Incidental Mutation 'IGL02681:Mynn'
ID303357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mynn
Ensembl Gene ENSMUSG00000037730
Gene Namemyoneurin
SynonymsSBBIZ1, 2810011C24Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.442) question?
Stock #IGL02681
Quality Score
Status
Chromosome3
Chromosomal Location30602065-30619873 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30616642 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 554 (D554E)
Ref Sequence ENSEMBL: ENSMUSP00000141951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047502] [ENSMUST00000192715] [ENSMUST00000195396] [ENSMUST00000195751]
Predicted Effect probably benign
Transcript: ENSMUST00000047502
AA Change: D526E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: D526E

DomainStartEndE-ValueType
BTB 24 119 4.44e-22 SMART
low complexity region 174 190 N/A INTRINSIC
ZnF_C2H2 302 324 1.47e-3 SMART
ZnF_C2H2 330 352 5.14e-3 SMART
ZnF_C2H2 358 380 1.36e-2 SMART
ZnF_C2H2 387 409 1.12e-3 SMART
ZnF_C2H2 415 437 3.63e-3 SMART
ZnF_C2H2 443 465 1.1e-2 SMART
ZnF_C2H2 471 493 2.99e-4 SMART
ZnF_C2H2 499 522 3.58e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192715
AA Change: D554E

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: D554E

DomainStartEndE-ValueType
BTB 24 119 4.44e-22 SMART
low complexity region 174 190 N/A INTRINSIC
ZnF_C2H2 302 324 1.47e-3 SMART
ZnF_C2H2 330 352 5.14e-3 SMART
ZnF_C2H2 358 380 1.36e-2 SMART
ZnF_C2H2 387 409 1.12e-3 SMART
ZnF_C2H2 415 437 3.63e-3 SMART
ZnF_C2H2 443 465 1.1e-2 SMART
ZnF_C2H2 471 493 2.99e-4 SMART
ZnF_C2H2 499 522 3.58e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193736
Predicted Effect probably benign
Transcript: ENSMUST00000195396
SMART Domains Protein: ENSMUSP00000141623
Gene: ENSMUSG00000037730

DomainStartEndE-ValueType
Pfam:BTB 14 55 6.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195751
SMART Domains Protein: ENSMUSP00000141450
Gene: ENSMUSG00000037730

DomainStartEndE-ValueType
Pfam:BTB 14 55 6.4e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar3 C T 3: 122,512,768 probably null Het
Cyp3a59 T C 5: 146,090,746 probably benign Het
Dnah2 G A 11: 69,452,933 T2844M probably benign Het
Ehbp1l1 T C 19: 5,720,825 I241M probably damaging Het
Fam129b A G 2: 32,911,390 Y122C probably benign Het
Fancl G A 11: 26,468,722 probably null Het
Filip1l A G 16: 57,571,779 Q910R probably benign Het
Fn1 A T 1: 71,619,482 V1139E probably damaging Het
Gm4787 A G 12: 81,378,769 V205A possibly damaging Het
Gpr158 T A 2: 21,815,630 L646Q probably damaging Het
Ifna1 A G 4: 88,850,286 D67G probably benign Het
Il11ra1 T A 4: 41,768,552 M412K possibly damaging Het
Klra10 T A 6: 130,279,419 M91L probably damaging Het
Krba1 T A 6: 48,404,118 D129E probably damaging Het
Mat1a T C 14: 41,122,496 probably benign Het
Med24 T A 11: 98,709,739 K627* probably null Het
Mpl A T 4: 118,448,871 probably benign Het
Olfr382 T C 11: 73,516,530 Y223C probably benign Het
Prkcd T C 14: 30,601,233 probably null Het
Prrc2c T C 1: 162,705,612 probably benign Het
Scp2d1 T C 2: 144,823,884 F48L probably benign Het
Slc12a2 A G 18: 57,879,399 H198R probably benign Het
Sulf2 A G 2: 166,116,985 V101A probably benign Het
Synj2 T A 17: 5,990,336 V144E probably damaging Het
Tas2r113 T G 6: 132,893,367 F119L probably damaging Het
Tspan17 A G 13: 54,789,629 E12G probably damaging Het
Other mutations in Mynn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Mynn APN 3 30613606 missense probably damaging 0.99
IGL01544:Mynn APN 3 30607705 nonsense probably null
IGL02084:Mynn APN 3 30611615 missense probably damaging 1.00
IGL02189:Mynn APN 3 30613544 splice site probably benign
IGL02261:Mynn APN 3 30607131 missense possibly damaging 0.67
IGL02541:Mynn APN 3 30611603 missense probably damaging 0.98
IGL03167:Mynn APN 3 30609042 missense probably damaging 1.00
PIT4494001:Mynn UTSW 3 30607722 nonsense probably null
R0049:Mynn UTSW 3 30607081 makesense probably null
R0321:Mynn UTSW 3 30607557 missense probably benign 0.01
R0420:Mynn UTSW 3 30607459 missense probably benign 0.42
R0574:Mynn UTSW 3 30616739 missense probably benign 0.01
R0576:Mynn UTSW 3 30607068 missense probably damaging 1.00
R1460:Mynn UTSW 3 30603704 missense probably damaging 0.99
R1882:Mynn UTSW 3 30616813 makesense probably null
R3115:Mynn UTSW 3 30607810 missense probably damaging 1.00
R3442:Mynn UTSW 3 30613563 missense probably damaging 0.99
R4930:Mynn UTSW 3 30607042 missense probably damaging 1.00
R5153:Mynn UTSW 3 30611589 missense probably benign 0.00
R5351:Mynn UTSW 3 30607542 missense probably benign 0.01
R7446:Mynn UTSW 3 30607052 missense probably benign 0.01
R7468:Mynn UTSW 3 30603676 missense probably damaging 1.00
R7543:Mynn UTSW 3 30607039 nonsense probably null
R8105:Mynn UTSW 3 30611479 missense possibly damaging 0.92
R8423:Mynn UTSW 3 30603784 missense probably benign 0.05
R8512:Mynn UTSW 3 30616649 missense probably damaging 0.99
Posted On2015-04-16