Incidental Mutation 'R8006:Mro'
ID 616655
Institutional Source Beutler Lab
Gene Symbol Mro
Ensembl Gene ENSMUSG00000064036
Gene Name maestro
MMRRC Submission 046046-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 73859385-73881333 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73877506 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 219 (D219V)
Ref Sequence ENSEMBL: ENSMUSP00000113434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119239] [ENSMUST00000120033] [ENSMUST00000179472]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000119239
AA Change: D218V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113392
Gene: ENSMUSG00000064036
AA Change: D218V

SCOP:d1gw5a_ 23 239 9e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120033
AA Change: D219V

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113434
Gene: ENSMUSG00000064036
AA Change: D219V

SCOP:d1gw5a_ 23 240 3e-10 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000179472
AA Change: D219V

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136775
Gene: ENSMUSG00000064036
AA Change: D219V

SCOP:d1gw5a_ 23 240 3e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal reproductive morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T A 8: 40,795,907 H351Q probably benign Het
Ahnak T C 19: 9,012,083 V3577A possibly damaging Het
Akap13 T C 7: 75,579,696 S126P probably damaging Het
Akip1 A G 7: 109,703,992 D14G probably damaging Het
Ankhd1 A G 18: 36,648,719 R287G Het
Ankrd13a A C 5: 114,804,423 *589S probably null Het
Ankrd34c T C 9: 89,729,836 I151V probably damaging Het
Ano5 T A 7: 51,593,770 D880E probably benign Het
Arl3 A C 19: 46,558,374 L4R probably damaging Het
Ate1 T A 7: 130,467,388 Q340L probably damaging Het
Ccdc38 A T 10: 93,555,586 probably null Het
Celsr3 C T 9: 108,829,107 P930S probably damaging Het
Cox18 C T 5: 90,223,813 V43M probably damaging Het
Ctnna3 A G 10: 63,582,011 K176R probably benign Het
Fam135b T C 15: 71,462,334 T1004A probably benign Het
Fam227a A G 15: 79,634,098 I335T possibly damaging Het
Gm14496 A G 2: 181,995,876 I248V probably benign Het
Gm4788 A G 1: 139,736,852 Y490H probably damaging Het
Gm5415 T A 1: 32,546,924 probably benign Het
Gm6871 T C 7: 41,545,682 T544A probably benign Het
Grm6 A T 11: 50,864,657 *872L probably null Het
Herc1 T A 9: 66,445,560 Y2109* probably null Het
Hsd11b2 T A 8: 105,519,103 V80E possibly damaging Het
Itgb3 T C 11: 104,665,496 V721A possibly damaging Het
Jade1 A T 3: 41,613,689 I731L probably benign Het
Khnyn G A 14: 55,887,590 V434I probably benign Het
Lrp1 A G 10: 127,589,619 L714P probably damaging Het
Lrrc41 G A 4: 116,094,888 E585K possibly damaging Het
Lrrfip1 A G 1: 91,076,951 Y70C probably damaging Het
Mex3a T A 3: 88,537,086 C490S probably damaging Het
Mmp27 C T 9: 7,578,984 R387C probably damaging Het
Myot T A 18: 44,354,837 L407Q probably damaging Het
Nppa T A 4: 148,001,181 W82R probably damaging Het
Olfr243 T A 7: 103,717,325 C244S probably damaging Het
Olfr981 T G 9: 40,022,474 L27R probably damaging Het
Olfr994 T C 2: 85,429,974 N285S probably damaging Het
Phip T A 9: 82,890,126 I1123L possibly damaging Het
Ppip5k2 A G 1: 97,734,106 I695T probably benign Het
Ppp1r10 A T 17: 35,928,266 M347L probably benign Het
Reln A T 5: 21,899,084 C3296* probably null Het
Slf2 T A 19: 44,942,317 L611Q probably damaging Het
Spire1 G A 18: 67,501,181 Q396* probably null Het
Taf2 A G 15: 55,048,701 F537L probably damaging Het
Tbc1d16 C T 11: 119,156,072 E451K probably damaging Het
Tcof1 G C 18: 60,829,051 A702G possibly damaging Het
Tmem267 T A 13: 119,609,238 V143E probably damaging Het
Tyw1 C T 5: 130,268,072 R177W possibly damaging Het
Vcp A T 4: 42,985,993 H340Q probably benign Het
Vmn2r14 A T 5: 109,220,458 L223M probably benign Het
Wnk4 A G 11: 101,268,356 D533G probably benign Het
Wwp1 A T 4: 19,650,174 C331S probably benign Het
Zik1 A T 7: 10,490,173 C332* probably null Het
Other mutations in Mro
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0471:Mro UTSW 18 73876789 missense probably benign 0.04
R1671:Mro UTSW 18 73870055 splice site probably benign
R1720:Mro UTSW 18 73876735 missense probably benign 0.36
R2267:Mro UTSW 18 73873297 missense probably benign 0.19
R4691:Mro UTSW 18 73873326 missense probably benign
R5382:Mro UTSW 18 73876822 missense probably benign 0.00
R6178:Mro UTSW 18 73873224 missense possibly damaging 0.62
R6427:Mro UTSW 18 73872033 missense probably damaging 1.00
R6833:Mro UTSW 18 73863932 start gained probably benign
R7354:Mro UTSW 18 73873314 missense probably benign 0.00
R7686:Mro UTSW 18 73877439 missense probably benign 0.00
R8277:Mro UTSW 18 73864061 splice site probably benign
R9031:Mro UTSW 18 73876840 critical splice donor site probably null
RF016:Mro UTSW 18 73869964 frame shift probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-01-23