Incidental Mutation 'IGL02308:Mroh8'
ID287685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mroh8
Ensembl Gene ENSMUSG00000074627
Gene Namemaestro heat-like repeat family member 8
Synonyms4922505G16Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.926) question?
Stock #IGL02308
Quality Score
Status
Chromosome2
Chromosomal Location157208550-157279549 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 157254973 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 318 (V318A)
Ref Sequence ENSEMBL: ENSMUSP00000124362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143663]
Predicted Effect probably damaging
Transcript: ENSMUST00000143663
AA Change: V318A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: V318A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147602
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G A 11: 72,202,482 S8F probably damaging Het
Alpk1 T A 3: 127,729,282 Q37L probably damaging Het
Cfap43 T C 19: 47,748,024 T1343A probably benign Het
Cmbl C A 15: 31,585,408 P146Q possibly damaging Het
Cog2 A T 8: 124,533,212 probably null Het
Dgkh C A 14: 78,587,576 V880L probably benign Het
Dopey1 T C 9: 86,520,088 S1114P probably damaging Het
Eif5b T A 1: 38,041,747 V723D probably damaging Het
Gdf11 A G 10: 128,885,384 Y314H probably damaging Het
Gm10110 T C 14: 89,897,595 noncoding transcript Het
Gm960 T C 19: 4,663,555 K132E probably damaging Het
Gria1 G A 11: 57,236,924 V320I probably benign Het
H2-Q10 T A 17: 35,473,566 *326R probably null Het
Irx6 T A 8: 92,677,031 L128Q probably damaging Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Lama5 A G 2: 180,190,327 probably benign Het
Mios A G 6: 8,231,269 I718V probably benign Het
Nags A G 11: 102,149,071 *528W probably null Het
Nom1 T A 5: 29,437,710 V403D probably damaging Het
Npffr2 C A 5: 89,583,451 N413K probably benign Het
Olfr394 A T 11: 73,888,295 Y26N probably benign Het
Olfr671 T A 7: 104,975,458 I176F possibly damaging Het
Olr1 C T 6: 129,499,897 R135K possibly damaging Het
Pkhd1 A G 1: 20,070,376 probably null Het
Ptpro A G 6: 137,454,700 M1158V probably benign Het
Sh3d19 A G 3: 86,093,710 K238E probably damaging Het
Smarcc2 G T 10: 128,482,772 R641L probably damaging Het
Th T C 7: 142,898,057 E75G possibly damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Ttn G A 2: 76,894,361 R2107* probably null Het
Ubr2 A T 17: 46,934,193 C1636S probably damaging Het
Vmn2r100 T A 17: 19,521,335 I103K possibly damaging Het
Vmn2r88 A G 14: 51,417,980 M558V possibly damaging Het
Zzef1 G A 11: 72,886,747 M1801I probably benign 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
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
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 On2015-04-16