Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

IGL02076

Quality Score

Status

Chromosome

Chromosomal Location

157050470-157121469 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 157113882 bp (GRCm39)

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: 8,186,900 (GRCm39)	Y407C	probably damaging	Het
Capn5	T	A	7: 97,780,950 (GRCm39)	K276*	probably null	Het
Cct4	T	C	11: 22,952,394 (GRCm39)	V495A	probably damaging	Het
Dapk3	A	G	10: 81,026,131 (GRCm39)	K141E	probably damaging	Het
Dnah2	T	C	11: 69,313,385 (GRCm39)	N4264S	probably damaging	Het
Dok1	A	G	6: 83,009,812 (GRCm39)	L99P	probably damaging	Het
Ebf3	A	G	7: 136,833,030 (GRCm39)	V215A	possibly damaging	Het
Efnb2	A	G	8: 8,710,488 (GRCm39)	S43P	probably benign	Het
Jhy	G	A	9: 40,828,674 (GRCm39)	Q411*	probably null	Het
Krt73	G	A	15: 101,708,370 (GRCm39)	T229I	probably damaging	Het
Olfm1	A	G	2: 28,112,637 (GRCm39)	T223A	probably damaging	Het
Oprk1	T	A	1: 5,672,512 (GRCm39)	D216E	probably damaging	Het
Or4b1d	T	A	2: 89,969,159 (GRCm39)	E108V	probably damaging	Het
Or8g23	A	G	9: 38,971,881 (GRCm39)	L27P	probably damaging	Het
Pim1	T	A	17: 29,712,777 (GRCm39)	I230N	probably damaging	Het
Ppm1f	A	C	16: 16,732,035 (GRCm39)	T162P	possibly damaging	Het
Rbbp8	T	C	18: 11,838,876 (GRCm39)	Y186H	probably damaging	Het
Sema4a	C	T	3: 88,357,829 (GRCm39)	R225H	probably damaging	Het
Slc15a2	A	C	16: 36,582,743 (GRCm39)	F215C	probably damaging	Het
Slc25a1	A	G	16: 17,745,490 (GRCm39)	C41R	possibly damaging	Het
Stil	C	A	4: 114,880,834 (GRCm39)	H459Q	probably benign	Het
Tbc1d32	A	G	10: 55,964,499 (GRCm39)	I900T	possibly damaging	Het
Tmem33	T	C	5: 67,443,446 (GRCm39)	F208L	probably damaging	Het
Utp25	T	C	1: 192,812,367 (GRCm39)	H31R	probably damaging	Het
Vmn2r72	A	G	7: 85,387,575 (GRCm39)	V663A	probably 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
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
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

2014-05-07