Incidental Mutation 'R2072:Mib2'
ID 227209
Institutional Source Beutler Lab
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms 2210008I11Rik, Zzank1
MMRRC Submission 040077-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2072 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 155654677-155669198 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155659701 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 168 (D168G)
Ref Sequence ENSEMBL: ENSMUSP00000099465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103176] [ENSMUST00000141108]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000103176
AA Change: D168G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: D168G

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: ENSMUST00000139134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139788
Predicted Effect probably benign
Transcript: ENSMUST00000141108
SMART Domains Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype Strain: 3652500; 3804450
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G C 5: 63,898,737 (GRCm38) R272P possibly damaging Het
9130011E15Rik A T 19: 45,965,381 (GRCm38) I188K probably damaging Het
Ablim3 A T 18: 61,857,088 (GRCm38) D83E possibly damaging Het
Aco1 G A 4: 40,183,605 (GRCm38) G508S probably damaging Het
Adamts13 C A 2: 27,005,425 (GRCm38) T1176N probably benign Het
Adgre5 T C 8: 83,727,804 (GRCm38) T357A probably benign Het
Akap8l C T 17: 32,332,483 (GRCm38) R511H probably damaging Het
Ankrd33 T C 15: 101,119,636 (GRCm38) V310A probably benign Het
Bnipl C T 3: 95,244,211 (GRCm38) G232E probably damaging Het
Btbd17 A T 11: 114,791,952 (GRCm38) probably null Het
Cacna1s G A 1: 136,079,504 (GRCm38) V173I probably benign Het
Ccdc122 T C 14: 77,068,951 (GRCm38) probably null Het
Ces1a T A 8: 93,048,075 (GRCm38) N12Y probably benign Het
Chrdl1 T C X: 143,303,418 (GRCm38) I231V probably benign Het
Ciita C T 16: 10,518,353 (GRCm38) T958I probably benign Het
Cnot1 G T 8: 95,739,833 (GRCm38) T1592K possibly damaging Het
Dcaf15 T C 8: 84,101,741 (GRCm38) D240G probably damaging Het
Ddx58 A T 4: 40,224,069 (GRCm38) probably null Het
Dlgap1 C T 17: 70,662,770 (GRCm38) R524C probably damaging Het
Dmd G C X: 84,312,483 (GRCm38) A2257P probably benign Het
Dsg1c A G 18: 20,275,252 (GRCm38) M453V probably benign Het
Ednrb G T 14: 103,817,099 (GRCm38) N432K probably benign Het
Fcgbp G A 7: 28,120,389 (GRCm38) G2514S probably damaging Het
Fez1 A G 9: 36,867,945 (GRCm38) K306R probably benign Het
Fmo4 A G 1: 162,809,887 (GRCm38) V12A probably benign Het
Fpgt T C 3: 155,087,874 (GRCm38) Y172C probably damaging Het
Fsip2 T A 2: 83,008,815 (GRCm38) F6976I possibly damaging Het
Galnt12 C T 4: 47,108,477 (GRCm38) R205* probably null Het
Grik5 A T 7: 25,015,313 (GRCm38) M752K possibly damaging Het
Herc2 A G 7: 56,226,964 (GRCm38) N4516S probably damaging Het
Ifrd2 A T 9: 107,592,545 (GRCm38) D439V probably damaging Het
Igsf3 A G 3: 101,439,515 (GRCm38) T609A probably benign Het
Kif5a T C 10: 127,245,369 (GRCm38) D232G probably damaging Het
Lgi2 A G 5: 52,538,505 (GRCm38) S371P probably damaging Het
March3 A T 18: 56,811,853 (GRCm38) V56E possibly damaging Het
Nhs T A X: 161,842,721 (GRCm38) H544L probably damaging Het
Nlrp2 A G 7: 5,325,006 (GRCm38) S683P probably damaging Het
