Incidental Mutation 'R0321:Mroh5'
ID 35889
Institutional Source Beutler Lab
Gene Symbol Mroh5
Ensembl Gene ENSMUSG00000072487
Gene Name maestro heat-like repeat family member 5
Synonyms LOC268816, Gm628
MMRRC Submission 038531-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock # R0321 (G1)
Quality Score 220
Status Validated
Chromosome 15
Chromosomal Location 73761410-73839699 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73790043 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 433 (G433E)
Ref Sequence ENSEMBL: ENSMUSP00000118236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071419] [ENSMUST00000110021] [ENSMUST00000151999]
AlphaFold A0A571BEG0
Predicted Effect probably benign
Transcript: ENSMUST00000071419
AA Change: G265E

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071366
Gene: ENSMUSG00000072487
AA Change: G265E

DomainStartEndE-ValueType
low complexity region 173 184 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110021
AA Change: G268E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000151999
AA Change: G433E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118236
Gene: ENSMUSG00000072487
AA Change: G433E

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
SCOP:d1gw5a_ 294 635 1e-2 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,472,700 T353A probably benign Het
4932438A13Rik T C 3: 36,906,788 probably null Het
4933402N03Rik T A 7: 131,146,227 Y12F probably benign Het
Acbd3 T G 1: 180,752,305 F505V probably damaging Het
Acod1 T C 14: 103,055,129 V363A probably benign Het
Adam28 T C 14: 68,617,751 Q647R probably damaging Het
Akr1c18 T A 13: 4,135,244 L296F probably damaging Het
Ap1b1 G A 11: 5,032,464 A588T probably benign Het
Armc8 A T 9: 99,533,177 I150K probably damaging Het
Bahcc1 T C 11: 120,273,425 probably null Het
Carmil3 C A 14: 55,502,241 D928E possibly damaging Het
Ccrl2 T C 9: 111,056,211 N73S probably damaging Het
Cdk9 C A 2: 32,712,686 probably benign Het
Cel G T 2: 28,561,148 Q66K probably benign Het
D930028M14Rik T A 7: 25,155,566 noncoding transcript Het
Dgka G C 10: 128,721,083 probably benign Het
Dlg1 T C 16: 31,858,036 V801A probably damaging Het
Dnah10 A G 5: 124,823,352 D3834G probably benign Het
Dnajc15 C T 14: 77,874,833 A23T possibly damaging Het
Ell2 T A 13: 75,761,888 L119Q probably damaging Het
Epha2 T C 4: 141,308,405 W51R probably damaging Het
F10 T C 8: 13,053,413 F266L possibly damaging Het
Fam110a T C 2: 151,970,667 N61S probably benign Het
Fam83c C T 2: 155,829,700 S605N probably benign Het
Fbxw15 C T 9: 109,565,385 V121I probably benign Het
Gart G A 16: 91,623,037 probably benign Het
Gfi1b A G 2: 28,613,885 F101S probably damaging Het
Gimap5 C G 6: 48,750,515 probably benign Het
Gpr180 T C 14: 118,148,287 probably null Het
Gsn T C 2: 35,290,396 F188L probably benign Het
Hivep3 T A 4: 120,095,591 I368N possibly damaging Het
Itih3 T A 14: 30,912,106 I153F probably damaging Het
Kdm8 A T 7: 125,461,006 Q360L probably damaging Het
Lars T C 18: 42,202,632 K1140E probably damaging Het
Mocs1 A G 17: 49,433,258 Y71C probably damaging Het
Mrpl45 T A 11: 97,326,938 probably benign Het
Mtcl1 T A 17: 66,379,431 T827S probably damaging Het
Muc5b T C 7: 141,862,235 S2973P probably benign Het
Mynn T C 3: 30,607,557 S263P probably benign Het
Myo1f A C 17: 33,593,012 D595A probably benign Het
Necab1 A T 4: 14,960,083 I288N probably damaging Het
Nutm2 T G 13: 50,472,955 M382R probably damaging Het
Oprm1 T C 10: 6,829,183 S131P probably damaging Het
Pcsk9 A G 4: 106,444,694 S619P probably benign Het
Phkg1 A T 5: 129,869,524 M1K probably null Het
Pigc C T 1: 161,971,099 Q217* probably null Het
Pik3r4 T A 9: 105,648,707 F259I probably damaging Het
Pkdcc A T 17: 83,222,112 probably benign Het
Pnpla5 G T 15: 84,120,719 L144M probably damaging Het
