Incidental Mutation 'R8704:Mib2'
ID 669186
Institutional Source Beutler Lab
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
MMRRC Submission 068558-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8704 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 155739134-155753655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155743620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 275 (M275T)
Ref Sequence ENSEMBL: ENSMUSP00000099465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103176] [ENSMUST00000141108]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000103176
AA Change: M275T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: M275T

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 probably benign
Transcript: ENSMUST00000141108
AA Change: M100T

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060
AA Change: M100T

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
Meta Mutation Damage Score 0.1001 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.5%
Validation Efficiency 98% (39/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,773,489 (GRCm39) Q628R possibly damaging Het
Agbl1 G T 7: 76,239,302 (GRCm39) probably benign Het
Brf2 A G 8: 27,618,499 (GRCm39) V35A possibly damaging Het
Chtf8 A C 8: 107,612,672 (GRCm39) M89R probably benign Het
Copa A G 1: 171,931,693 (GRCm39) I315V probably benign Het
Csmd2 G A 4: 128,091,147 (GRCm39) E229K Het
Etf1 T C 18: 35,039,139 (GRCm39) E376G probably damaging Het
Fat2 T A 11: 55,172,137 (GRCm39) I2859F probably damaging Het
Foxp1 C G 6: 98,993,507 (GRCm39) Q132H unknown Het
Gal3st3 T C 19: 5,352,663 (GRCm39) V30A probably benign Het
Gars1 C T 6: 55,040,215 (GRCm39) R381C probably damaging Het
Gjd3 C T 11: 98,873,445 (GRCm39) R133H probably damaging Het
Haspin T C 11: 73,028,828 (GRCm39) N87S probably benign Het
Hcrt A T 11: 100,652,752 (GRCm39) probably benign Het
Heatr6 T A 11: 83,668,104 (GRCm39) M866K probably benign Het
Igf1r T C 7: 67,819,802 (GRCm39) probably benign Het
Lgr5 A G 10: 115,288,610 (GRCm39) L678P probably benign Het
Lypd5 A G 7: 24,050,982 (GRCm39) H31R possibly damaging Het
Mmp19 G A 10: 128,634,703 (GRCm39) V440I probably benign Het
Nefm T C 14: 68,358,510 (GRCm39) E508G unknown Het
Nlrp4a A T 7: 26,156,563 (GRCm39) I763L probably benign Het
Or5p61 A T 7: 107,758,711 (GRCm39) V123D possibly damaging Het
Or9g4 T A 2: 85,504,562 (GRCm39) H311L Het
Pcdhb1 T A 18: 37,399,402 (GRCm39) V451D possibly damaging Het
Pfkfb2 T C 1: 130,625,780 (GRCm39) N467D probably benign Het
Ptprc G A 1: 138,043,362 (GRCm39) T63I probably benign Het
Rab9 C T X: 165,240,754 (GRCm39) D186N probably benign Het
Rhobtb2 G A 14: 70,031,373 (GRCm39) P584L probably damaging Het
Rhoc G C 3: 104,699,342 (GRCm39) A44P probably damaging Het
Sardh T C 2: 27,120,477 (GRCm39) E435G possibly damaging Het
Stfa1 A T 16: 36,105,536 (GRCm39) D89V probably damaging Het
Tec T C 5: 72,926,105 (GRCm39) K316E probably damaging Het
Tsen15 A T 1: 152,247,541 (GRCm39) Y150* probably null Het
Ugt1a5 T C 1: 88,094,087 (GRCm39) I105T probably benign Het
Usp25 A G 16: 76,856,178 (GRCm39) D257G probably benign Het
Vmn1r195 A G 13: 22,463,058 (GRCm39) Y176C possibly damaging Het
Wdr31 G A 4: 62,380,442 (GRCm39) A87V probably benign Het
Wwp2 A T 8: 108,212,228 (GRCm39) T177S probably benign Het
Zfp28 T C 7: 6,397,637 (GRCm39) C691R probably 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
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
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'- TCGTGGTTGAACTGCACACG -3'
(R):5'- CCCTAGCATGTCCTGTTTGG -3'

Sequencing Primer
(F):5'- GGTGCCCATCTGTCCGATAAAC -3'
(R):5'- AGCATGTCCTGTTTGGGGTGG -3'
Posted On 2021-04-30