Incidental Mutation 'R8205:Sacm1l'
ID 656453
Institutional Source Beutler Lab
Gene Symbol Sacm1l
Ensembl Gene ENSMUSG00000025240
Gene Name SAC1 suppressor of actin mutations 1-like (yeast)
Synonyms SAC1, Sac1p
MMRRC Submission 067628-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8205 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 123358824-123421665 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 123415724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026270] [ENSMUST00000026270]
AlphaFold Q9EP69
Predicted Effect probably null
Transcript: ENSMUST00000026270
SMART Domains Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240

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
Predicted Effect probably null
Transcript: ENSMUST00000026270
SMART Domains Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (52/52)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,278,080 (GRCm39) V157A probably benign Het
Adamtsl1 A G 4: 86,117,650 (GRCm39) *204W probably null Het
Add2 A G 6: 86,063,899 (GRCm39) E66G probably damaging Het
Adgrd1 A G 5: 129,192,175 (GRCm39) T114A possibly damaging Het
Aldh7a1 A T 18: 56,678,070 (GRCm39) I247N probably damaging Het
Ankrd13d A T 19: 4,331,009 (GRCm39) M166K probably damaging Het
Brd7 A G 8: 89,070,243 (GRCm39) F388L probably damaging Het
Cap2 G A 13: 46,768,739 (GRCm39) V182M probably damaging Het
Col22a1 A T 15: 71,732,918 (GRCm39) V1100E unknown Het
Cracdl T C 1: 37,664,047 (GRCm39) D617G probably benign Het
Crisp2 T C 17: 41,095,969 (GRCm39) E63G possibly damaging Het
Dst T G 1: 34,253,685 (GRCm39) W2304G probably damaging Het
Eif2a A C 3: 58,456,156 (GRCm39) N385T probably damaging Het
Eif4ebp2 A T 10: 61,270,704 (GRCm39) H108Q probably benign Het
Fgd3 T C 13: 49,449,823 (GRCm39) D142G probably benign Het
Gbp8 T A 5: 105,198,846 (GRCm39) H23L probably benign Het
Glt1d1 A G 5: 127,768,080 (GRCm39) E229G probably benign Het
Gpatch8 T C 11: 102,371,213 (GRCm39) D775G unknown Het
Heatr1 T C 13: 12,430,928 (GRCm39) Y1008H probably benign Het
Heatr5a T A 12: 52,005,792 (GRCm39) N61I probably benign Het
Hydin A T 8: 111,319,270 (GRCm39) H4391L possibly damaging Het
Ifi206 T C 1: 173,309,450 (GRCm39) E182G Het
Mbtps1 A G 8: 120,247,077 (GRCm39) S789P probably damaging Het
Mex3a T C 3: 88,444,159 (GRCm39) S412P possibly damaging Het
Msantd5f1 G A 4: 73,605,542 (GRCm39) V318I possibly damaging Het
Mup2 T A 4: 60,137,659 (GRCm39) D128V probably benign Het
Ndufaf7 G A 17: 79,254,461 (GRCm39) C418Y probably benign Het
Nlrp4a A G 7: 26,150,219 (GRCm39) S609G probably benign Het
Obscn T A 11: 58,898,697 (GRCm39) Y6554F unknown Het
Odf2l A G 3: 144,856,495 (GRCm39) probably benign Het
Or14j2 A T 17: 37,885,892 (GRCm39) C141S probably damaging Het
Or1o11 T C 17: 37,757,180 (GRCm39) V245A probably damaging Het
Or4c104 A T 2: 88,587,016 (GRCm39) M1K probably null Het
Plod2 G T 9: 92,424,371 (GRCm39) probably benign Het
Ptgfr A G 3: 151,541,418 (GRCm39) V30A probably benign Het
Pxdn T G 12: 30,056,566 (GRCm39) L1259R probably damaging Het
Rnf6 A G 5: 146,147,714 (GRCm39) S435P probably damaging Het
Scgb2b26 T C 7: 33,643,833 (GRCm39) T36A probably benign Het
Slc1a7 A G 4: 107,865,508 (GRCm39) N332S probably benign Het
Slfn5 T C 11: 82,851,544 (GRCm39) F614L probably benign Het
Smad7 C A 18: 75,527,119 (GRCm39) Q322K probably damaging Het
Smap1 T C 1: 23,888,507 (GRCm39) T253A probably benign Het
