Incidental Mutation 'R8316:Mroh8'
ID 641673
Institutional Source Beutler Lab
Gene Symbol Mroh8
Ensembl Gene ENSMUSG00000074627
Gene Name maestro heat-like repeat family member 8
Synonyms 4922505G16Rik
MMRRC Submission 067854-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R8316 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 157050470-157121469 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 157071879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 542 (T542K)
Ref Sequence ENSEMBL: ENSMUSP00000124362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143663]
AlphaFold E9PYI4
Predicted Effect possibly damaging
Transcript: ENSMUST00000143663
AA Change: T542K

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124362
Gene: ENSMUSG00000074627
AA Change: T542K

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (56/57)
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
2610008E11Rik A C 10: 78,903,573 (GRCm39) C248G probably damaging Het
4933427D14Rik A T 11: 72,059,612 (GRCm39) V693E possibly damaging Het
Abcc10 G T 17: 46,638,735 (GRCm39) L42I probably damaging Het
Alb A G 5: 90,616,449 (GRCm39) E318G probably benign Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Aox4 T A 1: 58,293,470 (GRCm39) C941S possibly damaging Het
Aqp9 A G 9: 71,045,495 (GRCm39) V38A probably benign Het
AW209491 A G 13: 14,812,349 (GRCm39) T401A probably damaging Het
Ccdc57 C T 11: 120,776,742 (GRCm39) A553T probably damaging Het
Celf2 C T 2: 6,551,914 (GRCm39) D522N probably benign Het
Cfap210 A G 2: 69,612,287 (GRCm39) probably null Het
Cmpk2 A G 12: 26,524,136 (GRCm39) N311S probably damaging Het
Dcn T C 10: 97,330,939 (GRCm39) I91T probably damaging Het
Defa30 G A 8: 21,624,709 (GRCm39) V11I probably benign Het
Dnmt3a T A 12: 3,946,965 (GRCm39) V397E probably benign Het
Ehhadh G A 16: 21,585,053 (GRCm39) A276V probably benign Het
Fibcd1 T C 2: 31,723,791 (GRCm39) probably benign Het
Gpr156 A G 16: 37,818,336 (GRCm39) D344G probably null Het
H2-T5 A G 17: 36,479,154 (GRCm39) S32P unknown Het
Invs G T 4: 48,426,199 (GRCm39) R995S possibly damaging Het
Itpr3 T C 17: 27,325,199 (GRCm39) M1264T possibly damaging Het
Lzic C T 4: 149,572,527 (GRCm39) A39V probably benign Het
Marchf6 A G 15: 31,482,650 (GRCm39) L516P possibly damaging Het
Mecom C T 3: 30,011,529 (GRCm39) E591K probably benign Het
Mical3 T C 6: 120,911,944 (GRCm39) D1916G probably damaging Het
Mms22l T C 4: 24,578,855 (GRCm39) I738T probably damaging Het
Mroh2b G A 15: 4,980,746 (GRCm39) W1438* probably null Het
Msl1 A T 11: 98,691,074 (GRCm39) K416I probably damaging Het
Myh15 C A 16: 48,940,381 (GRCm39) T777N probably damaging Het
Or51a10 A T 7: 103,698,829 (GRCm39) V244E probably damaging Het
Or5p5 G T 7: 107,414,030 (GRCm39) V82F possibly damaging Het
Or5p58 A G 7: 107,694,450 (GRCm39) F109S probably benign Het
Or6c70 A G 10: 129,709,891 (GRCm39) V245A probably damaging Het
Pdzk1ip1 T A 4: 114,946,323 (GRCm39) V61D probably benign Het
Plcxd1 A T 5: 110,250,180 (GRCm39) M212L probably benign Het
Pld1 A G 3: 28,078,361 (GRCm39) T7A probably benign Het
Ppm1n T C 7: 19,012,302 (GRCm39) D310G probably damaging Het
Prpf8 A G 11: 75,390,641 (GRCm39) N1264S possibly damaging Het
Pum2 T A 12: 8,763,456 (GRCm39) N204K possibly damaging Het
Recql5 G A 11: 115,784,861 (GRCm39) T822I possibly damaging Het
Rfc1 T C 5: 65,436,077 (GRCm39) T656A probably benign Het
Sacs T C 14: 61,427,068 (GRCm39) Y159H possibly damaging Het
Septin14 A G 5: 129,773,194 (GRCm39) S148P probably damaging Het
Slco1c1 T A 6: 141,492,640 (GRCm39) M341K probably benign Het
Smok2a T C 17: 13,445,160 (GRCm39) S246P probably damaging Het
Spata9 C A 13: 76,125,890 (GRCm39) S124R possibly damaging Het
Sri A G 5: 8,113,317 (GRCm39) N103D probably damaging Het
Sspo G A 6: 48,459,622 (GRCm39) C3327Y probably damaging Het
Trank1 A G 9: 111,178,370 (GRCm39) M353V probably benign Het
Trim80 A T 11: 115,332,006 (GRCm39) E66V probably damaging Het
Txndc16 A G 14: 45,448,641 (GRCm39) L73P probably damaging Het
Ugt2b34 T A 5: 87,039,249 (GRCm39) M471L probably damaging Het
Ush2a G T 1: 188,178,899 (GRCm39) V1357L probably benign Het
Usp15 G T 10: 122,959,848 (GRCm39) P855T Het
Uspl1 C T 5: 149,135,491 (GRCm39) T290I possibly damaging Het
Zbtb2 A C 10: 4,319,084 (GRCm39) M314R probably benign Het
Zcchc2 A G 1: 105,959,844 (GRCm39) Y1151C probably damaging Het
Zmat3 T C 3: 32,395,670 (GRCm39) Y279C probably 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
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
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
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'- TGAAGAATCCAGTCCAGTGTCC -3'
(R):5'- CAGAAATATTGTGTCTTCTATCCCC -3'

Sequencing Primer
(F):5'- GAAGAATCCAGTCCAGTGTCCTTTAG -3'
(R):5'- TCACCCCTCAGAAGATGCTAC -3'
Posted On 2020-07-28