Mutagenetix > Incidental Mutation

Incidental Mutation 'R1576:Maea'

171157

Institutional Source

Beutler Lab

Gene Symbol

Maea

Ensembl Gene

ENSMUSG00000079562

Gene Name

macrophage erythroblast attacher

Synonyms

1110030D19Rik, Gid9

MMRRC Submission

039614-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1576 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

33492916-33530638 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33520040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 147 (D147G)

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: D153G

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110093
Gene: ENSMUSG00000079562
AA Change: D153G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000200716
AA Change: D147G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144584
Gene: ENSMUSG00000079562
AA Change: D147G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202941

Meta Mutation Damage Score

0.5581

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.1%

Validation Efficiency

100% (49/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	G	A	8: 23,298,483 (GRCm39)		probably benign	Het
Apol11a	T	A	15: 77,401,131 (GRCm39)	I206N	probably damaging	Het
Arfgap3	A	G	15: 83,197,764 (GRCm39)	S331P	possibly damaging	Het
Arhgef16	A	C	4: 154,375,769 (GRCm39)	L75R	probably damaging	Het
Cfi	T	C	3: 129,666,699 (GRCm39)	V474A	probably damaging	Het
Dhx8	T	C	11: 101,643,145 (GRCm39)	V739A	probably damaging	Het
Dpy19l2	T	A	9: 24,495,798 (GRCm39)	H640L	probably benign	Het
Eif4g3	T	A	4: 137,824,181 (GRCm39)	M57K	probably damaging	Het
Emilin2	A	G	17: 71,562,112 (GRCm39)		probably null	Het
Epc1	T	C	18: 6,452,366 (GRCm39)	E281G	possibly damaging	Het
Fancd2	G	T	6: 113,555,366 (GRCm39)	S1125I	probably damaging	Het
Fh1	G	A	1: 175,435,385 (GRCm39)	P366L	probably null	Het
Gata3	A	T	2: 9,868,007 (GRCm39)	S316T	probably damaging	Het
Hmcn1	A	T	1: 150,532,992 (GRCm39)	S3064T	possibly damaging	Het
Inpp5d	A	T	1: 87,597,407 (GRCm39)	T193S	probably benign	Het
Inpp5d	A	T	1: 87,609,280 (GRCm39)	I277F	probably damaging	Het
Itga5	T	C	15: 103,260,044 (GRCm39)	D616G	probably damaging	Het
Jade1	T	A	3: 41,546,242 (GRCm39)	V89E	probably damaging	Het
Lamb2	T	C	9: 108,357,506 (GRCm39)	S81P	probably damaging	Het
Lrrc19	G	A	4: 94,527,590 (GRCm39)	P207L	probably damaging	Het
Muc6	T	A	7: 141,214,437 (GRCm39)	E2767V	possibly damaging	Het
Myom2	A	G	8: 15,134,556 (GRCm39)	Y453C	probably damaging	Het
Naip2	G	A	13: 100,291,537 (GRCm39)		probably benign	Het
Naip2	A	T	13: 100,291,529 (GRCm39)	D1136E	probably benign	Het
Nap1l1	A	G	10: 111,330,681 (GRCm39)	D362G	probably damaging	Het
Nap1l4	C	T	7: 143,091,953 (GRCm39)		probably null	Het
Nudt21	A	C	8: 94,755,461 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,310 (GRCm39)	N475D	probably benign	Het
Pcdhb8	A	G	18: 37,489,756 (GRCm39)	D478G	probably damaging	Het
Pla2g4d	A	G	2: 120,114,648 (GRCm39)	S28P	probably damaging	Het
Polr2j	C	A	5: 136,148,882 (GRCm39)	N29K	probably damaging	Het
Ppp2r2a	A	G	14: 67,276,318 (GRCm39)		probably benign	Het
Ptprk	A	G	10: 28,427,647 (GRCm39)	D742G	probably damaging	Het
Pum2	A	G	12: 8,763,524 (GRCm39)	D227G	probably benign	Het
Rfxank	C	A	8: 70,586,953 (GRCm39)	R221L	possibly damaging	Het
Shank3	C	A	15: 89,387,866 (GRCm39)	Q317K	probably benign	Het
Slc22a17	A	G	14: 55,145,447 (GRCm39)	V460A	probably damaging	Het
Slc39a11	G	T	11: 113,450,361 (GRCm39)	D41E	probably damaging	Het
Spag17	T	C	3: 99,846,679 (GRCm39)	S68P	possibly damaging	Het
Sstr5	C	T	17: 25,710,272 (GRCm39)	C319Y	possibly damaging	Het
Stk17b	G	T	1: 53,796,749 (GRCm39)	D339E	probably damaging	Het
Tagln2	A	G	1: 172,332,788 (GRCm39)	D25G	probably benign	Het
Ttn	C	T	2: 76,625,194 (GRCm39)	V13417I	probably benign	Het
Vps50	A	G	6: 3,545,568 (GRCm39)	E334G	possibly damaging	Het
Zfp316	T	C	5: 143,249,849 (GRCm39)	E138G	unknown	Het
Zfp879	T	A	11: 50,724,376 (GRCm39)	T227S	probably benign	Het

Other mutations in Maea

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CAGTAGGCATCTGCCATATGTCAGC -3'
(R):5'- TCCTCCAATAGAGACCCGTCCATTC -3'

Sequencing Primer
(F):5'- GCCATATGTCAGCTTCCCAG -3'
(R):5'- CGTCCATTCCCACCAGG -3'

Posted On

2014-04-13