Mutagenetix > Incidental Mutation

Incidental Mutation 'R5031:Mroh2a'

452818

Institutional Source

Beutler Lab

Gene Symbol

Mroh2a

Ensembl Gene

ENSMUSG00000079429

Gene Name

maestro heat-like repeat family member 2A

Synonyms

Heatr7b1, ENSMUSG00000044873, OTTMUSG00000020804

MMRRC Submission

042622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R5031 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

88226986-88262289 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

GCCC to GC at 88232257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061013] [ENSMUST00000113130]

AlphaFold

D3Z750

Predicted Effect

probably null
Transcript: ENSMUST00000061013

SMART Domains

Protein: ENSMUSP00000130508
Gene: ENSMUSG00000079429

Domain	Start	End	E-Value	Type
low complexity region	9	26	N/A	INTRINSIC
low complexity region	99	112	N/A	INTRINSIC
low complexity region	1235	1248	N/A	INTRINSIC
SCOP:d1jdha_	1371	1669	9e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113130

SMART Domains

Protein: ENSMUSP00000108755
Gene: ENSMUSG00000079429

Domain	Start	End	E-Value	Type
low complexity region	9	26	N/A	INTRINSIC
low complexity region	99	112	N/A	INTRINSIC
low complexity region	1232	1245	N/A	INTRINSIC
SCOP:d1gw5a_	1446	1671	6e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148474

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 89.9%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,664,514 (GRCm38)	N136S	probably damaging	Het
Abca13	A	T	11: 9,297,678 (GRCm38)	N2475I	probably damaging	Het
Acnat2	T	C	4: 49,380,631 (GRCm38)	K231R	probably damaging	Het
Ank1	C	T	8: 23,099,680 (GRCm38)	P599L	probably damaging	Het
Arhgef19	A	G	4: 141,250,810 (GRCm38)	E580G	probably damaging	Het
Atr	A	G	9: 95,865,702 (GRCm38)	K346E	probably damaging	Het
AU021092	T	C	16: 5,212,604 (GRCm38)	K309E	probably damaging	Het
Baz2b	T	C	2: 59,912,807 (GRCm38)	R1607G	probably benign	Het
Cct8	C	T	16: 87,487,538 (GRCm38)	V254M	probably damaging	Het
Cdca2	T	A	14: 67,713,153 (GRCm38)	I110F	probably damaging	Het
Csmd3	A	T	15: 47,659,192 (GRCm38)	C2694S	probably damaging	Het
Dmkn	A	G	7: 30,764,236 (GRCm38)	I105V	probably benign	Het
Dock1	A	G	7: 135,152,246 (GRCm38)	D1584G	probably benign	Het
Epg5	G	A	18: 78,028,948 (GRCm38)	V2392I	probably benign	Het
Gm4787	G	C	12: 81,377,830 (GRCm38)	T518S	probably benign	Het
Gsap	G	A	5: 21,242,826 (GRCm38)	S294N	possibly damaging	Het
Hectd2	A	G	19: 36,599,604 (GRCm38)	N142D	probably damaging	Het
Hmcn1	A	G	1: 150,588,257 (GRCm38)	C5091R	probably damaging	Het
Ifitm5	G	A	7: 140,950,104 (GRCm38)	R36*	probably null	Het
Ints2	G	A	11: 86,256,200 (GRCm38)	P40L	probably damaging	Het
Irs1	A	T	1: 82,286,967 (GRCm38)	L1176*	probably null	Het
Klhl29	C	T	12: 5,091,334 (GRCm38)	R550Q	probably benign	Het
Kyat1	A	G	2: 30,188,090 (GRCm38)	M134T	probably damaging	Het
Lrrk2	A	T	15: 91,700,619 (GRCm38)	N384Y	possibly damaging	Het
Magel2	T	C	7: 62,380,104 (GRCm38)	S919P	unknown	Het
Mettl16	A	T	11: 74,802,999 (GRCm38)	I279F	probably benign	Het
Mrgpra1	A	T	7: 47,335,237 (GRCm38)	Y231*	probably null	Het
Mut	T	C	17: 40,938,827 (GRCm38)	F231S	possibly damaging	Het
Mvp	A	C	7: 126,993,616 (GRCm38)	Y374*	probably null	Het
Nabp2	G	A	10: 128,409,628 (GRCm38)		probably benign	Het
Nos1	C	T	5: 117,879,313 (GRCm38)	P247L	probably benign	Het
Olfr1015	T	A	2: 85,785,718 (GRCm38)	L69*	probably null	Het
Olfr1115	C	A	2: 87,252,082 (GRCm38)	F48L	probably benign	Het
Pik3cb	C	T	9: 99,071,408 (GRCm38)	D441N	probably damaging	Het
Qrich1	C	T	9: 108,541,736 (GRCm38)	P464S	possibly damaging	Het
Rab17	A	T	1: 90,960,138 (GRCm38)		probably null	Het
Rspo3	A	T	10: 29,506,447 (GRCm38)	L77H	probably damaging	Het
Spn	G	T	7: 127,137,230 (GRCm38)	T35K	probably benign	Het
Sult1d1	T	A	5: 87,559,844 (GRCm38)	Y139F	possibly damaging	Het
Tbc1d32	C	A	10: 56,123,531 (GRCm38)	Q848H	probably damaging	Het
Tcaf3	A	G	6: 42,596,933 (GRCm38)	V115A	probably benign	Het
Tram1l1	T	A	3: 124,321,644 (GRCm38)	L151*	probably null	Het
Trappc12	T	A	12: 28,692,513 (GRCm38)	I682L	possibly damaging	Het
Trav6d-4	A	C	14: 52,753,599 (GRCm38)	T31P	probably damaging	Het
Trpm8	A	G	1: 88,348,188 (GRCm38)	T503A	probably benign	Het
Virma	T	A	4: 11,542,116 (GRCm38)	Y1567*	probably null	Het
Vmn1r228	T	A	17: 20,776,681 (GRCm38)	K192*	probably null	Het
Zfp521	T	A	18: 13,844,273 (GRCm38)	T1028S	possibly damaging	Het
Zfp583	T	A	7: 6,317,398 (GRCm38)	Q205L	probably benign	Het

