Mutagenetix > Incidental Mutation

Incidental Mutation 'R6731:Mroh6'

530080

Institutional Source

Beutler Lab

Gene Symbol

Mroh6

Ensembl Gene

ENSMUSG00000098678

Gene Name

maestro heat-like repeat family member 6

Synonyms

Gm19570

MMRRC Submission

044849-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R6731 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75755986-75760619 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75760341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 78 (T78A)

Ref Sequence

ENSEMBL: ENSMUSP00000139029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023237] [ENSMUST00000184858] [ENSMUST00000229571]

AlphaFold

V9GX81

Predicted Effect

probably benign
Transcript: ENSMUST00000023237

SMART Domains

Protein: ENSMUSP00000023237
Gene: ENSMUSG00000022574

Domain	Start	End	E-Value	Type
PDB:4MZY\|A	16	522	2e-70	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000184858
AA Change: T78A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139029
Gene: ENSMUSG00000098678
AA Change: T78A

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
low complexity region	131	140	N/A	INTRINSIC
low complexity region	169	183	N/A	INTRINSIC
SCOP:d1qbkb_	366	704	1e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230739

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	G	A	8: 124,619,956 (GRCm39)	T128I	probably damaging	Het
Ahnak	T	A	19: 8,988,926 (GRCm39)	D3403E	possibly damaging	Het
Aldoc	T	A	11: 78,216,918 (GRCm39)	D319E	probably benign	Het
Ank3	T	A	10: 69,849,858 (GRCm39)	D1108E	possibly damaging	Het
Ankrd7	G	A	6: 18,866,653 (GRCm39)	G58S	probably damaging	Het
Ass1	A	T	2: 31,404,796 (GRCm39)	Y359F	probably damaging	Het
B3gnt2	G	T	11: 22,786,888 (GRCm39)	S100*	probably null	Het
Cd46	T	C	1: 194,765,775 (GRCm39)		probably null	Het
Chst5	G	T	8: 112,616,676 (GRCm39)	R315S	probably benign	Het
Cps1	T	C	1: 67,200,030 (GRCm39)	S393P	probably damaging	Het
Dis3l	T	C	9: 64,217,720 (GRCm39)		probably null	Het
Fgg	T	C	3: 82,920,208 (GRCm39)	F329S	probably damaging	Het
Hsp90b1	T	C	10: 86,537,769 (GRCm39)	T179A	probably benign	Het
Kat2a	A	T	11: 100,599,099 (GRCm39)	M559K	probably damaging	Het
Klhl41	T	C	2: 69,505,044 (GRCm39)	I449T	probably damaging	Het
Lama5	A	T	2: 179,830,367 (GRCm39)	I1880N	probably benign	Het
Lcp1	A	G	14: 75,443,629 (GRCm39)	D215G	probably damaging	Het
Lrch3	A	G	16: 32,770,790 (GRCm39)	T131A	probably damaging	Het
Naa15	T	G	3: 51,363,294 (GRCm39)	V326G	probably damaging	Het
Nalcn	T	A	14: 123,837,346 (GRCm39)	Q6L	probably benign	Het
Nipbl	T	A	15: 8,352,074 (GRCm39)	I1863L	probably damaging	Het
Obi1	C	T	14: 104,716,910 (GRCm39)	V488I	probably benign	Het
Os9	C	T	10: 126,934,412 (GRCm39)	G408D	probably benign	Het
Pcbp2	T	C	15: 102,397,225 (GRCm39)	S237P	probably damaging	Het
Pcdhb10	G	A	18: 37,546,529 (GRCm39)	R535H	probably benign	Het
Pex5l	A	T	3: 33,012,947 (GRCm39)	I320K	probably damaging	Het
Pgm2	T	C	5: 64,258,318 (GRCm39)	F101S	probably benign	Het
Phf8-ps	A	G	17: 33,285,200 (GRCm39)	V534A	probably benign	Het
Poc1b	T	A	10: 98,988,733 (GRCm39)	D207E	probably null	Het
Pou6f1	T	C	15: 100,477,764 (GRCm39)	I460V	possibly damaging	Het
Rnf17	A	T	14: 56,761,807 (GRCm39)	Q1623H	possibly damaging	Het
Rpap1	T	C	2: 119,608,777 (GRCm39)	N195S	probably benign	Het
Sacs	C	A	14: 61,418,149 (GRCm39)		probably null	Het
Scube2	G	A	7: 109,409,944 (GRCm39)	T643M	probably damaging	Het
Sele	C	T	1: 163,881,242 (GRCm39)	L481F	probably damaging	Het
Stk32a	A	G	18: 43,438,143 (GRCm39)	Y214C	probably damaging	Het
Tex44	T	A	1: 86,354,207 (GRCm39)	S39T	probably benign	Het
Tmem135	A	T	7: 88,893,172 (GRCm39)	M140K	possibly damaging	Het
Tox2	A	G	2: 163,162,297 (GRCm39)	Y354C	probably damaging	Het
Trim21	A	T	7: 102,208,419 (GRCm39)	F433L	probably damaging	Het
Trim24	T	C	6: 37,920,420 (GRCm39)	F406L	probably damaging	Het
Ubr1	G	C	2: 120,786,121 (GRCm39)	H166Q	probably null	Het
Wnt16	T	A	6: 22,297,891 (GRCm39)	Y252*	probably null	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zfp141	T	C	7: 42,138,924 (GRCm39)	D36G	probably damaging	Het
Zfp729a	C	T	13: 67,768,265 (GRCm39)	V655I	probably benign	Het
Zfp974	A	T	7: 27,611,074 (GRCm39)	V217E	possibly damaging	Het

Other mutations in Mroh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2484:Mroh6	UTSW	15	75,756,177 (GRCm39)	missense	probably benign	0.00
R5237:Mroh6	UTSW	15	75,757,840 (GRCm39)	missense	possibly damaging	0.62
R5269:Mroh6	UTSW	15	75,757,639 (GRCm39)	missense	probably damaging	0.99
R5274:Mroh6	UTSW	15	75,756,849 (GRCm39)	missense	possibly damaging	0.90
R5663:Mroh6	UTSW	15	75,760,437 (GRCm39)	missense	probably benign
R5961:Mroh6	UTSW	15	75,759,617 (GRCm39)	nonsense	probably null
R6146:Mroh6	UTSW	15	75,758,486 (GRCm39)	missense	possibly damaging	0.88
R6276:Mroh6	UTSW	15	75,757,549 (GRCm39)	missense	probably damaging	0.99
R7779:Mroh6	UTSW	15	75,760,505 (GRCm39)	missense	possibly damaging	0.85
R7790:Mroh6	UTSW	15	75,756,089 (GRCm39)	missense	probably benign
R8725:Mroh6	UTSW	15	75,756,563 (GRCm39)	missense	possibly damaging	0.94
R9455:Mroh6	UTSW	15	75,759,905 (GRCm39)	missense	probably benign	0.08
Z1177:Mroh6	UTSW	15	75,759,667 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTCAGGACTCCTCAATG -3'
(R):5'- GTAGGAACACTATGGCTGGG -3'

Sequencing Primer
(F):5'- GGACTCCTCAATGCCCCC -3'
(R):5'- TGGGCTCCCTAACTCTGACAG -3'

Posted On

2018-08-01