Mutagenetix > Incidental Mutation

Incidental Mutation 'R4839:Mroh2a'

371592

Institutional Source

Beutler Lab

Gene Symbol

Mroh2a

Ensembl Gene

ENSMUSG00000079429

Gene Name

maestro heat-like repeat family member 2A

Synonyms

Heatr7b1, ENSMUSG00000044873, OTTMUSG00000020804

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R4839 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

88226986-88262289 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88237944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 512 (G512S)

Ref Sequence

ENSEMBL: ENSMUSP00000108755 (fasta)

Gene Model

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

AlphaFold

D3Z750

Predicted Effect

probably damaging
Transcript: ENSMUST00000061013
AA Change: G515S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130508
Gene: ENSMUSG00000079429
AA Change: G515S

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 damaging
Transcript: ENSMUST00000113130
AA Change: G512S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108755
Gene: ENSMUSG00000079429
AA Change: G512S

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: ENSMUST00000142632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148474

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,008,013	S467T	probably benign	Het
2310030G06Rik	A	T	9: 50,740,723	Y68*	probably null	Het
4931408C20Rik	T	C	1: 26,685,359	T247A	probably benign	Het
9130019O22Rik	T	C	7: 127,385,007	S308G	probably benign	Het
Abat	T	G	16: 8,583,648		probably benign	Het
Abca2	C	T	2: 25,440,909	S1203F	probably damaging	Het
Adam22	G	A	5: 8,136,813	P436L	probably damaging	Het
Ak3	A	C	19: 29,047,732	L33R	probably damaging	Het
Arhgap11a	A	T	2: 113,842,029	I198K	probably damaging	Het
Arl14epl	A	T	18: 46,932,477	K103M	possibly damaging	Het
Atg16l1	T	A	1: 87,766,174	N65K	probably damaging	Het
Btnl2	G	A	17: 34,365,286	W394*	probably null	Het
Cacna1e	C	A	1: 154,421,058	R1687L	probably damaging	Het
Cacna1g	G	T	11: 94,459,607	R471S	probably benign	Het
Cdh13	A	T	8: 118,851,848	R205*	probably null	Het
Cdkl3	A	T	11: 52,005,034	Y36F	probably damaging	Het
Cep290	T	A	10: 100,508,786	N488K	probably damaging	Het
Cep350	A	T	1: 155,928,494	C948S	probably benign	Het
Cep70	A	G	9: 99,296,085	K446R	probably benign	Het
Cfap70	T	C	14: 20,425,529	T375A	probably damaging	Het
Cfhr1	A	G	1: 139,560,133	L9S	probably damaging	Het
Chrm4	T	A	2: 91,927,607	M120K	probably damaging	Het
Col1a1	A	G	11: 94,950,095		probably null	Het
Col3a1	T	C	1: 45,323,803		probably null	Het
Csrnp3	A	T	2: 66,022,031	R256*	probably null	Het
Dbf4	T	A	5: 8,408,263	K190*	probably null	Het
Dnah10	A	T	5: 124,773,132	I1573F	probably damaging	Het
Dock8	A	G	19: 25,169,494	I1446V	probably benign	Het
Dst	G	T	1: 34,190,862	R2187M	probably damaging	Het
Ece2	C	T	16: 20,631,168	R257C	probably damaging	Het
Espn	A	G	4: 152,138,504	Y306H	probably damaging	Het
Fam208b	G	A	13: 3,584,807	P667S	probably damaging	Het
Fkbpl	G	A	17: 34,645,865	M202I	probably benign	Het
Fn1	A	G	1: 71,642,083	L362P	probably damaging	Het
