Incidental Mutation 'R4030:Mroh8'
ID 313154
Institutional Source Beutler Lab
Gene Symbol Mroh8
Ensembl Gene ENSMUSG00000074627
Gene Name maestro heat-like repeat family member 8
Synonyms 4922505G16Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R4030 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 157050470-157121469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 157055640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 986 (D986V)
Ref Sequence ENSEMBL: ENSMUSP00000124362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143663]
AlphaFold E9PYI4
Predicted Effect probably damaging
Transcript: ENSMUST00000143663
AA Change: D986V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: D986V

DomainStartEndE-ValueType
low complexity region 189 200 N/A INTRINSIC
low complexity region 357 370 N/A INTRINSIC
SCOP:d1qbkb_ 724 1024 8e-10 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,668 (GRCm39) S54P probably benign Het
2700062C07Rik C T 18: 24,608,715 (GRCm39) P145L probably benign Het
Akap3 A T 6: 126,841,984 (GRCm39) D201V probably damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Bpifb2 T C 2: 153,733,237 (GRCm39) S400P probably benign Het
Brd7 A T 8: 89,059,559 (GRCm39) I617N probably damaging Het
Cdhr2 C A 13: 54,865,674 (GRCm39) P224Q probably damaging Het
Cdon A G 9: 35,403,202 (GRCm39) N1104S probably damaging Het
Ceacam3 T C 7: 16,892,267 (GRCm39) Y337H probably benign Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cpsf1 G A 15: 76,485,979 (GRCm39) T397M possibly damaging Het
Crhr2 T C 6: 55,094,662 (GRCm39) D32G probably benign Het
Dip2b A G 15: 100,084,053 (GRCm39) Y892C probably damaging Het
Dpyd A G 3: 118,690,815 (GRCm39) D308G probably benign Het
Dsp A G 13: 38,375,404 (GRCm39) N1063S possibly damaging Het
E030030I06Rik C A 10: 22,024,899 (GRCm39) G5C unknown Het
Ehbp1 T C 11: 22,235,498 (GRCm39) T32A probably damaging Het
Fbxo9 C A 9: 78,005,623 (GRCm39) probably null Het
Gpatch3 G A 4: 133,305,458 (GRCm39) R231H possibly damaging Het
Gpr68 A G 12: 100,845,475 (GRCm39) L23P probably damaging Het
H2-Q6 C A 17: 35,644,792 (GRCm39) Q194K probably benign Het
Hmgb1 A G 5: 148,987,510 (GRCm39) M13T probably benign Het
Kdm5a T A 6: 120,382,074 (GRCm39) L706* probably null Het
Krt12 A T 11: 99,312,854 (GRCm39) F63L unknown Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Lgr4 T C 2: 109,820,096 (GRCm39) S102P probably benign Het
Loxl4 A T 19: 42,596,798 (GRCm39) V71E probably damaging Het
Lrrc36 A C 8: 106,153,439 (GRCm39) N83T probably damaging Het
Med26 G A 8: 73,250,413 (GRCm39) R229C probably damaging Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mrpl49 T C 19: 6,105,230 (GRCm39) D77G probably benign Het
Mrps30 T C 13: 118,517,077 (GRCm39) N381D probably damaging Het
Mrtfa G A 15: 80,899,985 (GRCm39) T729I probably benign Het
Omd T A 13: 49,743,125 (GRCm39) N58K probably benign Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Or4a75 C A 2: 89,448,207 (GRCm39) V110F probably damaging Het
Plpp5 T A 8: 26,210,631 (GRCm39) L74Q probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Prex2 T A 1: 11,278,792 (GRCm39) Y1374N probably benign Het
Rbak A T 5: 143,159,724 (GRCm39) I443K probably damaging Het
Rhpn1 A T 15: 75,582,406 (GRCm39) S195C probably damaging Het
Rnf115 T A 3: 96,693,299 (GRCm39) I210N probably damaging Het
Rock2 G A 12: 17,025,480 (GRCm39) V1234I probably damaging Het
Scube2 A G 7: 109,430,978 (GRCm39) V407A probably benign Het
Serpina3n G T 12: 104,377,660 (GRCm39) probably null Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Slco2b1 A G 7: 99,332,032 (GRCm39) L283P probably damaging Het
Spag1 G A 15: 36,234,447 (GRCm39) V736M probably damaging Het
Srebf2 T A 15: 82,062,984 (GRCm39) C434S probably damaging Het
Ston2 T C 12: 91,615,037 (GRCm39) Q457R possibly damaging Het
Trhr2 T C 8: 123,087,438 (GRCm39) M1V probably null Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn2r105 T C 17: 20,429,016 (GRCm39) R687G probably damaging Het
Vmn2r73 T C 7: 85,521,044 (GRCm39) Y308C possibly damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zfyve9 A G 4: 108,576,898 (GRCm39) V61A possibly damaging Het
Other mutations in Mroh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Mroh8 APN 2 157,058,834 (GRCm39) missense probably damaging 1.00
