Incidental Mutation 'R6220:Mroh8'
ID 503934
Institutional Source Beutler Lab
Gene Symbol Mroh8
Ensembl Gene ENSMUSG00000074627
Gene Name maestro heat-like repeat family member 8
Synonyms 4922505G16Rik
MMRRC Submission 044352-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R6220 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 157050470-157121469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 157075083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 471 (I471T)
Ref Sequence ENSEMBL: ENSMUSP00000124362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143663]
AlphaFold E9PYI4
Predicted Effect probably benign
Transcript: ENSMUST00000143663
AA Change: I471T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: I471T

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (65/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,135,578 (GRCm39) D160G probably damaging Het
Acap1 A G 11: 69,780,505 (GRCm39) F15S probably damaging Het
Adam30 A T 3: 98,068,625 (GRCm39) S153C probably damaging Het
Afp A T 5: 90,652,269 (GRCm39) D420V possibly damaging Het
Ak9 T A 10: 41,246,095 (GRCm39) H729Q unknown Het
Armh3 T C 19: 45,834,554 (GRCm39) E618G possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bcr A G 10: 74,898,124 (GRCm39) T423A probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ctns T C 11: 73,083,954 (GRCm39) T23A probably benign Het
Ddx54 T A 5: 120,758,754 (GRCm39) N332K probably benign Het
Dysf T A 6: 84,126,727 (GRCm39) I1344N probably damaging Het
Elovl3 A T 19: 46,122,939 (GRCm39) M172L probably benign Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Filip1l T A 16: 57,390,352 (GRCm39) N313K probably benign Het
Foxp2 C A 6: 15,437,947 (GRCm39) T716K probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm10645 A G 8: 83,892,386 (GRCm39) probably benign Het
Gm10735 T C 13: 113,178,030 (GRCm39) probably benign Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gorasp2 T C 2: 70,521,134 (GRCm39) L388P probably damaging Het
Heatr5b A G 17: 79,081,106 (GRCm39) L1382P probably damaging Het
Herc1 A G 9: 66,341,070 (GRCm39) Y1729C probably damaging Het
Ifi207 A T 1: 173,557,112 (GRCm39) L542H probably damaging Het
Ighv3-5 T A 12: 114,226,338 (GRCm39) N96I probably damaging Het
Isl1 T C 13: 116,439,803 (GRCm39) T182A probably benign Het
Jph4 T C 14: 55,347,542 (GRCm39) E421G probably benign Het
Lrrc45 T C 11: 120,610,353 (GRCm39) I488T probably benign Het
Ms4a2 A T 19: 11,594,927 (GRCm39) D96E probably damaging Het
Mst1r T A 9: 107,784,547 (GRCm39) N68K probably benign Het
Myo18b A G 5: 112,905,373 (GRCm39) M2075T possibly damaging Het
Neb T C 2: 52,160,984 (GRCm39) K2229R probably null Het
Nkx6-3 T A 8: 23,643,987 (GRCm39) probably null Het
Nlrp1a C A 11: 71,033,164 (GRCm39) S10I probably benign Het
Npas2 A T 1: 39,375,142 (GRCm39) T487S probably benign Het
Nrxn1 G C 17: 91,395,904 (GRCm39) T84R probably benign Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh18 A G 3: 49,699,700 (GRCm39) C921R probably damaging Het
Pcdha9 A G 18: 37,131,531 (GRCm39) Y200C probably damaging Het
Pknox1 A T 17: 31,822,177 (GRCm39) R315* probably null Het
Rasgrp1 C T 2: 117,115,410 (GRCm39) W726* probably null Het
Rassf8 G A 6: 145,762,859 (GRCm39) R402H probably damaging Het
Rev3l T A 10: 39,698,775 (GRCm39) Y1091N probably damaging Het
Riok3 T G 18: 12,282,608 (GRCm39) V349G probably damaging Het
Rps18 A T 17: 34,174,110 (GRCm39) V15E probably damaging Het
Rptor A T 11: 119,788,268 (GRCm39) Y1323F possibly damaging Het
Rspry1 T C 8: 95,385,378 (GRCm39) C437R probably damaging Het
Sema5a T A 15: 32,686,875 (GRCm39) Y996N probably damaging Het
Smarcad1 A G 6: 65,091,313 (GRCm39) I1011M probably benign Het
Supv3l1 A T 10: 62,274,800 (GRCm39) M295K possibly damaging Het
Sv2c T C 13: 96,113,134 (GRCm39) D605G probably damaging Het
Teddm1b G A 1: 153,750,947 (GRCm39) W252* probably null Het
Tes T A 6: 17,086,195 (GRCm39) C29* probably null Het
Thsd4 A G 9: 59,890,030 (GRCm39) W856R probably damaging Het
Treml4 A T 17: 48,571,876 (GRCm39) D93V possibly damaging Het
Trim66 T C 7: 109,082,300 (GRCm39) T218A probably damaging Het
Tssk5 T C 15: 76,257,973 (GRCm39) D128G probably damaging Het
Ubr3 T A 2: 69,850,819 (GRCm39) W1746R probably damaging Het
Vmn2r11 T C 5: 109,201,434 (GRCm39) I357V probably benign Het
Vmn2r87 A T 10: 130,315,807 (GRCm39) D86E probably benign Het
Zfp184 T G 13: 22,144,377 (GRCm39) H694Q probably damaging Het
Zranb3 A C 1: 127,927,141 (GRCm39) F341L probably benign 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
R4030:Mroh8 UTSW 2 157,055,640 (GRCm39) missense probably damaging 1.00
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
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'- CCTTTGTCGTATTTAGGCAAGTTC -3'
(R):5'- AACCGATGTCTTCTGGCAGG -3'

Sequencing Primer
(F):5'- CAAGTTCTCTTGGTGTTGGGAAAAG -3'
(R):5'- GCAGGTGGGGAGAGACTTTC -3'
Posted On 2018-02-27