Incidental Mutation 'IGL02261:Mynn'
ID 286762
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mynn
Ensembl Gene ENSMUSG00000037730
Gene Name myoneurin
Synonyms 2810011C24Rik, SBBIZ1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.423) question?
Stock # IGL02261
Quality Score
Status
Chromosome 3
Chromosomal Location 30656214-30674022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30661280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 121 (I121F)
Ref Sequence ENSEMBL: ENSMUSP00000141951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047502] [ENSMUST00000192715] [ENSMUST00000195396] [ENSMUST00000195751]
AlphaFold Q99MD8
Predicted Effect possibly damaging
Transcript: ENSMUST00000047502
AA Change: I121F

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: I121F

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 possibly damaging
Transcript: ENSMUST00000192715
AA Change: I121F

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: I121F

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: ENSMUST00000194587
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,604,807 (GRCm39) V27M probably damaging Het
Ank1 A G 8: 23,578,015 (GRCm39) N222D probably damaging Het
Bcas3 A T 11: 85,422,756 (GRCm39) T542S probably damaging Het
Btbd1 A T 7: 81,455,507 (GRCm39) I288N probably damaging Het
Ctps1 C T 4: 120,399,776 (GRCm39) V500I possibly damaging Het
Cul5 A C 9: 53,546,337 (GRCm39) V345G probably damaging Het
Dchs1 A G 7: 105,421,776 (GRCm39) Y215H probably damaging Het
Dmxl1 T A 18: 49,973,566 (GRCm39) M67K possibly damaging Het
Egln2 C T 7: 26,859,291 (GRCm39) E353K possibly damaging Het
Fbxw5 G T 2: 25,393,746 (GRCm39) A325S probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gaa A G 11: 119,172,091 (GRCm39) *207W probably null Het
Herc2 A G 7: 55,856,492 (GRCm39) T3947A probably damaging Het
Ifit2 T A 19: 34,551,624 (GRCm39) I388N probably damaging Het
Ikzf4 T C 10: 128,472,591 (GRCm39) T209A possibly damaging Het
Il17re A T 6: 113,445,472 (GRCm39) probably benign Het
Insrr T A 3: 87,708,029 (GRCm39) L157Q probably damaging Het
Kcnq2 T G 2: 180,723,483 (GRCm39) Y631S probably damaging Het
Lrrfip1 A G 1: 91,039,890 (GRCm39) I198V probably benign Het
Mir7684 A T 15: 82,273,345 (GRCm39) probably benign Het
Mphosph9 C T 5: 124,398,150 (GRCm39) E1049K probably damaging Het
Mroh1 G A 15: 76,313,360 (GRCm39) R611Q probably benign Het
Ndrg2 G A 14: 52,148,566 (GRCm39) R32C probably damaging Het
Or2ab1 T C 11: 58,488,630 (GRCm39) I138T probably benign Het
Or4p7 A G 2: 88,221,725 (GRCm39) I45V probably benign Het
Ppp1r9b A G 11: 94,892,936 (GRCm39) E260G probably damaging Het
Psd4 A G 2: 24,291,756 (GRCm39) S652G probably damaging Het
Psg25 C T 7: 18,255,268 (GRCm39) R416H probably benign Het
Pygm T A 19: 6,438,301 (GRCm39) N171K probably damaging Het
Rbm46 A T 3: 82,771,723 (GRCm39) D297E possibly damaging Het
Selenov T A 7: 27,990,004 (GRCm39) T167S probably benign Het
Serpina10 T C 12: 103,583,208 (GRCm39) Y358C probably damaging Het
Slc27a3 T C 3: 90,295,002 (GRCm39) R352G probably benign Het
Snx33 T C 9: 56,833,862 (GRCm39) D69G probably benign Het
St8sia2 G T 7: 73,616,594 (GRCm39) P127H probably damaging Het
Thbd T C 2: 148,248,401 (GRCm39) K489R probably benign Het
Ttn A T 2: 76,767,049 (GRCm39) C3039S probably damaging Het
Vmn1r167 T C 7: 23,204,261 (GRCm39) M252V probably benign Het
Xdh A G 17: 74,220,960 (GRCm39) S590P possibly damaging Het
Zfp827 G A 8: 79,906,708 (GRCm39) V907I probably damaging Het
Other mutations in Mynn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01300:Mynn APN 3 30,667,755 (GRCm39) missense probably damaging 0.99
IGL01544:Mynn APN 3 30,661,854 (GRCm39) nonsense probably null
IGL02084:Mynn APN 3 30,665,764 (GRCm39) missense probably damaging 1.00
IGL02189:Mynn APN 3 30,667,693 (GRCm39) splice site probably benign
IGL02541:Mynn APN 3 30,665,752 (GRCm39) missense probably damaging 0.98
IGL02681:Mynn APN 3 30,670,791 (GRCm39) missense probably benign 0.36
IGL03167:Mynn APN 3 30,663,191 (GRCm39) missense probably damaging 1.00
PIT4494001:Mynn UTSW 3 30,661,871 (GRCm39) nonsense probably null
R0049:Mynn UTSW 3 30,661,230 (GRCm39) makesense probably null
R0321:Mynn UTSW 3 30,661,706 (GRCm39) missense probably benign 0.01
R0420:Mynn UTSW 3 30,661,608 (GRCm39) missense probably benign 0.42
R0574:Mynn UTSW 3 30,670,888 (GRCm39) missense probably benign 0.01
R0576:Mynn UTSW 3 30,661,217 (GRCm39) missense probably damaging 1.00
R1460:Mynn UTSW 3 30,657,853 (GRCm39) missense probably damaging 0.99
R1882:Mynn UTSW 3 30,670,962 (GRCm39) makesense probably null
R3115:Mynn UTSW 3 30,661,959 (GRCm39) missense probably damaging 1.00
R3442:Mynn UTSW 3 30,667,712 (GRCm39) missense probably damaging 0.99
R4930:Mynn UTSW 3 30,661,191 (GRCm39) missense probably damaging 1.00
R5153:Mynn UTSW 3 30,665,738 (GRCm39) missense probably benign 0.00
R5351:Mynn UTSW 3 30,661,691 (GRCm39) missense probably benign 0.01
R7446:Mynn UTSW 3 30,661,201 (GRCm39) missense probably benign 0.01
R7468:Mynn UTSW 3 30,657,825 (GRCm39) missense probably damaging 1.00
R7543:Mynn UTSW 3 30,661,188 (GRCm39) nonsense probably null
R8105:Mynn UTSW 3 30,665,628 (GRCm39) missense possibly damaging 0.92
R8423:Mynn UTSW 3 30,657,933 (GRCm39) missense probably benign 0.05
R8465:Mynn UTSW 3 30,670,790 (GRCm39) missense probably damaging 1.00
R8512:Mynn UTSW 3 30,670,798 (GRCm39) missense probably damaging 0.99
R8519:Mynn UTSW 3 30,661,290 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16