Incidental Mutation 'IGL02937:Mroh5'
ID 364373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mroh5
Ensembl Gene ENSMUSG00000072487
Gene Name maestro heat-like repeat family member 5
Synonyms Gm628, LOC268816
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02937
Quality Score
Status
Chromosome 15
Chromosomal Location 73658785-73711520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73661827 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 455 (C455R)
Ref Sequence ENSEMBL: ENSMUSP00000118236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071419] [ENSMUST00000110021] [ENSMUST00000151999]
AlphaFold A0A571BEG0
Predicted Effect probably damaging
Transcript: ENSMUST00000071419
AA Change: C287R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071366
Gene: ENSMUSG00000072487
AA Change: C287R

DomainStartEndE-ValueType
low complexity region 173 184 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110021
AA Change: C290R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000151999
AA Change: C455R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118236
Gene: ENSMUSG00000072487
AA Change: C455R

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
SCOP:d1gw5a_ 294 635 1e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,206,049 (GRCm39) C21Y probably damaging Het
4933427D06Rik T C 6: 89,085,127 (GRCm39) noncoding transcript Het
5730480H06Rik A G 5: 48,536,783 (GRCm39) I160V probably benign Het
Arhgap29 G A 3: 121,767,698 (GRCm39) E47K probably damaging Het
Arhgef12 T A 9: 42,927,216 (GRCm39) S303C probably damaging Het
Bap1 A G 14: 30,980,284 (GRCm39) N644S probably benign Het
Cc2d1b A G 4: 108,489,091 (GRCm39) E796G probably damaging Het
Cfh C A 1: 140,033,180 (GRCm39) R788L probably benign Het
Cldn1 A G 16: 26,179,623 (GRCm39) F148S probably damaging Het
Cryzl1 A G 16: 91,487,619 (GRCm39) M292T possibly damaging Het
Cyp11b1 T C 15: 74,708,408 (GRCm39) R385G possibly damaging Het
Cyp4f37 T C 17: 32,844,163 (GRCm39) L89P probably benign Het
Dach1 A G 14: 98,153,231 (GRCm39) probably null Het
Dhtkd1 A G 2: 5,922,716 (GRCm39) I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 (GRCm39) D44E probably damaging Het
Dsg1a T A 18: 20,464,591 (GRCm39) I362N possibly damaging Het
Ecm2 T A 13: 49,671,952 (GRCm39) I151N probably damaging Het
Far1 T A 7: 113,139,855 (GRCm39) I101N probably damaging Het
Gm21985 T C 2: 112,172,207 (GRCm39) S384P probably benign Het
Gnb5 T C 9: 75,247,471 (GRCm39) Y247H probably damaging Het
Golgb1 A G 16: 36,736,572 (GRCm39) K1940E probably damaging Het
Gprc5b A G 7: 118,583,017 (GRCm39) V284A probably benign Het
Idh2 T C 7: 79,748,661 (GRCm39) Y179C probably damaging Het
Kalrn G A 16: 34,040,500 (GRCm39) Q737* probably null Het
Kcnj13 T C 1: 87,314,175 (GRCm39) D349G probably damaging Het
Lgsn A T 1: 31,243,318 (GRCm39) T467S possibly damaging Het
Map9 T A 3: 82,270,819 (GRCm39) S128T possibly damaging Het
Nes A G 3: 87,887,186 (GRCm39) H1771R probably benign Het
Nkain2 T C 10: 32,205,840 (GRCm39) Y65C probably damaging Het
Or51a43 T A 7: 103,718,056 (GRCm39) M61L probably damaging Het
Or51b6b A T 7: 103,310,112 (GRCm39) V115D probably damaging Het
Or6aa1 T C 7: 86,043,798 (GRCm39) K303E possibly damaging Het
Pabpc4l A C 3: 46,400,725 (GRCm39) D306E probably benign Het
Parp12 A T 6: 39,079,515 (GRCm39) Y332N probably damaging Het
Parvb A T 15: 84,193,154 (GRCm39) K316M probably damaging Het
Pde8a T A 7: 80,945,519 (GRCm39) probably benign Het
Polq A G 16: 36,833,471 (GRCm39) T55A probably benign Het
Ppp2r5b T A 19: 6,281,016 (GRCm39) K271M probably damaging Het
Ralgapb A G 2: 158,334,936 (GRCm39) probably null Het
Rigi C T 4: 40,229,661 (GRCm39) C86Y probably benign Het
Skap2 T C 6: 51,886,351 (GRCm39) N175D probably benign Het
Slc44a3 A G 3: 121,303,970 (GRCm39) probably benign Het
Smurf2 G A 11: 106,736,873 (GRCm39) H318Y probably damaging Het
Tbc1d23 T C 16: 57,004,778 (GRCm39) T460A possibly damaging Het
Tcerg1 T C 18: 42,657,414 (GRCm39) S299P unknown Het
Tll1 A C 8: 64,658,319 (GRCm39) Y33* probably null Het
Tmem59 A T 4: 107,054,782 (GRCm39) T196S probably damaging Het
Ttll4 C A 1: 74,718,662 (GRCm39) A171D possibly damaging Het
Ttn T C 2: 76,641,513 (GRCm39) T13528A possibly damaging Het
Ttn A G 2: 76,717,621 (GRCm39) probably benign Het
Xpc C A 6: 91,477,119 (GRCm39) G327W probably damaging Het
Zbtb7a A G 10: 80,980,132 (GRCm39) S109G probably benign Het
Zfyve26 T C 12: 79,285,794 (GRCm39) M2328V probably benign 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
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
R9070:Mroh5 UTSW 15 73,656,688 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-12-18