Incidental Mutation 'R4580:Maea'
ID343578
Institutional Source Beutler Lab
Gene Symbol Maea
Ensembl Gene ENSMUSG00000079562
Gene Namemacrophage erythroblast attacher
Synonyms
MMRRC Submission 041599-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4580 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location33335509-33373296 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33360488 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 130 (V130A)
Ref Sequence ENSEMBL: ENSMUSP00000110093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114449] [ENSMUST00000200716] [ENSMUST00000200882] [ENSMUST00000202113]
Predicted Effect possibly damaging
Transcript: ENSMUST00000114449
AA Change: V130A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110093
Gene: ENSMUSG00000079562
AA Change: V130A

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: V124A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000144584
Gene: ENSMUSG00000079562
AA Change: V124A

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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
2810408A11Rik T C 11: 69,900,411 Y114C probably damaging Het
4932438A13Rik A T 3: 37,030,025 T3864S probably benign Het
Abcc2 T C 19: 43,811,119 S556P probably damaging Het
AI314180 T C 4: 58,840,751 Y669C probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 118,121,899 probably benign Het
Atp6v1g1 A G 4: 63,550,032 N91D probably benign Het
BC005537 G T 13: 24,803,411 A11S probably benign Het
BC049352 G T 9: 45,244,128 probably null Het
Bub1 A C 2: 127,829,676 probably null Het
Ccdc162 T C 10: 41,561,140 T1758A probably benign Het
Cdh15 T C 8: 122,865,158 L594P probably damaging Het
Cobll1 C T 2: 65,151,073 V90I probably benign Het
Cog2 T C 8: 124,545,136 V463A probably benign Het
Cpeb4 T A 11: 31,927,757 probably null Het
Creb5 G A 6: 53,604,534 M172I possibly damaging Het
Cyp4a32 T C 4: 115,602,929 silent Het
Dnah8 T A 17: 30,662,052 S588T probably benign Het
Esd T C 14: 74,742,077 V120A possibly damaging Het
Fbxo5 T C 10: 5,805,255 probably null Het
Gm4922 T C 10: 18,783,684 D430G probably benign Het
Golga4 C A 9: 118,557,259 Q1150K probably benign Het
Grb14 T C 2: 64,953,603 N60S probably benign Het
Grk4 A G 5: 34,660,981 N2S probably damaging Het
Henmt1 T A 3: 108,942,765 S21R probably benign Het
Ifngr2 A G 16: 91,558,018 K113E probably benign Het
Ighv15-2 T A 12: 114,564,970 T15S probably benign Het
Kif24 A G 4: 41,395,287 S529P probably damaging Het
Large2 T C 2: 92,370,612 N51S possibly damaging Het
Lmtk2 A G 5: 144,174,781 E773G possibly damaging Het
Lrfn3 A T 7: 30,360,042 C253S probably damaging Het
March11 A T 15: 26,311,103 I222F probably damaging Het
Mast4 A T 13: 102,737,258 Y1699* probably null Het
Mavs G T 2: 131,240,450 A85S probably damaging Het
Mpzl3 T A 9: 45,068,231 V160E possibly damaging Het
Myh15 T C 16: 49,065,025 S88P possibly damaging Het
Myl2 A T 5: 122,106,738 H157L probably benign Het
Myo9b A G 8: 71,315,135 N284S probably damaging Het
Nphp1 A G 2: 127,768,169 probably null Het
Nrcam T C 12: 44,562,540 probably null Het
Nt5c3b G T 11: 100,433,059 F134L probably damaging Het
Olfr1225 T A 2: 89,171,200 Q4L probably benign Het
Otog A G 7: 46,287,801 R1645G possibly damaging Het
Pask T C 1: 93,322,108 I523M probably benign Het
Pcdhb7 T A 18: 37,342,135 L108Q probably damaging Het
Pdp2 C A 8: 104,594,944 T475K probably damaging Het
Pgbd1 G C 13: 21,428,329 P113A probably benign Het
Plk5 C T 10: 80,360,467 H291Y possibly damaging Het
Pmpca G T 2: 26,393,335 S382I probably damaging Het
Prl3b1 A G 13: 27,249,467 T202A possibly damaging Het
Ptgs2 A T 1: 150,104,094 T317S possibly damaging Het
Ptprc C T 1: 138,071,251 M1020I probably benign Het
Rhbdl3 T C 11: 80,353,645 Y393H probably damaging Het
Sema3e T C 5: 14,233,703 L482P probably damaging Het
Setd2 C T 9: 110,574,243 T1984I probably benign Het
Slc17a1 T C 13: 23,887,977 Y393H probably damaging Het
Slc9a3 C T 13: 74,158,886 R377* probably null Het
Slitrk3 A G 3: 73,051,206 S78P probably damaging Het
Specc1 T A 11: 62,219,331 V1054E probably damaging Het
Tbc1d4 T C 14: 101,458,783 T847A probably benign Het
Tcf7l2 G A 19: 55,919,036 G343R probably damaging Het
Tex36 A C 7: 133,587,382 Y154D possibly damaging Het
Topaz1 T A 9: 122,747,515 M57K probably null Het
Trav6-4 T C 14: 53,454,699 Y85H probably damaging Het
Trim30d A G 7: 104,472,558 Y327H possibly damaging Het
Ttn A G 2: 76,951,396 V1056A probably benign Het
Usp32 C A 11: 85,059,127 probably null Het
Vmn1r59 A T 7: 5,454,137 M208K probably damaging Het
Vmn2r25 T C 6: 123,823,023 T787A possibly damaging Het
Vps39 A T 2: 120,339,333 I246N probably benign Het
Xab2 T C 8: 3,610,162 D855G probably damaging Het
Xpc A G 6: 91,500,011 S369P probably benign Het
Ythdc2 T A 18: 44,858,198 C758S possibly damaging Het
Zfp62 A G 11: 49,216,272 I397V possibly damaging Het
Zscan4d A G 7: 11,162,508 S312P probably benign Het
Other mutations in Maea
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Maea APN 5 33372301 missense probably benign 0.01
IGL01540:Maea APN 5 33358566 missense probably benign 0.12
R0365:Maea UTSW 5 33360443 missense probably benign 0.01
R0562:Maea UTSW 5 33372301 missense probably benign 0.01
R1450:Maea UTSW 5 33365800 critical splice donor site probably null
R1576:Maea UTSW 5 33362696 missense probably damaging 1.00
R2177:Maea UTSW 5 33371690 missense probably benign 0.00
R2520:Maea UTSW 5 33358510 missense probably damaging 0.98
R4710:Maea UTSW 5 33368690 missense probably benign 0.01
R5786:Maea UTSW 5 33368683 missense probably benign 0.01
R6127:Maea UTSW 5 33335518 unclassified probably benign
R7178:Maea UTSW 5 33358510 missense probably damaging 0.98
R7542:Maea UTSW 5 33371663 missense probably damaging 1.00
R7828:Maea UTSW 5 33360378 missense probably benign 0.01
R7909:Maea UTSW 5 33370474 missense possibly damaging 0.71
R7909:Maea UTSW 5 33370476 nonsense probably null
R7990:Maea UTSW 5 33370474 missense possibly damaging 0.71
R7990:Maea UTSW 5 33370476 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CATTCAGAGGAGAGGCGCATAC -3'
(R):5'- GTATCCTGTGACTGTCGCTG -3'

Sequencing Primer
(F):5'- GAGAGGCGCATACATACGTTTTC -3'
(R):5'- TCGCTGACTGTTGGGCAC -3'
Posted On2015-09-24