Incidental Mutation 'R6863:Macir'
ID 535729
Institutional Source Beutler Lab
Gene Symbol Macir
Ensembl Gene ENSMUSG00000044768
Gene Name macrophage immunometabolism regulator
Synonyms D1Ertd622e
MMRRC Submission 044963-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.171) question?
Stock # R6863 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 97571627-97589743 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97574030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 12 (T12A)
Ref Sequence ENSEMBL: ENSMUSP00000138031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053033] [ENSMUST00000142234] [ENSMUST00000149927] [ENSMUST00000153115]
AlphaFold Q8VEB3
Predicted Effect probably benign
Transcript: ENSMUST00000053033
AA Change: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051034
Gene: ENSMUSG00000044768
AA Change: T12A

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 201 2.3e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142234
AA Change: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137803
Gene: ENSMUSG00000044768
AA Change: T12A

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 134 1.1e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149927
AA Change: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121997
Gene: ENSMUSG00000044768
AA Change: T12A

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 201 8.7e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153115
AA Change: T12A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000138031
Gene: ENSMUSG00000044768
AA Change: T12A

DomainStartEndE-ValueType
Pfam:UNC119_bdg 3 201 2.3e-119 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,277,627 (GRCm39) Y278* probably null Het
Agap3 A T 5: 24,657,461 (GRCm39) Y86F possibly damaging Het
Agap3 C A 5: 24,657,462 (GRCm39) Y86* probably null Het
Ahnak T C 19: 8,989,729 (GRCm39) probably benign Het
Arhgap45 G T 10: 79,853,616 (GRCm39) E43D probably benign Het
Cacna1d A C 14: 29,797,809 (GRCm39) I1426S probably damaging Het
Calhm5 C A 10: 33,968,451 (GRCm39) A201S probably benign Het
Cdkn2a T C 4: 89,193,003 (GRCm39) E159G probably benign Het
Cep85l C A 10: 53,225,214 (GRCm39) W125L probably damaging Het
Ces1g C T 8: 94,043,647 (GRCm39) V431M possibly damaging Het
Csmd1 G A 8: 17,584,929 (GRCm39) A21V possibly damaging Het
Ctsc T A 7: 87,951,486 (GRCm39) Y243* probably null Het
Ctu1 A G 7: 43,326,046 (GRCm39) E235G probably damaging Het
Degs2 T C 12: 108,668,457 (GRCm39) Y14C probably damaging Het
Dnaaf5 T C 5: 139,137,351 (GRCm39) F235L probably damaging Het
Dpp8 T C 9: 64,942,290 (GRCm39) S5P probably damaging Het
Dync1h1 T C 12: 110,618,614 (GRCm39) I3288T probably benign Het
Ebpl A T 14: 61,597,751 (GRCm39) L30Q probably damaging Het
Eif1ad15 T C 12: 88,287,968 (GRCm39) Y95C probably damaging Het
Etaa1 T A 11: 17,903,794 (GRCm39) M1L probably benign Het
Etl4 A G 2: 20,811,120 (GRCm39) T1068A probably benign Het
Eya1 C A 1: 14,341,199 (GRCm39) probably null Het
Fat1 G T 8: 45,497,501 (GRCm39) V4329L probably damaging Het
Fras1 A T 5: 96,691,165 (GRCm39) Q127L probably benign Het
Gm1110 T G 9: 26,792,360 (GRCm39) Y590S probably damaging Het
Gm14410 G A 2: 176,885,860 (GRCm39) Q135* probably null Het
Greb1 A T 12: 16,734,421 (GRCm39) V1523D probably damaging Het
Hmg20b T C 10: 81,182,854 (GRCm39) N210S probably damaging Het
Kcnh7 T C 2: 62,618,029 (GRCm39) K487E possibly damaging Het
Kcnk13 G T 12: 100,027,948 (GRCm39) R341L probably damaging Het
Kif17 T A 4: 137,997,195 (GRCm39) Y139* probably null Het
Klhl2 A T 8: 65,275,743 (GRCm39) N53K probably benign Het
Lrit2 G T 14: 36,793,901 (GRCm39) G322C probably damaging Het
Matcap1 T C 8: 106,012,435 (GRCm39) D4G probably damaging Het
Mgam A T 6: 40,705,943 (GRCm39) Q4L probably benign Het
Mst1r A G 9: 107,797,225 (GRCm39) T1365A probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Mydgf C A 17: 56,490,789 (GRCm39) V35L probably damaging Het
Nmt2 T A 2: 3,306,341 (GRCm39) probably null Het
Or10s1 A G 9: 39,986,110 (GRCm39) Y173C probably damaging Het
Or52ad1 C T 7: 102,996,123 (GRCm39) C4Y possibly damaging Het
Pik3r2 T C 8: 71,223,058 (GRCm39) Y454C probably damaging Het
Rad54l T C 4: 115,956,866 (GRCm39) Y485C probably damaging Het
Rapgef6 T A 11: 54,437,206 (GRCm39) S50T probably benign Het
Scaf11 T C 15: 96,317,300 (GRCm39) S755G probably damaging Het
Shb A G 4: 45,458,163 (GRCm39) W135R probably damaging Het
Slc1a4 T C 11: 20,264,001 (GRCm39) K239E probably damaging Het
Slc44a4 T A 17: 35,142,798 (GRCm39) V248D probably benign Het
Smpdl3a T A 10: 57,684,107 (GRCm39) Y288* probably null Het
Sptbn1 T C 11: 30,096,777 (GRCm39) M267V possibly damaging Het
Taok2 C T 7: 126,471,109 (GRCm39) R661Q probably damaging Het
Tas1r2 A T 4: 139,397,030 (GRCm39) I819F probably damaging Het
Themis2 A T 4: 132,516,907 (GRCm39) W198R probably damaging Het
Timd4 C G 11: 46,706,270 (GRCm39) S24* probably null Het
Tnrc18 T C 5: 142,800,952 (GRCm39) D2G probably damaging Het
Wdr35 A G 12: 9,040,047 (GRCm39) D384G probably damaging Het
Zfp560 C A 9: 20,259,795 (GRCm39) V356F probably damaging 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
R5934:Macir UTSW 1 97,573,655 (GRCm39) missense possibly damaging 0.69
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'- TCAGGAGTTCCTCACCAGTG -3'
(R):5'- GCAGCGCTCATTTGTTACCTG -3'

Sequencing Primer
(F):5'- TGGTGAAGCCAACCAAGTAGTTAG -3'
(R):5'- ACCTGCTCTGATGTGTCTCATAG -3'
Posted On 2018-10-18