Incidental Mutation 'R9070:Mroh5'
ID 723540
Institutional Source Beutler Lab
Gene Symbol Mroh5
Ensembl Gene ENSMUSG00000072487
Gene Name maestro heat-like repeat family member 5
Synonyms Gm628, LOC268816
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R9070 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 73658785-73711520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73656688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 590 (F590L)
Ref Sequence ENSEMBL: ENSMUSP00000118236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071419] [ENSMUST00000110021] [ENSMUST00000151999]
AlphaFold A0A571BEG0
Predicted Effect probably benign
Transcript: ENSMUST00000071419
SMART Domains Protein: ENSMUSP00000071366
Gene: ENSMUSG00000072487

DomainStartEndE-ValueType
low complexity region 173 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110021
Predicted Effect probably damaging
Transcript: ENSMUST00000151999
AA Change: F590L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118236
Gene: ENSMUSG00000072487
AA Change: F590L

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
SCOP:d1gw5a_ 294 635 1e-2 SMART
Meta Mutation Damage Score 0.1442 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 T C 16: 35,100,770 (GRCm39) L774P probably damaging Het
Aldh2 T C 5: 121,707,032 (GRCm39) E495G probably damaging Het
Als2cl T C 9: 110,718,288 (GRCm39) V343A probably benign Het
Antxrl T A 14: 33,793,671 (GRCm39) C466* probably null Het
Aoc1l3 A G 6: 48,965,329 (GRCm39) N446D possibly damaging Het
Arc A G 15: 74,543,833 (GRCm39) L130P probably damaging Het
Barhl1 C A 2: 28,805,423 (GRCm39) R90L probably benign Het
Baz2a A G 10: 127,958,931 (GRCm39) M1149V probably benign Het
Bsn G A 9: 107,987,295 (GRCm39) S106L Het
Calu A G 6: 29,356,567 (GRCm39) E31G probably benign Het
Cdh23 T G 10: 60,173,539 (GRCm39) I1650L probably benign Het
Ceacam9 T C 7: 16,457,787 (GRCm39) V100A possibly damaging Het
Dnaaf9 A T 2: 130,654,793 (GRCm39) S159R possibly damaging Het
Dpyd T G 3: 118,792,892 (GRCm39) I533S probably damaging Het
Fam184a T C 10: 53,514,373 (GRCm39) D1016G possibly damaging Het
Fv1 T A 4: 147,954,414 (GRCm39) W327R probably damaging Het
Gbp7 A G 3: 142,249,762 (GRCm39) D411G probably benign Het
Gldc A T 19: 30,080,404 (GRCm39) D885E probably damaging Het
H4c3 A G 13: 23,882,170 (GRCm39) V88A probably damaging Het
Hdgfl2 T C 17: 56,389,371 (GRCm39) W82R possibly damaging Het
Hif1an A G 19: 44,551,458 (GRCm39) S48G probably benign Het
Itgal C T 7: 126,927,873 (GRCm39) R1023W probably null Het
Kif13a C A 13: 46,905,934 (GRCm39) A1618S probably benign Het
Lrrc57 A G 2: 120,436,565 (GRCm39) L181P probably damaging Het
Mptx2 T A 1: 173,102,119 (GRCm39) D190V probably benign Het
Net1 A G 13: 3,936,103 (GRCm39) I381T probably damaging Het
Nipbl T A 15: 8,368,215 (GRCm39) K1169I possibly damaging Het
Nop9 G A 14: 55,990,757 (GRCm39) R563H probably damaging Het
Obscn A T 11: 59,013,457 (GRCm39) L1130Q probably damaging Het
Or1j13 A T 2: 36,369,268 (GRCm39) S291R probably damaging Het
Or2b2b A T 13: 21,858,985 (GRCm39) M43K probably benign Het
Pcgf1 T A 6: 83,057,076 (GRCm39) H202Q probably damaging Het
Pcnx3 A G 19: 5,715,601 (GRCm39) L1883P probably benign Het
Pde4b T C 4: 102,458,994 (GRCm39) S505P probably damaging Het
Pitpnm2 C A 5: 124,259,375 (GRCm39) R1320L probably damaging Het
Plscr4 C A 9: 92,372,281 (GRCm39) probably benign Het
Pot1a C T 6: 25,744,629 (GRCm39) R625Q Het
Pou4f1 A G 14: 104,704,067 (GRCm39) S122P probably damaging Het
Ppl A G 16: 4,907,208 (GRCm39) V1029A probably benign Het