Other mutations in Mroh2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Mroh2a	APN	1	88,244,970 (GRCm38)	missense	probably benign	0.03
IGL00990:Mroh2a	APN	1	88,234,120 (GRCm38)	missense	possibly damaging	0.76
IGL00990:Mroh2a	APN	1	88,230,746 (GRCm38)	missense	probably damaging	0.99
IGL03097:Mroh2a	UTSW	1	88,235,376 (GRCm38)	missense	probably benign	0.30
R0032:Mroh2a	UTSW	1	88,256,166 (GRCm38)	frame shift	probably null
R0068:Mroh2a	UTSW	1	88,256,166 (GRCm38)	frame shift	probably null
R0139:Mroh2a	UTSW	1	88,257,802 (GRCm38)	missense	probably damaging	1.00
R0197:Mroh2a	UTSW	1	88,246,042 (GRCm38)	missense	probably damaging	1.00
R0242:Mroh2a	UTSW	1	88,242,420 (GRCm38)	missense	possibly damaging	0.77
R0322:Mroh2a	UTSW	1	88,230,680 (GRCm38)	nonsense	probably null
R0374:Mroh2a	UTSW	1	88,242,420 (GRCm38)	missense	possibly damaging	0.77
R0387:Mroh2a	UTSW	1	88,246,042 (GRCm38)	missense	probably damaging	1.00
R0412:Mroh2a	UTSW	1	88,235,216 (GRCm38)	missense	probably benign	0.01
R0536:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R0548:Mroh2a	UTSW	1	88,242,420 (GRCm38)	missense	possibly damaging	0.77
R0580:Mroh2a	UTSW	1	88,243,950 (GRCm38)	missense	probably damaging	1.00
R0581:Mroh2a	UTSW	1	88,256,166 (GRCm38)	frame shift	probably null
R0583:Mroh2a	UTSW	1	88,256,166 (GRCm38)	frame shift	probably null
R0613:Mroh2a	UTSW	1	88,243,950 (GRCm38)	missense	probably damaging	1.00
R0652:Mroh2a	UTSW	1	88,230,680 (GRCm38)	nonsense	probably null
R0657:Mroh2a	UTSW	1	88,255,565 (GRCm38)	missense	probably damaging	1.00
R0659:Mroh2a	UTSW	1	88,242,420 (GRCm38)	missense	possibly damaging	0.77
R0659:Mroh2a	UTSW	1	88,250,342 (GRCm38)	missense	probably damaging	1.00
R0671:Mroh2a	UTSW	1	88,242,420 (GRCm38)	missense	possibly damaging	0.77
R0675:Mroh2a	UTSW	1	88,228,380 (GRCm38)	missense	probably damaging	0.99
R0675:Mroh2a	UTSW	1	88,250,342 (GRCm38)	missense	probably damaging	1.00
R0689:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R0689:Mroh2a	UTSW	1	88,230,680 (GRCm38)	nonsense	probably null
R0735:Mroh2a	UTSW	1	88,243,950 (GRCm38)	missense	probably damaging	1.00
R0761:Mroh2a	UTSW	1	88,243,950 (GRCm38)	missense	probably damaging	1.00
R0766:Mroh2a	UTSW	1	88,230,680 (GRCm38)	nonsense	probably null
R0845:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R0853:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R0959:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R0960:Mroh2a	UTSW	1	88,242,420 (GRCm38)	missense	possibly damaging	0.77
R1004:Mroh2a	UTSW	1	88,242,420 (GRCm38)	missense	possibly damaging	0.77
R1013:Mroh2a	UTSW	1	88,234,612 (GRCm38)	critical splice donor site	probably null
R1028:Mroh2a	UTSW	1	88,235,376 (GRCm38)	missense	probably benign	0.30
R1268:Mroh2a	UTSW	1	88,230,680 (GRCm38)	nonsense	probably null
R1281:Mroh2a	UTSW	1	88,256,167 (GRCm38)	frame shift	probably null
R1414:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R1439:Mroh2a	UTSW	1	88,257,802 (GRCm38)	missense	probably damaging	1.00
R1441:Mroh2a	UTSW	1	88,241,631 (GRCm38)	missense	possibly damaging	0.93
R1442:Mroh2a	UTSW	1	88,232,353 (GRCm38)	splice site	probably benign
R1442:Mroh2a	UTSW	1	88,242,420 (GRCm38)	missense	possibly damaging	0.77
