Incidental Mutation 'R6127:Maea'
ID 487439
Institutional Source Beutler Lab
Gene Symbol Maea
Ensembl Gene ENSMUSG00000079562
Gene Name macrophage erythroblast attacher
Synonyms 1110030D19Rik, Gid9
MMRRC Submission 044274-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6127 (G1)
Quality Score 83.0076
Status Not validated
Chromosome 5
Chromosomal Location 33492916-33530638 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 33492862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114449] [ENSMUST00000200716] [ENSMUST00000200882] [ENSMUST00000202113]
AlphaFold Q4VC33
Predicted Effect probably benign
Transcript: ENSMUST00000114449
SMART Domains Protein: ENSMUSP00000110093
Gene: ENSMUSG00000079562

DomainStartEndE-ValueType
low complexity region 64 75 N/A INTRINSIC
LisH 121 153 3.01e-6 SMART
CTLH 159 216 2.16e-16 SMART
CRA 212 306 8.31e-14 SMART
low complexity region 347 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200716
SMART Domains Protein: ENSMUSP00000144584
Gene: ENSMUSG00000079562

DomainStartEndE-ValueType
low complexity region 64 75 N/A INTRINSIC
LisH 115 146 1.1e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200882
Predicted Effect probably benign
Transcript: ENSMUST00000202113
SMART Domains Protein: ENSMUSP00000144238
Gene: ENSMUSG00000079562

DomainStartEndE-ValueType
low complexity region 16 27 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele die perinatally displaying reduced fetal size, pallor, reduced numbers of erythroblastic islands, defects in terminal erythroid maturation, and severely impaired terminal differentiation of fetal liver macrophages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003F12Rik A G 2: 154,391,509 (GRCm39) E92G probably damaging Het
4931429L15Rik T A 9: 46,220,220 (GRCm39) D104V probably damaging Het
Actl9 T C 17: 33,652,354 (GRCm39) V138A probably benign Het
Agl T A 3: 116,551,978 (GRCm39) I1204F probably damaging Het
Akna G T 4: 63,286,356 (GRCm39) T1381N possibly damaging Het
Atm A C 9: 53,435,809 (GRCm39) L167W probably damaging Het
Atp2b2 C T 6: 113,790,838 (GRCm39) E189K probably damaging Het
Bend7 A G 2: 4,768,088 (GRCm39) D348G probably damaging Het
Cactin G A 10: 81,160,143 (GRCm39) R412H possibly damaging Het
Carmil1 T C 13: 24,220,335 (GRCm39) T726A probably benign Het
Csmd3 T A 15: 47,513,624 (GRCm39) I2829F probably damaging Het
Ddx50 A T 10: 62,457,342 (GRCm39) probably null Het
Epha5 T G 5: 84,218,953 (GRCm39) K937N probably damaging Het
Fblim1 G A 4: 141,312,033 (GRCm39) R231C probably damaging Het
Fuca1 T A 4: 135,662,122 (GRCm39) I350N probably damaging Het
Hagh G T 17: 25,079,978 (GRCm39) M152I probably damaging Het
Hexd T C 11: 121,107,825 (GRCm39) V185A possibly damaging Het
Ireb2 A G 9: 54,789,652 (GRCm39) T109A probably benign Het
Kcnh2 A G 5: 24,530,001 (GRCm39) Y702H probably damaging Het
Leng1 G A 7: 3,665,866 (GRCm39) P157L probably damaging Het
Mertk G T 2: 128,580,211 (GRCm39) V222F probably damaging Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Muc13 G A 16: 33,619,317 (GRCm39) A22T unknown Het
Muc16 T A 9: 18,569,174 (GRCm39) H1115L unknown Het
Or2y1d C A 11: 49,321,633 (GRCm39) T110K probably damaging Het
Or5ae2 T A 7: 84,506,410 (GRCm39) L278M probably damaging Het
Or5l13 T A 2: 87,779,705 (GRCm39) S291C probably damaging Het
Or6c69 A G 10: 129,747,284 (GRCm39) Y288H probably damaging Het
Pak5 G A 2: 135,929,326 (GRCm39) P619L probably damaging Het
Pcdh17 A G 14: 84,770,500 (GRCm39) K993E probably damaging Het
Pcdhga3 A T 18: 37,807,757 (GRCm39) Q70L probably damaging Het
Pcdhgb5 C A 18: 37,865,932 (GRCm39) R576S probably damaging Het
Pold1 T C 7: 44,191,545 (GRCm39) Y147C probably damaging Het
Prag1 T C 8: 36,614,555 (GRCm39) L1369P unknown Het
Psg29 T A 7: 16,945,671 (GRCm39) F414I probably benign Het
Robo1 A T 16: 72,809,956 (GRCm39) M1235L probably benign Het
Rp1 C A 1: 4,419,534 (GRCm39) S526I possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Setd7 G A 3: 51,437,502 (GRCm39) T251I probably damaging Het
Slc25a41 T A 17: 57,341,914 (GRCm39) Y145F probably damaging Het
Stag1 T C 9: 100,833,750 (GRCm39) V1121A probably benign Het
Svip T C 7: 51,653,201 (GRCm39) T38A probably benign Het
Tacc2 A T 7: 130,227,845 (GRCm39) H1510L possibly damaging Het
Trav19 A G 14: 54,082,999 (GRCm39) T25A probably benign Het
Trip4 A T 9: 65,773,752 (GRCm39) probably null Het
Tulp1 T A 17: 28,575,124 (GRCm39) H447L probably benign Het
Vmn1r200 A T 13: 22,579,373 (GRCm39) T59S probably benign Het
Vmn2r51 A T 7: 9,839,558 (GRCm39) L10H probably damaging Het
Wee2 T C 6: 40,426,701 (GRCm39) Y157H probably damaging Het
Xrn1 T C 9: 95,851,542 (GRCm39) S187P probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Maea
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Maea APN 5 33,529,645 (GRCm39) missense probably benign 0.01
IGL01540:Maea APN 5 33,515,910 (GRCm39) missense probably benign 0.12
R0365:Maea UTSW 5 33,517,787 (GRCm39) missense probably benign 0.01
R0562:Maea UTSW 5 33,529,645 (GRCm39) missense probably benign 0.01
R1450:Maea UTSW 5 33,523,144 (GRCm39) critical splice donor site probably null
R1576:Maea UTSW 5 33,520,040 (GRCm39) missense probably damaging 1.00
R2177:Maea UTSW 5 33,529,034 (GRCm39) missense probably benign 0.00
R2520:Maea UTSW 5 33,515,854 (GRCm39) missense probably damaging 0.98
R4580:Maea UTSW 5 33,517,832 (GRCm39) missense possibly damaging 0.92
R4710:Maea UTSW 5 33,526,034 (GRCm39) missense probably benign 0.01
R5786:Maea UTSW 5 33,526,027 (GRCm39) missense probably benign 0.01
R7178:Maea UTSW 5 33,515,854 (GRCm39) missense probably damaging 0.98
R7542:Maea UTSW 5 33,529,007 (GRCm39) missense probably damaging 1.00
R7828:Maea UTSW 5 33,517,722 (GRCm39) missense probably benign 0.01
R7909:Maea UTSW 5 33,527,820 (GRCm39) nonsense probably null
R7909:Maea UTSW 5 33,527,818 (GRCm39) missense possibly damaging 0.71
R9633:Maea UTSW 5 33,526,050 (GRCm39) missense possibly damaging 0.74
Predicted Primers
Posted On 2017-10-10