Mutagenetix > Incidental Mutation

Incidental Mutation 'R5786:Maea'

448010

Institutional Source

Beutler Lab

Gene Symbol

Maea

Ensembl Gene

ENSMUSG00000079562

Gene Name

macrophage erythroblast attacher

Synonyms

1110030D19Rik, Gid9

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33492916-33530638 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33526027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 234 (D234E)

Ref Sequence

ENSEMBL: ENSMUSP00000110093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114449]

AlphaFold

Q4VC33

Predicted Effect

probably benign
Transcript: ENSMUST00000114449
AA Change: D234E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000110093
Gene: ENSMUSG00000079562
AA Change: D234E

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

noncoding transcript
Transcript: ENSMUST00000202839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202941

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,945,122 (GRCm39)	D200E	probably damaging	Het
4930578I06Rik	C	A	14: 64,210,691 (GRCm39)	R179L	probably damaging	Het
Abhd5	A	G	9: 122,192,868 (GRCm39)		probably null	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,419,882 (GRCm39)		probably null	Het
Ano5	G	A	7: 51,216,066 (GRCm39)	D348N	possibly damaging	Het
Apob	C	T	12: 8,065,304 (GRCm39)	T4091I	possibly damaging	Het
Avil	G	A	10: 126,852,368 (GRCm39)		probably null	Het
Cacna1a	T	C	8: 85,142,350 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,082,102 (GRCm39)	L436P	probably damaging	Het
Ccdc33	A	G	9: 57,937,235 (GRCm39)	S655P	possibly damaging	Het
Ccr6	T	C	17: 8,475,244 (GRCm39)	S150P	probably damaging	Het
Cd1d1	T	C	3: 86,906,095 (GRCm39)	N60S	probably benign	Het
Ckap5	A	G	2: 91,446,641 (GRCm39)		probably null	Het
Col15a1	A	G	4: 47,280,865 (GRCm39)	E753G	possibly damaging	Het
Col1a2	C	T	6: 4,530,223 (GRCm39)	R699W	unknown	Het
Cracd	T	C	5: 77,014,043 (GRCm39)		probably null	Het
Csf2rb	T	C	15: 78,233,155 (GRCm39)	Y821H	probably damaging	Het
Cyp3a11	A	G	5: 145,799,284 (GRCm39)	I301T	possibly damaging	Het
Dpp3	C	T	19: 4,968,350 (GRCm39)	G241R	possibly damaging	Het
Dpyd	G	T	3: 119,220,886 (GRCm39)	M952I	probably damaging	Het
Dsg3	A	T	18: 20,654,628 (GRCm39)	I111L	possibly damaging	Het
Ect2	A	G	3: 27,201,102 (GRCm39)	F123L	probably damaging	Het
Ehmt2	G	C	17: 35,129,719 (GRCm39)	D961H	probably damaging	Het
Esp1	A	G	17: 41,041,809 (GRCm39)	I34V	probably benign	Het
Fam171b	G	A	2: 83,708,580 (GRCm39)	V361I	probably benign	Het
Flnc	T	A	6: 29,459,536 (GRCm39)	Y2545*	probably null	Het
Fmo4	C	T	1: 162,631,286 (GRCm39)	G227D	probably benign	Het
Grn	C	T	11: 102,324,869 (GRCm39)	Q153*	probably null	Het
H2-DMb1	T	G	17: 34,372,408 (GRCm39)	S12R	possibly damaging	Het
Ica1	G	T	6: 8,672,391 (GRCm39)	N203K	possibly damaging	Het
Kdm4c	C	A	4: 74,277,722 (GRCm39)	T792K	probably damaging	Het
Kif19a	T	A	11: 114,670,049 (GRCm39)	Y81*	probably null	Het
Kifc2	G	T	15: 76,548,578 (GRCm39)	C440F	probably damaging	Het
Lpin2	A	G	17: 71,537,268 (GRCm39)	T234A	probably benign	Het
Lysmd2	C	A	9: 75,542,885 (GRCm39)	P164Q	probably benign	Het
Map4k1	T	A	7: 28,699,445 (GRCm39)	V572E	probably damaging	Het
Med6	C	T	12: 81,620,733 (GRCm39)	G166R	probably null	Het
Mtmr10	T	C	7: 63,987,458 (GRCm39)	I666T	probably damaging	Het
Myh14	T	A	7: 44,262,887 (GRCm39)	K1777M	probably benign	Het
Naip6	G	T	13: 100,436,724 (GRCm39)	Q600K	probably benign	Het
Obscn	A	G	11: 58,923,517 (GRCm39)	S6461P	probably damaging	Het
Or1j4	T	C	2: 36,740,061 (GRCm39)	M1T	probably null	Het
Osbpl7	T	A	11: 96,956,658 (GRCm39)	V567E	probably damaging	Het
Rad51ap2	A	T	12: 11,506,921 (GRCm39)	D281V	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpl24	C	A	16: 55,787,516 (GRCm39)	H59N	possibly damaging	Het
Rtl1	G	A	12: 109,559,053 (GRCm39)	L929F	possibly damaging	Het
Runx3	C	T	4: 134,890,575 (GRCm39)	T159I	probably damaging	Het
Serpine2	T	C	1: 79,794,637 (GRCm39)	I99V	probably benign	Het
Slc12a6	C	A	2: 112,115,067 (GRCm39)	P12Q	probably benign	Het
Slc25a18	T	C	6: 120,769,035 (GRCm39)	L184P	probably damaging	Het
Smg1	T	C	7: 117,812,120 (GRCm39)	D57G	probably benign	Het
Spdye4c	T	A	2: 128,438,761 (GRCm39)	*340K	probably null	Het
Srsf5	G	A	12: 80,996,311 (GRCm39)	E162K	possibly damaging	Het
Ssc5d	T	C	7: 4,939,817 (GRCm39)	V751A	probably benign	Het
Tcf3	T	C	10: 80,255,333 (GRCm39)	N157S	probably benign	Het
Tdrd7	T	C	4: 45,989,082 (GRCm39)	V71A	probably benign	Het
Tex14	T	C	11: 87,405,121 (GRCm39)	C678R	probably damaging	Het
Tgm3	A	T	2: 129,868,704 (GRCm39)	K214*	probably null	Het
Vps53	A	G	11: 75,953,833 (GRCm39)	I659T	probably benign	Het
Zfp597	A	T	16: 3,684,023 (GRCm39)	C244*	probably null	Het
Zfp933	T	A	4: 147,912,864 (GRCm39)		probably null	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
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
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'- CCTTAAAATTGGAGGTTTGGGCC -3'
(R):5'- GCTGAGTAGAACAAGCTATGGC -3'

Sequencing Primer
(F):5'- CCTTAGAGAGAGTCTTCAGCAGC -3'
(R):5'- CTATGGCAGCAGATGGGC -3'

Posted On

2016-12-15