Incidental Mutation 'R4027:Zmym5'
ID 313057
Institutional Source Beutler Lab
Gene Symbol Zmym5
Ensembl Gene ENSMUSG00000040123
Gene Name zinc finger, MYM-type 5
Synonyms 9830124H08Rik
MMRRC Submission 040850-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R4027 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 57028042-57049173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57035268 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 267 (T267S)
Ref Sequence ENSEMBL: ENSMUSP00000153263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039812] [ENSMUST00000111285] [ENSMUST00000173954] [ENSMUST00000225699]
AlphaFold Q3U2E2
Predicted Effect probably benign
Transcript: ENSMUST00000039812
AA Change: T267S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000043625
Gene: ENSMUSG00000040123
AA Change: T267S

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 benign
Transcript: ENSMUST00000111285
AA Change: T267S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106916
Gene: ENSMUSG00000040123
AA Change: T267S

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 benign
Transcript: ENSMUST00000173954
AA Change: T267S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134057
Gene: ENSMUSG00000040123
AA Change: T267S

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 benign
Transcript: ENSMUST00000225699
AA Change: T267S

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (60/62)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,270,408 (GRCm39) F98L probably damaging Het
Adam26b T C 8: 43,973,409 (GRCm39) N531S probably benign Het
Ahdc1 T C 4: 132,791,476 (GRCm39) S906P possibly damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Ano10 A G 9: 122,081,994 (GRCm39) probably benign Het
Atp4a T C 7: 30,424,377 (GRCm39) probably null Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Carmil1 T A 13: 24,251,206 (GRCm39) probably benign Het
Ccl2 A G 11: 81,927,885 (GRCm39) R110G probably benign Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cog6 A C 3: 52,909,950 (GRCm39) D267E possibly damaging Het
Cyp4f37 G T 17: 32,850,646 (GRCm39) E366D probably benign Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dpep1 T C 8: 123,920,892 (GRCm39) V24A probably benign Het
Eefsec T C 6: 88,353,232 (GRCm39) I48V probably benign Het
Elmo2 G A 2: 165,136,169 (GRCm39) Q195* probably null Het
Ephb3 A G 16: 21,040,447 (GRCm39) D561G probably damaging Het
Erich2 C A 2: 70,343,134 (GRCm39) probably benign Het
Gatm A G 2: 122,427,927 (GRCm39) V362A probably damaging Het
Gdf10 A G 14: 33,654,572 (GRCm39) M360V probably damaging Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Hectd1 T A 12: 51,849,219 (GRCm39) probably null Het
Insrr A G 3: 87,716,906 (GRCm39) E682G probably benign Het
Itgax A G 7: 127,740,438 (GRCm39) I742V possibly damaging Het
Kcnh1 T C 1: 191,959,007 (GRCm39) V187A probably benign Het
Kdm6b G T 11: 69,297,094 (GRCm39) S419R possibly damaging Het
Kmt2a A T 9: 44,747,990 (GRCm39) probably benign Het
Krt10 A G 11: 99,277,019 (GRCm39) probably benign Het
Lct G A 1: 128,212,918 (GRCm39) R1912C probably benign Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Mast3 A G 8: 71,240,552 (GRCm39) L279P probably damaging Het
Mfsd4b3-ps T C 10: 39,823,343 (GRCm39) T306A probably benign Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mknk1 T A 4: 115,721,758 (GRCm39) F101I probably damaging Het
Mlc1 T C 15: 88,850,697 (GRCm39) I154V probably benign Het
Myo5b T C 18: 74,892,311 (GRCm39) I1685T possibly damaging Het
Nacc2 T A 2: 25,950,348 (GRCm39) M463L probably benign Het
Nek11 A C 9: 105,121,589 (GRCm39) Y443* probably null Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nova1 A G 12: 46,863,801 (GRCm39) probably benign Het
Or52h9 A T 7: 104,202,530 (GRCm39) I135F possibly damaging Het
Parp10 A G 15: 76,125,354 (GRCm39) probably null Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Plce1 T C 19: 38,512,709 (GRCm39) S3P probably damaging Het
Pnldc1 T C 17: 13,109,666 (GRCm39) D400G probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Prmt6 A G 3: 110,157,257 (GRCm39) I344T probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Ranbp17 C T 11: 33,450,718 (GRCm39) R73Q possibly damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Tecpr1 C A 5: 144,143,077 (GRCm39) A735S probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Vldlr A G 19: 27,215,713 (GRCm39) T237A probably benign Het
Vmn1r74 C A 7: 11,580,898 (GRCm39) T66K probably damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zmym1 C T 4: 126,943,672 (GRCm39) V239I probably benign 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
R1939:Zmym5 UTSW 14 57,036,577 (GRCm39) missense probably damaging 0.98
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
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'- ATGGCAGAGCTTACACTAGC -3'
(R):5'- TGTTGTGTTTGACAAGACTCAG -3'

Sequencing Primer
(F):5'- CAGTATGAAGAGCAGACCT -3'
(R):5'- AAGTACACTCTGTAGGCCTGATGC -3'
Posted On 2015-04-30