Socs5 G T 17: 87,441,138 (GRCm39) R26L probably benign Het
Steap4 A T 5: 8,026,795 (GRCm39) I253F possibly damaging Het
Tacc1 G A 8: 25,672,803 (GRCm39) H142Y probably benign Het
Tent5c A G 3: 100,380,138 (GRCm39) F206S probably benign Het
Tmem117 G A 15: 94,992,679 (GRCm39) M446I probably benign Het
Trav7-6 G A 14: 53,954,550 (GRCm39) D47N probably benign Het
Trim2 C A 3: 84,100,646 (GRCm39) A162S probably damaging Het
Ttc28 A G 5: 111,373,596 (GRCm39) I1011V possibly damaging Het
Vmn2r98 T C 17: 19,301,425 (GRCm39) V809A probably damaging Het
Wfikkn1 T A 17: 26,097,071 (GRCm39) T418S probably benign Het
Zbtb41 T A 1: 139,356,919 (GRCm39) D391E possibly damaging Het
Zfp109 G A 7: 23,928,635 (GRCm39) S266F probably damaging Het
Other mutations in Sacm1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Sacm1l APN 9 123,399,614 (GRCm39) missense possibly damaging 0.88
IGL02598:Sacm1l APN 9 123,408,061 (GRCm39) missense probably benign 0.03
IGL02796:Sacm1l UTSW 9 123,377,989 (GRCm39) missense possibly damaging 0.66
R0138:Sacm1l UTSW 9 123,377,982 (GRCm39) missense probably benign 0.15
R0628:Sacm1l UTSW 9 123,378,060 (GRCm39) splice site probably benign
R0847:Sacm1l UTSW 9 123,377,927 (GRCm39) missense probably damaging 1.00
R1102:Sacm1l UTSW 9 123,411,363 (GRCm39) missense probably damaging 0.98
R1159:Sacm1l UTSW 9 123,395,476 (GRCm39) missense probably benign 0.06
R2898:Sacm1l UTSW 9 123,389,666 (GRCm39) critical splice donor site probably null
R3001:Sacm1l UTSW 9 123,414,149 (GRCm39) splice site probably benign
R3780:Sacm1l UTSW 9 123,381,855 (GRCm39) missense probably benign 0.00
R3852:Sacm1l UTSW 9 123,416,641 (GRCm39) missense probably damaging 1.00
R4731:Sacm1l UTSW 9 123,419,895 (GRCm39) missense probably benign 0.03
R4732:Sacm1l UTSW 9 123,419,895 (GRCm39) missense probably benign 0.03
R4733:Sacm1l UTSW 9 123,419,895 (GRCm39) missense probably benign 0.03
R4894:Sacm1l UTSW 9 123,411,409 (GRCm39) missense probably benign 0.17
R5021:Sacm1l UTSW 9 123,411,393 (GRCm39) missense probably damaging 1.00
R5033:Sacm1l UTSW 9 123,415,464 (GRCm39) missense probably damaging 1.00
R5075:Sacm1l UTSW 9 123,411,327 (GRCm39) missense probably benign 0.00
R5135:Sacm1l UTSW 9 123,406,090 (GRCm39) missense probably benign 0.00
R5284:Sacm1l UTSW 9 123,415,485 (GRCm39) missense probably damaging 0.99
R5514:Sacm1l UTSW 9 123,415,419 (GRCm39) nonsense probably null
R5629:Sacm1l UTSW 9 123,395,464 (GRCm39) missense probably benign
R6137:Sacm1l UTSW 9 123,398,070 (GRCm39) missense probably damaging 1.00
R6266:Sacm1l UTSW 9 123,371,485 (GRCm39) missense probably damaging 1.00
R7079:Sacm1l UTSW 9 123,399,062 (GRCm39) missense probably damaging 1.00
R7147:Sacm1l UTSW 9 123,398,016 (GRCm39) missense probably damaging 1.00
R8323:Sacm1l UTSW 9 123,377,987 (GRCm39) missense probably benign 0.22
R8544:Sacm1l UTSW 9 123,406,123 (GRCm39) critical splice donor site probably null
R8801:Sacm1l UTSW 9 123,411,384 (GRCm39) missense probably damaging 1.00
R9131:Sacm1l UTSW 9 123,381,827 (GRCm39) nonsense probably null
R9165:Sacm1l UTSW 9 123,398,021 (GRCm39) missense probably damaging 1.00
R9732:Sacm1l UTSW 9 123,381,863 (GRCm39) missense probably benign 0.00
Z1177:Sacm1l UTSW 9 123,406,093 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- GGATGGCTTCAACTCATTATTACGG -3'
(R):5'- ACTCTAGTCTTCTCTTGAGGAAGG -3'

Sequencing Primer
(F):5'- TGCCTGCCATTGAATAATTATCTC -3'
(R):5'- ATGGTGGCTCACAACCATCTG -3'
Posted On 2020-11-18