Incidental Mutation 'R5036:Mib2'
ID 389533
Institutional Source Beutler Lab
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
MMRRC Submission 042627-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5036 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155739134-155753655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155740745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 626 (N626K)
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: N626K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: N626K

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 noncoding transcript
Transcript: ENSMUST00000139788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156906
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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 100% (44/44)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,275,578 (GRCm39) G427D possibly damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
C4b T A 17: 34,959,419 (GRCm39) probably null Het
Cabyr A T 18: 12,884,303 (GRCm39) E263D probably damaging Het
Car1 A T 3: 14,841,299 (GRCm39) D45E possibly damaging Het
Col25a1 T C 3: 130,376,978 (GRCm39) probably null Het
Dnah6 G T 6: 73,021,674 (GRCm39) S3549R probably benign Het
Dync1h1 A T 12: 110,596,969 (GRCm39) I1639F probably damaging Het
Fhad1 A T 4: 141,648,052 (GRCm39) D271E probably benign Het
Gle1 T C 2: 29,826,223 (GRCm39) S101P probably benign Het
Gm4781 C A 10: 100,232,851 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,461 (GRCm39) Y232C probably damaging Het
Gtf2ird2 A G 5: 134,246,349 (GRCm39) N869S probably damaging Het
Ifi204 G A 1: 173,580,311 (GRCm39) P400S possibly damaging Het
Ighv2-2 T C 12: 113,552,092 (GRCm39) T49A possibly damaging Het
Itsn1 T A 16: 91,579,123 (GRCm39) probably benign Het
Nf1 C A 11: 79,337,690 (GRCm39) Q1098K probably damaging Het
Odc1 C A 12: 17,598,020 (GRCm39) Q116K probably damaging Het
Otof C T 5: 30,541,783 (GRCm39) E761K possibly damaging Het
Palld A T 8: 62,003,196 (GRCm39) V301D probably damaging Het
Pask A T 1: 93,249,801 (GRCm39) L533* probably null Het
Plekhh2 T C 17: 84,879,189 (GRCm39) S638P probably damaging Het
Scaf8 T A 17: 3,214,537 (GRCm39) probably benign Het
Sdccag8 G T 1: 176,839,541 (GRCm39) R695L probably damaging Het
Serpina1c A G 12: 103,865,085 (GRCm39) I187T probably damaging Het
Slitrk5 G T 14: 111,918,316 (GRCm39) G647W possibly damaging Het
Sycp1 T A 3: 102,727,916 (GRCm39) K899M probably damaging Het
Taok1 G A 11: 77,440,157 (GRCm39) R617C probably benign Het
Tbc1d32 A C 10: 56,071,500 (GRCm39) Y341* probably null Het
Tenm4 A G 7: 96,343,997 (GRCm39) N267D probably damaging Het
Tenm4 T C 7: 96,501,768 (GRCm39) V1287A probably damaging Het
Tsga10 A T 1: 37,823,049 (GRCm39) V488E possibly damaging Het
Ttc39c G T 18: 12,820,138 (GRCm39) probably null Het
Uck1 A T 2: 32,148,478 (GRCm39) probably benign Het
Vmn2r98 A G 17: 19,286,419 (GRCm39) I306V 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
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
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'- TTCCTCACCCTTGACAGCAG -3'
(R):5'- AGGATGGCTTTACCGCACTG -3'

Sequencing Primer
(F):5'- CTTGACAGCAGCTGCAAGG -3'
(R):5'- TACCGCACTGCATCTGGC -3'
Posted On 2016-06-06