Incidental Mutation 'IGL01014:Mib2'
ID 53525
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01014
Quality Score
Status
Chromosome 4
Chromosomal Location 155739134-155753655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 155742187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 334 (V334M)
Ref Sequence ENSEMBL: ENSMUSP00000099465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030937] [ENSMUST00000103176] [ENSMUST00000141108]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030937
SMART Domains Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061

DomainStartEndE-ValueType
low complexity region 19 41 N/A INTRINSIC
ZnMc 85 256 8.39e-48 SMART
ShKT 255 291 4.06e-10 SMART
IG 307 390 4.53e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103176
AA Change: V334M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: V334M

DomainStartEndE-ValueType
Pfam:MIB_HERC2 12 78 3.4e-26 PFAM
ZnF_ZZ 85 130 6.44e-9 SMART
Pfam:MIB_HERC2 160 225 4.2e-26 PFAM
Blast:ANK 285 320 2e-13 BLAST
ANK 428 457 8.52e-4 SMART
ANK 461 490 6.71e-2 SMART
ANK 494 523 9.93e-5 SMART
ANK 527 559 1.1e2 SMART
ANK 563 593 9.21e0 SMART
ANK 597 627 3.57e-6 SMART
ANK 631 660 3.31e-1 SMART
ANK 664 709 1.73e3 SMART
Blast:ANK 733 762 9e-10 BLAST
low complexity region 763 772 N/A INTRINSIC
RING 798 832 2.55e-1 SMART
RING 877 909 1.81e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139134
Predicted Effect possibly damaging
Transcript: ENSMUST00000141108
AA Change: V195M

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060
AA Change: V195M

DomainStartEndE-ValueType
Pfam:MIB_HERC2 1 52 7.1e-17 PFAM
internal_repeat_1 82 150 7.77e-12 PROSPERO
internal_repeat_1 153 220 7.77e-12 PROSPERO
ANK 289 318 8.52e-4 SMART
ANK 322 351 6.71e-2 SMART
Pfam:Ank 356 375 2.9e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151843
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display exencephaly with a variable penetrance that depends on the genetic background. Mice homozygous for a reporter/null allele are viable, fertile and show normal growth, body weight and brain morphology. [provided by MGI curators]
Allele List at MGI

