Incidental Mutation 'R8204:Sacs'
ID 635832
Institutional Source Beutler Lab
Gene Symbol Sacs
Ensembl Gene ENSMUSG00000048279
Gene Name sacsin
Synonyms E130115J16Rik
MMRRC Submission 067627-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8204 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 61375906-61478144 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61450397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 4148 (S4148P)
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: S4148P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113377
Gene: ENSMUSG00000048279
AA Change: S4148P

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: 99.9%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (51/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,057,606 (GRCm39) R731H probably benign Het
Arpp21 T A 9: 111,965,638 (GRCm39) Y408F noncoding transcript Het
Atr T C 9: 95,817,566 (GRCm39) S2086P Het
BC034090 C A 1: 155,117,488 (GRCm39) G210V probably damaging Het
Cdk6 A G 5: 3,394,461 (GRCm39) D32G probably damaging Het
Cep126 C T 9: 8,120,781 (GRCm39) E81K probably damaging Het
Cep20 T C 16: 14,118,070 (GRCm39) D150G probably benign Het
Clec4d T A 6: 123,242,323 (GRCm39) V25D probably damaging Het
Cox8a A G 19: 7,192,845 (GRCm39) I40T probably benign Het
Dlg5 A G 14: 24,210,320 (GRCm39) L792P probably damaging Het
Egln3 T C 12: 54,250,010 (GRCm39) Y113C probably benign Het
Exoc6b C T 6: 84,832,504 (GRCm39) V397M probably damaging Het
Fat2 A T 11: 55,175,436 (GRCm39) L1759Q probably benign Het
Flg2 T A 3: 93,110,074 (GRCm39) S701T unknown Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Git1 G A 11: 77,396,161 (GRCm39) D551N probably benign Het
Gpr137 C T 19: 6,917,746 (GRCm39) A21T probably benign Het
Grk3 A G 5: 113,105,225 (GRCm39) F171L probably benign Het
Hk1 A G 10: 62,132,523 (GRCm39) F175S probably damaging Het
Hoxc13 A G 15: 102,835,795 (GRCm39) N308D probably damaging Het
Itga9 A G 9: 118,700,989 (GRCm39) N924S probably damaging Het
Katnip C T 7: 125,449,914 (GRCm39) R993C probably damaging Het
Klhl20 T C 1: 160,934,414 (GRCm39) M202V probably benign Het
Krtap19-9a C T 16: 88,720,996 (GRCm39) G37D noncoding transcript Het
Lancl2 C A 6: 57,714,701 (GRCm39) P440Q probably damaging Het
Lrba T C 3: 86,222,710 (GRCm39) I608T possibly damaging Het
Lrtm2 T A 6: 119,294,369 (GRCm39) E254V probably benign Het
Magi3 A T 3: 103,958,502 (GRCm39) C528S probably benign Het
Mast3 T C 8: 71,240,925 (GRCm39) D224G probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Myrip G A 9: 120,262,045 (GRCm39) probably null Het
Or4f54 A G 2: 111,123,485 (GRCm39) R291G probably damaging Het
Or5af2 A C 11: 58,707,885 (GRCm39) D17A probably benign Het
Plekhg6 C T 6: 125,340,461 (GRCm39) R633H probably damaging Het
Ppp1r7 T C 1: 93,292,733 (GRCm39) V344A possibly damaging Het
Ppp2r1a A G 17: 21,177,035 (GRCm39) E191G probably benign Het
Prkag2 T C 5: 25,074,125 (GRCm39) probably null Het
Pyroxd2 A T 19: 42,737,827 (GRCm39) V48E probably benign Het
Sh3tc2 T C 18: 62,086,200 (GRCm39) F5S probably damaging Het
Skint8 T C 4: 111,796,090 (GRCm39) S255P probably benign Het
Tacc2 A T 7: 130,226,159 (GRCm39) Q948L probably damaging Het
Tcerg1 T A 18: 42,707,618 (GRCm39) L1046Q probably damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tfcp2 G T 15: 100,420,329 (GRCm39) Q169K possibly damaging Het
Tpp1 A T 7: 105,399,522 (GRCm39) L82Q probably damaging Het
Trpc7 A G 13: 56,931,609 (GRCm39) S697P probably benign Het
Vmn1r55 A T 7: 5,150,285 (GRCm39) I46N possibly damaging Het
Wdfy3 A G 5: 102,000,451 (GRCm39) V2973A probably benign Het
Xrcc1 T C 7: 24,271,709 (GRCm39) V564A possibly damaging 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
R7047:Sacs UTSW 14 61,450,451 (GRCm39) missense probably damaging 1.00
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
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'- CCCATAGCAGGAGTGAAACTTTC -3'
(R):5'- ATGTTGGCTGGTATGACCC -3'

Sequencing Primer
(F):5'- AGCGATTTGGCAATGCAGTCATC -3'
(R):5'- GGCTGGTATGACCCATAGATATCAC -3'
Posted On 2020-07-13