R1465:Mroh2a	UTSW	1	88,257,802 (GRCm38)	missense	probably damaging	1.00
R1662:Mroh2a	UTSW	1	88,241,618 (GRCm38)	missense	probably benign	0.07
R1686:Mroh2a	UTSW	1	88,230,680 (GRCm38)	nonsense	probably null
R1686:Mroh2a	UTSW	1	88,234,612 (GRCm38)	critical splice donor site	probably null
R1780:Mroh2a	UTSW	1	88,230,680 (GRCm38)	nonsense	probably null
R1846:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R1899:Mroh2a	UTSW	1	88,235,376 (GRCm38)	missense	probably benign	0.30
R1958:Mroh2a	UTSW	1	88,237,491 (GRCm38)	nonsense	probably null
R2122:Mroh2a	UTSW	1	88,256,754 (GRCm38)	missense	probably benign	0.37
R2248:Mroh2a	UTSW	1	88,256,754 (GRCm38)	missense	probably benign	0.37
R2306:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R2869:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R2870:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R2871:Mroh2a	UTSW	1	88,255,565 (GRCm38)	missense	probably damaging	1.00
R2872:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R3408:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R3608:Mroh2a	UTSW	1	88,244,995 (GRCm38)	missense	probably damaging	1.00
R3730:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R3937:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R4022:Mroh2a	UTSW	1	88,246,042 (GRCm38)	missense	probably damaging	1.00
R4049:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R4133:Mroh2a	UTSW	1	88,254,965 (GRCm38)	missense	possibly damaging	0.95
R4361:Mroh2a	UTSW	1	88,254,965 (GRCm38)	missense	possibly damaging	0.95
R4392:Mroh2a	UTSW	1	88,259,589 (GRCm38)	missense	probably damaging	1.00
R4401:Mroh2a	UTSW	1	88,254,935 (GRCm38)	missense	possibly damaging	0.72
R4402:Mroh2a	UTSW	1	88,254,935 (GRCm38)	missense	possibly damaging	0.72
R4575:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R4625:Mroh2a	UTSW	1	88,254,965 (GRCm38)	missense	possibly damaging	0.95
R4631:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R4665:Mroh2a	UTSW	1	88,241,618 (GRCm38)	missense	probably benign	0.07
R4701:Mroh2a	UTSW	1	88,234,612 (GRCm38)	critical splice donor site	probably null
R4701:Mroh2a	UTSW	1	88,241,618 (GRCm38)	missense	probably benign	0.07
R4771:Mroh2a	UTSW	1	88,251,365 (GRCm38)	missense	probably damaging	1.00
R4795:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R4839:Mroh2a	UTSW	1	88,237,944 (GRCm38)	missense	probably damaging	1.00
R4873:Mroh2a	UTSW	1	88,254,935 (GRCm38)	missense	possibly damaging	0.72
R4875:Mroh2a	UTSW	1	88,254,935 (GRCm38)	missense	possibly damaging	0.72
R4896:Mroh2a	UTSW	1	88,256,754 (GRCm38)	missense	probably benign	0.37
R5007:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R5062:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R5301:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R5367:Mroh2a	UTSW	1	88,254,965 (GRCm38)	missense	possibly damaging	0.95
R5371:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R5446:Mroh2a	UTSW	1	88,254,965 (GRCm38)	missense	possibly damaging	0.95
R5484:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R5506:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R5561:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R5615:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R5825:Mroh2a	UTSW	1	88,230,680 (GRCm38)	nonsense	probably null