Ganc	A	C	2: 120,459,823	R880S	probably benign	Het
Gucy1b2	A	T	14: 62,448,246	L90Q	probably damaging	Het
Hcn1	T	A	13: 117,925,710	I504N	unknown	Het
Hdac2	C	A	10: 36,997,466	T352K	probably benign	Het
Hip1	T	C	5: 135,426,318		probably null	Het
Hspa13	G	A	16: 75,765,281	S10L	probably damaging	Het
Ipo5	T	C	14: 120,920,038	I96T	probably benign	Het
Isl1	T	C	13: 116,301,684	Y264C	probably damaging	Het
Izumo1	T	C	7: 45,626,233	I322T	probably benign	Het
Kars	A	C	8: 112,002,526	V183G	possibly damaging	Het
Lrrc15	C	A	16: 30,274,268	M84I	probably benign	Het
Magi1	A	T	6: 93,694,196	V796E	probably damaging	Het
Matn4	G	T	2: 164,400,976	D67E	probably benign	Het
Mertk	A	G	2: 128,782,576	M636V	probably damaging	Het
Mettl27	C	A	5: 134,934,412	P126T	probably damaging	Het
Mfrp	T	A	9: 44,102,135	H52Q	possibly damaging	Het
Mrgprb8	T	G	7: 48,388,908	I109R	probably benign	Het
Ncoa7	T	A	10: 30,722,659	R89S	possibly damaging	Het
Nfkb2	G	T	19: 46,307,567	E170D	probably benign	Het
Nin	G	T	12: 70,090,551	H84N	possibly damaging	Het
Nwd2	A	T	5: 63,805,550	I826F	possibly damaging	Het
Olfr195	A	G	16: 59,149,030	Y60C	probably damaging	Het
Olfr299	T	C	7: 86,465,909	F166S	probably damaging	Het
Olfr339	G	A	2: 36,422,000	V201I	probably benign	Het
Olfr498	T	C	7: 108,465,731	S136P	probably benign	Het
Olfr69	T	C	7: 103,767,754	I214M	possibly damaging	Het
Olfr724	C	T	14: 49,960,189	M294I	probably benign	Het
Olfr959	A	G	9: 39,573,145	M38T	probably benign	Het
Otof	C	T	5: 30,419,404	R168H	probably damaging	Het
Pcdha6	T	C	18: 36,968,432	V226A	possibly damaging	Het
Pggt1b	T	C	18: 46,258,099	I200V	possibly damaging	Het
Ppat	G	A	5: 76,950,964	Q41*	probably null	Het
Ppfibp2	A	T	7: 107,742,985	H27L	probably damaging	Het
Rbm27	T	A	18: 42,327,445	I775N	probably damaging	Het
Rnf40	C	T	7: 127,592,640	R349*	probably null	Het
Rtp3	A	T	9: 110,989,476	W46R	probably damaging	Het
Sass6	C	T	3: 116,610,300	R196W	probably damaging	Het
Sel1l	A	T	12: 91,833,158	D131E	probably benign	Het
Slain2	T	C	5: 72,948,723	S234P	probably damaging	Het
Slc47a1	C	T	11: 61,373,350		probably null	Het
Sp140	CAGAAGAAG	CAGAAG	1: 85,610,808		probably benign	Het
Spef2	A	T	15: 9,713,178	Y369*	probably null	Het
Spred2	T	A	11: 19,998,233	M76K	possibly damaging	Het
Svs2	T	A	2: 164,236,886	D367V	probably benign	Het
Tefm	A	T	11: 80,137,121	D270E	probably benign	Het
Tfcp2l1	C	A	1: 118,669,464	P425H	probably benign	Het
Thbd	A	T	2: 148,406,671	C426S	probably damaging	Het
Timm10b	T	A	7: 105,684,012	D968E	probably damaging	Het
Tle2	C	T	10: 81,577,684	T119I	probably damaging	Het
Tnik	T	A	3: 28,596,075	Y446N	possibly damaging	Het
Tpr	T	A	1: 150,449,197	L2400*	probably null	Het
Trrap	T	C	5: 144,845,592	F3328S	probably damaging	Het
Vldlr	G	A	19: 27,238,065	C154Y	probably damaging	Het
Vmn1r79	T	G	7: 12,176,434	M81R	probably benign	Het
Vps13d	T	C	4: 145,085,430	T3305A	possibly damaging	Het
Wdr62	T	A	7: 30,241,465	I843F	probably benign	Het
Wdr62	T	C	7: 30,270,686	E232G	probably damaging	Het
Zfp873	T	A	10: 82,060,519	H361Q	probably damaging	Het
Zfp949	A	C	9: 88,569,994	H539P	probably damaging	Het

