Mutagenetix > Incidental Mutation

Incidental Mutation 'R5703:Mroh7'

451784

Institutional Source

Beutler Lab

Gene Symbol

Mroh7

Ensembl Gene

ENSMUSG00000047502

Gene Name

maestro heat-like repeat family member 7

Synonyms

Heatr8, Gm1027, LOC381538

MMRRC Submission

043183-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5703 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106537614-106588122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106565757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 126 (Y126H)

Ref Sequence

ENSEMBL: ENSMUSP00000117581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106770] [ENSMUST00000145044]

AlphaFold

A2AVR2

Predicted Effect

probably benign
Transcript: ENSMUST00000106770
AA Change: Y491H

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102382
Gene: ENSMUSG00000047502
AA Change: Y491H

Domain	Start	End	E-Value	Type
low complexity region	39	61	N/A	INTRINSIC
low complexity region	318	332	N/A	INTRINSIC
low complexity region	563	573	N/A	INTRINSIC
SCOP:d1b3ua_	634	1218	6e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135000

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145044
AA Change: Y126H

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145374

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,459,640 (GRCm39)	N605I	probably damaging	Het
Btd	C	T	14: 31,389,004 (GRCm39)	R242*	probably null	Het
Cdc42bpg	A	G	19: 6,372,703 (GRCm39)	D1502G	possibly damaging	Het
Chst2	A	G	9: 95,286,985 (GRCm39)	F454L	probably damaging	Het
Col16a1	G	A	4: 129,947,092 (GRCm39)	A146T	probably damaging	Het
Cyp3a11	A	T	5: 145,797,183 (GRCm39)	S399T	probably benign	Het
Dspp	C	T	5: 104,324,917 (GRCm39)	H427Y	possibly damaging	Het
Dtx4	A	T	19: 12,459,574 (GRCm39)	M410K	possibly damaging	Het
Ecpas	A	T	4: 58,877,171 (GRCm39)		probably null	Het
Epb41l2	C	T	10: 25,317,665 (GRCm39)	R61W	probably damaging	Het
Gbp6	T	C	5: 105,421,147 (GRCm39)	K553E	probably benign	Het
Git1	CCG	C	11: 77,395,494 (GRCm39)		probably null	Het
Gm13199	C	T	2: 5,867,259 (GRCm39)		probably benign	Het
Gramd2a	G	A	9: 59,615,299 (GRCm39)	G13R	probably benign	Het
Hoxa2	G	T	6: 52,140,243 (GRCm39)	Q248K	probably damaging	Het
Hycc1	A	T	5: 24,185,577 (GRCm39)		probably null	Het
Krt33b	T	C	11: 99,916,374 (GRCm39)	T228A	probably benign	Het
Loxhd1	A	G	18: 77,444,573 (GRCm39)	E324G	probably damaging	Het
Map3k20	A	G	2: 72,232,514 (GRCm39)	N390S	probably benign	Het
Muc4	G	A	16: 32,555,059 (GRCm39)	W15*	probably null	Het
Ndrg2	T	A	14: 52,147,579 (GRCm39)		probably null	Het
Ntsr1	T	C	2: 180,142,226 (GRCm39)	S6P	probably damaging	Het
Or5m10	T	C	2: 85,717,783 (GRCm39)	I213T	probably benign	Het
Or5p70	G	A	7: 107,994,707 (GRCm39)	V127I	probably benign	Het
Pcdhb6	A	T	18: 37,467,753 (GRCm39)	T225S	probably benign	Het
Rfng	C	A	11: 120,672,842 (GRCm39)	V294L	probably benign	Het
Scml4	C	T	10: 42,741,566 (GRCm39)		probably benign	Het
Slc5a2	A	G	7: 127,869,787 (GRCm39)	I407V	possibly damaging	Het
Strc	T	C	2: 121,201,295 (GRCm39)	T1267A	probably benign	Het
Tanc1	T	C	2: 59,626,341 (GRCm39)	V566A	probably damaging	Het
Tas1r2	T	C	4: 139,394,647 (GRCm39)	S468P	probably damaging	Het
Tenm2	T	A	11: 35,914,626 (GRCm39)	T2304S	probably benign	Het
Tirap	A	T	9: 35,100,054 (GRCm39)	L210Q	probably damaging	Het
Vav3	A	T	3: 109,248,557 (GRCm39)	Q68L	probably benign	Het
Vmn2r54	C	T	7: 12,363,594 (GRCm39)	S433N	probably benign	Het
Wars1	A	T	12: 108,841,047 (GRCm39)	Y244N	probably damaging	Het
Zc3h6	A	G	2: 128,835,372 (GRCm39)		probably benign	Het

