Incidental Mutation 'R5934:Macir'
ID 462065
Institutional Source Beutler Lab
Gene Symbol Macir
Ensembl Gene ENSMUSG00000044768
Gene Name macrophage immunometabolism regulator
Synonyms D1Ertd622e
MMRRC Submission 044128-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R5934 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 97571627-97589743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97573655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 137 (C137S)
Ref Sequence ENSEMBL: ENSMUSP00000138031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053033] [ENSMUST00000142234] [ENSMUST00000149927] [ENSMUST00000153115]
AlphaFold Q8VEB3
Predicted Effect possibly damaging
Transcript: ENSMUST00000053033
AA Change: C137S

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000051034
Gene: ENSMUSG00000044768
AA Change: C137S

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 201 2.3e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142234
SMART Domains Protein: ENSMUSP00000137803
Gene: ENSMUSG00000044768

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 134 1.1e-74 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000149927
AA Change: C137S

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121997
Gene: ENSMUSG00000044768
AA Change: C137S

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 201 8.7e-116 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153115
AA Change: C137S

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138031
Gene: ENSMUSG00000044768
AA Change: C137S

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 201 2.3e-119 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,980,806 (GRCm39) V596A probably benign Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Afg1l G A 10: 42,194,682 (GRCm39) T370M probably damaging Het
Aldh2 T C 5: 121,717,678 (GRCm39) T118A probably benign Het
Apcdd1 C T 18: 63,084,940 (GRCm39) A379V possibly damaging Het
Atp1a3 T C 7: 24,678,299 (GRCm39) probably benign Het
Calhm5 A G 10: 33,968,198 (GRCm39) V285A possibly damaging Het
Cd96 G T 16: 45,938,266 (GRCm39) D66E probably benign Het
Cdh5 T A 8: 104,864,900 (GRCm39) V506E probably benign Het
Cep70 T C 9: 99,136,318 (GRCm39) I7T probably benign Het
Ckb A T 12: 111,636,663 (GRCm39) V237D probably damaging Het
Col6a6 C T 9: 105,644,274 (GRCm39) D1306N probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Ddhd2 A G 8: 26,243,140 (GRCm39) S19P probably damaging Het
Dnah17 G T 11: 117,931,928 (GRCm39) D3681E probably benign Het
Dop1a T A 9: 86,424,495 (GRCm39) Y2068* probably null Het
Fryl T C 5: 73,248,060 (GRCm39) Y1019C probably damaging Het
Fsip2 G A 2: 82,817,092 (GRCm39) C4275Y possibly damaging Het
Gapdh A G 6: 125,139,664 (GRCm39) V202A probably damaging Het
Gmeb2 T C 2: 180,897,367 (GRCm39) I250M possibly damaging Het
Gpr88 C T 3: 116,045,958 (GRCm39) G118R probably damaging Het
Hdhd3 C A 4: 62,417,607 (GRCm39) V190L possibly damaging Het
Heg1 C T 16: 33,547,289 (GRCm39) T461M probably damaging Het
Hspg2 A G 4: 137,246,083 (GRCm39) Y989C probably damaging Het
Ift74 A T 4: 94,520,971 (GRCm39) M175L probably benign Het
Kcnh3 G A 15: 99,124,414 (GRCm39) R101Q possibly damaging Het
Kif20b G T 19: 34,918,721 (GRCm39) V702F probably benign Het
Klhl1 A G 14: 96,360,651 (GRCm39) probably null Het
