Incidental Mutation 'R6675:Mroh3'
ID 527229
Institutional Source Beutler Lab
Gene Symbol Mroh3
Ensembl Gene ENSMUSG00000087230
Gene Name maestro heat-like repeat family member 3
Synonyms 2310006M14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R6675 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 136109390-136140566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 136118550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 558 (S558T)
Ref Sequence ENSEMBL: ENSMUSP00000148632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168561] [ENSMUST00000212798]
AlphaFold A0A1D5RM54
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 possibly damaging
Transcript: ENSMUST00000212798
AA Change: S558T

PolyPhen 2 Score 0.649 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,006,302 (GRCm39) T1268A probably benign Het
Adamts20 A G 15: 94,229,197 (GRCm39) probably null Het
Arhgap45 G T 10: 79,853,938 (GRCm39) D151Y probably null Het
Arhgef40 C A 14: 52,229,098 (GRCm39) L592I probably damaging Het
Ascc3 G T 10: 50,626,659 (GRCm39) E1720* probably null Het
Atp2c1 C T 9: 105,330,732 (GRCm39) probably null Het
Avpi1 G A 19: 42,112,183 (GRCm39) P125L probably benign Het
Cers3 A T 7: 66,435,844 (GRCm39) T232S possibly damaging Het
Cfap53 T C 18: 74,440,447 (GRCm39) probably null Het
Col4a3 T C 1: 82,646,646 (GRCm39) S386P unknown Het
Dhtkd1 A T 2: 5,908,889 (GRCm39) M735K probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Gad2 T C 2: 22,563,997 (GRCm39) V400A possibly damaging Het
Gm10801 TC TCGCC 2: 98,494,151 (GRCm39) probably benign Het
Hmgxb3 T G 18: 61,270,648 (GRCm39) D892A possibly damaging Het
Hsd3b2 G A 3: 98,620,788 (GRCm39) T89I probably benign Het
Iars1 C A 13: 49,873,054 (GRCm39) A713D probably damaging Het
Itih1 G A 14: 30,651,798 (GRCm39) T848I possibly damaging Het
Kcne2 A G 16: 92,093,512 (GRCm39) D13G probably benign Het
Klra17 T A 6: 129,849,286 (GRCm39) N96I probably damaging Het
Lrig2 T C 3: 104,365,251 (GRCm39) N634D probably benign Het
Mrc2 T A 11: 105,233,906 (GRCm39) probably null Het
Ncapg2 G T 12: 116,398,281 (GRCm39) K627N possibly damaging Het
Ncstn A T 1: 171,899,095 (GRCm39) D345E probably damaging Het
Nkx1-1 G T 5: 33,591,223 (GRCm39) A33E unknown Het
Or2n1 T A 17: 38,486,905 (GRCm39) M310K probably benign Het
Or51f2 A G 7: 102,526,480 (GRCm39) E51G possibly damaging Het
Osbpl9 G T 4: 108,991,025 (GRCm39) probably null Het
P2rx6 T C 16: 17,380,032 (GRCm39) V52A probably benign Het
Pcdhgb5 C T 18: 37,864,255 (GRCm39) L17F probably damaging Het
Pdk2 T C 11: 94,919,568 (GRCm39) I273V probably benign Het
Pdpr C T 8: 111,828,532 (GRCm39) Q12* probably null Het
Plxdc2 A G 2: 16,716,932 (GRCm39) T339A probably benign Het
Pramel27 G A 4: 143,579,828 (GRCm39) C471Y probably damaging Het
Retsat T C 6: 72,578,672 (GRCm39) V128A probably benign Het
Rnf17 A G 14: 56,697,432 (GRCm39) E442G probably damaging Het
Sec31b T C 19: 44,512,214 (GRCm39) N560S probably benign Het
Slc22a16 C T 10: 40,449,836 (GRCm39) Q91* probably null Het
Slc24a5 G T 2: 124,922,615 (GRCm39) A126S possibly damaging Het
Slc26a4 A T 12: 31,590,512 (GRCm39) D380E possibly damaging Het
