Incidental Mutation 'R0042:Mib2'
ID 63243
Institutional Source Beutler Lab
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
MMRRC Submission 038336-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0042 (G1)
Quality Score 163
Status Validated
Chromosome 4
Chromosomal Location 155739134-155753655 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 155743897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 48 (C48*)
Ref Sequence ENSEMBL: ENSMUSP00000122269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103176] [ENSMUST00000141108]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000103176
AA Change: C223*
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: C223*

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 null
Transcript: ENSMUST00000141108
AA Change: C48*
SMART Domains Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060
AA Change: C48*

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: ENSMUST00000155189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151843
Meta Mutation Damage Score 0.9712 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (71/71)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,059,245 (GRCm39) probably benign Het
Acr T A 15: 89,458,535 (GRCm39) H405Q probably benign Het
Adad1 T C 3: 37,137,322 (GRCm39) probably benign Het
Alox5ap T C 5: 149,216,069 (GRCm39) probably benign Het
Ank2 T C 3: 126,730,280 (GRCm39) D3568G probably damaging Het
Atl3 T G 19: 7,506,388 (GRCm39) I306S probably damaging Het
Atr T A 9: 95,809,409 (GRCm39) probably benign Het
Ccnb2 A G 9: 70,326,335 (GRCm39) V34A probably benign Het
Cdh12 A C 15: 21,537,763 (GRCm39) probably benign Het
Cib1 C T 7: 79,880,126 (GRCm39) V45M probably benign Het
Col6a6 T C 9: 105,657,896 (GRCm39) E772G possibly damaging Het
Dmxl1 C A 18: 49,997,102 (GRCm39) T466K probably benign Het
Dym T C 18: 75,258,610 (GRCm39) probably null Het
Enpp3 A C 10: 24,650,722 (GRCm39) F805V probably damaging Het
Eya1 T C 1: 14,254,713 (GRCm39) D373G probably damaging Het
Gpr179 C T 11: 97,225,757 (GRCm39) V2133I probably benign Het
Grb10 G T 11: 11,886,798 (GRCm39) H435Q probably damaging Het
Gzmm T C 10: 79,530,399 (GRCm39) I190T probably benign Het
Helt T C 8: 46,745,433 (GRCm39) Y150C probably damaging Het
Hrg A T 16: 22,779,886 (GRCm39) probably benign Het
Il17ra T C 6: 120,449,086 (GRCm39) probably benign Het
Inhbc A G 10: 127,193,302 (GRCm39) I238T probably benign Het
Itgb3 A G 11: 104,557,966 (GRCm39) T787A possibly damaging Het
Jakmip2 T G 18: 43,685,210 (GRCm39) probably benign Het
Krt4 T G 15: 101,831,187 (GRCm39) probably benign Het
Lgsn C T 1: 31,229,534 (GRCm39) T85I probably benign Het
Metap1 C T 3: 138,177,918 (GRCm39) V217I probably benign Het
Mroh4 T A 15: 74,482,154 (GRCm39) I768F probably damaging Het
Npas3 T A 12: 54,095,624 (GRCm39) D361E probably damaging Het
Obscn A G 11: 58,943,411 (GRCm39) L4246P probably damaging Het
Or4a78 A C 2: 89,497,798 (GRCm39) V144G probably benign Het
Or7e169 A G 9: 19,757,075 (GRCm39) M280T probably benign Het
Or8h7 A G 2: 86,720,835 (GRCm39) I228T probably damaging Het
P4hb G A 11: 120,459,092 (GRCm39) R134C probably damaging Het
Plcb3 T C 19: 6,943,788 (GRCm39) D71G probably damaging Het
Prex2 T A 1: 11,150,305 (GRCm39) V159E probably damaging Het
Prpsap1 T A 11: 116,370,482 (GRCm39) K158N probably benign Het
Prr35 C A 17: 26,166,956 (GRCm39) E194* probably null Het
Ptger1 G T 8: 84,394,795 (GRCm39) V91L probably benign Het
Rdh10 T C 1: 16,178,260 (GRCm39) probably benign Het
Rgs9bp C A 7: 35,284,458 (GRCm39) R63L probably damaging Het
Slc13a5 A T 11: 72,149,940 (GRCm39) V173E probably benign Het
Spata31 A T 13: 65,070,377 (GRCm39) I842L probably benign Het
Stk32b A C 5: 37,874,092 (GRCm39) D13E probably benign Het
Svep1 T C 4: 58,123,192 (GRCm39) D708G possibly damaging Het
Taar6 T C 10: 23,861,021 (GRCm39) D175G probably benign Het
Thbs1 A C 2: 117,953,358 (GRCm39) D925A probably damaging Het
Tnr A T 1: 159,714,595 (GRCm39) T825S probably benign Het
Ttc23l A C 15: 10,551,627 (GRCm39) L33W probably damaging Het
Ttc39d T C 17: 80,523,379 (GRCm39) Y13H probably benign Het
Vmn2r102 C A 17: 19,880,851 (GRCm39) P64Q probably damaging Het
Vps11 G T 9: 44,267,588 (GRCm39) Y341* probably null Het
Vsig8 T C 1: 172,387,925 (GRCm39) V5A possibly damaging Het
Vwce C T 19: 10,624,177 (GRCm39) A356V probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TCCAGCAGACACTTGACCTTGTCC -3'
(R):5'- GGCATCTTTCAAGGAGCTAAGGTGG -3'

Sequencing Primer
(F):5'- TTGTCCCCACGCTGGAAG -3'
(R):5'- AGGCCCTGACTGGGAATG -3'
Posted On 2013-07-30