Incidental Mutation 'R3852:Sacm1l'
ID 275980
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 040784-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3852 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 123358824-123421665 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 123416641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 534 (M534K)
Ref Sequence ENSEMBL: ENSMUSP00000026270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026270] [ENSMUST00000026273]
AlphaFold Q9EP69
Predicted Effect probably damaging
Transcript: ENSMUST00000026270
AA Change: M534K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026270
Gene: ENSMUSG00000025240
AA Change: M534K

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: ENSMUST00000026273
SMART Domains Protein: ENSMUSP00000026273
Gene: ENSMUSG00000025243

DomainStartEndE-ValueType
low complexity region 19 33 N/A INTRINSIC
Pfam:SNF 48 624 5.4e-173 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217089
Meta Mutation Damage Score 0.9484 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 96% (45/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,379,189 (GRCm39) V685A probably damaging Het
Abhd4 T C 14: 54,502,824 (GRCm39) Y44H probably damaging Het
AI429214 A G 8: 37,461,596 (GRCm39) D248G probably damaging Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
AY358078 A G 14: 52,043,010 (GRCm39) T233A unknown Het
Calcr T C 6: 3,693,735 (GRCm39) Y353C probably damaging Het
Ccdc34 A G 2: 109,862,773 (GRCm39) K193E possibly damaging Het
Dhcr24 A G 4: 106,431,070 (GRCm39) E253G probably benign Het
Dnah6 A G 6: 73,104,910 (GRCm39) V1841A possibly damaging Het
Dpp10 A T 1: 123,413,653 (GRCm39) Y186* probably null Het
Dpysl4 C T 7: 138,680,851 (GRCm39) T575M probably damaging Het
Dusp7 T A 9: 106,251,092 (GRCm39) S406T probably benign Het
Gga3 T A 11: 115,478,368 (GRCm39) T475S probably benign Het
Gm10271 T A 10: 116,792,779 (GRCm39) K36* probably null Het
Gm572 G A 4: 148,753,329 (GRCm39) E325K possibly damaging Het
Golga2 A G 2: 32,195,623 (GRCm39) E806G probably benign Het
Igf1 A T 10: 87,751,181 (GRCm39) K126* probably null Het
Itpkc A T 7: 26,927,037 (GRCm39) N292K probably benign Het
Klhl1 A T 14: 96,517,641 (GRCm39) M345K probably benign Het
Lrp2 A G 2: 69,367,909 (GRCm39) V201A probably damaging Het
Lrrc8a C T 2: 30,151,972 (GRCm39) T757M probably benign Het
Mios T A 6: 8,216,453 (GRCm39) I459K probably benign Het
Mrps11 T C 7: 78,440,393 (GRCm39) I94T probably damaging Het
Ms4a4c T A 19: 11,393,759 (GRCm39) S68T probably benign Het
Mstn C T 1: 53,101,130 (GRCm39) T69I possibly damaging Het
Myo10 A G 15: 25,779,712 (GRCm39) K28E probably damaging Het
Nol6 A G 4: 41,117,452 (GRCm39) S914P probably damaging Het
Ntn1 C G 11: 68,276,619 (GRCm39) D110H probably damaging Het
Or51f1e T C 7: 102,747,391 (GRCm39) S148P probably damaging Het
Or52b4 C A 7: 102,184,487 (GRCm39) H178N probably benign Het
Pcdh17 C T 14: 84,684,699 (GRCm39) Q389* probably null Het
Pik3r2 G A 8: 71,223,065 (GRCm39) R452C probably benign Het
Prr14l T C 5: 32,987,689 (GRCm39) E602G probably damaging Het
Rusc2 C A 4: 43,416,424 (GRCm39) Q577K probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slco4a1 C T 2: 180,105,884 (GRCm39) T22M probably benign Het
Tas2r104 A T 6: 131,661,888 (GRCm39) C274S probably benign Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Trim43c T A 9: 88,722,454 (GRCm39) H33Q probably damaging Het
Ttc17 A T 2: 94,199,758 (GRCm39) I411K possibly damaging Het
Ttn G T 2: 76,581,678 (GRCm39) L23072I possibly damaging Het
Ttn A C 2: 76,785,368 (GRCm39) V669G possibly damaging Het
Vmn1r60 A T 7: 5,548,026 (GRCm39) F25I possibly damaging Het
Vmn2r9 A G 5: 108,995,997 (GRCm39) I217T 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
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'- GTCACTGTGATTGAAGCCATAATAG -3'
(R):5'- GTGCTGAGTGTACGTAAGACTC -3'

Sequencing Primer
(F):5'- ATTGAAGCCATAATAGTGTGTTTGG -3'
(R):5'- TTAATCACAGCACTTGGGGGC -3'
Posted On 2015-04-06