Incidental Mutation 'R4381:Mib2'
ID 325326
Institutional Source Beutler Lab
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
MMRRC Submission 041122-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4381 (G1)
Quality Score 200
Status Validated
Chromosome 4
Chromosomal Location 155739134-155753655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 155742069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 234 (A234G)
Ref Sequence ENSEMBL: ENSMUSP00000122269 (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 benign
Transcript: ENSMUST00000103176
AA Change: A373G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: A373G

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: A234G

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060
AA Change: A234G

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: ENSMUST00000151843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139788
Meta Mutation Damage Score 0.0721 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 95% (41/43)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 C T 3: 127,523,022 (GRCm39) V7M probably damaging Het
Dlgap2 A G 8: 14,896,502 (GRCm39) I993V probably benign Het
Dst T C 1: 34,202,316 (GRCm39) S215P probably damaging Het
Eml5 A G 12: 98,782,214 (GRCm39) I1359T possibly damaging Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Gpr158 T A 2: 21,832,403 (GRCm39) W1168R probably damaging Het
Ighv1-62-1 T A 12: 115,350,613 (GRCm39) H18L probably benign Het
Il18r1 A G 1: 40,510,950 (GRCm39) I12V probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Mtpap T C 18: 4,383,223 (GRCm39) F200S probably benign Het
Nacad T A 11: 6,550,204 (GRCm39) T996S probably benign Het
Nek9 T A 12: 85,376,632 (GRCm39) T250S probably damaging Het
Nif3l1 A C 1: 58,494,738 (GRCm39) probably benign Het
Nipbl A G 15: 8,388,690 (GRCm39) V310A probably benign Het
Or10al3 G T 17: 38,011,790 (GRCm39) E76D probably damaging Het
Or7g34 A G 9: 19,478,038 (GRCm39) L211P probably benign Het
Pbrm1 T C 14: 30,747,513 (GRCm39) V33A probably benign Het
Pcdha4 A G 18: 37,085,928 (GRCm39) E37G probably damaging Het
Pdgfc A G 3: 81,116,558 (GRCm39) K304R probably damaging Het
Peak1 G T 9: 56,165,711 (GRCm39) A739E probably benign Het
Pla2g4c A T 7: 13,079,990 (GRCm39) N433Y probably damaging Het
Polrmt A C 10: 79,577,642 (GRCm39) L319R possibly damaging Het
Prkaa1 A T 15: 5,206,289 (GRCm39) T373S probably benign Het
Qars1 G A 9: 108,387,382 (GRCm39) probably benign Het
Ranbp1 G A 16: 18,065,208 (GRCm39) L33F probably damaging Het
Rpgrip1 C T 14: 52,387,906 (GRCm39) P1094L possibly damaging Het
Taf1d T A 9: 15,223,277 (GRCm39) probably benign Het
Tstd2 T C 4: 46,119,933 (GRCm39) K340E probably benign Het
Vmn2r45 A T 7: 8,474,912 (GRCm39) C705* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zdhhc16 A G 19: 41,929,093 (GRCm39) Y232C possibly damaging Het
Zfp1 T A 8: 112,397,083 (GRCm39) L354Q probably damaging Het
Zyg11a G A 4: 108,058,517 (GRCm39) A341V possibly damaging Het
Other mutations in Mib2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Mib2 APN 4 155,742,187 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACATTTCCTAGTGCGGCCTC -3'
(R):5'- TGTTGTCAGCACGTTGACC -3'

Sequencing Primer
(F):5'- TAGTGCGGCCTCTACTACCAG -3'
(R):5'- ACCCCTGACCTGTTGTGAC -3'
Posted On 2015-07-06