Incidental Mutation 'R1159:Sacm1l'
ID101975
Institutional Source Beutler Lab
Gene Symbol Sacm1l
Ensembl Gene ENSMUSG00000025240
Gene NameSAC1 suppressor of actin mutations 1-like (yeast)
SynonymsSAC1, Sac1p
MMRRC Submission 039232-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1159 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location123529759-123592600 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123566411 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 200 (S200P)
Ref Sequence ENSEMBL: ENSMUSP00000026270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026270]
Predicted Effect probably benign
Transcript: ENSMUST00000026270
AA Change: S200P

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
AA Change: S200P

DomainStartEndE-ValueType
Pfam:Syja_N 58 346 4.7e-88 PFAM
low complexity region 400 415 N/A INTRINSIC
Blast:IPPc 416 500 3e-12 BLAST
transmembrane domain 521 543 N/A INTRINSIC
transmembrane domain 550 569 N/A INTRINSIC
Meta Mutation Damage Score 0.0792 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that is localized to the endoplasmic reticulum and golgi, and functions as a phosphoinositide lipid phosphatase. Studies in mammals suggest that this gene is involved in the organization of golgi membranes and the mitotic spindles. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,115,138 H164Y probably damaging Het
Acss2 T C 2: 155,551,218 I288T probably benign Het
Akap9 C T 5: 3,960,865 R541C probably damaging Het
Ano5 T C 7: 51,579,474 probably benign Het
Anp32b T C 4: 46,471,478 probably benign Het
Avil T C 10: 127,011,790 V528A possibly damaging Het
B020004J07Rik T C 4: 101,838,027 E29G possibly damaging Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Cdk10 T C 8: 123,228,323 probably benign Het
Cfap65 A T 1: 74,929,340 F111Y probably damaging Het
Cryge A G 1: 65,050,808 F72L probably benign Het
Ercc3 C T 18: 32,264,558 T614I possibly damaging Het
Fgd5 T C 6: 91,988,502 I572T probably benign Het
Fubp1 A G 3: 152,215,592 D88G possibly damaging Het
Gcnt1 C A 19: 17,329,804 V186F possibly damaging Het
Gldc A T 19: 30,160,762 probably benign Het
Gxylt2 A G 6: 100,804,641 M426V possibly damaging Het
Hps5 A T 7: 46,772,554 probably null Het
Igf2bp2 G A 16: 22,061,853 probably benign Het
Lamb2 T C 9: 108,481,408 S215P probably damaging Het
Mfsd13b T C 7: 121,014,543 M421T probably damaging Het
Mtif2 C A 11: 29,540,729 R478S possibly damaging Het
Nadk2 G A 15: 9,106,837 R351H possibly damaging Het
Nt5dc1 T C 10: 34,398,173 D167G possibly damaging Het
Nup98 T A 7: 102,160,716 T536S probably damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Ppig T A 2: 69,750,224 S701T unknown Het
Ptprc A G 1: 138,072,319 S830P probably damaging Het
Rev3l T A 10: 39,851,925 L2690* probably null Het
Rgs22 A T 15: 36,040,693 S883T probably damaging Het
Rxfp4 A G 3: 88,652,587 W186R probably damaging Het
Serpinb6d T A 13: 33,671,229 D295E probably damaging Het
Slc38a10 A G 11: 120,105,475 V932A probably benign Het
Top2b T C 14: 16,430,329 S1568P possibly damaging Het
Tox T G 4: 6,697,600 N401T probably benign Het
Trim24 T C 6: 37,956,477 probably null Het
Unc79 T G 12: 103,047,052 probably benign Het
Vmn2r66 A T 7: 84,995,405 I599N probably benign Het
Zfa-ps T A 10: 52,543,558 noncoding transcript Het
Other mutations in Sacm1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Sacm1l APN 9 123570549 missense possibly damaging 0.88
IGL02598:Sacm1l APN 9 123578996 missense probably benign 0.03
IGL02796:Sacm1l UTSW 9 123548924 missense possibly damaging 0.66
R0138:Sacm1l UTSW 9 123548917 missense probably benign 0.15
R0628:Sacm1l UTSW 9 123548995 splice site probably benign
R0847:Sacm1l UTSW 9 123548862 missense probably damaging 1.00
R1102:Sacm1l UTSW 9 123582298 missense probably damaging 0.98
R2898:Sacm1l UTSW 9 123560601 critical splice donor site probably null
R3001:Sacm1l UTSW 9 123585084 splice site probably benign
R3780:Sacm1l UTSW 9 123552790 missense probably benign 0.00
R3852:Sacm1l UTSW 9 123587576 missense probably damaging 1.00
R4731:Sacm1l UTSW 9 123590830 missense probably benign 0.03
R4732:Sacm1l UTSW 9 123590830 missense probably benign 0.03
R4733:Sacm1l UTSW 9 123590830 missense probably benign 0.03
R4894:Sacm1l UTSW 9 123582344 missense probably benign 0.17
R5021:Sacm1l UTSW 9 123582328 missense probably damaging 1.00
R5033:Sacm1l UTSW 9 123586399 missense probably damaging 1.00
R5075:Sacm1l UTSW 9 123582262 missense probably benign 0.00
R5135:Sacm1l UTSW 9 123577025 missense probably benign 0.00
R5284:Sacm1l UTSW 9 123586420 missense probably damaging 0.99
R5514:Sacm1l UTSW 9 123586354 nonsense probably null
R5629:Sacm1l UTSW 9 123566399 missense probably benign
R6137:Sacm1l UTSW 9 123569005 missense probably damaging 1.00
R6266:Sacm1l UTSW 9 123542420 missense probably damaging 1.00
R7079:Sacm1l UTSW 9 123569997 missense probably damaging 1.00
R7147:Sacm1l UTSW 9 123568951 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15