Incidental Mutation 'R0039:Mroh8'
ID18582
Institutional Source Beutler Lab
Gene Symbol Mroh8
Ensembl Gene ENSMUSG00000074627
Gene Namemaestro heat-like repeat family member 8
Synonyms4922505G16Rik
MMRRC Submission 038333-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.904) question?
Stock #R0039 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location157208550-157279549 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 157229929 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 552 (H552R)
Ref Sequence ENSEMBL: ENSMUSP00000124362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143663]
Predicted Effect possibly damaging
Transcript: ENSMUST00000143663
AA Change: H552R

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: H552R

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 0.1998 question?
Coding Region Coverage
  • 1x: 82.5%
  • 3x: 74.4%
  • 10x: 54.3%
  • 20x: 37.4%
Validation Efficiency 95% (60/63)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap5 C T 12: 52,518,735 Q830* probably null Het
Atic A T 1: 71,577,850 E523V possibly damaging Het
Cass4 T A 2: 172,426,980 F329L probably damaging Het
Cdk17 A T 10: 93,226,778 probably benign Het
Cep120 C T 18: 53,685,961 R886H probably benign Het
Cep170 A C 1: 176,782,495 probably null Het
Dsg3 A G 18: 20,521,484 K82E probably benign Het
Dtd1 C T 2: 144,746,976 R185W probably damaging Het
Glt6d1 C A 2: 25,794,727 probably null Het
Hectd1 T G 12: 51,753,825 E2070A possibly damaging Het
Ifit1bl2 T A 19: 34,619,446 K257* probably null Het
Ighv8-5 T A 12: 115,067,587 T111S possibly damaging Het
Lmtk2 G T 5: 144,166,387 L321F probably damaging Het
Mcoln2 C T 3: 146,183,561 T374M probably damaging Het
Mfn1 T C 3: 32,538,267 probably benign Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Myh2 T A 11: 67,178,277 L304Q probably damaging Het
Prune1 T A 3: 95,262,367 T175S probably damaging Het
Rdh10 C T 1: 16,129,284 T238I probably damaging Het
Rlf T A 4: 121,146,842 H1647L possibly damaging Het
Rreb1 C T 13: 37,899,637 T92M probably damaging Het
Scn9a A T 2: 66,562,444 M268K probably damaging Het
Sec16a A G 2: 26,423,914 V1893A probably benign Het
Snd1 T A 6: 28,745,210 L518Q probably damaging Het
Stat1 T A 1: 52,140,660 V343D probably damaging Het
Topors A G 4: 40,262,772 S171P probably damaging Het
Tubd1 C T 11: 86,549,395 Q82* probably null Het
Unc13c A G 9: 73,669,565 probably benign Het
Wdr43 G T 17: 71,653,492 G590* probably null Het
Other mutations in Mroh8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Mroh8 APN 2 157216914 missense probably damaging 1.00
IGL00691:Mroh8 APN 2 157238307 splice site probably benign
IGL00708:Mroh8 APN 2 157220170 missense probably damaging 1.00
IGL01526:Mroh8 APN 2 157238312 splice site probably benign
IGL01992:Mroh8 APN 2 157213696 missense probably damaging 1.00
IGL02076:Mroh8 APN 2 157271962 critical splice donor site probably null
IGL02308:Mroh8 APN 2 157254973 missense probably damaging 1.00
IGL02592:Mroh8 APN 2 157216969 missense probably damaging 0.96
PIT4378001:Mroh8 UTSW 2 157228700 missense possibly damaging 0.73
PIT4449001:Mroh8 UTSW 2 157225534 missense probably damaging 1.00
R0039:Mroh8 UTSW 2 157229929 missense possibly damaging 0.92
R0107:Mroh8 UTSW 2 157225468 missense probably benign 0.01
R0511:Mroh8 UTSW 2 157229918 missense probably damaging 1.00
R0523:Mroh8 UTSW 2 157224036 missense probably damaging 1.00
R0619:Mroh8 UTSW 2 157265081 missense possibly damaging 0.69
R1222:Mroh8 UTSW 2 157241854 splice site probably benign
R1418:Mroh8 UTSW 2 157241854 splice site probably benign
R1430:Mroh8 UTSW 2 157269525 missense possibly damaging 0.69
R1458:Mroh8 UTSW 2 157221304 missense probably damaging 1.00
R1509:Mroh8 UTSW 2 157233205 missense probably benign 0.14
R1528:Mroh8 UTSW 2 157230055 missense probably damaging 1.00
R1703:Mroh8 UTSW 2 157271976 missense probably benign 0.01
R1795:Mroh8 UTSW 2 157269551 missense probably benign 0.16
R1982:Mroh8 UTSW 2 157271975 missense possibly damaging 0.52
R3922:Mroh8 UTSW 2 157222811 missense probably benign 0.03
R4024:Mroh8 UTSW 2 157256352 missense probably benign 0.32
R4030:Mroh8 UTSW 2 157213720 missense probably damaging 1.00
R4200:Mroh8 UTSW 2 157241810 missense probably benign 0.10
R4492:Mroh8 UTSW 2 157258040 missense probably damaging 1.00
R4900:Mroh8 UTSW 2 157228727 missense probably benign 0.05
R5396:Mroh8 UTSW 2 157228656 missense possibly damaging 0.92
R5464:Mroh8 UTSW 2 157221230 missense probably damaging 1.00
R6008:Mroh8 UTSW 2 157253064 missense probably benign 0.40
R6220:Mroh8 UTSW 2 157233163 missense probably benign
R6661:Mroh8 UTSW 2 157225627 missense probably benign
R7000:Mroh8 UTSW 2 157216977 missense probably benign 0.03
R7024:Mroh8 UTSW 2 157221263 missense probably benign
R7221:Mroh8 UTSW 2 157229917 missense probably benign 0.06
R7549:Mroh8 UTSW 2 157269572 missense probably benign 0.01
R7593:Mroh8 UTSW 2 157229947 missense probably damaging 1.00
R7604:Mroh8 UTSW 2 157269564 missense possibly damaging 0.75
Posted On2013-03-25