Incidental Mutation 'IGL02084:Mynn'
ID 283457
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 # IGL02084
Quality Score
Status
Chromosome 3
Chromosomal Location 30656214-30674022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30665764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 465 (H465Q)
Ref Sequence ENSEMBL: ENSMUSP00000141951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047502] [ENSMUST00000192715] [ENSMUST00000195396] [ENSMUST00000195751]
AlphaFold Q99MD8
Predicted Effect probably damaging
Transcript: ENSMUST00000047502
AA Change: H465Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: H465Q

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 damaging
Transcript: ENSMUST00000192715
AA Change: H465Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: H465Q

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,021,423 (GRCm39) F1096L probably benign Het
Abcd2 T A 15: 91,062,530 (GRCm39) probably null Het
Actr10 T C 12: 71,001,423 (GRCm39) I210T probably damaging Het
Apoa5 A T 9: 46,181,950 (GRCm39) D342V probably damaging Het
Bicra G A 7: 15,721,663 (GRCm39) T618I probably benign Het
Birc6 C A 17: 74,915,277 (GRCm39) Q1642K probably benign Het
Cenpn A G 8: 117,667,634 (GRCm39) Y331C probably damaging Het
Clcn7 T A 17: 25,376,899 (GRCm39) I624N probably benign Het
Eddm3b A T 14: 51,354,087 (GRCm39) H25L unknown Het
Fam90a1a A G 8: 22,449,313 (GRCm39) E19G probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fbxo41 A T 6: 85,457,747 (GRCm39) probably null Het
Frem3 A G 8: 81,339,072 (GRCm39) D455G possibly damaging Het
Gart T C 16: 91,418,488 (GRCm39) Q86R probably benign Het
Gm45234 T C 6: 124,724,658 (GRCm39) probably benign Het
Gm5431 C T 11: 48,779,912 (GRCm39) D337N probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Kcns3 C T 12: 11,142,195 (GRCm39) R168Q probably damaging Het
Klra17 T A 6: 129,808,556 (GRCm39) N226Y probably damaging Het
Macf1 T C 4: 123,326,396 (GRCm39) N2915D probably benign Het
Macf1 T C 4: 123,353,167 (GRCm39) D1504G probably damaging Het
Mgat4d C T 8: 84,095,610 (GRCm39) S295L possibly damaging Het
Mslnl T C 17: 25,965,125 (GRCm39) V497A probably benign Het
Mtor T C 4: 148,555,137 (GRCm39) S920P probably damaging Het
Myo16 A G 8: 10,411,088 (GRCm39) E182G probably damaging Het
Ncln T C 10: 81,324,430 (GRCm39) I417V probably benign Het
Nlrp4f A T 13: 65,341,985 (GRCm39) C553* probably null Het
Or5k14 G A 16: 58,693,399 (GRCm39) T38I probably damaging Het
Or8k37 T A 2: 86,469,980 (GRCm39) Q24L possibly damaging Het
Pkhd1 T C 1: 20,447,623 (GRCm39) I2257V probably damaging Het
Ppp4r4 T A 12: 103,566,657 (GRCm39) S35T possibly damaging Het
Qrfprl T C 6: 65,358,594 (GRCm39) V106A probably benign Het
Rnf213 T C 11: 119,336,499 (GRCm39) V3291A probably benign Het
Runx2 C T 17: 45,035,716 (GRCm39) A173T probably damaging Het
Ryr2 A T 13: 11,807,648 (GRCm39) Y833* probably null Het
Setbp1 G A 18: 78,900,625 (GRCm39) A1014V probably damaging Het
Slc25a38 A G 9: 119,949,512 (GRCm39) probably benign Het
Stk4 A G 2: 163,928,527 (GRCm39) T120A probably benign Het
Taf3 A T 2: 10,047,330 (GRCm39) V106D probably benign Het
Uchl5 A G 1: 143,677,912 (GRCm39) I139V possibly damaging Het
Ung A G 5: 114,268,637 (GRCm39) E25G probably benign Het
Wrn A G 8: 33,775,207 (GRCm39) V619A probably benign 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
IGL02189:Mynn APN 3 30,667,693 (GRCm39) splice site probably benign
IGL02261:Mynn APN 3 30,661,280 (GRCm39) missense possibly damaging 0.67
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