Incidental Mutation 'R2177:Maea'
ID 236929
Institutional Source Beutler Lab
Gene Symbol Maea
Ensembl Gene ENSMUSG00000079562
Gene Name macrophage erythroblast attacher
Synonyms 1110030D19Rik, Gid9
MMRRC Submission 040179-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2177 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 33492916-33530638 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 33529034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 326 (Q326E)
Ref Sequence ENSEMBL: ENSMUSP00000110093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114449]
AlphaFold Q4VC33
Predicted Effect probably benign
Transcript: ENSMUST00000114449
AA Change: Q326E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000110093
Gene: ENSMUSG00000079562
AA Change: Q326E

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 noncoding transcript
Transcript: ENSMUST00000202839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202941
Meta Mutation Damage Score 0.0853 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (60/62)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,312 (GRCm39) N356K probably damaging Het
Acap2 C T 16: 30,952,346 (GRCm39) probably null Het
Adamts19 T C 18: 59,087,626 (GRCm39) L552P possibly damaging Het
Adamts2 T A 11: 50,668,055 (GRCm39) M539K probably damaging Het
Aplp1 A T 7: 30,141,946 (GRCm39) C210* probably null Het
Apoa1 A T 9: 46,141,371 (GRCm39) K156* probably null Het
AW551984 G A 9: 39,511,111 (GRCm39) R159C probably benign Het
Bok C T 1: 93,622,787 (GRCm39) Q112* probably null Het
Cemip2 T C 19: 21,789,149 (GRCm39) S528P possibly damaging Het
Cfap57 T G 4: 118,463,885 (GRCm39) I323L probably benign Het
Cfap69 T A 5: 5,675,803 (GRCm39) E270D probably damaging Het
Ch25h G T 19: 34,452,097 (GRCm39) L144M probably damaging Het
Clcn6 T A 4: 148,099,057 (GRCm39) I429F possibly damaging Het
Cpb1 T A 3: 20,320,611 (GRCm39) T115S probably benign Het
Csf1r T A 18: 61,248,015 (GRCm39) probably benign Het
Ddx6 A G 9: 44,539,028 (GRCm39) T279A probably damaging Het
Dnah8 A G 17: 30,872,367 (GRCm39) H452R probably benign Het
Dscam T A 16: 96,411,524 (GRCm39) D1784V probably damaging Het
Exo1 T A 1: 175,710,456 (GRCm39) probably null Het
Fcho1 A G 8: 72,164,905 (GRCm39) S459P probably damaging Het
Fxyd4 C T 6: 117,911,393 (GRCm39) A56T probably damaging Het
Gbf1 T C 19: 46,254,109 (GRCm39) S599P probably benign Het
Iqce T C 5: 140,677,348 (GRCm39) probably benign Het
Kat2a A G 11: 100,601,648 (GRCm39) F256L probably damaging Het
Klk1b1 G T 7: 43,618,695 (GRCm39) R24L possibly damaging Het
Krtap16-1 A G 11: 99,877,275 (GRCm39) V43A probably damaging Het
Man1a2 A T 3: 100,539,847 (GRCm39) I308N probably damaging Het
Marf1 G T 16: 13,970,471 (GRCm39) R83S probably benign Het
Me3 A C 7: 89,282,278 (GRCm39) T54P probably benign Het
Mme A T 3: 63,208,426 (GRCm39) I63L probably benign Het
Mmel1 A G 4: 154,978,560 (GRCm39) N664S probably damaging Het
Mrgprb2 A G 7: 48,202,128 (GRCm39) V199A probably benign Het
Mrpl36 T A 13: 73,479,588 (GRCm39) F33I probably benign Het
Nlrp4e A T 7: 23,054,686 (GRCm39) T947S probably benign Het
Or14c45 G A 7: 86,176,870 (GRCm39) V302I probably benign Het
Or4b1d T A 2: 89,968,808 (GRCm39) H225L possibly damaging Het
Or8b55 A T 9: 38,727,482 (GRCm39) I228F possibly damaging Het
Parp4 A T 14: 56,896,746 (GRCm39) R1923S unknown Het
Pcm1 T C 8: 41,729,002 (GRCm39) V658A probably benign Het
Pkhd1l1 A G 15: 44,322,791 (GRCm39) S26G probably benign Het
Prom1 A T 5: 44,184,081 (GRCm39) H433Q possibly damaging Het
Rab7 T C 6: 87,982,063 (GRCm39) D104G probably damaging Het
Rabgap1l A G 1: 160,551,632 (GRCm39) V282A possibly damaging Het
Rdh13 T C 7: 4,430,666 (GRCm39) E264G possibly damaging Het
Rock1 C G 18: 10,070,263 (GRCm39) R1270T probably benign Het
Sdhaf4 C T 1: 24,035,370 (GRCm39) G93R probably damaging Het
Sec24a T C 11: 51,595,228 (GRCm39) T910A probably benign Het
Sesn1 A G 10: 41,779,778 (GRCm39) H345R possibly damaging Het
Snx4 T A 16: 33,106,428 (GRCm39) probably null Het
Tchh A G 3: 93,351,439 (GRCm39) E293G unknown Het
Ulk2 T A 11: 61,682,335 (GRCm39) T727S probably benign Het
Usp53 T C 3: 122,729,706 (GRCm39) E756G probably damaging Het
Vmn2r68 G A 7: 84,871,123 (GRCm39) A720V probably benign Het
Vmn2r79 A G 7: 86,645,839 (GRCm39) N56S possibly damaging Het
Washc5 A T 15: 59,235,118 (GRCm39) Y263* probably null Het
Zfp119b A T 17: 56,245,639 (GRCm39) C516S 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
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'- TGGTCATAAGGATGCCCTGTG -3'
(R):5'- TTCTGTCACATGTGGCATGGC -3'

Sequencing Primer
(F):5'- TGGCTAGAGTCACAGCATTC -3'
(R):5'- GGTGCCCTTACCCTCACACAC -3'
Posted On 2014-10-02