Incidental Mutation 'R5869:Mroh3'
ID 490492
Institutional Source Beutler Lab
Gene Symbol Mroh3
Ensembl Gene ENSMUSG00000087230
Gene Name maestro heat-like repeat family member 3
Synonyms
MMRRC Submission 044077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5869 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 136181652-136212828 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136186123 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 643 (M643L)
Ref Sequence ENSEMBL: ENSMUSP00000148632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168561] [ENSMUST00000212798]
AlphaFold A0A1D5RM54
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166708
Predicted Effect probably benign
Transcript: ENSMUST00000168561
SMART Domains Protein: ENSMUSP00000130772
Gene: ENSMUSG00000087230

DomainStartEndE-ValueType
SCOP:d1gw5a_ 126 669 2e-7 SMART
low complexity region 677 684 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168561
Predicted Effect probably benign
Transcript: ENSMUST00000212798
AA Change: M643L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 93% (68/73)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb1 T C 10: 77,325,616 probably benign Het
Arsk T C 13: 76,091,784 E100G probably benign Het
Ascc3 C T 10: 50,842,183 R1991* probably null Het
Aspscr1 T C 11: 120,688,920 I31T possibly damaging Het
Asz1 T C 6: 18,074,940 probably benign Het
Calm5 T A 13: 3,854,321 probably benign Het
Car5a G A 8: 121,916,380 T295I probably benign Het
Ccdc174 T A 6: 91,885,418 probably benign Het
Celsr2 G A 3: 108,413,909 A529V probably damaging Het
Cep192 A G 18: 67,815,864 D252G probably benign Het
Clcnka A G 4: 141,394,965 F217L probably benign Het
Cnot3 A T 7: 3,644,930 probably benign Het
Coro1c A G 5: 113,850,846 probably benign Het
Cstf3 A G 2: 104,659,240 probably null Het
Dcdc2a C T 13: 25,107,730 P233S probably benign Het
Ddx55 A G 5: 124,568,682 T581A probably benign Het
Exo1 T C 1: 175,901,283 S638P possibly damaging Het
Fam135a T C 1: 24,029,430 E616G possibly damaging Het
Fignl2 T C 15: 101,053,280 S374G unknown Het
Gm4799 A T 10: 82,954,449 noncoding transcript Het
Hectd4 T C 5: 121,343,225 probably null Het
Ighv1-76 T C 12: 115,848,038 E65G probably damaging Het
Igsf9b C A 9: 27,323,235 H465Q probably benign Het
Itga9 A G 9: 118,663,889 D284G probably damaging Het
Itpr1 T C 6: 108,473,529 S1940P probably benign Het
Kcnb1 A G 2: 167,188,071 S185P probably benign Het
Kif20a G A 18: 34,632,415 A822T probably benign Het
Krt1 A T 15: 101,850,131 F199L probably damaging Het
Lpin2 A G 17: 71,232,276 probably benign Het
Lrp1b A C 2: 41,004,603 D2204E probably damaging Het
Mier3 T A 13: 111,714,850 N427K probably damaging Het
Mmp12 GTAATAATAATAATAATAAT GTAATAATAATAATAAT 9: 7,348,446 probably benign Het
Myh11 A G 16: 14,230,800 S548P probably damaging Het
Nat8f6 A C 6: 85,808,523 L215V possibly damaging Het
Nlrp3 G A 11: 59,548,134 R179Q probably damaging Het
Nup88 T C 11: 70,969,671 E94G probably benign Het
Pias1 A T 9: 62,912,766 D306E probably benign Het
Pick1 A G 15: 79,248,895 D385G probably benign Het
Pitx3 A T 19: 46,137,296 probably benign Het
Plpp3 T A 4: 105,194,962 probably null Het
Prlhr C A 19: 60,467,621 R169L probably damaging Het
Ptprf A C 4: 118,210,382 M1872R probably damaging Het