Other mutations in Mroh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01722:Mroh7	APN	4	106,560,358 (GRCm39)	missense	probably benign	0.00
IGL01729:Mroh7	APN	4	106,561,402 (GRCm39)	missense	possibly damaging	0.66
IGL01834:Mroh7	APN	4	106,538,071 (GRCm39)	missense	probably benign	0.00
IGL02003:Mroh7	APN	4	106,559,726 (GRCm39)	missense	probably damaging	0.96
IGL02135:Mroh7	APN	4	106,559,707 (GRCm39)	missense	probably damaging	1.00
IGL02335:Mroh7	APN	4	106,564,979 (GRCm39)	missense	probably damaging	1.00
IGL02532:Mroh7	APN	4	106,577,788 (GRCm39)	missense	probably benign	0.04
IGL02896:Mroh7	APN	4	106,557,013 (GRCm39)	missense	possibly damaging	0.94
IGL03066:Mroh7	APN	4	106,549,595 (GRCm39)	missense	possibly damaging	0.85
IGL03298:Mroh7	APN	4	106,571,288 (GRCm39)	nonsense	probably null
holy	UTSW	4	106,567,152 (GRCm39)	splice site	probably null
moley	UTSW	4	106,551,509 (GRCm39)	splice site	probably null
P0016:Mroh7	UTSW	4	106,565,054 (GRCm39)	critical splice acceptor site	probably null
R0019:Mroh7	UTSW	4	106,578,623 (GRCm39)	missense	probably benign	0.07
R0094:Mroh7	UTSW	4	106,560,381 (GRCm39)	missense	probably damaging	0.98
R0105:Mroh7	UTSW	4	106,568,467 (GRCm39)	missense	possibly damaging	0.49
R0105:Mroh7	UTSW	4	106,568,467 (GRCm39)	missense	possibly damaging	0.49
R0515:Mroh7	UTSW	4	106,548,861 (GRCm39)	missense	probably benign	0.01
R0828:Mroh7	UTSW	4	106,557,073 (GRCm39)	missense	probably damaging	0.99
R0831:Mroh7	UTSW	4	106,537,990 (GRCm39)	missense	possibly damaging	0.92
R1107:Mroh7	UTSW	4	106,564,791 (GRCm39)	splice site	probably null
R1301:Mroh7	UTSW	4	106,577,692 (GRCm39)	missense	probably damaging	0.99
R1456:Mroh7	UTSW	4	106,552,338 (GRCm39)	splice site	probably benign
R1491:Mroh7	UTSW	4	106,560,255 (GRCm39)	missense	probably benign	0.11
R1540:Mroh7	UTSW	4	106,560,273 (GRCm39)	missense	probably benign	0.11
R1560:Mroh7	UTSW	4	106,568,451 (GRCm39)	missense	possibly damaging	0.78
R1645:Mroh7	UTSW	4	106,577,865 (GRCm39)	missense	probably benign	0.19
R1804:Mroh7	UTSW	4	106,551,589 (GRCm39)	missense	possibly damaging	0.76
R2162:Mroh7	UTSW	4	106,557,378 (GRCm39)	missense	probably damaging	0.96
R2265:Mroh7	UTSW	4	106,578,124 (GRCm39)	missense	probably benign	0.01
R2866:Mroh7	UTSW	4	106,548,287 (GRCm39)	missense	probably damaging	1.00
R3716:Mroh7	UTSW	4	106,561,407 (GRCm39)	missense	probably benign	0.25
R3718:Mroh7	UTSW	4	106,561,407 (GRCm39)	missense	probably benign	0.25
R4530:Mroh7	UTSW	4	106,577,634 (GRCm39)	missense	possibly damaging	0.71
R4661:Mroh7	UTSW	4	106,548,710 (GRCm39)	critical splice donor site	probably null
