Incidental Mutation 'R0365:Maea'
ID 36335
Institutional Source Beutler Lab
Gene Symbol Maea
Ensembl Gene ENSMUSG00000079562
Gene Name macrophage erythroblast attacher
Synonyms 1110030D19Rik, Gid9
MMRRC Submission 038571-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0365 (G1)
Quality Score 98
Status Not validated
Chromosome 5
Chromosomal Location 33492916-33530638 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33517787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 109 (A109V)
Ref Sequence ENSEMBL: ENSMUSP00000144584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114449] [ENSMUST00000200716] [ENSMUST00000200882] [ENSMUST00000202113]
AlphaFold Q4VC33
Predicted Effect probably benign
Transcript: ENSMUST00000114449
AA Change: A115V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110093
Gene: ENSMUSG00000079562
AA Change: A115V

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
AA Change: A109V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000144584
Gene: ENSMUSG00000079562
AA Change: A109V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202941
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,088 (GRCm39) M173K probably benign Het
Abcb1b T A 5: 8,856,009 (GRCm39) F39Y probably damaging Het
Acbd3 A G 1: 180,566,177 (GRCm39) Y290C probably damaging Het
Alg12 A C 15: 88,700,352 (GRCm39) I28R possibly damaging Het
Amer2 A T 14: 60,616,984 (GRCm39) D393V probably damaging Het
Anxa5 A T 3: 36,511,618 (GRCm39) V153D probably damaging Het
Arl5a T C 2: 52,306,141 (GRCm39) M64V probably benign Het
Astn1 T C 1: 158,516,118 (GRCm39) L1236P probably damaging Het
Atg2a T C 19: 6,297,713 (GRCm39) S424P possibly damaging Het
AW551984 A T 9: 39,510,617 (GRCm39) S239R probably benign Het
Baz1b T C 5: 135,268,985 (GRCm39) V1278A probably benign Het
Cbfa2t3 G T 8: 123,361,799 (GRCm39) L408I probably benign Het
Cdc27 A T 11: 104,419,250 (GRCm39) N227K possibly damaging Het
Cdh20 A T 1: 110,036,486 (GRCm39) Q555H probably damaging Het
Cdh23 T A 10: 60,215,094 (GRCm39) N1412I probably damaging Het
Cdhr2 T C 13: 54,866,105 (GRCm39) S302P probably benign Het
Cep350 C A 1: 155,782,317 (GRCm39) E1563D probably benign Het
Cfap221 T A 1: 119,912,753 (GRCm39) E107V probably benign Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Coro6 A T 11: 77,354,916 (GRCm39) I60F probably benign Het
Dennd2b A T 7: 109,138,156 (GRCm39) V753E probably damaging Het
Dock10 G T 1: 80,573,400 (GRCm39) N245K probably damaging Het
Epb41l2 T A 10: 25,345,119 (GRCm39) N286K probably damaging Het
Fam83g G T 11: 61,593,935 (GRCm39) E490* probably null Het
Gnb1l T C 16: 18,371,211 (GRCm39) I234T possibly damaging Het
Gtf3a T A 5: 146,885,747 (GRCm39) W53R probably damaging Het
Ikzf4 T C 10: 128,470,276 (GRCm39) I415V probably benign Het
Il11ra1 T C 4: 41,767,527 (GRCm39) V293A probably damaging Het
Il17ra G A 6: 120,455,410 (GRCm39) V340M probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Kif24 A T 4: 41,428,731 (GRCm39) H76Q probably benign Het
Klhl25 T C 7: 75,516,264 (GRCm39) L390P probably damaging Het
Klhl26 T C 8: 70,904,479 (GRCm39) D443G probably damaging Het
Lama3 A T 18: 12,640,064 (GRCm39) R86S probably damaging Het
Lrrc24 G A 15: 76,599,984 (GRCm39) A385V probably benign Het
Mtor A T 4: 148,570,507 (GRCm39) Y1188F probably benign Het
Nccrp1 T C 7: 28,243,977 (GRCm39) D202G probably damaging Het
Nsun4 A T 4: 115,901,935 (GRCm39) L177Q probably damaging Het
Nup155 C T 15: 8,161,027 (GRCm39) R571W probably damaging Het
Nup160 T A 2: 90,539,188 (GRCm39) M789K probably benign Het
Odad2 T A 18: 7,217,800 (GRCm39) H638L probably benign Het
Or5an1c A G 19: 12,218,440 (GRCm39) F195S probably benign Het
Or5p50 A T 7: 107,422,124 (GRCm39) L184* probably null Het
Or8d2b A T 9: 38,788,481 (GRCm39) H3L probably benign Het
Pgpep1 G T 8: 71,105,174 (GRCm39) probably null Het
Pkd1l2 C T 8: 117,748,589 (GRCm39) V1861M probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plin4 G T 17: 56,411,667 (GRCm39) T788K possibly damaging Het
Ppp3r2 T C 4: 49,681,902 (GRCm39) D16G possibly damaging Het
Pramel22 G T 4: 143,382,071 (GRCm39) Y208* probably null Het
Prdm16 A T 4: 154,426,513 (GRCm39) I424N probably damaging Het
Psen2 T A 1: 180,056,410 (GRCm39) I396F probably damaging Het
Psip1 C T 4: 83,403,949 (GRCm39) probably null Het
Ptprd G A 4: 76,055,083 (GRCm39) T215I probably damaging Het
Rec114 A G 9: 58,648,822 (GRCm39) S2P probably benign Het
Rexo1 A G 10: 80,378,410 (GRCm39) I1181T probably damaging Het
Rfx7 T C 9: 72,527,118 (GRCm39) M1436T probably benign Het
Rnf213 T A 11: 119,316,937 (GRCm39) V1020E possibly damaging Het
Rorc G A 3: 94,296,069 (GRCm39) G83S probably damaging Het
Ryr2 T G 13: 11,683,725 (GRCm39) Q3113P possibly damaging Het
Shank1 T C 7: 44,003,401 (GRCm39) S1698P possibly damaging Het
Slc2a2 T C 3: 28,762,828 (GRCm39) probably null Het
Slc5a9 A T 4: 111,749,033 (GRCm39) Y98* probably null Het
Smc6 T C 12: 11,333,175 (GRCm39) probably null Het
Sptb G T 12: 76,647,157 (GRCm39) F1959L probably benign Het
Srgap1 T A 10: 121,621,610 (GRCm39) H984L possibly damaging Het
Ssc5d T A 7: 4,931,466 (GRCm39) C224* probably null Het
Ston2 A T 12: 91,614,634 (GRCm39) H591Q probably benign Het
Tbx3 C T 5: 119,813,315 (GRCm39) A222V possibly damaging Het
Thsd7a A G 6: 12,321,886 (GRCm39) probably null Het
Usp9y T C Y: 1,364,732 (GRCm39) D1027G probably damaging Het
Wnt5a C T 14: 28,240,461 (GRCm39) R184* probably null Het
Zfpm2 A G 15: 40,637,462 (GRCm39) E74G possibly damaging Het
Zwint C A 10: 72,493,127 (GRCm39) S223* probably null 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
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
R6127:Maea UTSW 5 33,492,862 (GRCm39) unclassified probably benign
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 PCR Primer
(F):5'- TTTTGTGAGCATTCAGAGGAGAGGC -3'
(R):5'- GTATCCTGTGACTGTCGCTGACTG -3'

Sequencing Primer
(F):5'- GAGGCGCATACATACGTTTTC -3'
(R):5'- ACTGTTGGGCACCCACTAC -3'
Posted On 2013-05-09