Incidental Mutation 'R7818:Mroh2a'
ID 628651
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 045872-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.927) question?
Stock # R7818 (G1)
Quality Score 50.0072
Status Validated
Chromosome 1
Chromosomal Location 88226986-88262289 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 88234612 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130508 (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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000113130
SMART Domains Protein: ENSMUSP00000108755
Gene: ENSMUSG00000079429

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 99% (88/89)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,304,221 (GRCm38) R342S probably benign Het
Aatk C T 11: 120,021,455 (GRCm38) V55I probably benign Het
Abhd10 T A 16: 45,737,553 (GRCm38) I128L probably benign Het
Abraxas1 T A 5: 100,806,310 (GRCm38) M325L probably benign Het
Adgrb2 C T 4: 130,014,969 (GRCm38) P1124S possibly damaging Het
Adgrb2 C A 4: 130,014,560 (GRCm38) L1087I probably damaging Het
Akap9 T A 5: 4,013,875 (GRCm38) Y1741* probably null Het
Ap1g2 A T 14: 55,099,724 (GRCm38) V718D probably benign Het
Asph A T 4: 9,475,015 (GRCm38) M637K probably damaging Het
Atp2c1 T C 9: 105,414,757 (GRCm38) I869V probably benign Het
C1ra G A 6: 124,517,725 (GRCm38) E316K probably benign Het
Cacna1e T C 1: 154,398,406 (GRCm38) D2251G probably damaging Het
Camk2b A G 11: 5,977,812 (GRCm38) S413P probably benign Het
Casz1 G A 4: 148,946,076 (GRCm38) C1184Y probably damaging Het
Cbr4 G A 8: 61,487,942 (GRCm38) V32I probably benign Het
Ccdc166 A G 15: 75,981,015 (GRCm38) S368P possibly damaging Het
Ccdc170 A G 10: 4,549,603 (GRCm38) N508S probably benign Het
Ccdc187 A G 2: 26,276,174 (GRCm38) S748P possibly damaging Het
Cdca8 A T 4: 124,926,663 (GRCm38) probably null Het
Cep120 T C 18: 53,723,103 (GRCm38) D414G probably benign Het
Dcp1a G T 14: 30,479,721 (GRCm38) A34S probably damaging Het
Ddit3 C T 10: 127,295,793 (GRCm38) T70I probably benign Het
Dlg2 C G 7: 91,940,017 (GRCm38) A313G probably damaging Het
Dnah9 A T 11: 66,025,211 (GRCm38) V2305D possibly damaging Het
Dock1 T A 7: 134,763,865 (GRCm38) D427E probably damaging Het
Dolpp1 T C 2: 30,396,491 (GRCm38) L141P probably benign Het
Dsc2 A T 18: 20,050,132 (GRCm38) D76E probably damaging Het
Dusp7 C A 9: 106,369,130 (GRCm38) N111K probably benign Het
Fam193a A G 5: 34,465,653 (GRCm38) E1195G possibly damaging Het
Fig4 A G 10: 41,263,166 (GRCm38) L347P probably damaging Het
Frem1 T C 4: 83,014,008 (GRCm38) E152G probably damaging Het
Galnt2 G T 8: 124,329,788 (GRCm38) D234Y probably damaging Het
Hist1h1d C T 13: 23,554,991 (GRCm38) probably benign Het
Igkv4-59 T C 6: 69,438,491 (GRCm38) T27A possibly damaging Het
Ihh T C 1: 74,946,645 (GRCm38) D227G possibly damaging Het
Il1rap T A 16: 26,698,847 (GRCm38) C266S probably damaging Het
Iqcf4 A T 9: 106,570,539 (GRCm38) L57* probably null Het
Kif2b A G 11: 91,576,126 (GRCm38) S444P probably damaging Het
Lmf1 T G 17: 25,662,591 (GRCm38) I538S probably benign Het
Mical2 A G 7: 112,345,307 (GRCm38) Y948C probably damaging Het