R4706:Mroh7	UTSW	4	106,548,821 (GRCm39)	missense	possibly damaging	0.86
R4910:Mroh7	UTSW	4	106,567,152 (GRCm39)	splice site	probably null
R4965:Mroh7	UTSW	4	106,548,184 (GRCm39)	missense	possibly damaging	0.77
R4969:Mroh7	UTSW	4	106,538,070 (GRCm39)	missense	probably benign
R4971:Mroh7	UTSW	4	106,548,749 (GRCm39)	missense	probably benign	0.04
R5083:Mroh7	UTSW	4	106,547,515 (GRCm39)	missense	probably benign	0.03
R5207:Mroh7	UTSW	4	106,578,583 (GRCm39)	missense	probably damaging	0.97
R5364:Mroh7	UTSW	4	106,548,840 (GRCm39)	missense	probably benign	0.10
R5392:Mroh7	UTSW	4	106,568,448 (GRCm39)	critical splice donor site	probably null
R5630:Mroh7	UTSW	4	106,577,764 (GRCm39)	missense	possibly damaging	0.71
R5691:Mroh7	UTSW	4	106,559,815 (GRCm39)	missense	probably damaging	0.96
R5707:Mroh7	UTSW	4	106,539,082 (GRCm39)	missense	possibly damaging	0.73
R5919:Mroh7	UTSW	4	106,551,509 (GRCm39)	splice site	probably null
R5979:Mroh7	UTSW	4	106,578,123 (GRCm39)	missense	probably benign	0.00
R6479:Mroh7	UTSW	4	106,560,385 (GRCm39)	missense	possibly damaging	0.75
R6520:Mroh7	UTSW	4	106,578,460 (GRCm39)	missense	probably benign	0.00
R6657:Mroh7	UTSW	4	106,559,697 (GRCm39)	nonsense	probably null
R6732:Mroh7	UTSW	4	106,537,910 (GRCm39)	frame shift	probably null
R6817:Mroh7	UTSW	4	106,571,312 (GRCm39)	missense	probably benign	0.00
R6980:Mroh7	UTSW	4	106,557,434 (GRCm39)	missense	probably benign	0.05
R7062:Mroh7	UTSW	4	106,541,177 (GRCm39)	missense	probably damaging	1.00
R7116:Mroh7	UTSW	4	106,568,517 (GRCm39)	missense	probably benign	0.07
R7134:Mroh7	UTSW	4	106,577,791 (GRCm39)	missense	probably damaging	0.99
R7169:Mroh7	UTSW	4	106,548,836 (GRCm39)	missense	probably damaging	0.99
R7419:Mroh7	UTSW	4	106,541,115 (GRCm39)	missense	probably benign
R7516:Mroh7	UTSW	4	106,548,316 (GRCm39)	missense	probably benign	0.00
R7525:Mroh7	UTSW	4	106,566,899 (GRCm39)	missense	probably benign	0.22
R7540:Mroh7	UTSW	4	106,577,595 (GRCm39)	missense	possibly damaging	0.85
R7849:Mroh7	UTSW	4	106,578,287 (GRCm39)	missense	probably benign
R7920:Mroh7	UTSW	4	106,564,773 (GRCm39)	missense	probably benign
R7998:Mroh7	UTSW	4	106,568,478 (GRCm39)	missense	probably benign	0.02
R8026:Mroh7	UTSW	4	106,578,634 (GRCm39)	missense	probably benign	0.01
R8122:Mroh7	UTSW	4	106,559,726 (GRCm39)	missense	probably damaging	0.96
R8249:Mroh7	UTSW	4	106,578,409 (GRCm39)	missense	probably benign	0.00
R9188:Mroh7	UTSW	4	106,566,789 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACCTCCCACTTGTATGAAGC -3'
(R):5'- CAGGCGTGCTGTATAATAGGTAGG -3'

Sequencing Primer
(F):5'- ACTTGTATGAAGCCATTTTCCTAC -3'
(R):5'- CAGATAAGATAGCGTCTGGGTTC -3'

Posted On

2017-01-03