All alleles(16) : Targeted(5) Gene trapped(11)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,455,576 (GRCm39) M401I probably benign Het
Adgra1 C T 7: 139,455,577 (GRCm39) H402Y probably damaging Het
Akap13 T C 7: 75,400,381 (GRCm39) probably benign Het
Akap9 A G 5: 4,018,683 (GRCm39) E1088G probably benign Het
Aox1 T C 1: 58,361,960 (GRCm39) F722S possibly damaging Het
Arhgef39 G A 4: 43,499,502 (GRCm39) R36C probably damaging Het
Art2a C A 7: 101,204,115 (GRCm39) C141F probably damaging Het
Brwd1 A G 16: 95,817,373 (GRCm39) F1380L probably benign Het
Cadps2 A T 6: 23,496,873 (GRCm39) N102K possibly damaging Het
Ccdc30 C A 4: 119,250,776 (GRCm39) R22L possibly damaging Het
Ccdc74a A T 16: 17,467,661 (GRCm39) T200S possibly damaging Het
Cd200 G A 16: 45,215,063 (GRCm39) T196I probably benign Het
Cd244a A G 1: 171,401,856 (GRCm39) Y194C probably damaging Het
Cdh23 T C 10: 60,143,301 (GRCm39) T3009A probably damaging Het
Clec12b T A 6: 129,362,393 (GRCm39) N21Y probably damaging Het
Cntln A G 4: 84,968,145 (GRCm39) E788G probably benign Het
Col11a1 C T 3: 113,917,458 (GRCm39) probably benign Het
Cttnbp2 T A 6: 18,423,894 (GRCm39) N810I probably damaging Het
Dhx15 A T 5: 52,309,266 (GRCm39) V719D probably damaging Het
Dnah6 A G 6: 73,051,764 (GRCm39) probably benign Het
Dnajc13 A G 9: 104,080,417 (GRCm39) I888T probably damaging Het
Fasn T C 11: 120,708,055 (GRCm39) K666E probably damaging Het
Gnas C T 2: 174,139,767 (GRCm39) probably benign Het
Lmntd2 T C 7: 140,793,952 (GRCm39) Q7R probably damaging Het
Lmo7 G A 14: 102,157,993 (GRCm39) probably benign Het
Lrrc55 A G 2: 85,026,559 (GRCm39) I155T possibly damaging Het
Meis3 C T 7: 15,912,872 (GRCm39) probably benign Het
Myo3a A G 2: 22,337,284 (GRCm39) I386V probably benign Het
Neb C A 2: 52,177,170 (GRCm39) M1390I probably benign Het
Nmd3 G A 3: 69,633,719 (GRCm39) V69I probably benign Het
Nsmce3 G T 7: 64,522,382 (GRCm39) D95E possibly damaging Het
Or4c12 T C 2: 89,773,604 (GRCm39) Y285C probably damaging Het
Or4f58 A G 2: 111,851,477 (GRCm39) S241P probably damaging Het
Or5w16 T C 2: 87,577,469 (GRCm39) F310L probably benign Het
Pde4d T C 13: 110,086,036 (GRCm39) V538A probably damaging Het
Pgap6 T A 17: 26,335,983 (GRCm39) probably benign Het
Plxnb1 A T 9: 108,935,102 (GRCm39) H982L probably benign Het
Pold2 G T 11: 5,822,293 (GRCm39) Q459K probably benign Het
Ptpn14 G A 1: 189,554,830 (GRCm39) R130Q probably damaging Het
Rnf10 A T 5: 115,395,042 (GRCm39) L182Q probably damaging Het
Syne2 G A 12: 75,952,051 (GRCm39) D440N probably damaging Het
Tlcd1 G A 11: 78,070,283 (GRCm39) probably null Het
Tpte A T 8: 22,810,898 (GRCm39) Y185F probably benign Het
Other mutations in Mib2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01404:Mib2 APN 4 155,739,393 (GRCm39) missense probably damaging 1.00
IGL01819:Mib2 APN 4 155,739,715 (GRCm39) splice site probably null
IGL02147:Mib2 APN 4 155,742,144 (GRCm39) missense probably benign
IGL02260:Mib2 APN 4 155,745,628 (GRCm39) missense probably damaging 1.00
IGL02472:Mib2 APN 4 155,741,203 (GRCm39) missense probably damaging 1.00
IGL02632:Mib2 APN 4 155,740,036 (GRCm39) missense probably damaging 0.98
IGL03051:Mib2 APN 4 155,741,747 (GRCm39) missense probably damaging 1.00
IGL03077:Mib2 APN 4 155,743,900 (GRCm39) missense probably benign 0.01
R0042:Mib2 UTSW 4 155,743,897 (GRCm39) nonsense probably null
R0042:Mib2 UTSW 4 155,743,897 (GRCm39) nonsense probably null
R0115:Mib2 UTSW 4 155,740,519 (GRCm39) unclassified probably benign
R0193:Mib2 UTSW 4 155,740,130 (GRCm39) missense probably benign
R0279:Mib2 UTSW 4 155,745,673 (GRCm39) missense possibly damaging 0.89
R0373:Mib2 UTSW 4 155,740,745 (GRCm39) missense probably damaging 1.00
R0481:Mib2 UTSW 4 155,740,519 (GRCm39) unclassified probably benign
R0563:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0564:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0625:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0714:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0740:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0942:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0987:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R1023:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R1033:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R1037:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R1460:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R1481:Mib2 UTSW 4 155,741,456 (GRCm39) missense probably benign 0.01
R1712:Mib2 UTSW 4 155,739,256 (GRCm39) missense probably damaging 1.00
R2015:Mib2 UTSW 4 155,742,337 (GRCm39) missense probably damaging 1.00
R2072:Mib2 UTSW 4 155,744,158 (GRCm39) missense probably damaging 0.99
R2131:Mib2 UTSW 4 155,739,695 (GRCm39) splice site probably null
R2187:Mib2 UTSW 4 155,739,390 (GRCm39) missense possibly damaging 0.95
R3751:Mib2 UTSW 4 155,739,741 (GRCm39) missense probably damaging 1.00
R3752:Mib2 UTSW 4 155,739,741 (GRCm39) missense probably damaging 1.00
R3753:Mib2 UTSW 4 155,739,741 (GRCm39) missense probably damaging 1.00
R4381:Mib2 UTSW 4 155,742,069 (GRCm39) missense possibly damaging 0.55
R4584:Mib2 UTSW 4 155,741,744 (GRCm39) missense probably damaging 1.00
R4669:Mib2 UTSW 4 155,741,872 (GRCm39) missense possibly damaging 0.49
R4754:Mib2 UTSW 4 155,739,822 (GRCm39) missense possibly damaging 0.90
R4782:Mib2 UTSW 4 155,744,229 (GRCm39) missense probably benign 0.00
R4799:Mib2 UTSW 4 155,744,229 (GRCm39) missense probably benign 0.00
R5036:Mib2 UTSW 4 155,740,745 (GRCm39) missense probably damaging 1.00
R5073:Mib2 UTSW 4 155,741,233 (GRCm39) missense probably damaging 1.00
R5915:Mib2 UTSW 4 155,740,508 (GRCm39) unclassified probably benign
R6695:Mib2 UTSW 4 155,745,629 (GRCm39) missense probably damaging 1.00
R7039:Mib2 UTSW 4 155,744,158 (GRCm39) missense probably damaging 0.99
R7234:Mib2 UTSW 4 155,742,350 (GRCm39) missense probably damaging 1.00
R7582:Mib2 UTSW 4 155,739,267 (GRCm39) missense probably benign
R8133:Mib2 UTSW 4 155,741,458 (GRCm39) missense probably benign 0.00
R8704:Mib2 UTSW 4 155,743,620 (GRCm39) missense possibly damaging 0.93
R8904:Mib2 UTSW 4 155,744,173 (GRCm39) missense probably damaging 0.99
R8987:Mib2 UTSW 4 155,745,351 (GRCm39) missense probably benign 0.01
R8988:Mib2 UTSW 4 155,740,729 (GRCm39) missense possibly damaging 0.47
R9336:Mib2 UTSW 4 155,743,394 (GRCm39) missense probably benign
R9537:Mib2 UTSW 4 155,741,952 (GRCm39) missense probably damaging 1.00
R9640:Mib2 UTSW 4 155,745,325 (GRCm39) missense possibly damaging 0.77
X0012:Mib2 UTSW 4 155,739,852 (GRCm39) splice site probably null
Z1176:Mib2 UTSW 4 155,745,598 (GRCm39) missense probably benign 0.06
Z1177:Mib2 UTSW 4 155,739,978 (GRCm39) critical splice donor site probably null
Posted On 2013-06-28