Mr1 G A 1: 155,130,636 (GRCm38) Q322* probably null Het
Mup6 A G 4: 60,004,884 (GRCm38) T100A probably benign Het
Mybpc1 T A 10: 88,558,667 (GRCm38) D266V probably damaging Het
Myocos T C 1: 162,647,494 (GRCm38) N48S unknown Het
Naf1 G A 8: 66,889,376 (GRCm38) G551E probably damaging Het
Nrarp A G 2: 25,181,238 (GRCm38) N43S possibly damaging Het
Olfr1253 A G 2: 89,751,944 (GRCm38) S295P possibly damaging Het
Olfr19 A C 16: 16,673,573 (GRCm38) M136R probably damaging Het
Olfr472 G A 7: 107,903,023 (GRCm38) C102Y probably benign Het
Olfr832 T A 9: 18,945,009 (GRCm38) Y120* probably null Het
Olfr983 T A 9: 40,092,712 (GRCm38) M85L probably damaging Het
Padi3 T A 4: 140,798,142 (GRCm38) T177S possibly damaging Het
Pde3b A G 7: 114,491,440 (GRCm38) M305V probably damaging Het
Pde6a T A 18: 61,281,509 (GRCm38) probably null Het
Plscr4 C T 9: 92,490,790 (GRCm38) R322* probably null Het
Prph A G 15: 99,057,872 (GRCm38) T446A probably damaging Het
Pwwp2b T C 7: 139,255,324 (GRCm38) V227A probably benign Het
Rev3l T C 10: 39,823,902 (GRCm38) I1465T possibly damaging Het
Rin1 A G 19: 5,052,191 (GRCm38) S243G probably benign Het
Ripor3 A T 2: 167,989,426 (GRCm38) I485N probably benign Het
Rnpc3 G T 3: 113,629,951 (GRCm38) P35Q probably damaging Het
Sbpl G T 17: 23,953,262 (GRCm38) Q228K unknown Het
Scn11a A C 9: 119,784,111 (GRCm38) N804K probably damaging Het
Selenoo A G 15: 89,096,816 (GRCm38) T453A probably damaging Het
Sez6 C T 11: 77,976,902 (GRCm38) P882S probably damaging Het
Skint5 C T 4: 113,942,726 (GRCm38) R82H possibly damaging Het
Slc18a2 A C 19: 59,263,161 (GRCm38) T115P probably benign Het
Slc1a2 A G 2: 102,743,956 (GRCm38) D237G probably benign Het
Spidr T C 16: 16,114,865 (GRCm38) S184G probably damaging Het
Stag3 A T 5: 138,301,443 (GRCm38) Q872L probably benign Het
Suds3 T C 5: 117,115,749 (GRCm38) probably benign Het
Sv2c T A 13: 95,986,820 (GRCm38) K382* probably null Het
Taf2 T C 15: 55,065,930 (GRCm38) I77V probably benign Het
Tcof1 G C 18: 60,829,051 (GRCm38) A702G possibly damaging Het
Tdrd3 G T 14: 87,472,200 (GRCm38) C100F probably damaging Het
Tek T A 4: 94,827,716 (GRCm38) H458Q possibly damaging Het
Tes C A 6: 17,099,744 (GRCm38) P246Q probably damaging Het
Tgif1 A T 17: 70,849,608 (GRCm38) probably null Het
Tlr11 A T 14: 50,361,828 (GRCm38) N424Y probably damaging Het
Tmc8 A T 11: 117,792,127 (GRCm38) N626I probably damaging Het
Tmem132c T A 5: 127,564,088 (GRCm38) *1108K probably null Het
Tnks A T 8: 34,873,028 (GRCm38) Y479N probably benign Het
Trip12 C T 1: 84,760,806 (GRCm38) G776D probably damaging Het
Tssk1 A G 16: 17,894,447 (GRCm38) E32G probably benign Het
Ube2o T C 11: 116,543,910 (GRCm38) D575G probably damaging Het
Uckl1 A T 2: 181,574,667 (GRCm38) M16K probably damaging Het
Zfp948 A T 17: 21,587,723 (GRCm38) E392D probably benign Het
Zmynd8 G A 2: 165,842,831 (GRCm38) T167I probably damaging Het
Other mutations in Mroh2a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GTCACTGTAACTAAGAACCATGGG -3'
(R):5'- TCCCTGGATGACTTGTGTGC -3'

Sequencing Primer
(F):5'- GGACCCTTGAGCAGTTATACC -3'
(R):5'- CCTGATAAACTTGGAGAGTGTGC -3'
Posted On 2020-06-01