Incidental Mutation 'R0589:Maco1'
ID 55865
Institutional Source Beutler Lab
Gene Symbol Maco1
Ensembl Gene ENSMUSG00000028826
Gene Name macoilin 1
Synonyms Tmem57, 9230118A01Rik, 1110007C24Rik, C61
MMRRC Submission 038779-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.637) question?
Stock # R0589 (G1)
Quality Score 198
Status Validated
Chromosome 4
Chromosomal Location 134530070-134580656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 134555528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 315 (C315F)
Ref Sequence ENSEMBL: ENSMUSP00000030628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030628] [ENSMUST00000137707] [ENSMUST00000148595]
AlphaFold Q7TQE6
Predicted Effect probably benign
Transcript: ENSMUST00000030628
AA Change: C315F

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030628
Gene: ENSMUSG00000028826
AA Change: C315F

DomainStartEndE-ValueType
Pfam:Macoilin 2 662 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137707
SMART Domains Protein: ENSMUSP00000124477
Gene: ENSMUSG00000028826

DomainStartEndE-ValueType
Pfam:Macoilin 2 157 2.1e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148595
SMART Domains Protein: ENSMUSP00000125440
Gene: ENSMUSG00000028826

DomainStartEndE-ValueType
Pfam:Macoilin 2 78 7e-48 PFAM
Meta Mutation Damage Score 0.0663 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.1%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,833,094 (GRCm39) A1202E probably damaging Het
Abcc12 A T 8: 87,287,101 (GRCm39) I155N possibly damaging Het
Atf4 T A 15: 80,140,640 (GRCm39) H47Q probably damaging Het
Atm T A 9: 53,401,492 (GRCm39) D1459V possibly damaging Het
Bicral A G 17: 47,112,522 (GRCm39) S893P probably benign Het
Camk2a G A 18: 61,097,036 (GRCm39) probably null Het
Cebpz G A 17: 79,244,308 (GRCm39) T51I probably damaging Het
Cers5 A T 15: 99,638,837 (GRCm39) D208E probably damaging Het
Cimip2b T C 4: 43,427,355 (GRCm39) probably benign Het
Cyp1a2 T C 9: 57,586,345 (GRCm39) D391G possibly damaging Het
Dct G T 14: 118,280,682 (GRCm39) F111L probably benign Het
Ddb1 T G 19: 10,599,080 (GRCm39) I529S probably benign Het
Dhx9 G T 1: 153,348,037 (GRCm39) Q361K probably damaging Het
Dnai3 A G 3: 145,768,086 (GRCm39) S592P probably benign Het
Erbin G T 13: 104,022,795 (GRCm39) R15S probably damaging Het
F13b T C 1: 139,434,671 (GRCm39) S146P possibly damaging Het
Ggnbp2 A T 11: 84,727,277 (GRCm39) C520S probably damaging Het
Gpx3 A G 11: 54,800,329 (GRCm39) I208V probably benign Het
Grk3 A G 5: 113,076,629 (GRCm39) probably benign Het
Heatr9 T C 11: 83,405,516 (GRCm39) probably benign Het
Heg1 T G 16: 33,552,077 (GRCm39) I762R probably damaging Het
Ints11 A T 4: 155,971,343 (GRCm39) T264S probably damaging Het
Ints14 T C 9: 64,887,113 (GRCm39) L348P probably damaging Het
Marf1 C A 16: 13,959,919 (GRCm39) probably benign Het
Med13 A G 11: 86,174,075 (GRCm39) Y1808H probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Mrpl45 A T 11: 97,214,714 (GRCm39) T134S probably benign Het
Myh8 A G 11: 67,189,453 (GRCm39) I1210V probably benign Het
Nsd3 T C 8: 26,131,303 (GRCm39) S223P probably damaging Het
Or2j6 T G 7: 139,980,813 (GRCm39) S49R possibly damaging Het
Or4c115 A G 2: 88,927,606 (GRCm39) F222L probably benign Het
Or5be3 A T 2: 86,864,459 (GRCm39) Y35* probably null Het
P3h3 T A 6: 124,818,644 (GRCm39) E731D probably damaging Het
Pcdhac2 A G 18: 37,279,527 (GRCm39) R836G probably benign Het
Pdzd2 A G 15: 12,376,385 (GRCm39) V1250A probably benign Het
Pgbd1 G A 13: 21,618,600 (GRCm39) T19I possibly damaging Het