IGL00691:Mroh8 APN 2 157,080,227 (GRCm39) splice site probably benign
IGL00708:Mroh8 APN 2 157,062,090 (GRCm39) missense probably damaging 1.00
IGL01526:Mroh8 APN 2 157,080,232 (GRCm39) splice site probably benign
IGL01992:Mroh8 APN 2 157,055,616 (GRCm39) missense probably damaging 1.00
IGL02076:Mroh8 APN 2 157,113,882 (GRCm39) critical splice donor site probably null
IGL02308:Mroh8 APN 2 157,096,893 (GRCm39) missense probably damaging 1.00
IGL02592:Mroh8 APN 2 157,058,889 (GRCm39) missense probably damaging 0.96
PIT4378001:Mroh8 UTSW 2 157,070,620 (GRCm39) missense possibly damaging 0.73
PIT4449001:Mroh8 UTSW 2 157,067,454 (GRCm39) missense probably damaging 1.00
R0039:Mroh8 UTSW 2 157,071,849 (GRCm39) missense possibly damaging 0.92
R0039:Mroh8 UTSW 2 157,071,849 (GRCm39) missense possibly damaging 0.92
R0107:Mroh8 UTSW 2 157,067,388 (GRCm39) missense probably benign 0.01
R0511:Mroh8 UTSW 2 157,071,838 (GRCm39) missense probably damaging 1.00
R0523:Mroh8 UTSW 2 157,065,956 (GRCm39) missense probably damaging 1.00
R0619:Mroh8 UTSW 2 157,107,001 (GRCm39) missense possibly damaging 0.69
R1222:Mroh8 UTSW 2 157,083,774 (GRCm39) splice site probably benign
R1418:Mroh8 UTSW 2 157,083,774 (GRCm39) splice site probably benign
R1430:Mroh8 UTSW 2 157,111,445 (GRCm39) missense possibly damaging 0.69
R1458:Mroh8 UTSW 2 157,063,224 (GRCm39) missense probably damaging 1.00
R1509:Mroh8 UTSW 2 157,075,125 (GRCm39) missense probably benign 0.14
R1528:Mroh8 UTSW 2 157,071,975 (GRCm39) missense probably damaging 1.00
R1703:Mroh8 UTSW 2 157,113,896 (GRCm39) missense probably benign 0.01
R1795:Mroh8 UTSW 2 157,111,471 (GRCm39) missense probably benign 0.16
R1982:Mroh8 UTSW 2 157,113,895 (GRCm39) missense possibly damaging 0.52
R3922:Mroh8 UTSW 2 157,064,731 (GRCm39) missense probably benign 0.03
R4024:Mroh8 UTSW 2 157,098,272 (GRCm39) missense probably benign 0.32
R4200:Mroh8 UTSW 2 157,083,730 (GRCm39) missense probably benign 0.10
R4492:Mroh8 UTSW 2 157,099,960 (GRCm39) missense probably damaging 1.00
R4900:Mroh8 UTSW 2 157,070,647 (GRCm39) missense probably benign 0.05
R5396:Mroh8 UTSW 2 157,070,576 (GRCm39) missense possibly damaging 0.92
R5464:Mroh8 UTSW 2 157,063,150 (GRCm39) missense probably damaging 1.00
R6008:Mroh8 UTSW 2 157,094,984 (GRCm39) missense probably benign 0.40
R6220:Mroh8 UTSW 2 157,075,083 (GRCm39) missense probably benign
R6661:Mroh8 UTSW 2 157,067,547 (GRCm39) missense probably benign
R7000:Mroh8 UTSW 2 157,058,897 (GRCm39) missense probably benign 0.03
R7024:Mroh8 UTSW 2 157,063,183 (GRCm39) missense probably benign
R7221:Mroh8 UTSW 2 157,071,837 (GRCm39) missense probably benign 0.06
R7549:Mroh8 UTSW 2 157,111,492 (GRCm39) missense probably benign 0.01
R7593:Mroh8 UTSW 2 157,071,867 (GRCm39) missense probably damaging 1.00
R7604:Mroh8 UTSW 2 157,111,484 (GRCm39) missense possibly damaging 0.75
R8316:Mroh8 UTSW 2 157,071,879 (GRCm39) missense possibly damaging 0.93
R8371:Mroh8 UTSW 2 157,094,896 (GRCm39) nonsense probably null
R8795:Mroh8 UTSW 2 157,067,493 (GRCm39) missense probably damaging 0.96
R8797:Mroh8 UTSW 2 157,071,876 (GRCm39) missense probably damaging 1.00
R8801:Mroh8 UTSW 2 157,075,086 (GRCm39) missense probably damaging 1.00
R8850:Mroh8 UTSW 2 157,083,673 (GRCm39) missense probably damaging 1.00
R9002:Mroh8 UTSW 2 157,058,939 (GRCm39) missense probably damaging 1.00
R9021:Mroh8 UTSW 2 157,064,787 (GRCm39) missense probably benign 0.06
R9110:Mroh8 UTSW 2 157,055,605 (GRCm39) missense possibly damaging 0.82
R9189:Mroh8 UTSW 2 157,111,545 (GRCm39) missense probably damaging 0.97
R9224:Mroh8 UTSW 2 157,063,069 (GRCm39) missense possibly damaging 0.83
R9225:Mroh8 UTSW 2 157,107,010 (GRCm39) missense probably damaging 0.99
R9387:Mroh8 UTSW 2 157,098,386 (GRCm39) missense possibly damaging 0.75
R9453:Mroh8 UTSW 2 157,071,948 (GRCm39) missense possibly damaging 0.55
R9485:Mroh8 UTSW 2 157,071,913 (GRCm39) missense probably benign 0.34
R9652:Mroh8 UTSW 2 157,094,970 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTTGAATCACAGTCACTTGTGTTT -3'
(R):5'- CCAGTCTTGTGCAGGAACCATA -3'

Sequencing Primer
(F):5'- CACAGTCACTTGTGTTTTTATTGCTG -3'
(R):5'- GTAGACCAGACTTGCCTTGAACTG -3'
Posted On 2015-04-30