Incidental Mutation 'R1939:Zmym5'
ID 213850
Institutional Source Beutler Lab
Gene Symbol Zmym5
Ensembl Gene ENSMUSG00000040123
Gene Name zinc finger, MYM-type 5
Synonyms 9830124H08Rik
MMRRC Submission 039957-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R1939 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 57028042-57049173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57036577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 190 (V190A)
Ref Sequence ENSEMBL: ENSMUSP00000153263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039812] [ENSMUST00000111285] [ENSMUST00000173954] [ENSMUST00000225699]
AlphaFold Q3U2E2
Predicted Effect probably damaging
Transcript: ENSMUST00000039812
AA Change: V190A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000043625
Gene: ENSMUSG00000040123
AA Change: V190A

DomainStartEndE-ValueType
low complexity region 91 103 N/A INTRINSIC
TRASH 213 249 2.69e-5 SMART
TRASH 306 341 1e3 SMART
TRASH 348 385 3.32e-5 SMART
low complexity region 426 436 N/A INTRINSIC
ZnF_TTF 528 604 4.14e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111285
AA Change: V190A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106916
Gene: ENSMUSG00000040123
AA Change: V190A

DomainStartEndE-ValueType
low complexity region 91 103 N/A INTRINSIC
TRASH 213 249 2.69e-5 SMART
TRASH 306 341 1e3 SMART
TRASH 348 385 3.32e-5 SMART
low complexity region 426 436 N/A INTRINSIC
ZnF_TTF 528 604 4.14e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173954
AA Change: V190A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134057
Gene: ENSMUSG00000040123
AA Change: V190A

DomainStartEndE-ValueType
low complexity region 91 103 N/A INTRINSIC
TRASH 213 249 2.69e-5 SMART
TRASH 306 341 1e3 SMART
TRASH 348 385 3.32e-5 SMART
low complexity region 426 436 N/A INTRINSIC
ZnF_TTF 528 604 4.14e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224498
Predicted Effect probably damaging
Transcript: ENSMUST00000225699
AA Change: V190A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T A 11: 83,331,130 (GRCm39) W11R probably damaging Het
2700049A03Rik A G 12: 71,207,186 (GRCm39) probably null Het
4933409G03Rik T C 2: 68,419,328 (GRCm39) S26P possibly damaging Het
Ace2 A T X: 162,939,524 (GRCm39) M123L possibly damaging Het
Acot3 A G 12: 84,105,325 (GRCm39) N264S probably benign Het
Acvr1c A T 2: 58,173,517 (GRCm39) N248K probably damaging Het
Adam22 A T 5: 8,380,015 (GRCm39) F94L probably damaging Het
Adarb2 T C 13: 8,253,358 (GRCm39) probably null Het
Aldh1b1 A G 4: 45,802,755 (GRCm39) M98V possibly damaging Het
Arfgef2 T A 2: 166,715,548 (GRCm39) V1331D probably damaging Het
Atf2 G A 2: 73,676,563 (GRCm39) P184S probably damaging Het
Atp8b3 A T 10: 80,361,220 (GRCm39) C785* probably null Het
Birc6 T C 17: 74,977,332 (GRCm39) S4362P probably damaging Het
Brd10 A G 19: 29,731,077 (GRCm39) F712S possibly damaging Het
Chn1 A G 2: 73,455,245 (GRCm39) C39R probably damaging Het
Cngb1 C A 8: 96,026,320 (GRCm39) G154W probably damaging Het
Cntnap5b A G 1: 99,895,073 (GRCm39) H115R probably benign Het
