Mutagenetix > Incidental Mutation

Incidental Mutation 'R1982:Mroh8'

219872

Institutional Source

Beutler Lab

Gene Symbol

Mroh8

Ensembl Gene

ENSMUSG00000074627

Gene Name

maestro heat-like repeat family member 8

Synonyms

4922505G16Rik

MMRRC Submission

039994-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.898) question?

Stock #

R1982 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

157208550-157279549 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157271975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 132 (V132A)

Ref Sequence

ENSEMBL: ENSMUSP00000124362 (fasta)

Gene Model

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

AlphaFold

E9PYI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143663
AA Change: V132A

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: V132A

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	T	X: 89,931,445 (GRCm38)	V382E	probably damaging	Het
Aatk	G	T	11: 120,013,514 (GRCm38)	P252Q	probably damaging	Het
Adamts4	T	C	1: 171,258,934 (GRCm38)	V765A	probably benign	Het
Agfg2	A	T	5: 137,664,253 (GRCm38)	V184E	possibly damaging	Het
Alas1	A	T	9: 106,238,185 (GRCm38)	I48N	probably damaging	Het
Anks1	T	C	17: 27,985,121 (GRCm38)	V181A	probably damaging	Het
Anxa8	A	T	14: 34,096,570 (GRCm38)	R261S	probably damaging	Het
Aqp4	T	C	18: 15,393,551 (GRCm38)	D291G	probably damaging	Het
Atrn	A	G	2: 130,970,222 (GRCm38)	R696G	probably benign	Het
Barx2	A	C	9: 31,913,012 (GRCm38)	I27S	probably damaging	Het
Btnl1	A	T	17: 34,379,751 (GRCm38)	I114L	possibly damaging	Het
Casq1	C	T	1: 172,215,530 (GRCm38)	A200T	probably damaging	Het
Ccdc33	T	A	9: 58,117,168 (GRCm38)	E225D	probably benign	Het
Cd84	C	A	1: 171,884,585 (GRCm38)		probably null	Het
Ceacam9	T	G	7: 16,725,307 (GRCm38)	L177R	probably benign	Het
Cenpi	T	A	X: 134,318,033 (GRCm38)	F161L	possibly damaging	Het
Cep63	T	C	9: 102,602,880 (GRCm38)	K251E	probably damaging	Het
Cetn3	A	G	13: 81,784,697 (GRCm38)	E25G	probably damaging	Het
Crybg3	T	C	16: 59,544,125 (GRCm38)	D2378G	possibly damaging	Het
Ddx19b	T	C	8: 111,009,343 (GRCm38)	T357A	possibly damaging	Het
Dpep2	A	C	8: 105,989,455 (GRCm38)	Y266*	probably null	Het
Dqx1	G	A	6: 83,058,577 (GRCm38)	D24N	probably damaging	Het
Dsg4	A	T	18: 20,471,212 (GRCm38)	Y912F	probably damaging	Het
Fam71f2	A	G	6: 29,285,922 (GRCm38)	T69A	probably benign	Het
Fezf2	G	T	14: 12,344,405 (GRCm38)	P261T	probably benign	Het
Fmo1	T	C	1: 162,839,756 (GRCm38)	I163M	possibly damaging	Het
Gatad2a	G	A	8: 69,913,132 (GRCm38)	R428*	probably null	Het
Gfpt1	T	A	6: 87,054,630 (GRCm38)	F85I	possibly damaging	Het
Gimap7	A	T	6: 48,724,241 (GRCm38)	I254F	possibly damaging	Het
Glcci1	T	C	6: 8,592,980 (GRCm38)	S261P	probably damaging	Het
Glis3	A	T	19: 28,531,274 (GRCm38)	F437I	probably damaging	Het
Glp1r	C	A	17: 30,925,627 (GRCm38)	S258*	probably null	Het
Gm13023	C	A	4: 143,795,150 (GRCm38)	H445Q	probably benign	Het
Gm7030	T	A	17: 36,128,722 (GRCm38)	D122V	probably damaging	Het
Gpt2	C	T	8: 85,516,203 (GRCm38)	A288V	possibly damaging	Het
Grin2c	G	T	11: 115,260,905 (GRCm38)	S76R	possibly damaging	Het
Guf1	T	A	5: 69,567,226 (GRCm38)	Y447*	probably null	Het
