Incidental Mutation 'IGL00990:Mroh2a'
ID306691
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mroh2a
Ensembl Gene ENSMUSG00000079429
Gene Namemaestro heat-like repeat family member 2A
SynonymsHeatr7b1, ENSMUSG00000044873, OTTMUSG00000020804
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.941) question?
Stock #IGL00990
Quality Score
Status
Chromosome1
Chromosomal Location88226986-88262289 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 88230746 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 172 (E172K)
Ref Sequence ENSEMBL: ENSMUSP00000108755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061013] [ENSMUST00000113130]
Predicted Effect probably damaging
Transcript: ENSMUST00000061013
AA Change: E172K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130508
Gene: ENSMUSG00000079429
AA Change: E172K

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 damaging
Transcript: ENSMUST00000113130
AA Change: E172K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108755
Gene: ENSMUSG00000079429
AA Change: E172K

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: ENSMUST00000148474
Coding Region Coverage
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: 148 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A C 7: 139,978,103 V60G probably damaging Het
Adcy8 C A 15: 64,822,313 V372L probably benign Het
Bod1l T C 5: 41,828,865 D458G probably benign Het
C87414 T A 5: 93,636,477 Q376L probably damaging Het
Cacna1c G T 6: 118,613,295 H1416N probably damaging Het
Cacna2d1 T C 5: 15,935,069 I19T probably benign Het
Cadps T A 14: 12,715,374 T153S possibly damaging Het
Cd200r1 A T 16: 44,794,309 D317V possibly damaging Het
Dcaf5 C T 12: 80,338,832 R840H probably benign Het
Dnhd1 A C 7: 105,721,688 H4725P possibly damaging Het
Echdc3 C A 2: 6,195,727 L149F probably benign Het
Efhb T G 17: 53,462,621 Q220P possibly damaging Het
Efr3b A T 12: 3,975,411 Y18* probably null Het
Eri1 T C 8: 35,482,682 K41R possibly damaging Het
Eri1 C A 8: 35,482,646 G53V probably benign Het
Gm10212 A G 19: 11,569,560 noncoding transcript Het
Gm11168 T G 9: 3,005,124 F201C probably damaging Het
Gm14412 A C 2: 177,315,686 S139A probably benign Het
Gm21411 C T 4: 146,892,610 S69N possibly damaging Het
Gm21671 A C 5: 25,954,224 W41G probably benign Het
Gm21738 A G 14: 19,418,885 C16R probably benign Het
Gm21967 T A 13: 119,609,535 probably benign Het
Gm4952 A T 19: 12,623,623 D69V probably damaging Het
Gm5591 T G 7: 38,520,414 K345T probably benign Het
Gm7647 T C 5: 94,962,980 S7P probably benign Het
Gm9733 C T 3: 15,332,145 probably null Het
Gm9758 G A 5: 14,913,508 probably benign Het
Gtse1 C A 15: 85,868,817 Q378K possibly damaging Het
Haus3 T C 5: 34,166,346 K307E probably benign Het
Hjurp A G 1: 88,270,269 L96S probably benign Het
Ifi205 T A 1: 174,027,333 probably benign Het
Ighg1 A G 12: 113,329,184 V255A unknown Het
Ighv14-4 T A 12: 114,176,632 M49L probably benign Het
Jak1 A C 4: 101,171,357 L508R probably damaging Het
Kif18a A G 2: 109,334,422 Q821R probably benign Het
Kif21b T C 1: 136,152,342 S539P possibly damaging Het
