Incidental Mutation 'R0138:Sacm1l'
ID 189152
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 038423-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0138 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 9
Chromosomal Location 123358824-123421665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123377982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 87 (H87Q)
Ref Sequence ENSEMBL: ENSMUSP00000026270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026270] [ENSMUST00000217045]
AlphaFold Q9EP69
Predicted Effect probably benign
Transcript: ENSMUST00000026270
AA Change: H87Q

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
AA Change: H87Q

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 benign
Transcript: ENSMUST00000217045
Meta Mutation Damage Score 0.4330 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 97% (76/78)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,899,098 (GRCm39) N693K probably damaging Het
Adgrl3 T A 5: 81,841,454 (GRCm39) V845D probably damaging Het
Anxa8 T A 14: 33,819,896 (GRCm39) F269Y probably benign Het
Anxa8 T A 14: 33,819,897 (GRCm39) F295L possibly damaging Het
Aox4 C G 1: 58,268,025 (GRCm39) L202V probably damaging Het
Ap3s2 A G 7: 79,559,617 (GRCm39) V104A probably benign Het
Aqp3 G A 4: 41,094,843 (GRCm39) probably benign Het
Arhgef26 C T 3: 62,355,680 (GRCm39) H751Y probably benign Het
Asic4 A T 1: 75,446,331 (GRCm39) Q291L possibly damaging Het
Bap1 T C 14: 30,978,681 (GRCm39) Y31H probably damaging Het
Brf1 A T 12: 112,924,759 (GRCm39) V655D probably damaging Het
Cebpz A G 17: 79,238,820 (GRCm39) S663P probably benign Het
Ces2h A G 8: 105,744,693 (GRCm39) D357G probably benign Het
Cfap36 T C 11: 29,194,073 (GRCm39) T90A probably benign Het
Ciita A T 16: 10,330,134 (GRCm39) D803V probably damaging Het
Clnk C A 5: 38,931,951 (GRCm39) probably benign Het
Cyp46a1 A G 12: 108,317,470 (GRCm39) N158S probably damaging Het
Cyp4f13 A G 17: 33,160,080 (GRCm39) I98T possibly damaging Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Dll3 T A 7: 28,000,746 (GRCm39) D103V possibly damaging Het
Dnai1 T A 4: 41,629,814 (GRCm39) M446K possibly damaging Het
Dppa4 A T 16: 48,111,425 (GRCm39) T85S probably benign Het
Eif4g1 A T 16: 20,494,095 (GRCm39) H57L probably damaging Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Fn1 T A 1: 71,663,269 (GRCm39) Q1073L possibly damaging Het
Foxp4 T C 17: 48,180,104 (GRCm39) D599G unknown Het
Frrs1 T C 3: 116,675,456 (GRCm39) V128A possibly damaging Het
Gcfc2 G A 6: 81,926,935 (GRCm39) D608N probably damaging Het
Gm1043 T C 5: 37,350,317 (GRCm39) probably benign Het
Gm5148 T C 3: 37,768,926 (GRCm39) E98G probably benign Het
Gpr141 T C 13: 19,936,428 (GRCm39) I116V probably benign Het
Hic1 T C 11: 75,058,169 (GRCm39) N240S probably damaging Het
Hpx G A 7: 105,241,445 (GRCm39) T322I probably damaging Het
Hs3st4 A T 7: 123,996,416 (GRCm39) M361L probably benign Het
Ifrd1 A G 12: 40,257,129 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Klk1b21 T A 7: 43,755,319 (GRCm39) C173S probably damaging Het
Krt25 A T 11: 99,213,524 (GRCm39) V65E probably benign Het
Lrrc15 A T 16: 30,092,267 (GRCm39) D357E possibly damaging Het
Lrrd1 T A 5: 3,901,345 (GRCm39) V550E probably benign Het
Macf1 A G 4: 123,334,540 (GRCm39) Y1490H probably damaging Het
Macrod1 A G 19: 7,174,281 (GRCm39) probably benign Het
Mcm5 T A 8: 75,847,508 (GRCm39) V435D probably damaging Het
Mctp1 C T 13: 76,975,831 (GRCm39) R478C probably damaging Het
Med10 T C 13: 69,959,817 (GRCm39) probably benign Het
Mrpl4 T C 9: 20,919,888 (GRCm39) Y280H probably benign Het
Msrb3 T C 10: 120,687,892 (GRCm39) E61G probably damaging Het
Myo1c T C 11: 75,551,827 (GRCm39) Y337H possibly damaging Het
Myo7b T A 18: 32,143,204 (GRCm39) T165S probably damaging Het
Myrfl T A 10: 116,685,138 (GRCm39) R81W probably damaging Het
Neil1 T C 9: 57,051,030 (GRCm39) probably benign Het
Neto2 A G 8: 86,367,673 (GRCm39) I357T possibly damaging Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nkx6-3 T C 8: 23,643,607 (GRCm39) S3P probably benign Het
Or52h7 A T 7: 104,214,210 (GRCm39) I261L probably benign Het
Plce1 T C 19: 38,512,863 (GRCm39) I54T possibly damaging Het
Prex2 A T 1: 11,355,267 (GRCm39) probably benign Het
Psapl1 T A 5: 36,361,975 (GRCm39) V189E probably damaging Het
Ptdss2 T G 7: 140,735,232 (GRCm39) probably benign Het
Rnf213 T C 11: 119,307,322 (GRCm39) C661R probably benign Het
Rpap1 T C 2: 119,595,380 (GRCm39) probably null Het
Rrp1b A G 17: 32,279,426 (GRCm39) T696A probably benign Het
Serpinb11 T A 1: 107,305,260 (GRCm39) M212K probably damaging Het
Tbc1d22a C A 15: 86,183,885 (GRCm39) T248K probably damaging Het
Tcerg1 C T 18: 42,701,679 (GRCm39) probably benign Het
Tpst1 T A 5: 130,130,627 (GRCm39) H32Q probably damaging Het
Tsc2 A T 17: 24,818,600 (GRCm39) V1412E possibly damaging Het
Usp19 C A 9: 108,378,514 (GRCm39) P1326Q possibly damaging Het
Vmn1r235 T A 17: 21,482,596 (GRCm39) M307K probably damaging Het
Vmn2r58 T A 7: 41,487,048 (GRCm39) T616S probably damaging Het
Vps13a G A 19: 16,637,863 (GRCm39) T2406I possibly damaging Het
Zbtb26 T A 2: 37,326,053 (GRCm39) M328L probably benign Het
Zp2 A G 7: 119,736,423 (GRCm39) F340S 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
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
R8205:Sacm1l UTSW 9 123,415,724 (GRCm39) splice site probably null
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'- CTCTCTACTCTCACCAGCTAAGCTCAA -3'
(R):5'- tctccggtcccTTAAAGAGTATCTCCA -3'

Sequencing Primer
(F):5'- ttttgtgatatgctagggctcaaac -3'
(R):5'- GTGGCATTTTTGAGCCTTGC -3'
Posted On 2014-05-13