Mutagenetix > Incidental Mutation

Incidental Mutation 'R0039:Mroh8'

18582

Institutional Source

Beutler Lab

Gene Symbol

Mroh8

Ensembl Gene

ENSMUSG00000074627

Gene Name

maestro heat-like repeat family member 8

Synonyms

4922505G16Rik

MMRRC Submission

038333-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R0039 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

157050470-157121469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157071849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 552 (H552R)

Ref Sequence

ENSEMBL: ENSMUSP00000124362 (fasta)

Gene Model

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

AlphaFold

E9PYI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143663
AA Change: H552R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: H552R

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

0.1998

Coding Region Coverage

1x: 82.5%
3x: 74.4%
10x: 54.3%
20x: 37.4%

Validation Efficiency

95% (60/63)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	C	T	12: 52,565,518 (GRCm39)	Q830*	probably null	Het
Atic	A	T	1: 71,617,009 (GRCm39)	E523V	possibly damaging	Het
Cass4	T	A	2: 172,268,900 (GRCm39)	F329L	probably damaging	Het
Cdk17	A	T	10: 93,062,640 (GRCm39)		probably benign	Het
Cep120	C	T	18: 53,819,033 (GRCm39)	R886H	probably benign	Het
Cep170	A	C	1: 176,610,061 (GRCm39)		probably null	Het
Dsg3	A	G	18: 20,654,541 (GRCm39)	K82E	probably benign	Het
Dtd1	C	T	2: 144,588,896 (GRCm39)	R185W	probably damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Hectd1	T	G	12: 51,800,608 (GRCm39)	E2070A	possibly damaging	Het
Ifit1bl2	T	A	19: 34,596,846 (GRCm39)	K257*	probably null	Het
Ighv8-5	T	A	12: 115,031,207 (GRCm39)	T111S	possibly damaging	Het
Lmtk2	G	T	5: 144,103,205 (GRCm39)	L321F	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mfn1	T	C	3: 32,592,416 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Myh2	T	A	11: 67,069,103 (GRCm39)	L304Q	probably damaging	Het
Prune1	T	A	3: 95,169,678 (GRCm39)	T175S	probably damaging	Het
Rdh10	C	T	1: 16,199,508 (GRCm39)	T238I	probably damaging	Het
Rlf	T	A	4: 121,004,039 (GRCm39)	H1647L	possibly damaging	Het
Rreb1	C	T	13: 38,083,613 (GRCm39)	T92M	probably damaging	Het
Scn9a	A	T	2: 66,392,788 (GRCm39)	M268K	probably damaging	Het
Sec16a	A	G	2: 26,313,926 (GRCm39)	V1893A	probably benign	Het
Snd1	T	A	6: 28,745,209 (GRCm39)	L518Q	probably damaging	Het
Stat1	T	A	1: 52,179,819 (GRCm39)	V343D	probably damaging	Het
Topors	A	G	4: 40,262,772 (GRCm39)	S171P	probably damaging	Het
Tubd1	C	T	11: 86,440,221 (GRCm39)	Q82*	probably null	Het
Unc13c	A	G	9: 73,576,847 (GRCm39)		probably benign	Het
Wdr43	G	T	17: 71,960,487 (GRCm39)	G590*	probably null	Het

