (GRCm39) missense probably damaging 1.00
R4986:Sacs UTSW 14 61,450,492 (GRCm39) nonsense probably null
R5090:Sacs UTSW 14 61,442,702 (GRCm39) missense probably damaging 1.00
R5243:Sacs UTSW 14 61,443,406 (GRCm39) nonsense probably null
R5292:Sacs UTSW 14 61,449,432 (GRCm39) missense probably damaging 1.00
R5308:Sacs UTSW 14 61,429,849 (GRCm39) missense probably benign 0.21
R5337:Sacs UTSW 14 61,430,963 (GRCm39) intron probably benign
R5502:Sacs UTSW 14 61,443,549 (GRCm39) missense probably damaging 1.00
R5586:Sacs UTSW 14 61,443,890 (GRCm39) nonsense probably null
R5692:Sacs UTSW 14 61,445,288 (GRCm39) missense probably benign 0.00
R5725:Sacs UTSW 14 61,448,559 (GRCm39) missense probably damaging 1.00
R5854:Sacs UTSW 14 61,448,996 (GRCm39) missense probably damaging 1.00
R5959:Sacs UTSW 14 61,449,849 (GRCm39) missense probably damaging 0.99
R5960:Sacs UTSW 14 61,446,144 (GRCm39) missense probably benign 0.30
R5968:Sacs UTSW 14 61,427,078 (GRCm39) missense probably damaging 0.99
R5983:Sacs UTSW 14 61,442,648 (GRCm39) missense probably damaging 1.00
R5992:Sacs UTSW 14 61,442,992 (GRCm39) missense probably damaging 1.00
R6076:Sacs UTSW 14 61,441,985 (GRCm39) nonsense probably null
R6175:Sacs UTSW 14 61,450,275 (GRCm39) missense possibly damaging 0.82
R6347:Sacs UTSW 14 61,448,609 (GRCm39) missense probably damaging 1.00
R6357:Sacs UTSW 14 61,446,273 (GRCm39) missense possibly damaging 0.47
R6415:Sacs UTSW 14 61,442,808 (GRCm39) missense probably damaging 1.00
R6469:Sacs UTSW 14 61,428,697 (GRCm39) missense probably damaging 1.00
R6503:Sacs UTSW 14 61,448,810 (GRCm39) missense probably benign 0.00
R6523:Sacs UTSW 14 61,440,410 (GRCm39) missense probably damaging 0.99
R6615:Sacs UTSW 14 61,446,383 (GRCm39) missense probably benign 0.15
R6729:Sacs UTSW 14 61,447,967 (GRCm39) missense probably damaging 1.00
R6731:Sacs UTSW 14 61,418,149 (GRCm39) splice site probably null
R6797:Sacs UTSW 14 61,450,522 (GRCm39) missense probably damaging 1.00
R6852:Sacs UTSW 14 61,416,737 (GRCm39) missense possibly damaging 0.87
R6922:Sacs UTSW 14 61,448,874 (GRCm39) missense probably damaging 1.00
R7023:Sacs UTSW 14 61,446,264 (GRCm39) missense probably benign 0.04
R7051:Sacs UTSW 14 61,446,377 (GRCm39) missense probably benign 0.25
R7069:Sacs UTSW 14 61,449,945 (GRCm39) missense probably damaging 1.00
R7082:Sacs UTSW 14 61,447,966 (GRCm39) missense possibly damaging 0.94
R7108:Sacs UTSW 14 61,448,458 (GRCm39) nonsense probably null
R7122:Sacs UTSW 14 61,447,845 (GRCm39) missense probably damaging 1.00
R7194:Sacs UTSW 14 61,447,538 (GRCm39) missense possibly damaging 0.95
R7214:Sacs UTSW 14 61,429,241 (GRCm39) missense probably benign
R7221:Sacs UTSW 14 61,446,255 (GRCm39) missense probably damaging 0.99
R7274:Sacs UTSW 14 61,451,530 (GRCm39) missense possibly damaging 0.88
R7344:Sacs UTSW 14 61,444,893 (GRCm39) missense possibly damaging 0.81
R7440:Sacs UTSW 14 61,429,054 (GRCm39) missense probably benign 0.10
R7474:Sacs UTSW 14 61,448,627 (GRCm39) missense probably benign 0.04
R7512:Sacs UTSW 14 61,441,879 (GRCm39) missense probably benign 0.04
R7641:Sacs UTSW 14 61,440,320 (GRCm39) missense probably damaging 0.97
R7649:Sacs UTSW 14 61,440,677 (GRCm39) missense possibly damaging 0.53
R7703:Sacs UTSW 14 61,443,539 (GRCm39) missense possibly damaging 0.81
