Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02592:Mroh8'

299771

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

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

IGL02592

Quality Score

Status

Chromosome

Chromosomal Location

157050470-157121469 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 157058889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 926 (Y926N)

Ref Sequence

ENSEMBL: ENSMUSP00000124362 (fasta)

Gene Model

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

AlphaFold

E9PYI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000143663
AA Change: Y926N

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: Y926N

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

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadps	G	A	14: 12,473,465 (GRCm38)	R899C	probably damaging	Het
Cass4	T	C	2: 172,258,248 (GRCm39)	L82P	probably benign	Het
Cd53	C	A	3: 106,670,601 (GRCm39)	C144F	probably damaging	Het
Fancc	G	A	13: 63,508,011 (GRCm39)	R175W	probably damaging	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gpr149	T	C	3: 62,511,231 (GRCm39)	D256G	possibly damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Lvrn	T	A	18: 46,983,658 (GRCm39)	C134S	probably damaging	Het
Nfxl1	A	G	5: 72,671,572 (GRCm39)	S896P	probably benign	Het
Orc4	A	T	2: 48,823,090 (GRCm39)		probably null	Het
Pcsk6	T	A	7: 65,618,776 (GRCm39)	H447Q	probably damaging	Het
Rfx6	C	A	10: 51,592,119 (GRCm39)	Q121K	probably damaging	Het
Rnase6	T	C	14: 51,367,982 (GRCm39)	Y125H	probably benign	Het
Sbno1	A	T	5: 124,538,872 (GRCm39)	Y494N	probably damaging	Het
Sppl3	G	A	5: 115,233,970 (GRCm39)	V347M	probably damaging	Het
Tlr12	G	A	4: 128,511,479 (GRCm39)	T257M	probably benign	Het
Tmem132e	A	T	11: 82,325,462 (GRCm39)	D154V	probably damaging	Het
Zfp345	A	G	2: 150,315,229 (GRCm39)	Y103H	probably benign	Het
Zfp947	T	A	17: 22,365,233 (GRCm39)	Q147L	possibly damaging	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
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
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

2015-04-16