Col23a1 A G 11: 51,442,816 (GRCm39) D159G unknown Het
Coro7 T C 16: 4,446,596 (GRCm39) E843G probably benign Het
Dnase2a G T 8: 85,637,524 (GRCm39) A309S possibly damaging Het
Dync2h1 A G 9: 7,139,159 (GRCm39) probably null Het
Engase T A 11: 118,370,012 (GRCm39) N97K probably damaging Het
Fam83b A T 9: 76,400,362 (GRCm39) M247K probably damaging Het
Fer T C 17: 64,280,123 (GRCm39) S65P probably damaging Het
Fgf10 A G 13: 118,925,688 (GRCm39) R156G probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm904 T C 13: 50,798,772 (GRCm39) probably null Het
Gpat2 T A 2: 127,277,879 (GRCm39) *802K probably null Het
Hcfc2 G T 10: 82,538,284 (GRCm39) R107L probably damaging Het
Itga8 T G 2: 12,305,657 (GRCm39) D111A probably damaging Het
Jag1 C G 2: 136,925,393 (GRCm39) V1070L possibly damaging Het
Lama5 T C 2: 179,832,714 (GRCm39) N1646S probably benign Het
Lgals8 T G 13: 12,474,069 (GRCm39) I10L probably benign Het
Lrp1b A G 2: 40,587,601 (GRCm39) S116P unknown Het
Mcpt1 A T 14: 56,256,546 (GRCm39) K94I possibly damaging Het
Mpnd T C 17: 56,322,920 (GRCm39) F384S probably damaging Het
Mrgprb5 A T 7: 47,818,686 (GRCm39) N16K probably benign Het
Myo15b A G 11: 115,778,529 (GRCm39) T1139A probably benign Het
Nat8f5 A C 6: 85,794,801 (GRCm39) I53R possibly damaging Het
Nav1 A T 1: 135,393,636 (GRCm39) L1034Q probably damaging Het
Nudt6 T C 3: 37,459,379 (GRCm39) Y54C probably damaging Het
Or10j3b G T 1: 173,043,499 (GRCm39) A94S probably benign Het
Or5p58 A G 7: 107,694,348 (GRCm39) V143A probably benign Het
Or6c217 A C 10: 129,737,970 (GRCm39) M203R probably damaging Het
Or8b35 A G 9: 37,904,385 (GRCm39) N199S probably benign Het
Or8c15 T A 9: 38,120,725 (GRCm39) Y72* probably null Het
Osbpl8 A T 10: 111,125,672 (GRCm39) H784L probably benign Het
Osr1 T G 12: 9,629,687 (GRCm39) S187A probably damaging Het
Pcdhgc5 A G 18: 37,955,003 (GRCm39) Y759C probably damaging Het
Pkd1l2 G T 8: 117,772,921 (GRCm39) Y1035* probably null Het
Pla2g15 A G 8: 106,889,927 (GRCm39) T400A probably damaging Het
Pms1 A C 1: 53,236,135 (GRCm39) L715R probably damaging Het
Prkd1 T C 12: 50,441,777 (GRCm39) N254S probably benign Het
Prkdc T C 16: 15,653,777 (GRCm39) V3868A possibly damaging Het
Ptprt T C 2: 161,769,560 (GRCm39) N435S probably benign Het
Purb T C 11: 6,424,943 (GRCm39) E315G unknown Het
Rap1b A T 10: 117,654,491 (GRCm39) N116K probably damaging Het
Rmc1 T C 18: 12,313,562 (GRCm39) L15P probably damaging Het
Rp1l1 A G 14: 64,267,042 (GRCm39) N876S probably benign Het
Rps6ka4 T A 19: 6,816,834 (GRCm39) I114F probably damaging Het
Semp2l1 T C 1: 32,584,627 (GRCm39) I428V probably damaging Het
Sh3bp2 A G 5: 34,708,963 (GRCm39) N19D probably damaging Het
Slc16a4 A G 3: 107,208,317 (GRCm39) M276V probably benign Het
Slc17a1 A G 13: 24,059,864 (GRCm39) T172A probably benign Het
Slc4a7 C T 14: 14,748,581 (GRCm38) A320V probably damaging Het
Slco1a6 T A 6: 142,078,956 (GRCm39) Y113F probably damaging Het
Srsf6 C T 2: 162,776,403 (GRCm39) probably benign Het
St3gal6 A T 16: 58,293,924 (GRCm39) probably null Het