Hectd1	A	C	12: 51,785,841 (GRCm38)	L916V	probably damaging	Het
Hnf4g	A	G	3: 3,638,208 (GRCm38)	K96E	probably damaging	Het
Hsh2d	G	A	8: 72,200,460 (GRCm38)	D229N	probably benign	Het
Ifi207	T	G	1: 173,735,239 (GRCm38)	M114L	probably benign	Het
Ifi35	A	T	11: 101,458,286 (GRCm38)	E252V	probably damaging	Het
Igsf9b	G	A	9: 27,322,239 (GRCm38)	R345H	possibly damaging	Het
Itih3	T	C	14: 30,923,583 (GRCm38)		probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906 (GRCm38)	74	probably benign	Het
Kidins220	A	T	12: 25,051,194 (GRCm38)	M1252L	probably benign	Het
Kifap3	T	A	1: 163,862,022 (GRCm38)	L525*	probably null	Het
Limk2	A	T	11: 3,355,461 (GRCm38)	D35E	probably benign	Het
Lrrc37a	G	A	11: 103,498,966 (GRCm38)	P1878S	probably benign	Het
Mansc4	T	A	6: 147,075,675 (GRCm38)	I148F	probably benign	Het
Mei1	A	G	15: 82,103,312 (GRCm38)	N859S	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm38)	D987G	probably damaging	Het
Npnt	T	C	3: 132,948,132 (GRCm38)	I29M	probably benign	Het
Nrap	T	C	19: 56,384,105 (GRCm38)	D138G	probably damaging	Het
Olfr1	A	T	11: 73,395,092 (GRCm38)	I310N	probably benign	Het
Olfr5	T	C	7: 6,480,932 (GRCm38)	M75V	probably benign	Het
Olfr512	A	G	7: 108,713,695 (GRCm38)	Y102C	probably damaging	Het
Olfr91	T	A	17: 37,093,808 (GRCm38)	E22V	probably damaging	Het
Osbpl5	A	C	7: 143,741,671 (GRCm38)		probably null	Het
Pcna-ps2	T	C	19: 9,283,683 (GRCm38)	V102A	possibly damaging	Het
Pik3c2g	T	C	6: 139,622,548 (GRCm38)	S221P	probably damaging	Het
Plppr3	A	G	10: 79,866,425 (GRCm38)	I271T	probably damaging	Het
Prkar1b	C	T	5: 139,127,643 (GRCm38)	A41T	probably benign	Het
Prkcsh	A	G	9: 22,012,868 (GRCm38)	D458G	probably damaging	Het
Prr14	G	T	7: 127,475,490 (GRCm38)	R398L	possibly damaging	Het
Ptafr	A	G	4: 132,579,985 (GRCm38)	R229G	probably damaging	Het
Rbp3	T	C	14: 33,954,545 (GRCm38)	F150S	probably damaging	Het
Rel	C	T	11: 23,742,761 (GRCm38)	G424D	probably benign	Het
Rlf	T	C	4: 121,150,112 (GRCm38)	Y557C	probably damaging	Het
Samt3	A	C	X: 86,047,134 (GRCm38)	M211L	probably benign	Het
Selenop	A	T	15: 3,275,694 (GRCm38)	I111F	probably damaging	Het
Slc2a2	G	A	3: 28,717,441 (GRCm38)	M173I	probably benign	Het
Slc43a1	G	T	2: 84,856,889 (GRCm38)	G361V	possibly damaging	Het
Slit2	G	A	5: 48,249,836 (GRCm38)	V870M	probably damaging	Het
Ssxb10	A	G	X: 8,331,019 (GRCm38)	D77G	probably benign	Het
Stk32b	T	A	5: 37,649,114 (GRCm38)	I29F	probably damaging	Het
Stra6l	T	A	4: 45,867,237 (GRCm38)	C161*	probably null	Het
Tecpr2	T	A	12: 110,954,785 (GRCm38)	M1264K	probably benign	Het
Tfap2c	A	T	2: 172,557,236 (GRCm38)	I468F	probably damaging	Het
Ticam1	C	T	17: 56,271,555 (GRCm38)	R180H	probably damaging	Het
Tlr4	T	A	4: 66,841,035 (GRCm38)	N688K	probably benign	Het
Tmem35b	A	T	4: 127,126,053 (GRCm38)		probably benign	Het
Ugt2b34	T	C	5: 86,906,313 (GRCm38)	E203G	probably damaging	Het
Vegfa	A	C	17: 46,018,860 (GRCm38)	*393G	probably null	Het
Vmn2r16	T	C	5: 109,364,024 (GRCm38)	V699A	probably benign	Het
Zfp324	T	C	7: 12,971,218 (GRCm38)	S445P	probably damaging	Het
Zfp982	T	A	4: 147,512,592 (GRCm38)	C135*	probably null	Het
Zfp990	A	C	4: 145,536,869 (GRCm38)	N146H	probably damaging	Het
Zfyve26	A	G	12: 79,255,243 (GRCm38)	Y431H	possibly damaging	Het

