Incidental Mutation 'R2915:Mios'
ID 254838
Institutional Source Beutler Lab
Gene Symbol Mios
Ensembl Gene ENSMUSG00000042447
Gene Name meiosis regulator for oocyte development
Synonyms
MMRRC Submission 040502-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 8209222-8236274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8214935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 44 (R44C)
Ref Sequence ENSEMBL: ENSMUSP00000039301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040017]
AlphaFold Q8VE19
Predicted Effect possibly damaging
Transcript: ENSMUST00000040017
AA Change: R44C

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039301
Gene: ENSMUSG00000042447
AA Change: R44C

DomainStartEndE-ValueType
Blast:WD40 49 91 2e-18 BLAST
WD40 101 146 2.05e1 SMART
WD40 174 212 3.55e1 SMART
WD40 214 252 2.45e2 SMART
WD40 256 297 6.42e-1 SMART
Blast:WD40 312 354 2e-13 BLAST
Pfam:zinc_ribbon_16 737 861 1.3e-26 PFAM
Meta Mutation Damage Score 0.3804 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null Het
Other mutations in Mios
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01089:Mios APN 6 8,234,363 (GRCm39) critical splice donor site probably null
IGL01365:Mios APN 6 8,216,089 (GRCm39) nonsense probably null
IGL01548:Mios APN 6 8,234,252 (GRCm39) missense possibly damaging 0.90
IGL01898:Mios APN 6 8,222,668 (GRCm39) missense probably benign 0.03
IGL02110:Mios APN 6 8,215,565 (GRCm39) missense probably damaging 1.00
IGL02308:Mios APN 6 8,231,269 (GRCm39) missense probably benign 0.06
IGL02375:Mios APN 6 8,222,598 (GRCm39) missense probably benign 0.02
IGL02452:Mios APN 6 8,222,492 (GRCm39) missense probably benign 0.01
IGL02670:Mios APN 6 8,235,378 (GRCm39) splice site probably benign
IGL03083:Mios APN 6 8,215,156 (GRCm39) missense probably damaging 1.00
R0462:Mios UTSW 6 8,215,743 (GRCm39) missense probably benign 0.11
R0591:Mios UTSW 6 8,215,470 (GRCm39) missense possibly damaging 0.52
R1351:Mios UTSW 6 8,228,120 (GRCm39) missense possibly damaging 0.70
R1476:Mios UTSW 6 8,234,237 (GRCm39) missense probably benign 0.01
R1802:Mios UTSW 6 8,216,385 (GRCm39) nonsense probably null
R1959:Mios UTSW 6 8,215,437 (GRCm39) missense probably benign 0.17
R1964:Mios UTSW 6 8,215,798 (GRCm39) missense probably damaging 0.99
R2272:Mios UTSW 6 8,226,865 (GRCm39) missense possibly damaging 0.71
R3852:Mios UTSW 6 8,216,453 (GRCm39) missense probably benign 0.09
R3876:Mios UTSW 6 8,233,189 (GRCm39) missense probably damaging 0.98
R3948:Mios UTSW 6 8,215,496 (GRCm39) missense probably benign
R4698:Mios UTSW 6 8,228,113 (GRCm39) missense possibly damaging 0.60
R4785:Mios UTSW 6 8,222,464 (GRCm39) missense probably benign
R4789:Mios UTSW 6 8,235,429 (GRCm39) missense probably benign 0.06
R4866:Mios UTSW 6 8,214,857 (GRCm39) missense probably damaging 1.00
R4878:Mios UTSW 6 8,215,094 (GRCm39) missense probably benign 0.00
R4991:Mios UTSW 6 8,215,847 (GRCm39) missense probably benign 0.00
R5479:Mios UTSW 6 8,215,314 (GRCm39) missense probably benign 0.00
R5714:Mios UTSW 6 8,215,434 (GRCm39) missense probably damaging 0.99
R6030:Mios UTSW 6 8,215,704 (GRCm39) missense probably benign 0.11
R6030:Mios UTSW 6 8,215,704 (GRCm39) missense probably benign 0.11
R6111:Mios UTSW 6 8,214,836 (GRCm39) missense probably benign 0.01
R6455:Mios UTSW 6 8,231,239 (GRCm39) missense probably benign 0.03
R7381:Mios UTSW 6 8,216,064 (GRCm39) missense probably damaging 0.98
R8350:Mios UTSW 6 8,227,998 (GRCm39) missense probably benign 0.00
R8708:Mios UTSW 6 8,234,255 (GRCm39) missense probably benign 0.17
R8913:Mios UTSW 6 8,215,924 (GRCm39) missense probably benign
R9062:Mios UTSW 6 8,233,221 (GRCm39) missense probably benign 0.00
R9359:Mios UTSW 6 8,214,894 (GRCm39) missense probably benign 0.17
R9521:Mios UTSW 6 8,233,171 (GRCm39) missense probably benign 0.45
Predicted Primers PCR Primer
(F):5'- ACTTTTAGTGAATGGACCTGACTG -3'
(R):5'- TATTGCATTGGCGAGCATGC -3'

Sequencing Primer
(F):5'- GGACCTGACTGGACTTTTTAAGCC -3'
(R):5'- GCGAGCATGCTTTGGAAC -3'
Posted On 2014-12-29