Ptprh T C 7: 4,601,940 D35G probably benign Het
Rnf130 A G 11: 50,085,815 probably null Het
Rnf17 A C 14: 56,505,988 E1337A possibly damaging Het
Sdk2 A G 11: 113,851,882 Y734H probably damaging Het
Slc25a10 C T 11: 120,498,117 T269I probably damaging Het
Slc4a11 A C 2: 130,684,459 V855G probably benign Het
Slc5a5 C A 8: 70,892,330 R111L probably damaging Het
Spg20 A T 3: 55,135,510 M616L probably benign Het
Tmem229a T C 6: 24,954,687 D356G probably damaging Het
Tmem30c A G 16: 57,266,562 S293P probably damaging Het
Tnfrsf14 C A 4: 154,926,598 probably null Het
Tnfrsf19 C T 14: 60,971,178 R298H possibly damaging Het
Ttc21a A G 9: 119,958,792 K809E probably benign Het
Ttn G A 2: 76,750,209 P23447S probably damaging Het
Uap1 T A 1: 170,151,138 probably null Het
Wdr82 A G 9: 106,185,304 Q252R probably benign Het
Zfp523 T C 17: 28,194,993 I34T probably benign Het
Zfp808 T A 13: 62,171,255 H99Q probably damaging Het
Other mutations in Mroh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0087:Mroh3 UTSW 1 136190803 missense probably benign 0.00
R0507:Mroh3 UTSW 1 136190980 missense probably damaging 1.00
R0638:Mroh3 UTSW 1 136191002 missense probably damaging 1.00
R0742:Mroh3 UTSW 1 136190980 missense probably damaging 1.00
R1728:Mroh3 UTSW 1 136192144 missense possibly damaging 0.80
R1729:Mroh3 UTSW 1 136192144 missense possibly damaging 0.80
R1730:Mroh3 UTSW 1 136192144 missense possibly damaging 0.80
R1739:Mroh3 UTSW 1 136192144 missense possibly damaging 0.80
R1762:Mroh3 UTSW 1 136192144 missense possibly damaging 0.80
R1783:Mroh3 UTSW 1 136192144 missense possibly damaging 0.80
R1784:Mroh3 UTSW 1 136192144 missense possibly damaging 0.80
R1785:Mroh3 UTSW 1 136192144 missense possibly damaging 0.80
R1862:Mroh3 UTSW 1 136185988 missense probably benign 0.01
R1883:Mroh3 UTSW 1 136206993 missense probably damaging 1.00
R2166:Mroh3 UTSW 1 136186053 missense probably benign 0.03
R2566:Mroh3 UTSW 1 136198126 missense probably damaging 1.00
R3713:Mroh3 UTSW 1 136185976 missense probably benign 0.01
R3788:Mroh3 UTSW 1 136185475 missense probably damaging 1.00
R4672:Mroh3 UTSW 1 136190975 missense probably benign 0.09
R4747:Mroh3 UTSW 1 136185499 missense probably benign 0.00
R4855:Mroh3 UTSW 1 136200939 critical splice donor site probably null
R5171:Mroh3 UTSW 1 136191656 missense possibly damaging 0.82
R5296:Mroh3 UTSW 1 136196323 missense probably damaging 0.98
R6347:Mroh3 UTSW 1 136200937 splice site probably null
R6531:Mroh3 UTSW 1 136184353 missense probably benign 0.01
R6675:Mroh3 UTSW 1 136190812 missense possibly damaging 0.65
R7015:Mroh3 UTSW 1 136183331 missense probably damaging 1.00
R7587:Mroh3 UTSW 1 136190998 missense probably benign 0.09
R7657:Mroh3 UTSW 1 136181794 missense possibly damaging 0.92
R9007:Mroh3 UTSW 1 136200372 missense probably damaging 1.00
R9059:Mroh3 UTSW 1 136181795 missense probably benign 0.26
R9219:Mroh3 UTSW 1 136191639 missense probably benign 0.00
R9612:Mroh3 UTSW 1 136190975 missense probably benign 0.01
R9698:Mroh3 UTSW 1 136186714 missense probably damaging 0.98
Z1177:Mroh3 UTSW 1 136192136 missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GCAATGTCTTGATCCCTCAGG -3'
(R):5'- ACCTCTTCCCATGAAGGACAGG -3'

Sequencing Primer
(F):5'- GGACTTTACCTCCTCAAAGAAGTGG -3'
(R):5'- CCCATGAAGGACAGGAGGCTG -3'
Posted On 2017-10-20