Olfr1260 C A 2: 89,978,213 (GRCm38) T145K probably benign Het
Olfr1454 A T 19: 13,063,680 (GRCm38) M90L probably benign Het
Olfr527 T C 7: 140,336,653 (GRCm38) S264P possibly damaging Het
Onecut3 T G 10: 80,495,014 (GRCm38) L3V unknown Het
Otogl C T 10: 107,781,043 (GRCm38) C1791Y probably damaging Het
Paip1 T C 13: 119,430,262 (GRCm38) V128A possibly damaging Het
Pcnx2 A T 8: 125,761,742 (GRCm38) C1688S possibly damaging Het
Pdzd2 A G 15: 12,385,819 (GRCm38) L955P probably damaging Het
Phlpp2 T C 8: 109,928,492 (GRCm38) S605P possibly damaging Het
Pkhd1l1 G T 15: 44,558,639 (GRCm38) A3102S probably damaging Het
Plxnb2 G T 15: 89,158,451 (GRCm38) R1545S probably damaging Het
Ppp4c T C 7: 126,787,348 (GRCm38) probably null Het
Prune1 C T 3: 95,255,408 (GRCm38) R318Q probably benign Het
Psg27 A G 7: 18,565,009 (GRCm38) L129P probably benign Het
Psg27 T C 7: 18,560,417 (GRCm38) D355G probably damaging Het
Psmc6 A G 14: 45,329,866 (GRCm38) K7E possibly damaging Het
Reln A T 5: 21,919,177 (GRCm38) V2777E probably damaging Het
Scn11a G T 9: 119,811,208 (GRCm38) A207E possibly damaging Het
Slc5a5 C T 8: 70,892,439 (GRCm38) G75R possibly damaging Het
Smarcd2 A T 11: 106,265,307 (GRCm38) L42* probably null Het
Smg1 T C 7: 118,163,166 (GRCm38) probably benign Het
Smurf2 T A 11: 106,841,769 (GRCm38) Q335L probably benign Het
Sspo A T 6: 48,473,517 (GRCm38) H2580L probably benign Het
Stk3 T C 15: 34,959,049 (GRCm38) M256V possibly damaging Het
Syt1 A G 10: 108,583,972 (GRCm38) I276T probably damaging Het
Syt10 C T 15: 89,790,776 (GRCm38) D456N probably damaging Het
Taar9 A T 10: 24,108,979 (GRCm38) C186S probably damaging Het
Tnrc6b C T 15: 80,882,965 (GRCm38) P977L possibly damaging Het
Trp53bp2 A G 1: 182,458,867 (GRCm38) T1091A probably benign Het
Ttn G T 2: 76,937,776 (GRCm38) T2947N probably damaging Het
Ube2q1 T C 3: 89,779,571 (GRCm38) probably null Het
Ube3c A G 5: 29,635,640 (GRCm38) E671G probably benign Het
Upf3a A G 8: 13,785,850 (GRCm38) K56R possibly damaging Het
Vmn2r15 A T 5: 109,286,753 (GRCm38) M695K possibly damaging Het
Vmn2r3 A T 3: 64,275,072 (GRCm38) M402K possibly damaging Het
Zfp354b T A 11: 50,922,452 (GRCm38) R549* probably null Het
Zfp37 A T 4: 62,191,708 (GRCm38) M411K probably damaging Het
Zfp747 T A 7: 127,373,970 (GRCm38) T343S possibly damaging Het
Zfp853 T A 5: 143,289,382 (GRCm38) Q161L unknown Het
Other mutations in Mib2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Mib2 APN 4 155,657,730 (GRCm38) missense probably damaging 1.00
IGL01404:Mib2 APN 4 155,654,936 (GRCm38) missense probably damaging 1.00
IGL01819:Mib2 APN 4 155,655,258 (GRCm38) splice site probably null
IGL02147:Mib2 APN 4 155,657,687 (GRCm38) missense probably benign
IGL02260:Mib2 APN 4 155,661,171 (GRCm38) missense probably damaging 1.00
IGL02472:Mib2 APN 4 155,656,746 (GRCm38) missense probably damaging 1.00
IGL02632:Mib2 APN 4 155,655,579 (GRCm38) missense probably damaging 0.98
IGL03051:Mib2 APN 4 155,657,290 (GRCm38) missense probably damaging 1.00
IGL03077:Mib2 APN 4 155,659,443 (GRCm38) missense probably benign 0.01
R0042:Mib2 UTSW 4 155,659,440 (GRCm38) nonsense probably null
R0042:Mib2 UTSW 4 155,659,440 (GRCm38) nonsense probably null
R0115:Mib2 UTSW 4 155,656,062 (GRCm38) unclassified probably benign
R0193:Mib2 UTSW 4 155,655,673 (GRCm38) missense probably benign