Stc2 T A 11: 31,310,307 (GRCm39) D243V probably benign Het
Tshz2 G T 2: 169,727,965 (GRCm39) A385S probably damaging Het
Vmn1r113 G A 7: 20,521,903 (GRCm39) G232S probably benign Het
Vmn1r77 A G 7: 11,775,382 (GRCm39) T53A probably damaging Het
Zeb2 A T 2: 44,887,457 (GRCm39) Y518* probably null Het
Zfp760 T A 17: 21,941,991 (GRCm39) S389T possibly damaging Het
Other mutations in Mroh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0087:Mroh3 UTSW 1 136,118,541 (GRCm39) missense probably benign 0.00
R0507:Mroh3 UTSW 1 136,118,718 (GRCm39) missense probably damaging 1.00
R0638:Mroh3 UTSW 1 136,118,740 (GRCm39) missense probably damaging 1.00
R0742:Mroh3 UTSW 1 136,118,718 (GRCm39) missense probably damaging 1.00
R1728:Mroh3 UTSW 1 136,119,882 (GRCm39) missense possibly damaging 0.80
R1729:Mroh3 UTSW 1 136,119,882 (GRCm39) missense possibly damaging 0.80
R1730:Mroh3 UTSW 1 136,119,882 (GRCm39) missense possibly damaging 0.80
R1739:Mroh3 UTSW 1 136,119,882 (GRCm39) missense possibly damaging 0.80
R1762:Mroh3 UTSW 1 136,119,882 (GRCm39) missense possibly damaging 0.80
R1783:Mroh3 UTSW 1 136,119,882 (GRCm39) missense possibly damaging 0.80
R1784:Mroh3 UTSW 1 136,119,882 (GRCm39) missense possibly damaging 0.80
R1785:Mroh3 UTSW 1 136,119,882 (GRCm39) missense possibly damaging 0.80
R1862:Mroh3 UTSW 1 136,113,726 (GRCm39) missense probably benign 0.01
R1883:Mroh3 UTSW 1 136,134,731 (GRCm39) missense probably damaging 1.00
R2166:Mroh3 UTSW 1 136,113,791 (GRCm39) missense probably benign 0.03
R2566:Mroh3 UTSW 1 136,125,864 (GRCm39) missense probably damaging 1.00
R3713:Mroh3 UTSW 1 136,113,714 (GRCm39) missense probably benign 0.01
R3788:Mroh3 UTSW 1 136,113,213 (GRCm39) missense probably damaging 1.00
R4672:Mroh3 UTSW 1 136,118,713 (GRCm39) missense probably benign 0.09
R4747:Mroh3 UTSW 1 136,113,237 (GRCm39) missense probably benign 0.00
R4855:Mroh3 UTSW 1 136,128,677 (GRCm39) critical splice donor site probably null
R5171:Mroh3 UTSW 1 136,119,394 (GRCm39) missense possibly damaging 0.82
R5296:Mroh3 UTSW 1 136,124,061 (GRCm39) missense probably damaging 0.98
R5869:Mroh3 UTSW 1 136,113,861 (GRCm39) missense probably benign
R6347:Mroh3 UTSW 1 136,128,675 (GRCm39) splice site probably null
R6531:Mroh3 UTSW 1 136,112,091 (GRCm39) missense probably benign 0.01
R7015:Mroh3 UTSW 1 136,111,069 (GRCm39) missense probably damaging 1.00
R7587:Mroh3 UTSW 1 136,118,736 (GRCm39) missense probably benign 0.09
R7657:Mroh3 UTSW 1 136,109,532 (GRCm39) missense possibly damaging 0.92
R9007:Mroh3 UTSW 1 136,128,110 (GRCm39) missense probably damaging 1.00
R9059:Mroh3 UTSW 1 136,109,533 (GRCm39) missense probably benign 0.26
R9219:Mroh3 UTSW 1 136,119,377 (GRCm39) missense probably benign 0.00
R9612:Mroh3 UTSW 1 136,118,713 (GRCm39) missense probably benign 0.01
R9698:Mroh3 UTSW 1 136,114,452 (GRCm39) missense probably damaging 0.98
Z1177:Mroh3 UTSW 1 136,119,874 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- TGGTCACAGTTGCTTCCCTG -3'
(R):5'- TCTTCTGTAGAGGCACTGAAGAC -3'

Sequencing Primer
(F):5'- GGAAGATGTCCCCACTGC -3'
(R):5'- GGCACTGAAGACCTTAATGCGC -3'
Posted On 2018-07-23