Other mutations in Mroh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Mroh8	APN	2	157,058,834 (GRCm39)	missense	probably damaging	1.00
IGL00691:Mroh8	APN	2	157,080,227 (GRCm39)	splice site	probably benign
IGL00708:Mroh8	APN	2	157,062,090 (GRCm39)	missense	probably damaging	1.00
IGL01526:Mroh8	APN	2	157,080,232 (GRCm39)	splice site	probably benign
IGL01992:Mroh8	APN	2	157,055,616 (GRCm39)	missense	probably damaging	1.00
IGL02076:Mroh8	APN	2	157,113,882 (GRCm39)	critical splice donor site	probably null
IGL02308:Mroh8	APN	2	157,096,893 (GRCm39)	missense	probably damaging	1.00
IGL02592:Mroh8	APN	2	157,058,889 (GRCm39)	missense	probably damaging	0.96
PIT4378001:Mroh8	UTSW	2	157,070,620 (GRCm39)	missense	possibly damaging	0.73
PIT4449001:Mroh8	UTSW	2	157,067,454 (GRCm39)	missense	probably damaging	1.00
R0039:Mroh8	UTSW	2	157,071,849 (GRCm39)	missense	possibly damaging	0.92
R0107:Mroh8	UTSW	2	157,067,388 (GRCm39)	missense	probably benign	0.01
R0511:Mroh8	UTSW	2	157,071,838 (GRCm39)	missense	probably damaging	1.00
R0523:Mroh8	UTSW	2	157,065,956 (GRCm39)	missense	probably damaging	1.00
R0619:Mroh8	UTSW	2	157,107,001 (GRCm39)	missense	possibly damaging	0.69
R1222:Mroh8	UTSW	2	157,083,774 (GRCm39)	splice site	probably benign
R1418:Mroh8	UTSW	2	157,083,774 (GRCm39)	splice site	probably benign
R1430:Mroh8	UTSW	2	157,111,445 (GRCm39)	missense	possibly damaging	0.69
R1458:Mroh8	UTSW	2	157,063,224 (GRCm39)	missense	probably damaging	1.00
R1509:Mroh8	UTSW	2	157,075,125 (GRCm39)	missense	probably benign	0.14
R1528:Mroh8	UTSW	2	157,071,975 (GRCm39)	missense	probably damaging	1.00
R1703:Mroh8	UTSW	2	157,113,896 (GRCm39)	missense	probably benign	0.01
R1795:Mroh8	UTSW	2	157,111,471 (GRCm39)	missense	probably benign	0.16
R1982:Mroh8	UTSW	2	157,113,895 (GRCm39)	missense	possibly damaging	0.52
R3922:Mroh8	UTSW	2	157,064,731 (GRCm39)	missense	probably benign	0.03
R4024:Mroh8	UTSW	2	157,098,272 (GRCm39)	missense	probably benign	0.32
R4030:Mroh8	UTSW	2	157,055,640 (GRCm39)	missense	probably damaging	1.00
R4200:Mroh8	UTSW	2	157,083,730 (GRCm39)	missense	probably benign	0.10
R4492:Mroh8	UTSW	2	157,099,960 (GRCm39)	missense	probably damaging	1.00
R4900:Mroh8	UTSW	2	157,070,647 (GRCm39)	missense	probably benign	0.05
R5396:Mroh8	UTSW	2	157,070,576 (GRCm39)	missense	possibly damaging	0.92
R5464:Mroh8	UTSW	2	157,063,150 (GRCm39)	missense	probably damaging	1.00
R6008:Mroh8	UTSW	2	157,094,984 (GRCm39)	missense	probably benign	0.40
R6220:Mroh8	UTSW	2	157,075,083 (GRCm39)	missense	probably benign
R6661:Mroh8	UTSW	2	157,067,547 (GRCm39)	missense	probably benign
R7000:Mroh8	UTSW	2	157,058,897 (GRCm39)	missense	probably benign	0.03
R7024:Mroh8	UTSW	2	157,063,183 (GRCm39)	missense	probably benign
R7221:Mroh8	UTSW	2	157,071,837 (GRCm39)	missense	probably benign	0.06
R7549:Mroh8	UTSW	2	157,111,492 (GRCm39)	missense	probably benign	0.01
R7593:Mroh8	UTSW	2	157,071,867 (GRCm39)	missense	probably damaging	1.00
R7604:Mroh8	UTSW	2	157,111,484 (GRCm39)	missense	possibly damaging	0.75
R8316:Mroh8	UTSW	2	157,071,879 (GRCm39)	missense	possibly damaging	0.93
R8371:Mroh8	UTSW	2	157,094,896 (GRCm39)	nonsense	probably null
R8795:Mroh8	UTSW	2	157,067,493 (GRCm39)	missense	probably damaging	0.96
R8797:Mroh8	UTSW	2	157,071,876 (GRCm39)	missense	probably damaging	1.00
R8801:Mroh8	UTSW	2	157,075,086 (GRCm39)	missense	probably damaging	1.00
R8850:Mroh8	UTSW	2	157,083,673 (GRCm39)	missense	probably damaging	1.00
R9002:Mroh8	UTSW	2	157,058,939 (GRCm39)	missense	probably damaging	1.00
R9021:Mroh8	UTSW	2	157,064,787 (GRCm39)	missense	probably benign	0.06
R9110:Mroh8	UTSW	2	157,055,605 (GRCm39)	missense	possibly damaging	0.82
R9189:Mroh8	UTSW	2	157,111,545 (GRCm39)	missense	probably damaging	0.97
R9224:Mroh8	UTSW	2	157,063,069 (GRCm39)	missense	possibly damaging	0.83
R9225:Mroh8	UTSW	2	157,107,010 (GRCm39)	missense	probably damaging	0.99
R9387:Mroh8	UTSW	2	157,098,386 (GRCm39)	missense	possibly damaging	0.75
R9453:Mroh8	UTSW	2	157,071,948 (GRCm39)	missense	possibly damaging	0.55
R9485:Mroh8	UTSW	2	157,071,913 (GRCm39)	missense	probably benign	0.34
R9652:Mroh8	UTSW	2	157,094,970 (GRCm39)	nonsense	probably null

Posted On

2013-03-25