Mutagenetix > Incidental Mutation

Incidental Mutation 'R4133:Mroh2a'

368289

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

041637-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R4133 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

88226986-88262289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88254965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 1205 (N1205I)

Ref Sequence

ENSEMBL: ENSMUSP00000130508 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061013] [ENSMUST00000113130] [ENSMUST00000135948]

AlphaFold

D3Z750

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061013
AA Change: N1205I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130508
Gene: ENSMUSG00000079429
AA Change: N1205I

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

possibly damaging
Transcript: ENSMUST00000113130
AA Change: N1202I

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108755
Gene: ENSMUSG00000079429
AA Change: N1202I

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

probably benign
Transcript: ENSMUST00000135948

SMART Domains

Protein: ENSMUSP00000118971
Gene: ENSMUSG00000079429

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	15	174	5e-6	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (77/79)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	T	A	9: 60,769,998		noncoding transcript	Het
Aldh3b1	A	G	19: 3,920,808	I184T	probably damaging	Het
Arhgap42	C	T	9: 9,011,299		probably benign	Het
Arhgef4	A	G	1: 34,806,104	D1463G	probably damaging	Het
Arpc5	A	G	1: 152,768,871	T52A	probably benign	Het
Asb6	A	G	2: 30,828,235		probably benign	Het
Ash1l	T	C	3: 88,982,260	V482A	probably benign	Het
Bop1	T	C	15: 76,454,335	N469S	probably benign	Het
Btaf1	T	A	19: 36,961,738	N266K	probably benign	Het
Btla	T	C	16: 45,239,298	Y122H	probably damaging	Het
Cacna1g	A	G	11: 94,432,544	M1278T	probably damaging	Het
Cdc42bpb	A	G	12: 111,321,542	S524P	probably benign	Het
Cep78	A	G	19: 15,969,155	S438P	probably damaging	Het
Clca4a	T	G	3: 144,969,352	E171D	probably benign	Het
Cldn6	A	T	17: 23,681,493	I144F	probably damaging	Het
Cpd	G	A	11: 76,814,818	Q363*	probably null	Het
Cpn1	G	A	19: 43,986,284	P2L	possibly damaging	Het
Ddx31	A	G	2: 28,858,852	D264G	probably damaging	Het
Ddx39b	C	T	17: 35,253,089	S368L	probably damaging	Het
Ddx60	A	G	8: 61,972,220	K681E	probably damaging	Het
Dennd1c	A	C	17: 57,076,980	W15G	possibly damaging	Het
Dgkd	T	G	1: 87,941,501		probably null	Het
Dnah7c	G	T	1: 46,665,990	A2388S	probably benign	Het
Etv4	C	A	11: 101,770,498	K442N	probably damaging	Het
Fam234a	T	C	17: 26,213,558	D539G	probably damaging	Het
Fam71a	A	T	1: 191,163,008	N479K	probably benign	Het
Fancm	A	G	12: 65,120,530	T1538A	probably benign	Het
Fbn2	A	T	18: 58,095,962	N725K	possibly damaging	Het
Fcer2a	T	A	8: 3,691,130	N4I	possibly damaging	Het
Fgd5	T	C	6: 92,069,437	V1229A	probably damaging	Het
Gm5471	A	T	15: 44,971,901		noncoding transcript	Het
Gm5478	T	A	15: 101,644,645	I331F	probably damaging	Het
Gm6729	C	A	10: 86,541,166		noncoding transcript	Het
Hectd4	G	T	5: 121,277,834		probably null	Het
Hspb3	A	C	13: 113,663,491	M1R	probably null	Het
Igkv10-95	T	C	6: 68,680,617	V19A	probably damaging	Het
Il1rap	A	G	16: 26,722,886	S626G	probably benign	Het
Ints9	A	G	14: 64,990,554	H103R	probably benign	Het
Itga4	T	A	2: 79,322,652	D894E	probably damaging	Het
Khsrp	T	C	17: 57,025,605	H225R	probably benign	Het
Lama1	T	C	17: 67,750,655	Y575H	probably damaging	Het
Lama1	A	T	17: 67,812,486	I2653F	probably damaging	Het
Map4k5	A	T	12: 69,845,723	L144Q	probably damaging	Het
Mcm5	A	G	8: 75,115,854	Y252C	probably damaging	Het
Mmgt2	A	G	11: 62,665,051	E75G	probably damaging	Het
Nckap5	A	G	1: 126,222,706	V162A	probably benign	Het
Nr3c2	T	C	8: 76,909,749	I493T	probably damaging	Het
Olfr1411	T	C	1: 92,596,743	F75L	probably benign	Het
Olfr325	A	T	11: 58,581,075	Y77F	probably damaging	Het
Olfr698	A	C	7: 106,753,079	L103R	probably damaging	Het
Papola	A	G	12: 105,799,658	T6A	possibly damaging	Het
Ppp1cc	G	A	5: 122,168,226	R36Q	probably benign	Het
Ptpro	G	T	6: 137,420,372	W81C	probably damaging	Het
Rasgrf2	A	G	13: 91,982,654	S162P	possibly damaging	Het
Rpusd2	T	C	2: 119,038,715	S540P	probably damaging	Het
Scn5a	T	A	9: 119,486,372	T1757S	probably damaging	Het
Setbp1	T	C	18: 78,856,991	I1154V	probably benign	Het
Sirt1	T	C	10: 63,335,659	I209V	probably null	Het
Slco6c1	T	A	1: 97,081,493	I406L	probably benign	Het
Smc2	A	G	4: 52,450,947	E255G	probably damaging	Het
Snap91	C	A	9: 86,777,049	G477V	probably damaging	Het
Speg	A	G	1: 75,427,904	Q2780R	probably benign	Het
Ssh2	A	G	11: 77,421,269	Y196C	probably damaging	Het
Ssxb9	A	T	X: 8,369,606	T18S	probably damaging	Het
Stxbp5l	T	C	16: 37,208,119	I527M	possibly damaging	Het
Tex10	T	C	4: 48,468,968	Y69C	probably damaging	Het
Theg	T	C	10: 79,580,050	T236A	probably damaging	Het
Thoc3	T	C	13: 54,468,548	D87G	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trps1	T	C	15: 50,831,387	K213R	probably damaging	Het
Uggt1	A	T	1: 36,158,159	L1221Q	probably damaging	Het
Vmn2r3	T	A	3: 64,275,717	Y187F	probably damaging	Het
Washc2	G	A	6: 116,258,930	E1121K	probably damaging	Het
Zfx	T	C	X: 94,080,858	N360D	probably damaging	Het
Znhit3	A	G	11: 84,916,313	V10A	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
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
R5031: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'- AACTCTTTGCTTAGGGGTCCC -3'
(R):5'- CAGGTCAGGAAACAGGTCTG -3'

Sequencing Primer
(F):5'- CCAGGGGGTGTCACGAG -3'
(R):5'- CAGGTCTGGAAATTTGTCATCC -3'

Posted On

2016-01-20