R7792:Sacs UTSW 14 61,447,222 (GRCm39) missense probably benign 0.00
R7805:Sacs UTSW 14 61,441,040 (GRCm39) missense not run
R7822:Sacs UTSW 14 61,429,652 (GRCm39) missense probably benign 0.03
R7882:Sacs UTSW 14 61,444,520 (GRCm39) missense probably benign 0.02
R7932:Sacs UTSW 14 61,442,327 (GRCm39) missense probably damaging 0.99
R8031:Sacs UTSW 14 61,441,640 (GRCm39) missense probably damaging 0.96
R8064:Sacs UTSW 14 61,429,624 (GRCm39) missense possibly damaging 0.92
R8083:Sacs UTSW 14 61,448,166 (GRCm39) missense possibly damaging 0.77
R8204:Sacs UTSW 14 61,450,397 (GRCm39) missense probably damaging 0.96
R8293:Sacs UTSW 14 61,428,548 (GRCm39) missense probably damaging 0.99
R8316:Sacs UTSW 14 61,427,068 (GRCm39) missense possibly damaging 0.84
R8393:Sacs UTSW 14 61,410,655 (GRCm39) start codon destroyed probably null 0.06
R8434:Sacs UTSW 14 61,450,636 (GRCm39) nonsense probably null
R8482:Sacs UTSW 14 61,440,404 (GRCm39) missense probably benign
R8497:Sacs UTSW 14 61,429,702 (GRCm39) missense probably benign 0.00
R8557:Sacs UTSW 14 61,444,725 (GRCm39) missense probably damaging 1.00
R8698:Sacs UTSW 14 61,450,802 (GRCm39) missense probably benign
R8840:Sacs UTSW 14 61,429,177 (GRCm39) missense probably benign 0.25
R8924:Sacs UTSW 14 61,448,702 (GRCm39) missense probably damaging 1.00
R8924:Sacs UTSW 14 61,429,895 (GRCm39) missense probably benign 0.22
R8941:Sacs UTSW 14 61,430,022 (GRCm39) missense probably benign 0.00
R9007:Sacs UTSW 14 61,445,185 (GRCm39) missense probably benign 0.04
R9008:Sacs UTSW 14 61,441,992 (GRCm39) missense probably benign 0.19
R9070:Sacs UTSW 14 61,447,751 (GRCm39) missense probably benign
R9147:Sacs UTSW 14 61,450,137 (GRCm39) missense possibly damaging 0.86
R9185:Sacs UTSW 14 61,444,115 (GRCm39) missense probably damaging 0.98
R9290:Sacs UTSW 14 61,421,499 (GRCm39) missense probably benign 0.17
R9294:Sacs UTSW 14 61,477,768 (GRCm39) missense possibly damaging 0.84
R9339:Sacs UTSW 14 61,443,309 (GRCm39) missense probably benign 0.00
R9341:Sacs UTSW 14 61,446,219 (GRCm39) missense probably benign 0.08
R9343:Sacs UTSW 14 61,446,219 (GRCm39) missense probably benign 0.08
R9370:Sacs UTSW 14 61,441,080 (GRCm39) missense probably damaging 1.00
R9433:Sacs UTSW 14 61,443,997 (GRCm39) missense probably damaging 1.00
R9460:Sacs UTSW 14 61,441,611 (GRCm39) missense probably benign 0.34
R9548:Sacs UTSW 14 61,440,692 (GRCm39) missense probably benign 0.02
R9564:Sacs UTSW 14 61,449,046 (GRCm39) missense probably damaging 1.00
R9644:Sacs UTSW 14 61,443,428 (GRCm39) missense probably benign 0.00
R9683:Sacs UTSW 14 61,450,881 (GRCm39) missense possibly damaging 0.95
R9706:Sacs UTSW 14 61,445,822 (GRCm39) nonsense probably null
X0067:Sacs UTSW 14 61,445,468 (GRCm39) missense probably damaging 1.00
Z1176:Sacs UTSW 14 61,450,649 (GRCm39) missense probably damaging 1.00
Z1176:Sacs UTSW 14 61,448,279 (GRCm39) nonsense probably null
Z1177:Sacs UTSW 14 61,445,430 (GRCm39) missense possibly damaging 0.93
Z1177:Sacs UTSW 14 61,429,000 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- TAGCGATGACACTTAAATCAGCAAC -3'
(R):5'- AGGCCTTGAGAACTTGTACAG -3'

Sequencing Primer
(F):5'- CTGACAATTTGATTTCTGACACGTC -3'
(R):5'- GCCTTGAGAACTTGTACAGATCAAG -3'
Posted On 2019-05-13