Other mutations in Mroh2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Mroh2a	APN	1	88230746	missense	probably damaging	0.99
IGL00990:Mroh2a	APN	1	88244970	missense	probably benign	0.03
IGL00990:Mroh2a	APN	1	88234120	missense	possibly damaging	0.76
IGL03097:Mroh2a	UTSW	1	88235376	missense	probably benign	0.30
R0032:Mroh2a	UTSW	1	88256166	frame shift	probably null
R0068:Mroh2a	UTSW	1	88256166	frame shift	probably null
R0139:Mroh2a	UTSW	1	88257802	missense	probably damaging	1.00
R0197:Mroh2a	UTSW	1	88246042	missense	probably damaging	1.00
R0242:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R0322:Mroh2a	UTSW	1	88230680	nonsense	probably null
R0374:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R0387:Mroh2a	UTSW	1	88246042	missense	probably damaging	1.00
R0412:Mroh2a	UTSW	1	88235216	missense	probably benign	0.01
R0536:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R0548:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R0580:Mroh2a	UTSW	1	88243950	missense	probably damaging	1.00
R0581:Mroh2a	UTSW	1	88256166	frame shift	probably null
R0583:Mroh2a	UTSW	1	88256166	frame shift	probably null
R0613:Mroh2a	UTSW	1	88243950	missense	probably damaging	1.00
R0652:Mroh2a	UTSW	1	88230680	nonsense	probably null
R0657:Mroh2a	UTSW	1	88255565	missense	probably damaging	1.00
R0659:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R0659:Mroh2a	UTSW	1	88250342	missense	probably damaging	1.00
R0671:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R0675:Mroh2a	UTSW	1	88228380	missense	probably damaging	0.99
R0675:Mroh2a	UTSW	1	88250342	missense	probably damaging	1.00
R0689:Mroh2a	UTSW	1	88230680	nonsense	probably null
R0689:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R0735:Mroh2a	UTSW	1	88243950	missense	probably damaging	1.00
R0761:Mroh2a	UTSW	1	88243950	missense	probably damaging	1.00
R0766:Mroh2a	UTSW	1	88230680	nonsense	probably null
R0845:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R0853:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R0959:Mroh2a	UTSW	1	88232257	frame shift	probably null
R0960:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R1004:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R1013:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R1028:Mroh2a	UTSW	1	88235376	missense	probably benign	0.30
R1268:Mroh2a	UTSW	1	88230680	nonsense	probably null
R1281:Mroh2a	UTSW	1	88256167	frame shift	probably null
R1414:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R1439:Mroh2a	UTSW	1	88257802	missense	probably damaging	1.00
R1441:Mroh2a	UTSW	1	88241631	missense	possibly damaging	0.93
R1442:Mroh2a	UTSW	1	88232353	splice site	probably benign
R1442:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R1465:Mroh2a	UTSW	1	88257802	missense	probably damaging	1.00
R1662:Mroh2a	UTSW	1	88241618	missense	probably benign	0.07
R1686:Mroh2a	UTSW	1	88230680	nonsense	probably null
R1686:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R1780:Mroh2a	UTSW	1	88230680	nonsense	probably null
R1846:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R1899:Mroh2a	UTSW	1	88235376	missense	probably benign	0.30
R1958:Mroh2a	UTSW	1	88237491	nonsense	probably null
R2122:Mroh2a	UTSW	1	88256754	missense	probably benign	0.37
R2248:Mroh2a	UTSW	1	88256754	missense	probably benign	0.37
R2306:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R2869:Mroh2a	UTSW	1	88232257	frame shift	probably null
R2870:Mroh2a	UTSW	1	88232257	frame shift	probably null
R2871:Mroh2a	UTSW	1	88255565	missense	probably damaging	1.00
R2872:Mroh2a	UTSW	1	88232257	frame shift	probably null
R3408:Mroh2a	UTSW	1	88232257	frame shift	probably null
R3608:Mroh2a	UTSW	1	88244995	missense	probably damaging	1.00
R3730:Mroh2a	UTSW	1	88232257	frame shift	probably null
R3937:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R4022:Mroh2a	UTSW	1	88246042	missense	probably damaging	1.00
R4049:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R4133:Mroh2a	UTSW	1	88254965	missense	possibly damaging	0.95
