Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02076:Mroh8'

185995

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mroh8

Ensembl Gene

ENSMUSG00000074627

Gene Name

maestro heat-like repeat family member 8

Synonyms

4922505G16Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.928) question?

Stock #

IGL02076

Quality Score

Status

Chromosome

Chromosomal Location

157208550-157279549 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 157271962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143663]

AlphaFold

E9PYI4

Predicted Effect

probably null
Transcript: ENSMUST00000143663

SMART Domains

Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627

Domain	Start	End	E-Value	Type
low complexity region	189	200	N/A	INTRINSIC
low complexity region	357	370	N/A	INTRINSIC
SCOP:d1qbkb_	724	1024	8e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150035

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,136,900	Y407C	probably damaging	Het
Capn5	T	A	7: 98,131,743	K276*	probably null	Het
Cct4	T	C	11: 23,002,394	V495A	probably damaging	Het
Dapk3	A	G	10: 81,190,297	K141E	probably damaging	Het
Diexf	T	C	1: 193,130,059	H31R	probably damaging	Het
Dnah2	T	C	11: 69,422,559	N4264S	probably damaging	Het
Dok1	A	G	6: 83,032,831	L99P	probably damaging	Het
Ebf3	A	G	7: 137,231,301	V215A	possibly damaging	Het
Efnb2	A	G	8: 8,660,488	S43P	probably benign	Het
Jhy	G	A	9: 40,917,378	Q411*	probably null	Het
Krt73	G	A	15: 101,799,935	T229I	probably damaging	Het
Olfm1	A	G	2: 28,222,625	T223A	probably damaging	Het
Olfr32	T	A	2: 90,138,815	E108V	probably damaging	Het
Olfr937	A	G	9: 39,060,585	L27P	probably damaging	Het
Oprk1	T	A	1: 5,602,289	D216E	probably damaging	Het
Pim1	T	A	17: 29,493,803	I230N	probably damaging	Het
Ppm1f	A	C	16: 16,914,171	T162P	possibly damaging	Het
Rbbp8	T	C	18: 11,705,819	Y186H	probably damaging	Het
Sema4a	C	T	3: 88,450,522	R225H	probably damaging	Het
Slc15a2	A	C	16: 36,762,381	F215C	probably damaging	Het
Slc25a1	A	G	16: 17,927,626	C41R	possibly damaging	Het
Stil	C	A	4: 115,023,637	H459Q	probably benign	Het
Tbc1d32	A	G	10: 56,088,403	I900T	possibly damaging	Het
Tmem33	T	C	5: 67,286,103	F208L	probably damaging	Het
Vmn2r72	A	G	7: 85,738,367	V663A	probably damaging	Het

Other mutations in Mroh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Mroh8	APN	2	157216914	missense	probably damaging	1.00
IGL00691:Mroh8	APN	2	157238307	splice site	probably benign
IGL00708:Mroh8	APN	2	157220170	missense	probably damaging	1.00
IGL01526:Mroh8	APN	2	157238312	splice site	probably benign
IGL01992:Mroh8	APN	2	157213696	missense	probably damaging	1.00
IGL02308:Mroh8	APN	2	157254973	missense	probably damaging	1.00
IGL02592:Mroh8	APN	2	157216969	missense	probably damaging	0.96
PIT4378001:Mroh8	UTSW	2	157228700	missense	possibly damaging	0.73
PIT4449001:Mroh8	UTSW	2	157225534	missense	probably damaging	1.00
R0039:Mroh8	UTSW	2	157229929	missense	possibly damaging	0.92
R0039:Mroh8	UTSW	2	157229929	missense	possibly damaging	0.92
R0107:Mroh8	UTSW	2	157225468	missense	probably benign	0.01
R0511:Mroh8	UTSW	2	157229918	missense	probably damaging	1.00
R0523:Mroh8	UTSW	2	157224036	missense	probably damaging	1.00
R0619:Mroh8	UTSW	2	157265081	missense	possibly damaging	0.69
R1222:Mroh8	UTSW	2	157241854	splice site	probably benign
R1418:Mroh8	UTSW	2	157241854	splice site	probably benign
R1430:Mroh8	UTSW	2	157269525	missense	possibly damaging	0.69
R1458:Mroh8	UTSW	2	157221304	missense	probably damaging	1.00
R1509:Mroh8	UTSW	2	157233205	missense	probably benign	0.14
R1528:Mroh8	UTSW	2	157230055	missense	probably damaging	1.00
R1703:Mroh8	UTSW	2	157271976	missense	probably benign	0.01
R1795:Mroh8	UTSW	2	157269551	missense	probably benign	0.16
R1982:Mroh8	UTSW	2	157271975	missense	possibly damaging	0.52
R3922:Mroh8	UTSW	2	157222811	missense	probably benign	0.03
R4024:Mroh8	UTSW	2	157256352	missense	probably benign	0.32
R4030:Mroh8	UTSW	2	157213720	missense	probably damaging	1.00
R4200:Mroh8	UTSW	2	157241810	missense	probably benign	0.10
R4492:Mroh8	UTSW	2	157258040	missense	probably damaging	1.00
R4900:Mroh8	UTSW	2	157228727	missense	probably benign	0.05
R5396:Mroh8	UTSW	2	157228656	missense	possibly damaging	0.92
R5464:Mroh8	UTSW	2	157221230	missense	probably damaging	1.00
R6008:Mroh8	UTSW	2	157253064	missense	probably benign	0.40
R6220:Mroh8	UTSW	2	157233163	missense	probably benign
R6661:Mroh8	UTSW	2	157225627	missense	probably benign
R7000:Mroh8	UTSW	2	157216977	missense	probably benign	0.03
R7024:Mroh8	UTSW	2	157221263	missense	probably benign
R7221:Mroh8	UTSW	2	157229917	missense	probably benign	0.06
R7549:Mroh8	UTSW	2	157269572	missense	probably benign	0.01
R7593:Mroh8	UTSW	2	157229947	missense	probably damaging	1.00
R7604:Mroh8	UTSW	2	157269564	missense	possibly damaging	0.75
R8316:Mroh8	UTSW	2	157229959	missense	possibly damaging	0.93
R8371:Mroh8	UTSW	2	157252976	nonsense	probably null
R8795:Mroh8	UTSW	2	157225573	missense	probably damaging	0.96
R8797:Mroh8	UTSW	2	157229956	missense	probably damaging	1.00
R8801:Mroh8	UTSW	2	157233166	missense	probably damaging	1.00
R8850:Mroh8	UTSW	2	157241753	missense	probably damaging	1.00
R9002:Mroh8	UTSW	2	157217019	missense	probably damaging	1.00
R9021:Mroh8	UTSW	2	157222867	missense	probably benign	0.06
R9110:Mroh8	UTSW	2	157213685	missense	possibly damaging	0.82
R9189:Mroh8	UTSW	2	157269625	missense	probably damaging	0.97
R9224:Mroh8	UTSW	2	157221149	missense	possibly damaging	0.83
R9225:Mroh8	UTSW	2	157265090	missense	probably damaging	0.99
R9387:Mroh8	UTSW	2	157256466	missense	possibly damaging	0.75
R9453:Mroh8	UTSW	2	157230028	missense	possibly damaging	0.55

Posted On

2014-05-07