Mutagenetix > Incidental Mutations

Incidental Mutation 'R6220:Mroh8'

503934

Institutional Source

Beutler Lab

Gene Symbol

Mroh8

Ensembl Gene

ENSMUSG00000074627

Gene Name

maestro heat-like repeat family member 8

Synonyms

4922505G16Rik

MMRRC Submission

044352-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157208550-157279549 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157233163 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 471 (I471T)

Ref Sequence

ENSEMBL: ENSMUSP00000124362 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000143663
AA Change: I471T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: I471T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	T	C	19: 45,846,115	E618G	possibly damaging	Het
Abhd16b	A	G	2: 181,493,785	D160G	probably damaging	Het
Acap1	A	G	11: 69,889,679	F15S	probably damaging	Het
Adam30	A	T	3: 98,161,309	S153C	probably damaging	Het
Afp	A	T	5: 90,504,410	D420V	possibly damaging	Het
Ak9	T	A	10: 41,370,099	H729Q	unknown	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bcr	A	G	10: 75,062,292	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,633,225	R825W	probably damaging	Het
Ctns	T	C	11: 73,193,128	T23A	probably benign	Het
Ddx54	T	A	5: 120,620,689	N332K	probably benign	Het
Dysf	T	A	6: 84,149,745	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,134,500	M172L	probably benign	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Filip1l	T	A	16: 57,569,989	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,948	T716K	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm10645	A	G	8: 83,165,757		probably benign	Het
Gm10735	T	C	13: 113,041,496		probably benign	Het
Gm4847	A	T	1: 166,634,972	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,690,790	L388P	probably damaging	Het
Heatr5b	A	G	17: 78,773,677	L1382P	probably damaging	Het
Herc1	A	G	9: 66,433,788	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,729,546	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,262,718	N96I	probably damaging	Het
Isl1	T	C	13: 116,303,267	T182A	probably benign	Het
Jph4	T	C	14: 55,110,085	E421G	probably benign	Het
Lrrc45	T	C	11: 120,719,527	I488T	probably benign	Het
Ms4a2	A	T	19: 11,617,563	D96E	probably damaging	Het
Mst1r	T	A	9: 107,907,348	N68K	probably benign	Het
Myo18b	A	G	5: 112,757,507	M2075T	possibly damaging	Het
Neb	T	C	2: 52,270,972	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,153,971		probably null	Het
Nlrp1a	C	A	11: 71,142,338	S10I	probably benign	Het
Npas2	A	T	1: 39,336,061	T487S	probably benign	Het
Nrxn1	G	C	17: 91,088,476	T84R	probably benign	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,745,251	C921R	probably damaging	Het
Pcdha9	A	G	18: 36,998,478	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,603,203	R315*	probably null	Het
Rasgrp1	C	T	2: 117,284,929	W726*	probably null	Het
Rassf8	G	A	6: 145,817,133	R402H	probably damaging	Het
Rev3l	T	A	10: 39,822,779	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,149,551	V349G	probably damaging	Het
Rps18	A	T	17: 33,955,136	V15E	probably damaging	Het
Rptor	A	T	11: 119,897,442	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 94,658,750	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,729	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,114,329	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,439,021	M295K	possibly damaging	Het
Sv2c	T	C	13: 95,976,626	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,875,201	W252*	probably null	Het
Tes	T	A	6: 17,086,196	C29*	probably null	Het
Thsd4	A	G	9: 59,982,747	W856R	probably damaging	Het
Treml4	A	T	17: 48,264,848	D93V	possibly damaging	Het
Trim66	T	C	7: 109,483,093	T218A	probably damaging	Het
Tssk5	T	C	15: 76,373,773	D128G	probably damaging	Het
Ubr3	T	A	2: 70,020,475	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,053,568	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,479,938	D86E	probably benign	Het
Zfp184	T	G	13: 21,960,207	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,999,404	F341L	probably benign	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
IGL02076:Mroh8	APN	2	157271962	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTTGTCGTATTTAGGCAAGTTC -3'
(R):5'- AACCGATGTCTTCTGGCAGG -3'

Sequencing Primer
(F):5'- CAAGTTCTCTTGGTGTTGGGAAAAG -3'
(R):5'- GCAGGTGGGGAGAGACTTTC -3'

Posted On

2018-02-27