Phtf2 T A 5: 21,018,249 (GRCm39) R31* probably null Het
Plod2 T A 9: 92,475,799 (GRCm39) V294D probably benign Het
Rassf5 C T 1: 131,172,720 (GRCm39) G50R probably damaging Het
Rexo5 A G 7: 119,444,606 (GRCm39) T694A probably benign Het
Rtcb A C 10: 85,787,315 (GRCm39) S82A probably damaging Het
Rufy4 T C 1: 74,172,042 (GRCm39) L255P probably damaging Het
Slc35c1 A G 2: 92,284,859 (GRCm39) F252L probably damaging Het
Slco6d1 A T 1: 98,427,472 (GRCm39) probably benign Het
Sox10 T G 15: 79,047,485 (GRCm39) probably benign Het
Stard9 A G 2: 120,529,028 (GRCm39) M1762V probably benign Het
Stat3 A T 11: 100,798,909 (GRCm39) Y94N probably damaging Het
Tasor T C 14: 27,183,107 (GRCm39) I522T probably benign Het
Tecta T A 9: 42,256,930 (GRCm39) Y1582F probably benign Het
Tex44 A G 1: 86,355,453 (GRCm39) D454G probably damaging Het
Tle6 A G 10: 81,431,253 (GRCm39) probably benign Het
Tmod2 T C 9: 75,484,041 (GRCm39) E303G probably damaging Het
Trem1 A G 17: 48,544,245 (GRCm39) D90G possibly damaging Het
Trhde A T 10: 114,284,229 (GRCm39) D751E probably benign Het
Ttn A T 2: 76,795,589 (GRCm39) probably null Het
Vars2 T C 17: 35,970,068 (GRCm39) T774A probably benign Het
Other mutations in Maco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Maco1 APN 4 134,555,517 (GRCm39) missense probably damaging 0.96
IGL01062:Maco1 APN 4 134,560,608 (GRCm39) missense probably damaging 0.97
IGL02249:Maco1 APN 4 134,555,623 (GRCm39) missense possibly damaging 0.50
IGL02850:Maco1 APN 4 134,555,697 (GRCm39) missense probably benign 0.12
subtle UTSW 4 134,555,610 (GRCm39) missense probably damaging 1.00
R0400:Maco1 UTSW 4 134,555,427 (GRCm39) missense probably benign 0.25
R0548:Maco1 UTSW 4 134,533,971 (GRCm39) missense probably damaging 1.00
R1536:Maco1 UTSW 4 134,531,818 (GRCm39) missense probably damaging 1.00
R2063:Maco1 UTSW 4 134,555,590 (GRCm39) missense possibly damaging 0.95
R2151:Maco1 UTSW 4 134,538,534 (GRCm39) missense probably benign 0.00
R2509:Maco1 UTSW 4 134,531,699 (GRCm39) missense probably damaging 1.00
R2510:Maco1 UTSW 4 134,531,699 (GRCm39) missense probably damaging 1.00
R2511:Maco1 UTSW 4 134,531,699 (GRCm39) missense probably damaging 1.00
R3806:Maco1 UTSW 4 134,557,891 (GRCm39) missense probably benign 0.00
R3946:Maco1 UTSW 4 134,531,792 (GRCm39) missense probably damaging 1.00
R4994:Maco1 UTSW 4 134,555,610 (GRCm39) missense probably damaging 1.00
R4999:Maco1 UTSW 4 134,555,444 (GRCm39) missense probably benign 0.23
R5169:Maco1 UTSW 4 134,555,774 (GRCm39) missense probably benign 0.23
R5310:Maco1 UTSW 4 134,564,330 (GRCm39) intron probably benign
R5443:Maco1 UTSW 4 134,560,619 (GRCm39) nonsense probably null
R5554:Maco1 UTSW 4 134,555,445 (GRCm39) missense probably benign
R5712:Maco1 UTSW 4 134,555,369 (GRCm39) missense probably benign 0.06
R6627:Maco1 UTSW 4 134,563,654 (GRCm39) missense probably damaging 0.98
R7100:Maco1 UTSW 4 134,533,971 (GRCm39) missense probably damaging 1.00
R7448:Maco1 UTSW 4 134,555,590 (GRCm39) missense possibly damaging 0.95
R8059:Maco1 UTSW 4 134,555,359 (GRCm39) nonsense probably null
R8300:Maco1 UTSW 4 134,555,762 (GRCm39) missense probably benign
R9246:Maco1 UTSW 4 134,565,242 (GRCm39) missense possibly damaging 0.50
R9786:Maco1 UTSW 4 134,557,993 (GRCm39) nonsense probably null
X0062:Maco1 UTSW 4 134,563,658 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACTTACCTTACCAGCGCGTC -3'
(R):5'- GATCCTTATACACCACAACGGAGGC -3'

Sequencing Primer
(F):5'- CTGGTTGTTAGGAATACAGTTCTCC -3'
(R):5'- ACGTTGCCAGAGATAGAATATCG -3'
Posted On 2013-07-11