Klhdc2 T C 12: 69,307,213 V266A probably benign Het
Lonp2 G T 8: 86,641,533 probably benign Het
Mpdz C T 4: 81,303,584 probably benign Het
Mtif3 C A 5: 146,959,104 G58* probably null Het
Muc4 C A 16: 32,753,955 T1277K possibly damaging Het
Muc4 C T 16: 32,755,805 probably benign Het
Muc4 C T 16: 32,753,823 P1233L probably benign Het
Muc4 G T 16: 32,753,848 K1241N probably benign Het
Muc4 G A 16: 32,753,849 G1242R probably benign Het
Muc4 T G 16: 32,753,863 N1246K probably benign Het
Muc4 A G 16: 32,754,071 R1316G probably benign Het
Muc4 C T 16: 32,752,569 P816S probably benign Het
Muc4 A T 16: 32,753,886 E1254V probably benign Het
Muc6 C T 7: 141,638,890 A1957T possibly damaging Het
Naca T A 10: 128,043,800 probably benign Het
Nars2 A T 7: 97,002,790 probably benign Het
Odf3l1 T C 9: 56,849,057 E225G probably benign Het
Olfr1445 G T 19: 12,883,901 V7L probably benign Het
Olfr342 A C 2: 36,527,993 I194L probably benign Het
Olfr549 G T 7: 102,554,891 L202F probably damaging Het
Olfr812 T C 10: 129,842,473 T190A probably damaging Het
Pcdh7 G A 5: 57,720,464 E454K possibly damaging Het
Pip5kl1 C A 2: 32,583,347 A332D probably benign Het
Pisd A T 5: 32,739,358 S280T probably benign Het
Pramel5 A G 4: 144,273,979 L9P probably damaging Het
Prkd3 G T 17: 78,954,523 N787K probably benign Het
Prkdc A T 16: 15,702,115 H1139L probably benign Het
R3hdm1 A G 1: 128,162,196 probably benign Het
Rbfox2 T C 15: 77,102,936 N206D probably damaging Het
Rlf T C 4: 121,148,339 E1258G possibly damaging Het
Rpl8 T C 15: 76,905,042 probably benign Het
Senp5 A C 16: 31,990,274 V27G probably benign Het
Serpina1b T A 12: 103,728,266 K406N probably damaging Het
Sfi1 G A 11: 3,134,337 A975V probably benign Het
Sfi1 T C 11: 3,143,689 probably benign Het
Sfi1 C T 11: 3,135,671 A853T probably damaging Het
Shc1 T C 3: 89,424,229 S154P probably damaging Het
Skint5 A G 4: 113,542,873 probably null Het
Slc17a8 T C 10: 89,576,530 D531G probably benign Het
Slc4a10 A C 2: 62,286,940 T718P probably damaging Het
Slc7a11 C T 3: 50,379,069 R411Q probably damaging Het
Slitrk3 A G 3: 73,050,081 F453L probably damaging Het
Slk A C 19: 47,580,252 Q20P probably damaging Het
Smg5 T C 3: 88,343,038 probably null Het
Sp110 G A 1: 85,586,281 R252C possibly damaging Het
Sp140 C T 1: 85,626,165 R242C possibly damaging Het
Sp140 G A 1: 85,626,133 R231K probably benign Het
Speer4b G A 5: 27,501,274 P30S probably damaging Het
Stim1 T A 7: 102,426,747 H395Q probably damaging Het
Sult2a1 T C 7: 13,804,036 I187M probably benign Het
Thap1 G A 8: 26,162,731 D189N probably benign Het
Thap1 C T 8: 26,160,882 P37L possibly damaging Het
Thrap3 C T 4: 126,165,395 probably benign Het
Tmem132d C T 5: 127,784,832 V742I possibly damaging Het
Tmprss9 A G 10: 80,892,292 D572G possibly damaging Het
Tmtc1 T G 6: 148,443,944 T86P probably benign Het
Trip12 A T 1: 84,751,884 N1026K probably damaging Het
Ttll5 T A 12: 85,876,589 V280E probably damaging Het
Ubn2 T A 6: 38,482,605 D592E possibly damaging Het
Ubr1 T G 2: 120,930,872 H608P probably damaging Het