Prex1 A G 2: 166,427,707 (GRCm39) F982L probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Rbks A G 5: 31,854,890 (GRCm39) V19A probably benign Het
Rps18-ps5 A G 13: 28,441,902 (GRCm39) Y95C probably benign Het
Rps20 A T 4: 3,835,280 (GRCm39) D5E probably benign Het
Sacs C A 14: 61,447,751 (GRCm39) P3266T probably benign Het
Septin7 A G 9: 25,175,507 (GRCm39) probably benign Het
Slc28a2b A G 2: 122,352,154 (GRCm39) T331A probably damaging Het
Tasor T C 14: 27,194,484 (GRCm39) V1228A probably benign Het
Trdv5 T C 14: 54,386,258 (GRCm39) D69G probably damaging Het
Treml4 G T 17: 48,576,781 (GRCm39) G180C probably damaging Het
Other mutations in Mroh5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Mroh5 APN 15 73,664,638 (GRCm39) splice site probably benign
IGL00466:Mroh5 APN 15 73,664,638 (GRCm39) splice site probably benign
IGL02937:Mroh5 APN 15 73,661,827 (GRCm39) missense probably damaging 1.00
R0102:Mroh5 UTSW 15 73,691,199 (GRCm39) missense probably benign 0.07
R0321:Mroh5 UTSW 15 73,661,892 (GRCm39) missense probably damaging 1.00
R0433:Mroh5 UTSW 15 73,662,657 (GRCm39) missense probably damaging 1.00
R0433:Mroh5 UTSW 15 73,661,877 (GRCm39) missense probably benign 0.01
R0707:Mroh5 UTSW 15 73,662,588 (GRCm39) missense possibly damaging 0.48
R1666:Mroh5 UTSW 15 73,659,754 (GRCm39) missense probably benign 0.43
R1668:Mroh5 UTSW 15 73,659,754 (GRCm39) missense probably benign 0.43
R2139:Mroh5 UTSW 15 73,661,940 (GRCm39) missense probably damaging 1.00
R2269:Mroh5 UTSW 15 73,664,997 (GRCm39) missense probably benign 0.02
R4078:Mroh5 UTSW 15 73,657,889 (GRCm39) missense possibly damaging 0.79
R4420:Mroh5 UTSW 15 73,654,923 (GRCm39) small deletion probably benign
R4460:Mroh5 UTSW 15 73,663,645 (GRCm39) missense probably damaging 0.97
R4585:Mroh5 UTSW 15 73,661,120 (GRCm39) missense probably benign 0.38
R5285:Mroh5 UTSW 15 73,654,923 (GRCm39) small deletion probably benign
R5287:Mroh5 UTSW 15 73,654,923 (GRCm39) small deletion probably benign
R5437:Mroh5 UTSW 15 73,659,818 (GRCm39) missense probably benign 0.02
R5760:Mroh5 UTSW 15 73,693,356 (GRCm39) missense probably damaging 0.98
R5972:Mroh5 UTSW 15 73,662,568 (GRCm39) critical splice donor site probably null
R6192:Mroh5 UTSW 15 73,662,630 (GRCm39) missense probably damaging 1.00
R6457:Mroh5 UTSW 15 73,662,691 (GRCm39) missense probably damaging 1.00
R6477:Mroh5 UTSW 15 73,662,604 (GRCm39) missense probably damaging 1.00
R6776:Mroh5 UTSW 15 73,661,817 (GRCm39) critical splice donor site probably null
R6979:Mroh5 UTSW 15 73,664,978 (GRCm39) missense probably benign 0.16
R7238:Mroh5 UTSW 15 73,663,278 (GRCm39) critical splice acceptor site probably null
R7406:Mroh5 UTSW 15 73,659,583 (GRCm39) missense probably benign 0.38
R7853:Mroh5 UTSW 15 73,663,189 (GRCm39) missense probably benign 0.00
R7973:Mroh5 UTSW 15 73,664,614 (GRCm39) nonsense probably null
R8215:Mroh5 UTSW 15 73,691,139 (GRCm39) missense probably damaging 0.96
R8251:Mroh5 UTSW 15 73,655,002 (GRCm39) missense probably benign 0.01
R8771:Mroh5 UTSW 15 73,693,203 (GRCm39) missense possibly damaging 0.92
R9032:Mroh5 UTSW 15 73,655,302 (GRCm39) missense probably benign 0.00
R9238:Mroh5 UTSW 15 73,663,586 (GRCm39) missense probably benign 0.05
R9321:Mroh5 UTSW 15 73,661,113 (GRCm39) missense probably benign 0.00
X0024:Mroh5 UTSW 15 73,659,570 (GRCm39) missense probably benign 0.01
Z1088:Mroh5 UTSW 15 73,659,880 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GGAAGTGAGGAGCTGGGGA -3'
(R):5'- CTGCTGCACAGGAAGAAGG -3'

Sequencing Primer
(F):5'- CTGGGGAGGTGAGAAGCTG -3'
(R):5'- CTGAACCTGCATTTGGGAAAC -3'
Posted On 2022-08-18