Tdp2 A G 13: 25,025,260 (GRCm39) D343G probably benign Het
Tecpr2 T A 12: 110,899,603 (GRCm39) L657Q probably damaging Het
Tet2 T C 3: 133,194,399 (GRCm39) T12A possibly damaging Het
Trappc6a T A 7: 19,248,426 (GRCm39) F28I probably damaging Het
Trim32 G A 4: 65,532,303 (GRCm39) V287I probably benign Het
Trpd52l3 T C 19: 29,981,289 (GRCm39) S15P probably damaging Het
Tsnaxip1 A G 8: 106,566,670 (GRCm39) I169V probably benign Het
Ttc34 G A 4: 154,950,139 (GRCm39) A1031T possibly damaging Het
Ttll11 T A 2: 35,830,765 (GRCm39) Q18L probably null Het
Ttll8 A T 15: 88,799,689 (GRCm39) I584N probably damaging Het
Ubiad1 A G 4: 148,528,468 (GRCm39) L147P probably damaging Het
Ucp3 T C 7: 100,129,871 (GRCm39) V171A probably benign Het
Vmn1r174 T A 7: 23,453,532 (GRCm39) I66N probably damaging Het
Vmn2r13 T C 5: 109,339,852 (GRCm39) D41G possibly damaging Het
Vmn2r4 T C 3: 64,305,976 (GRCm39) D393G probably benign Het
Wipf2 C T 11: 98,783,236 (GRCm39) R221* probably null Het
Zfp976 C A 7: 42,263,105 (GRCm39) C244F unknown Het
Other mutations in Zmym5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Zmym5 APN 14 57,041,617 (GRCm39) missense probably damaging 0.99
IGL02028:Zmym5 APN 14 57,041,617 (GRCm39) missense possibly damaging 0.93
IGL02535:Zmym5 APN 14 57,035,123 (GRCm39) critical splice donor site probably null
cerveza UTSW 14 57,031,918 (GRCm39) nonsense probably null
Yeast UTSW 14 57,049,618 (GRCm39) unclassified probably benign
R0391:Zmym5 UTSW 14 57,041,908 (GRCm39) missense possibly damaging 0.74
R1692:Zmym5 UTSW 14 57,041,650 (GRCm39) missense probably damaging 1.00
R1997:Zmym5 UTSW 14 57,035,210 (GRCm39) missense possibly damaging 0.85
R3790:Zmym5 UTSW 14 57,031,230 (GRCm39) missense probably damaging 1.00
R4027:Zmym5 UTSW 14 57,035,268 (GRCm39) missense probably benign 0.18
R4345:Zmym5 UTSW 14 57,034,083 (GRCm39) missense probably benign 0.00
R4622:Zmym5 UTSW 14 57,049,693 (GRCm39) unclassified probably benign
R4686:Zmym5 UTSW 14 57,049,618 (GRCm39) unclassified probably benign
R5092:Zmym5 UTSW 14 57,034,236 (GRCm39) missense probably benign 0.27
R5344:Zmym5 UTSW 14 57,031,519 (GRCm39) missense probably damaging 1.00
R6356:Zmym5 UTSW 14 57,031,622 (GRCm39) missense possibly damaging 0.71
R7074:Zmym5 UTSW 14 57,042,255 (GRCm39) missense probably benign
R7358:Zmym5 UTSW 14 57,031,597 (GRCm39) nonsense probably null
R7657:Zmym5 UTSW 14 57,041,653 (GRCm39) missense probably benign 0.01
R7811:Zmym5 UTSW 14 57,036,434 (GRCm39) missense probably damaging 1.00
R8013:Zmym5 UTSW 14 57,031,883 (GRCm39) missense possibly damaging 0.52
R8014:Zmym5 UTSW 14 57,031,883 (GRCm39) missense possibly damaging 0.52
R8174:Zmym5 UTSW 14 57,031,918 (GRCm39) nonsense probably null
R9260:Zmym5 UTSW 14 57,041,641 (GRCm39) missense probably damaging 1.00
Z1176:Zmym5 UTSW 14 57,035,277 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGAGCACTAAACCACATGAGAAATG -3'
(R):5'- GCCTTAACCACGTGCTATGAG -3'

Sequencing Primer
(F):5'- CTTTCGAGTACGCTTATGGGAGAAAG -3'
(R):5'- CACGTGCTATGAGTCTCTTAAACAC -3'
Posted On 2014-07-14