Ugt1a6b A T 1: 88,215,178 probably null Het
Vmn1r77 C A 7: 12,041,768 S89Y probably benign Het
Vmn1r77 A C 7: 12,041,476 I60L probably benign Het
Vmn2r114 A T 17: 23,291,238 L756Q probably damaging Het
Vmn2r114 G A 17: 23,290,965 A847V probably benign Het
Vmn2r114 G T 17: 23,290,983 S841Y probably benign Het
Vmn2r115 C T 17: 23,346,264 S375F probably benign Het
Vmn2r115 G A 17: 23,359,779 G742D probably damaging Het
Vmn2r115 G T 17: 23,348,034 G507* probably null Het
Vmn2r115 T A 17: 23,359,824 L757Q probably damaging Het
Vmn2r115 A G 17: 23,356,960 M511V probably benign Het
Vmn2r115 C T 17: 23,346,371 Q411* probably null Het
Vmn2r115 A G 17: 23,346,372 Q411R probably benign Het
Vmn2r115 C T 17: 23,359,397 P615S probably damaging Het
Vmn2r115 G A 17: 23,346,278 E380K probably benign Het
Vmn2r115 A G 17: 23,346,161 N341D probably benign Het
Vmn2r115 G T 17: 23,359,349 A599S probably benign Het
Vmn2r115 A C 17: 23,346,339 N400T probably damaging Het
Vmn2r115 C T 17: 23,346,176 P346S probably benign Het
Vmn2r115 A T 17: 23,346,206 M356L possibly damaging Het
Vmn2r116 C T 17: 23,397,727 P540S probably damaging Het
Vmn2r116 C T 17: 23,387,236 S374F probably benign Het
Vmn2r117 C T 17: 23,477,840 A198T probably damaging Het
Vmn2r117 T G 17: 23,475,429 K481N probably damaging Het
Vmn2r117 A C 17: 23,479,546 S18A probably benign Het
Vmn2r121 T G X: 124,127,802 K840N probably benign Het
Vmn2r121 C T X: 124,133,716 E73K probably benign Het
Vmn2r121 T A X: 124,127,783 N847Y possibly damaging Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r125 A T 4: 156,351,037 T237S probably benign Het
Vmn2r125 A C 4: 156,350,900 Q191P probably benign Het
Vmn2r125 C A 4: 156,350,899 Q191K probably benign Het
Vmn2r125 T C 4: 156,350,966 V213A probably benign Het
Vmn2r125 T C 4: 156,351,383 M352T probably benign Het
Vmn2r125 T A 4: 156,351,226 L300M probably benign Het
Vmn2r88 A G 14: 51,413,125 I98M probably benign Het
Vmn2r88 T C 14: 51,413,060 F77L probably benign Het
Vmn2r88 T C 14: 51,413,256 I142T probably benign Het
Vmn2r88 C T 14: 51,416,802 P539L possibly damaging Het
Vmn2r89 T G 14: 51,457,493 L477V probably benign Het
Vmn2r89 A C 14: 51,455,971 Q259H probably benign Het
Vmn2r-ps159 T C 4: 156,334,263 noncoding transcript Het
Vmn2r-ps159 C A 4: 156,338,435 noncoding transcript Het
Vmn2r-ps159 G T 4: 156,338,460 noncoding transcript Het
Vmn2r-ps159 T G 4: 156,338,484 noncoding transcript Het
Vmn2r-ps159 G T 4: 156,334,397 noncoding transcript Het
Vmn2r-ps159 T G 4: 156,334,562 noncoding transcript Het
Vmn2r-ps159 A T 4: 156,338,146 noncoding transcript Het
Zfp180 G A 7: 24,104,416 C85Y possibly damaging Het
Zfp180 C T 7: 24,104,830 R225C probably benign Het
Zfp180 G A 7: 24,104,995 V280M possibly damaging Het
Zfp982 G A 4: 147,512,369 C61Y probably benign Het
Other mutations in Mroh2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4839:Mroh2a UTSW 1 88237944 missense probably damaging 1.00
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
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
Posted On2015-04-16