Incidental Mutation 'R0576:Mynn'
ID 56218
Institutional Source Beutler Lab
Gene Symbol Mynn
Ensembl Gene ENSMUSG00000037730
Gene Name myoneurin
Synonyms 2810011C24Rik, SBBIZ1
MMRRC Submission 038766-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.423) question?
Stock # R0576 (G1)
Quality Score 154
Status Validated
Chromosome 3
Chromosomal Location 30656214-30674022 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30661217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 100 (D100Y)
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: D100Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
AA Change: D100Y

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: D100Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
AA Change: D100Y

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 silent
Transcript: ENSMUST00000195396
SMART Domains Protein: ENSMUSP00000141623
Gene: ENSMUSG00000037730

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

DomainStartEndE-ValueType
Pfam:BTB 14 55 6.4e-9 PFAM
Meta Mutation Damage Score 0.3490 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.6%
  • 20x: 94.9%
Validation Efficiency 92% (47/51)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc77 T A 6: 120,308,809 (GRCm39) L335F probably benign Het
Ccr3 T A 9: 123,829,046 (GRCm39) F127Y probably damaging Het
Cfap43 T C 19: 47,785,579 (GRCm39) N437S probably benign Het
Cfh A G 1: 140,064,553 (GRCm39) V365A probably damaging Het
Copg1 T A 6: 87,874,945 (GRCm39) V380D probably damaging Het
Cxxc1 T C 18: 74,353,256 (GRCm39) I497T possibly damaging Het
Disp3 G A 4: 148,326,047 (GRCm39) T1237I possibly damaging Het
Dnaaf9 A T 2: 130,555,390 (GRCm39) F839L probably benign Het
Dnah7a A T 1: 53,675,246 (GRCm39) F360L probably benign Het
Dnhd1 C T 7: 105,363,252 (GRCm39) A3938V probably damaging Het
Eif4g1 A G 16: 20,502,818 (GRCm39) D1000G probably damaging Het
Emsy A T 7: 98,242,983 (GRCm39) V1052D probably damaging Het
Ep400 A G 5: 110,858,959 (GRCm39) probably benign Het
Fa2h T C 8: 112,082,779 (GRCm39) H146R probably damaging Het
Gad1 G A 2: 70,424,996 (GRCm39) C430Y probably benign Het
Gtse1 T C 15: 85,753,252 (GRCm39) S456P probably damaging Het
Gucy2g T C 19: 55,187,202 (GRCm39) T1073A probably damaging Het
Hectd2 T G 19: 36,562,897 (GRCm39) N3K probably benign Het
Hmcn1 A T 1: 150,525,768 (GRCm39) C3318* probably null Het
Lipo2 C T 19: 33,726,824 (GRCm39) S71N probably benign Het
Myo16 G A 8: 10,612,318 (GRCm39) probably null Het
Npr2 G T 4: 43,640,947 (GRCm39) K384N probably benign Het
Nrde2 A G 12: 100,098,492 (GRCm39) V725A possibly damaging Het
Or11h23 T A 14: 50,948,661 (GRCm39) S291R probably damaging Het
Or2l13 A G 16: 19,305,938 (GRCm39) M117V probably damaging Het
Otud7a C T 7: 63,335,266 (GRCm39) P101S possibly damaging Het
Pcdhb7 T A 18: 37,475,410 (GRCm39) L182Q probably benign Het
Pdss1 A G 2: 22,805,425 (GRCm39) probably null Het
Ppargc1b T A 18: 61,444,512 (GRCm39) H233L probably damaging Het
Ppm1b A G 17: 85,320,987 (GRCm39) probably null Het
Prdm14 A T 1: 13,195,949 (GRCm39) S37R possibly damaging Het
Prss45 A G 9: 110,667,497 (GRCm39) T39A probably benign Het
Qars1 T C 9: 108,392,161 (GRCm39) probably benign Het
Rxfp2 T G 5: 149,961,712 (GRCm39) H77Q probably benign Het
Scd4 A G 19: 44,329,685 (GRCm39) M219V probably benign Het
Sec24b G T 3: 129,834,985 (GRCm39) P71Q probably benign Het
Snd1 T G 6: 28,886,576 (GRCm39) V861G probably benign Het
Sspo A G 6: 48,441,876 (GRCm39) probably null Het
Tas2r129 A G 6: 132,928,497 (GRCm39) T145A probably benign Het
Tbc1d31 T A 15: 57,833,120 (GRCm39) I953N possibly damaging Het
Tlr4 A G 4: 66,757,732 (GRCm39) N175S probably benign Het
Tspyl4 A G 10: 34,174,518 (GRCm39) N337D probably damaging Het
Ttn A T 2: 76,642,545 (GRCm39) L13330H probably damaging Het
Usp33 T A 3: 152,089,756 (GRCm39) Y765* probably null Het
Vmn2r59 T A 7: 41,696,529 (GRCm39) Y71F probably benign Het
Zbed6 A G 1: 133,585,576 (GRCm39) F587S probably benign Het
Zfhx4 T C 3: 5,467,161 (GRCm39) S2465P 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
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
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
Predicted Primers PCR Primer
(F):5'- GCCTGCCATCTTCAGGAGAGTG -3'
(R):5'- GAGACGATTTCTTTGTCAATGCCCG -3'

Sequencing Primer
(F):5'- GGTCACAGTGCCTTCTCAG -3'
(R):5'- TTGCCTGAACTGAGTCCG -3'
Posted On 2013-07-11