Prtg A T 9: 72,848,025 I259F possibly damaging Het
Prune2 T G 19: 17,120,927 L1265R possibly damaging Het
Prune2 C T 19: 17,122,454 A1774V probably benign Het
Rcn3 A G 7: 45,088,715 probably benign Het
Rnf213 C T 11: 119,438,105 Q2067* probably null Het
Sec14l1 T A 11: 117,150,742 probably benign Het
Serpinb3a C T 1: 107,047,482 W198* probably null Het
Smpdl3b A T 4: 132,741,444 V154E probably damaging Het
Spag17 T C 3: 100,101,403 S1950P probably damaging Het
Sprr1a T C 3: 92,484,302 T131A probably benign Het
Tatdn2 T G 6: 113,709,501 L690W probably damaging Het
Tbc1d1 T C 5: 64,339,594 F864L probably damaging Het
Tmem8b C A 4: 43,674,444 R243S probably damaging Het
Tnfrsf11a T A 1: 105,844,857 C623* probably null Het
Tprgl T C 4: 154,159,355 N115D probably damaging Het
Ube2t C T 1: 134,967,800 A4V possibly damaging Het
Vps41 G A 13: 18,842,295 probably benign Het
Wdr17 C T 8: 54,696,268 probably null Het
Wwc1 G A 11: 35,841,810 Q1024* probably null Het
Zfand5 T A 19: 21,276,515 N27K probably damaging Het
Zfp142 A T 1: 74,569,714 C1641S probably damaging Het
Zfyve16 A G 13: 92,492,534 I1465T probably damaging Het
Zswim1 G A 2: 164,826,027 G400S probably benign Het
Zswim3 C T 2: 164,820,359 A253V possibly damaging Het
Other mutations in Mroh5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Mroh5 APN 15 73792789 splice site probably benign
IGL00466:Mroh5 APN 15 73792789 splice site probably benign
IGL02937:Mroh5 APN 15 73789978 missense probably damaging 1.00
R0102:Mroh5 UTSW 15 73819350 missense probably benign 0.07
R0433:Mroh5 UTSW 15 73790028 missense probably benign 0.01
R0433:Mroh5 UTSW 15 73790808 missense probably damaging 1.00
R0707:Mroh5 UTSW 15 73790739 missense possibly damaging 0.48
R1666:Mroh5 UTSW 15 73787905 missense probably benign 0.43
R1668:Mroh5 UTSW 15 73787905 missense probably benign 0.43
R2139:Mroh5 UTSW 15 73790091 missense probably damaging 1.00
R2269:Mroh5 UTSW 15 73793148 missense probably benign 0.02
R4078:Mroh5 UTSW 15 73786040 missense possibly damaging 0.79
R4420:Mroh5 UTSW 15 73783074 small deletion probably benign
R4460:Mroh5 UTSW 15 73791796 missense probably damaging 0.97
R4585:Mroh5 UTSW 15 73789271 missense probably benign 0.38
R5285:Mroh5 UTSW 15 73783074 small deletion probably benign
R5287:Mroh5 UTSW 15 73783074 small deletion probably benign
R5437:Mroh5 UTSW 15 73787969 missense probably benign 0.02
R5760:Mroh5 UTSW 15 73821507 missense probably damaging 0.98
R5972:Mroh5 UTSW 15 73790719 critical splice donor site probably null
R6192:Mroh5 UTSW 15 73790781 missense probably damaging 1.00
R6457:Mroh5 UTSW 15 73790842 missense probably damaging 1.00
R6477:Mroh5 UTSW 15 73790755 missense probably damaging 1.00
R6776:Mroh5 UTSW 15 73789968 critical splice donor site probably null
R6979:Mroh5 UTSW 15 73793129 missense probably benign 0.16
R7238:Mroh5 UTSW 15 73791429 critical splice acceptor site probably null
R7406:Mroh5 UTSW 15 73787734 missense probably benign 0.38
R7853:Mroh5 UTSW 15 73791340 missense probably benign 0.00
R7973:Mroh5 UTSW 15 73792765 nonsense probably null
R8215:Mroh5 UTSW 15 73819290 missense probably damaging 0.96
R8251:Mroh5 UTSW 15 73783153 missense probably benign 0.01
R8771:Mroh5 UTSW 15 73821354 missense possibly damaging 0.92
R9032:Mroh5 UTSW 15 73783453 missense probably benign 0.00
R9070:Mroh5 UTSW 15 73784839 missense probably damaging 1.00
R9238:Mroh5 UTSW 15 73791737 missense probably benign 0.05
R9321:Mroh5 UTSW 15 73789264 missense probably benign 0.00
X0024:Mroh5 UTSW 15 73787721 missense probably benign 0.01
Z1088:Mroh5 UTSW 15 73788031 missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- GGCTCCCTGTATCTAAGAAAGCTGC -3'
(R):5'- ACCAAGATCATGCGCTCCTTCC -3'

Sequencing Primer
(F):5'- CTGTATCTAAGAAAGCTGCTGGTC -3'
(R):5'- TTCCTAAGGAAGGCCCTACC -3'
Posted On 2013-05-09