R4361:Mroh2a	UTSW	1	88254965	missense	possibly damaging	0.95
R4392:Mroh2a	UTSW	1	88259589	missense	probably damaging	1.00
R4401:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R4402:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R4575:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R4625:Mroh2a	UTSW	1	88254965	missense	possibly damaging	0.95
R4631:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R4665:Mroh2a	UTSW	1	88241618	missense	probably benign	0.07
R4701:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R4701:Mroh2a	UTSW	1	88241618	missense	probably benign	0.07
R4771:Mroh2a	UTSW	1	88251365	missense	probably damaging	1.00
R4795:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R4873:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R4875:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R4896:Mroh2a	UTSW	1	88256754	missense	probably benign	0.37
R5007:Mroh2a	UTSW	1	88232257	frame shift	probably null
R5031:Mroh2a	UTSW	1	88232257	frame shift	probably null
R5062:Mroh2a	UTSW	1	88232257	frame shift	probably null
R5301:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R5367:Mroh2a	UTSW	1	88254965	missense	possibly damaging	0.95
R5371:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R5446:Mroh2a	UTSW	1	88254965	missense	possibly damaging	0.95
R5484:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R5506:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R5561:Mroh2a	UTSW	1	88232257	frame shift	probably null
R5615:Mroh2a	UTSW	1	88232257	frame shift	probably null
R5825:Mroh2a	UTSW	1	88230680	nonsense	probably null
R5891:Mroh2a	UTSW	1	88241615	missense	possibly damaging	0.93
R5906:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R5928:Mroh2a	UTSW	1	88241618	missense	probably benign	0.07
R6004:Mroh2a	UTSW	1	88248655	missense	probably damaging	1.00
R6035:Mroh2a	UTSW	1	88230668	missense	probably damaging	1.00
R6064:Mroh2a	UTSW	1	88232257	frame shift	probably null
R6074:Mroh2a	UTSW	1	88258664	missense	probably benign	0.00
R6091:Mroh2a	UTSW	1	88232257	frame shift	probably null
R6127:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R6234:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R6234:Mroh2a	UTSW	1	88256754	missense	probably benign	0.37
R6244:Mroh2a	UTSW	1	88256754	missense	probably benign	0.37
R6464:Mroh2a	UTSW	1	88257802	missense	probably damaging	1.00
R6465:Mroh2a	UTSW	1	88232257	frame shift	probably null
R6575:Mroh2a	UTSW	1	88232257	frame shift	probably null
R6809:Mroh2a	UTSW	1	88235216	missense	probably benign	0.01
R6819:Mroh2a	UTSW	1	88242420	missense	possibly damaging	0.77
R6854:Mroh2a	UTSW	1	88243950	missense	probably damaging	1.00
R6860:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R7126:Mroh2a	UTSW	1	88254935	missense	possibly damaging	0.72
R7818:Mroh2a	UTSW	1	88234612	critical splice donor site	probably null
R8350:Mroh2a	UTSW	1	88244083	splice site	probably null
R9414:Mroh2a	UTSW	1	88251374	missense	probably benign	0.26
RF024:Mroh2a	UTSW	1	88242485	missense	probably damaging	1.00
V5622:Mroh2a	UTSW	1	88227091	start gained	probably benign
V8831:Mroh2a	UTSW	1	88256167	frame shift	probably null
X0027:Mroh2a	UTSW	1	88248613	missense	possibly damaging	0.86
X0028:Mroh2a	UTSW	1	88232257	frame shift	probably null
X0028:Mroh2a	UTSW	1	88256166	frame shift	probably null
X0033:Mroh2a	UTSW	1	88256166	frame shift	probably null
X0034:Mroh2a	UTSW	1	88232257	frame shift	probably null
X0034:Mroh2a	UTSW	1	88232292	missense	probably damaging	1.00
X0034:Mroh2a	UTSW	1	88256166	frame shift	probably null
X0039:Mroh2a	UTSW	1	88232257	frame shift	probably null
X0057:Mroh2a	UTSW	1	88232257	frame shift	probably null
X0057:Mroh2a	UTSW	1	88255655	missense	probably benign	0.25
X0057:Mroh2a	UTSW	1	88256166	frame shift	probably null
X0063:Mroh2a	UTSW	1	88232257	frame shift	probably null
Z1188:Mroh2a	UTSW	1	88235216	missense	probably benign	0.01
Z1190:Mroh2a	UTSW	1	88232257	frame shift	probably null
Z1192:Mroh2a	UTSW	1	88235216	missense	probably benign	0.01

Predicted Primers

Posted On

2016-03-01