R0279:Mib2 UTSW 4 155,661,216 (GRCm38) missense possibly damaging 0.89
R0373:Mib2 UTSW 4 155,656,288 (GRCm38) missense probably damaging 1.00
R0481:Mib2 UTSW 4 155,656,062 (GRCm38) unclassified probably benign
R0563:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R0564:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R0625:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R0714:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R0740:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R0942:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R0987:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R1023:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R1033:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R1037:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R1460:Mib2 UTSW 4 155,659,460 (GRCm38) missense probably damaging 1.00
R1481:Mib2 UTSW 4 155,656,999 (GRCm38) missense probably benign 0.01
R1712:Mib2 UTSW 4 155,654,799 (GRCm38) missense probably damaging 1.00
R2015:Mib2 UTSW 4 155,657,880 (GRCm38) missense probably damaging 1.00
R2131:Mib2 UTSW 4 155,655,238 (GRCm38) splice site probably null
R2187:Mib2 UTSW 4 155,654,933 (GRCm38) missense possibly damaging 0.95
R3751:Mib2 UTSW 4 155,655,284 (GRCm38) missense probably damaging 1.00
R3752:Mib2 UTSW 4 155,655,284 (GRCm38) missense probably damaging 1.00
R3753:Mib2 UTSW 4 155,655,284 (GRCm38) missense probably damaging 1.00
R4381:Mib2 UTSW 4 155,657,612 (GRCm38) missense possibly damaging 0.55
R4584:Mib2 UTSW 4 155,657,287 (GRCm38) missense probably damaging 1.00
R4669:Mib2 UTSW 4 155,657,415 (GRCm38) missense possibly damaging 0.49
R4754:Mib2 UTSW 4 155,655,365 (GRCm38) missense possibly damaging 0.90
R4782:Mib2 UTSW 4 155,659,772 (GRCm38) missense probably benign 0.00
R4799:Mib2 UTSW 4 155,659,772 (GRCm38) missense probably benign 0.00
R5036:Mib2 UTSW 4 155,656,288 (GRCm38) missense probably damaging 1.00
R5073:Mib2 UTSW 4 155,656,776 (GRCm38) missense probably damaging 1.00
R5915:Mib2 UTSW 4 155,656,051 (GRCm38) unclassified probably benign
R6695:Mib2 UTSW 4 155,661,172 (GRCm38) missense probably damaging 1.00
R7039:Mib2 UTSW 4 155,659,701 (GRCm38) missense probably damaging 0.99
R7234:Mib2 UTSW 4 155,657,893 (GRCm38) missense probably damaging 1.00
R7582:Mib2 UTSW 4 155,654,810 (GRCm38) missense probably benign
R8133:Mib2 UTSW 4 155,657,001 (GRCm38) missense probably benign 0.00
R8704:Mib2 UTSW 4 155,659,163 (GRCm38) missense possibly damaging 0.93
R8904:Mib2 UTSW 4 155,659,716 (GRCm38) missense probably damaging 0.99
R8987:Mib2 UTSW 4 155,660,894 (GRCm38) missense probably benign 0.01
R8988:Mib2 UTSW 4 155,656,272 (GRCm38) missense possibly damaging 0.47
R9336:Mib2 UTSW 4 155,658,937 (GRCm38) missense probably benign
R9537:Mib2 UTSW 4 155,657,495 (GRCm38) missense probably damaging 1.00
R9640:Mib2 UTSW 4 155,660,868 (GRCm38) missense possibly damaging 0.77
X0012:Mib2 UTSW 4 155,655,395 (GRCm38) splice site probably null
Z1176:Mib2 UTSW 4 155,661,141 (GRCm38) missense probably benign 0.06
Z1177:Mib2 UTSW 4 155,655,521 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTACACGTTCGTGGTTCCATCTG -3'
(R):5'- AATGACCCAGATGCCGTTAGG -3'

Sequencing Primer
(F):5'- GTCACACTGGCCACACTTCG -3'
(R):5'- CCCAGATGCCGTTAGGAGAGAG -3'
Posted On 2014-09-17