Lrrk2 T C 15: 91,618,249 (GRCm39) V916A probably benign Het
Mpp4 A T 1: 59,160,535 (GRCm39) D589E probably damaging Het
Msl2 T C 9: 100,979,017 (GRCm39) C464R probably damaging Het
Mucl2 A T 15: 103,927,832 (GRCm39) S42T probably benign Het
Musk T A 4: 58,373,613 (GRCm39) L838Q probably damaging Het
Nos1 A G 5: 118,074,510 (GRCm39) H1052R probably damaging Het
Or10d4b C T 9: 39,534,479 (GRCm39) T20I probably damaging Het
Or10v1 A G 19: 11,874,293 (GRCm39) R303G probably benign Het
Or1j20 T A 2: 36,760,280 (GRCm39) I234N probably benign Het
Or2at1 A T 7: 99,416,596 (GRCm39) I76F probably damaging Het
Or4d2 T C 11: 87,784,049 (GRCm39) R234G possibly damaging Het
Or52e15 C A 7: 104,645,385 (GRCm39) C242F probably damaging Het
Or56a5 G A 7: 104,792,867 (GRCm39) S211F probably benign Het
Or5w8 T C 2: 87,687,585 (GRCm39) V22A probably benign Het
Or8u8 T A 2: 86,012,446 (GRCm39) Q3L probably benign Het
Pard3 T G 8: 128,115,819 (GRCm39) L636R probably damaging Het
Pigr A T 1: 130,772,264 (GRCm39) S161C probably damaging Het
Polr1e T C 4: 45,029,369 (GRCm39) S325P probably damaging Het
Prrc2a A T 17: 35,369,060 (GRCm39) V1992E probably damaging Het
Psma5-ps T C 10: 85,150,145 (GRCm39) noncoding transcript Het
Ptpdc1 T C 13: 48,739,845 (GRCm39) K468E probably benign Het
Rab22a A G 2: 173,503,297 (GRCm39) T37A probably damaging Het
Rai14 T A 15: 10,575,245 (GRCm39) K571I probably damaging Het
Reck G A 4: 43,930,979 (GRCm39) G660D probably damaging Het
Rgs4 T C 1: 169,572,807 (GRCm39) D43G possibly damaging Het
Ryr2 A T 13: 11,599,040 (GRCm39) D4645E probably damaging Het
Sf3b3 A G 8: 111,550,102 (GRCm39) S639P probably damaging Het
Slc27a4 G T 2: 29,701,672 (GRCm39) R430L probably damaging Het
Slfn1 T A 11: 83,012,770 (GRCm39) Y295* probably null Het
Slfn5 C T 11: 82,847,418 (GRCm39) S101L probably damaging Het
Sult1d1 CCATG CCATGGCATG 5: 87,707,629 (GRCm39) probably null Het
Tchh A T 3: 93,351,419 (GRCm39) Q286H unknown Het
Tmem184c A T 8: 78,331,352 (GRCm39) Y172* probably null Het
Tsc22d1 T G 14: 76,656,266 (GRCm39) M833R possibly damaging Het
Ugt1a7c G T 1: 88,023,601 (GRCm39) L253F probably damaging Het
Usp19 C T 9: 108,369,766 (GRCm39) probably benign Het
Xirp2 T A 2: 67,355,148 (GRCm39) I3303K possibly damaging Het
Zfp574 G A 7: 24,779,757 (GRCm39) A260T probably benign Het
Zswim6 A G 13: 107,880,642 (GRCm39) noncoding transcript Het
Other mutations in Macir
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Macir APN 1 97,573,731 (GRCm39) missense probably damaging 0.99
IGL02349:Macir APN 1 97,573,777 (GRCm39) missense probably damaging 1.00
R0577:Macir UTSW 1 97,589,551 (GRCm39) splice site probably null
R1646:Macir UTSW 1 97,573,531 (GRCm39) missense probably damaging 0.99
R3611:Macir UTSW 1 97,574,059 (GRCm39) missense probably damaging 1.00
R5270:Macir UTSW 1 97,573,720 (GRCm39) missense probably damaging 1.00
R6863:Macir UTSW 1 97,574,030 (GRCm39) missense probably benign
R7133:Macir UTSW 1 97,573,645 (GRCm39) missense probably benign 0.01
R7911:Macir UTSW 1 97,573,615 (GRCm39) missense probably damaging 0.98
R8384:Macir UTSW 1 97,573,655 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GTTTCTAGCAAACACTCGGTC -3'
(R):5'- GTTAGCCCAGAAGTGCACAG -3'

Sequencing Primer
(F):5'- AAACACTCGGTCCCCTCGG -3'
(R):5'- CCCAGAAGTGCACAGGAGGG -3'
Posted On 2017-02-28