Other mutations in Mroh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Mroh8	APN	2	157,216,914 (GRCm38)	missense	probably damaging	1.00
IGL00691:Mroh8	APN	2	157,238,307 (GRCm38)	splice site	probably benign
IGL00708:Mroh8	APN	2	157,220,170 (GRCm38)	missense	probably damaging	1.00
IGL01526:Mroh8	APN	2	157,238,312 (GRCm38)	splice site	probably benign
IGL01992:Mroh8	APN	2	157,213,696 (GRCm38)	missense	probably damaging	1.00
IGL02076:Mroh8	APN	2	157,271,962 (GRCm38)	critical splice donor site	probably null
IGL02308:Mroh8	APN	2	157,254,973 (GRCm38)	missense	probably damaging	1.00
IGL02592:Mroh8	APN	2	157,216,969 (GRCm38)	missense	probably damaging	0.96
PIT4378001:Mroh8	UTSW	2	157,228,700 (GRCm38)	missense	possibly damaging	0.73
PIT4449001:Mroh8	UTSW	2	157,225,534 (GRCm38)	missense	probably damaging	1.00
R0039:Mroh8	UTSW	2	157,229,929 (GRCm38)	missense	possibly damaging	0.92
R0039:Mroh8	UTSW	2	157,229,929 (GRCm38)	missense	possibly damaging	0.92
R0107:Mroh8	UTSW	2	157,225,468 (GRCm38)	missense	probably benign	0.01
R0511:Mroh8	UTSW	2	157,229,918 (GRCm38)	missense	probably damaging	1.00
R0523:Mroh8	UTSW	2	157,224,036 (GRCm38)	missense	probably damaging	1.00
R0619:Mroh8	UTSW	2	157,265,081 (GRCm38)	missense	possibly damaging	0.69
R1222:Mroh8	UTSW	2	157,241,854 (GRCm38)	splice site	probably benign
R1418:Mroh8	UTSW	2	157,241,854 (GRCm38)	splice site	probably benign
R1430:Mroh8	UTSW	2	157,269,525 (GRCm38)	missense	possibly damaging	0.69
R1458:Mroh8	UTSW	2	157,221,304 (GRCm38)	missense	probably damaging	1.00
R1509:Mroh8	UTSW	2	157,233,205 (GRCm38)	missense	probably benign	0.14
R1528:Mroh8	UTSW	2	157,230,055 (GRCm38)	missense	probably damaging	1.00
R1703:Mroh8	UTSW	2	157,271,976 (GRCm38)	missense	probably benign	0.01
R1795:Mroh8	UTSW	2	157,269,551 (GRCm38)	missense	probably benign	0.16
R3922:Mroh8	UTSW	2	157,222,811 (GRCm38)	missense	probably benign	0.03
R4024:Mroh8	UTSW	2	157,256,352 (GRCm38)	missense	probably benign	0.32
R4030:Mroh8	UTSW	2	157,213,720 (GRCm38)	missense	probably damaging	1.00
R4200:Mroh8	UTSW	2	157,241,810 (GRCm38)	missense	probably benign	0.10
R4492:Mroh8	UTSW	2	157,258,040 (GRCm38)	missense	probably damaging	1.00
