Incidental Mutation 'R1102:Sacm1l'
ID 98185
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 039175-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1102 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 123358824-123421665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 123411363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 384 (V384G)
Ref Sequence ENSEMBL: ENSMUSP00000026270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026270]
AlphaFold Q9EP69
Predicted Effect probably damaging
Transcript: ENSMUST00000026270
AA Change: V384G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
AA Change: V384G

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 noncoding transcript
Transcript: ENSMUST00000215004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217089
Meta Mutation Damage Score 0.9432 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (60/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,211,460 (GRCm39) T203M probably damaging Het
Acy3 C T 19: 4,037,850 (GRCm39) T119I probably damaging Het
Ccdc6 C A 10: 70,023,636 (GRCm39) H400Q possibly damaging Het
Ccna1 T C 3: 54,958,281 (GRCm39) D134G probably damaging Het
Cct2 A T 10: 116,896,545 (GRCm39) probably null Het
Cd36 A G 5: 18,019,211 (GRCm39) F170S possibly damaging Het
Cep350 G A 1: 155,807,264 (GRCm39) P718S probably damaging Het
Cimip1 T A 2: 173,364,516 (GRCm39) D20E probably damaging Het
Ctnna3 A T 10: 64,421,774 (GRCm39) I523L probably benign Het
Dnah1 G T 14: 31,018,414 (GRCm39) Y1405* probably null Het
Dnah8 T A 17: 31,073,738 (GRCm39) probably null Het
Drd3 T C 16: 43,582,846 (GRCm39) L113S probably damaging Het
Emsy T C 7: 98,251,796 (GRCm39) T735A probably damaging Het
Epha5 A G 5: 84,381,434 (GRCm39) probably benign Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fbxo10 A G 4: 45,043,672 (GRCm39) L717P probably damaging Het
Galnt10 T C 11: 57,671,871 (GRCm39) probably benign Het
Gle1 T G 2: 29,834,066 (GRCm39) I437M possibly damaging Het
Gpr137b T C 13: 13,539,616 (GRCm39) probably benign Het
Gsta1 T C 9: 78,149,777 (GRCm39) F197L probably damaging Het
Icam1 G A 9: 20,939,132 (GRCm39) V502M possibly damaging Het
Ido1 T A 8: 25,083,156 (GRCm39) I90F probably damaging Het
Il4ra G A 7: 125,173,889 (GRCm39) probably null Het
Med12l T A 3: 59,152,257 (GRCm39) M1014K probably damaging Het
Mmp13 A G 9: 7,272,952 (GRCm39) E104G possibly damaging Het
Mms19 T C 19: 41,939,284 (GRCm39) E495G possibly damaging Het
Mrc2 A G 11: 105,231,647 (GRCm39) I820V probably benign Het
Naip6 T C 13: 100,440,923 (GRCm39) K286E possibly damaging Het
Ndrg1 T C 15: 66,816,685 (GRCm39) Y110C probably damaging Het
Or1e1c G A 11: 73,265,700 (GRCm39) V45I probably benign Het
Or4a78 A T 2: 89,497,814 (GRCm39) C139S probably damaging Het
Or5b118 T C 19: 13,448,771 (GRCm39) C146R probably damaging Het
Or5b3 G A 19: 13,388,454 (GRCm39) V174M probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pnpla7 G T 2: 24,886,177 (GRCm39) M3I probably damaging Het
Popdc3 A G 10: 45,192,642 (GRCm39) probably benign Het
Ppp5c A G 7: 16,756,368 (GRCm39) F112S probably benign Het
Rbp3 A G 14: 33,678,313 (GRCm39) T754A possibly damaging Het
Reep6 A G 10: 80,171,080 (GRCm39) T319A probably benign Het
Rfx3 A G 19: 27,845,000 (GRCm39) V43A possibly damaging Het
Rint1 A G 5: 24,010,565 (GRCm39) probably benign Het
Shox2 A T 3: 66,885,628 (GRCm39) L149Q probably damaging Het
Sipa1 T C 19: 5,702,782 (GRCm39) H805R probably benign Het
Skic2 T C 17: 35,059,082 (GRCm39) D1095G probably benign Het
Slc5a3 G T 16: 91,874,765 (GRCm39) W274L probably damaging Het
Spata31e4 A G 13: 50,857,118 (GRCm39) T919A probably benign Het
Sptbn1 G T 11: 30,070,785 (GRCm39) H1524Q possibly damaging Het
Ssr1 G T 13: 38,171,591 (GRCm39) Q149K probably benign Het
Taf7l2 T C 10: 115,949,299 (GRCm39) S76G probably damaging Het
Thsd7a T C 6: 12,555,701 (GRCm39) D61G possibly damaging Het
Tmem245 T C 4: 56,903,200 (GRCm39) probably benign Het
Tmem74 T C 15: 43,730,186 (GRCm39) T286A probably benign Het
Tnc T C 4: 63,938,705 (GRCm39) N45D probably benign Het
Trdmt1 T G 2: 13,528,225 (GRCm39) probably benign Het
Uty A T Y: 1,174,741 (GRCm39) Y220N probably damaging Het
Vdr T C 15: 97,757,002 (GRCm39) Y290C probably damaging Het
Vmn2r19 T A 6: 123,313,132 (GRCm39) M734K probably benign Het
Vmn2r53 T C 7: 12,332,410 (GRCm39) D413G possibly damaging Het
Vps45 A G 3: 95,950,253 (GRCm39) probably benign 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
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'- GTTTCCATAGCAGTAGGCCCCTTC -3'
(R):5'- GGTGCAGTGAAAACTACAAATGTGCTC -3'

Sequencing Primer
(F):5'- AAGGGGCTATTGCCTCAAC -3'
(R):5'- GGATAACTTGTACACCAATGGC -3'
Posted On 2014-01-05