Incidental Mutation 'R5554:Maco1'
ID 435275
Institutional Source Beutler Lab
Gene Symbol Maco1
Ensembl Gene ENSMUSG00000028826
Gene Name macoilin 1
Synonyms Tmem57, 9230118A01Rik, 1110007C24Rik, C61
MMRRC Submission 043111-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.637) question?
Stock # R5554 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 134530070-134580656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134555445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 343 (I343V)
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: I343V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030628
Gene: ENSMUSG00000028826
AA Change: I343V

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 0.0596 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 97% (73/75)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 C A 11: 101,304,807 (GRCm39) R227L probably benign Het
Adamtsl1 A G 4: 86,195,182 (GRCm39) Q533R possibly damaging Het
Adgb C T 10: 10,216,217 (GRCm39) R1524H probably damaging Het
Ank2 A T 3: 126,792,622 (GRCm39) N739K possibly damaging Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Anxa10 G A 8: 62,514,080 (GRCm39) P249L possibly damaging Het
Banp G A 8: 122,718,334 (GRCm39) E183K probably damaging Het
BC051665 C G 13: 60,932,435 (GRCm39) L83F probably damaging Het
Btn1a1 A T 13: 23,643,295 (GRCm39) F385I possibly damaging Het
Chchd4 A T 6: 91,441,999 (GRCm39) *140R probably null Het
Dcpp2 T C 17: 24,119,545 (GRCm39) Y120H probably damaging Het
Dlx2 G A 2: 71,375,805 (GRCm39) R173C possibly damaging Het
Dmbt1 C A 7: 130,701,030 (GRCm39) Y1069* probably null Het
Dop1a T A 9: 86,403,710 (GRCm39) F1637I probably damaging Het
Dusp18 T C 11: 3,847,202 (GRCm39) I64T probably damaging Het
Evi5l A G 8: 4,256,491 (GRCm39) probably benign Het
Fiz1 T C 7: 5,015,849 (GRCm39) H47R probably damaging Het
Fndc3b G T 3: 27,697,162 (GRCm39) P17T possibly damaging Het
Foxa1 T A 12: 57,589,077 (GRCm39) Q381L probably benign Het
Gda A G 19: 21,405,837 (GRCm39) probably null Het
Gm10044 T C 14: 7,771,181 (GRCm38) noncoding transcript Het
Gm12258 T A 11: 58,749,294 (GRCm39) S156R possibly damaging Het
Gm973 A G 1: 59,566,131 (GRCm39) R117G probably benign Het
Grwd1 C T 7: 45,480,064 (GRCm39) V48I probably damaging Het
Ifi209 T A 1: 173,468,763 (GRCm39) S198T probably benign Het
Inka2 T A 3: 105,623,930 (GRCm39) S82R possibly damaging Het
Itga1 A T 13: 115,129,010 (GRCm39) C549* probably null Het
Kmt2c C A 5: 25,499,608 (GRCm39) G511C probably damaging Het
Knstrn T C 2: 118,664,444 (GRCm39) probably benign Het
Lrp2 T C 2: 69,382,768 (GRCm39) Y39C possibly damaging Het
Micos10 T C 4: 138,833,218 (GRCm39) probably benign Het
N4bp2 T C 5: 65,965,457 (GRCm39) Y1169H probably benign Het
Nbr1 C T 11: 101,455,633 (GRCm39) T129I probably benign Het
Or52e8 A C 7: 104,625,189 (GRCm39) M1R probably null Het
Or5k15 A T 16: 58,710,169 (GRCm39) M138K possibly damaging Het
Or7g25 T C 9: 19,160,039 (GRCm39) I219V probably benign Het
Oxct1 T A 15: 4,120,677 (GRCm39) F254I probably benign Het
Patj T A 4: 98,342,633 (GRCm39) S576T possibly damaging Het
Pdxdc1 A T 16: 13,690,363 (GRCm39) C202S probably benign Het
Pet100 A T 8: 3,672,381 (GRCm39) I19F probably damaging Het
Pik3r5 T C 11: 68,385,059 (GRCm39) Y655H probably damaging Het
Pkhd1 A G 1: 20,151,476 (GRCm39) S3807P probably damaging Het
Ptma A G 1: 86,454,649 (GRCm39) T8A probably damaging Het
Ptpn3 G T 4: 57,240,843 (GRCm39) N257K probably damaging Het
R3hdm1 C A 1: 128,164,409 (GRCm39) Q1108K probably benign Het
Rimbp2 T C 5: 128,857,406 (GRCm39) D815G probably damaging Het
Scn10a A G 9: 119,523,196 (GRCm39) F66L probably benign Het
Selenot T C 3: 58,484,296 (GRCm39) probably null Het
Serpinb8 A G 1: 107,526,705 (GRCm39) T82A probably benign Het
Serpini2 G A 3: 75,175,295 (GRCm39) probably benign Het
Slc1a6 G T 10: 78,631,816 (GRCm39) G214V probably benign Het
Slc5a6 C A 5: 31,195,444 (GRCm39) A425S probably damaging Het
Smo C A 6: 29,736,123 (GRCm39) N38K possibly damaging Het
Smtn A T 11: 3,470,811 (GRCm39) C909* probably null Het
Sntg2 C T 12: 30,308,040 (GRCm39) R215H probably benign Het
Stk4 T A 2: 163,941,645 (GRCm39) V287E probably benign Het
Tdrd7 A G 4: 46,005,358 (GRCm39) D388G possibly damaging Het
Ttn A T 2: 76,642,652 (GRCm39) F13294L probably damaging Het
Ube2j1 T G 4: 33,040,745 (GRCm39) F84V probably damaging Het
Ugt3a1 A G 15: 9,370,287 (GRCm39) Q477R probably damaging Het
Utf1 T C 7: 139,523,859 (GRCm39) S25P probably benign Het
Vmn1r184 A T 7: 25,966,413 (GRCm39) H53L probably damaging Het
Vmn2r13 A T 5: 109,339,860 (GRCm39) N38K possibly damaging Het
Vps13a C T 19: 16,699,775 (GRCm39) D756N probably damaging Het
Vwa1 G T 4: 155,857,695 (GRCm39) D34E probably damaging Het
Zfhx2 A C 14: 55,301,774 (GRCm39) L2070R probably damaging Het
Zfp984 A G 4: 147,840,362 (GRCm39) V163A probably benign Het
Zp3r A T 1: 130,511,208 (GRCm39) M325K 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
R0589:Maco1 UTSW 4 134,555,528 (GRCm39) missense probably benign 0.30
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
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'- CCTTTTGGAGTCACCTCAAGAG -3'
(R):5'- TGTCCACAACGTTGCCAGAG -3'

Sequencing Primer
(F):5'- CTCAAGAGGAAGGGAGTGTACACAC -3'
(R):5'- CAACGTTGCCAGAGATAGAATATC -3'
Posted On 2016-10-24