R4900:Mroh8	UTSW	2	157,228,727 (GRCm38)	missense	probably benign	0.05
R5396:Mroh8	UTSW	2	157,228,656 (GRCm38)	missense	possibly damaging	0.92
R5464:Mroh8	UTSW	2	157,221,230 (GRCm38)	missense	probably damaging	1.00
R6008:Mroh8	UTSW	2	157,253,064 (GRCm38)	missense	probably benign	0.40
R6220:Mroh8	UTSW	2	157,233,163 (GRCm38)	missense	probably benign
R6661:Mroh8	UTSW	2	157,225,627 (GRCm38)	missense	probably benign
R7000:Mroh8	UTSW	2	157,216,977 (GRCm38)	missense	probably benign	0.03
R7024:Mroh8	UTSW	2	157,221,263 (GRCm38)	missense	probably benign
R7221:Mroh8	UTSW	2	157,229,917 (GRCm38)	missense	probably benign	0.06
R7549:Mroh8	UTSW	2	157,269,572 (GRCm38)	missense	probably benign	0.01
R7593:Mroh8	UTSW	2	157,229,947 (GRCm38)	missense	probably damaging	1.00
R7604:Mroh8	UTSW	2	157,269,564 (GRCm38)	missense	possibly damaging	0.75
R8316:Mroh8	UTSW	2	157,229,959 (GRCm38)	missense	possibly damaging	0.93
R8371:Mroh8	UTSW	2	157,252,976 (GRCm38)	nonsense	probably null
R8795:Mroh8	UTSW	2	157,225,573 (GRCm38)	missense	probably damaging	0.96
R8797:Mroh8	UTSW	2	157,229,956 (GRCm38)	missense	probably damaging	1.00
R8801:Mroh8	UTSW	2	157,233,166 (GRCm38)	missense	probably damaging	1.00
R8850:Mroh8	UTSW	2	157,241,753 (GRCm38)	missense	probably damaging	1.00
R9002:Mroh8	UTSW	2	157,217,019 (GRCm38)	missense	probably damaging	1.00
R9021:Mroh8	UTSW	2	157,222,867 (GRCm38)	missense	probably benign	0.06
R9110:Mroh8	UTSW	2	157,213,685 (GRCm38)	missense	possibly damaging	0.82
R9189:Mroh8	UTSW	2	157,269,625 (GRCm38)	missense	probably damaging	0.97
R9224:Mroh8	UTSW	2	157,221,149 (GRCm38)	missense	possibly damaging	0.83
R9225:Mroh8	UTSW	2	157,265,090 (GRCm38)	missense	probably damaging	0.99
R9387:Mroh8	UTSW	2	157,256,466 (GRCm38)	missense	possibly damaging	0.75
R9453:Mroh8	UTSW	2	157,230,028 (GRCm38)	missense	possibly damaging	0.55
R9485:Mroh8	UTSW	2	157,229,993 (GRCm38)	missense	probably benign	0.34
R9652:Mroh8	UTSW	2	157,253,050 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCAGTGAGTTCTGTTAGCTGC -3'
(R):5'- CCCAGGCTAGATTGAGAAGG -3'

Sequencing Primer
(F):5'- GCTGCACTTTAAAAGAGACGTC -3'
(R):5'- ACACGTGGGGTTTTCAACAG -3'

Posted On

2014-08-25