R5891:Mroh2a	UTSW	1	88,241,615 (GRCm38)	missense	possibly damaging	0.93
R5906:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R5928:Mroh2a	UTSW	1	88,241,618 (GRCm38)	missense	probably benign	0.07
R6004:Mroh2a	UTSW	1	88,248,655 (GRCm38)	missense	probably damaging	1.00
R6035:Mroh2a	UTSW	1	88,230,668 (GRCm38)	missense	probably damaging	1.00
R6064:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R6074:Mroh2a	UTSW	1	88,258,664 (GRCm38)	missense	probably benign	0.00
R6091:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R6127:Mroh2a	UTSW	1	88,234,612 (GRCm38)	critical splice donor site	probably null
R6234:Mroh2a	UTSW	1	88,256,754 (GRCm38)	missense	probably benign	0.37
R6234:Mroh2a	UTSW	1	88,234,612 (GRCm38)	critical splice donor site	probably null
R6244:Mroh2a	UTSW	1	88,256,754 (GRCm38)	missense	probably benign	0.37
R6464:Mroh2a	UTSW	1	88,257,802 (GRCm38)	missense	probably damaging	1.00
R6465:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R6575:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
R6809:Mroh2a	UTSW	1	88,235,216 (GRCm38)	missense	probably benign	0.01
R6819:Mroh2a	UTSW	1	88,242,420 (GRCm38)	missense	possibly damaging	0.77
R6854:Mroh2a	UTSW	1	88,243,950 (GRCm38)	missense	probably damaging	1.00
R6860:Mroh2a	UTSW	1	88,254,935 (GRCm38)	missense	possibly damaging	0.72
R7126:Mroh2a	UTSW	1	88,254,935 (GRCm38)	missense	possibly damaging	0.72
R7818:Mroh2a	UTSW	1	88,234,612 (GRCm38)	critical splice donor site	probably null
R8350:Mroh2a	UTSW	1	88,244,083 (GRCm38)	splice site	probably null
R9414:Mroh2a	UTSW	1	88,251,374 (GRCm38)	missense	probably benign	0.26
RF024:Mroh2a	UTSW	1	88,242,485 (GRCm38)	missense	probably damaging	1.00
V5622:Mroh2a	UTSW	1	88,227,091 (GRCm38)	start gained	probably benign
V8831:Mroh2a	UTSW	1	88,256,167 (GRCm38)	frame shift	probably null
X0027:Mroh2a	UTSW	1	88,248,613 (GRCm38)	missense	possibly damaging	0.86
X0028:Mroh2a	UTSW	1	88,256,166 (GRCm38)	frame shift	probably null
X0028:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
X0033:Mroh2a	UTSW	1	88,256,166 (GRCm38)	frame shift	probably null
X0034:Mroh2a	UTSW	1	88,256,166 (GRCm38)	frame shift	probably null
X0034:Mroh2a	UTSW	1	88,232,292 (GRCm38)	missense	probably damaging	1.00
X0034:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
X0039:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
X0057:Mroh2a	UTSW	1	88,256,166 (GRCm38)	frame shift	probably null
X0057:Mroh2a	UTSW	1	88,255,655 (GRCm38)	missense	probably benign	0.25
X0057:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
X0063:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
Z1188:Mroh2a	UTSW	1	88,235,216 (GRCm38)	missense	probably benign	0.01
Z1190:Mroh2a	UTSW	1	88,232,257 (GRCm38)	frame shift	probably null
Z1192:Mroh2a	UTSW	1	88,235,216 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TATGCCCTTGAGCAGACATG -3'
(R):5'- CTGAGCAAAGCAACCACTGG -3'

Sequencing Primer
(F):5'- AGTTCACCCTTTTTAAACATGTGGC -3'
(R):5'- TGGGATGCAAACCAACTTCTCATTC -3'

Posted On

2017-01-11