Incidental Mutation 'R3753:Mib2'
ID 271303
Institutional Source Beutler Lab
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3753 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155739134-155753655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155739741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 810 (F810S)
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: F810S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: F810S

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: ENSMUST00000151843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139788
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 0.2813 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (49/50)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,121,677 (GRCm39) I74N probably damaging Het
Acp7 T A 7: 28,316,085 (GRCm39) Y167F probably damaging Het
Acsl1 A T 8: 46,966,602 (GRCm39) probably benign Het
Bcr T C 10: 74,971,772 (GRCm39) V599A probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep152 A G 2: 125,466,972 (GRCm39) probably benign Het
Cstf2t T G 19: 31,060,695 (GRCm39) L77R probably damaging Het
Drd3 C T 16: 43,637,466 (GRCm39) R254W probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fam187a C T 11: 102,776,675 (GRCm39) P160S probably benign Het
Fat1 G A 8: 45,478,516 (GRCm39) E2521K probably damaging Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Flii T C 11: 60,606,306 (GRCm39) D1128G probably benign Het
Gask1a A T 9: 121,794,899 (GRCm39) D351V probably damaging Het
Gata3 T A 2: 9,873,651 (GRCm39) H281L probably benign Het
Iqsec3 C T 6: 121,353,214 (GRCm39) A1135T probably benign Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Nbn G A 4: 15,964,269 (GRCm39) V115I probably damaging Het
Nfyc G T 4: 120,622,527 (GRCm39) probably benign Het
Nup210 A T 6: 90,998,377 (GRCm39) probably null Het
Or2g1 T C 17: 38,107,123 (GRCm39) S263P possibly damaging Het
Or2t48 C T 11: 58,420,516 (GRCm39) A99T probably benign Het
Or8j3b C T 2: 86,205,259 (GRCm39) V166I possibly damaging Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Plce1 T C 19: 38,640,278 (GRCm39) V508A probably benign Het
Prmt2 G T 10: 76,061,137 (GRCm39) D116E probably benign Het
Prss51 T A 14: 64,333,624 (GRCm39) probably benign Het
Prune2 T A 19: 17,102,818 (GRCm39) V2659D probably benign Het
Ptpn3 C T 4: 57,270,144 (GRCm39) R6H probably damaging Het
Ramac C T 7: 81,417,395 (GRCm39) R32C probably damaging Het
Rdh12 C T 12: 79,260,446 (GRCm39) R181* probably null Het
Rsf1 T A 7: 97,311,359 (GRCm39) D696E probably benign Het
Sh3rf2 C T 18: 42,244,373 (GRCm39) R280C probably damaging Het
Slco6d1 T A 1: 98,427,502 (GRCm39) I611K probably damaging Het
Snph G A 2: 151,435,374 (GRCm39) P449L probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
Swap70 T A 7: 109,867,088 (GRCm39) W297R probably damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tcstv2c A T 13: 120,616,167 (GRCm39) D2V possibly damaging Het
Tox2 T A 2: 163,156,243 (GRCm39) I138N probably damaging Het
Trim54 A C 5: 31,291,488 (GRCm39) E203A probably damaging Het
Vmn2r19 A T 6: 123,292,548 (GRCm39) T197S possibly damaging Het
Vmn2r28 T A 7: 5,491,026 (GRCm39) H407L probably damaging Het
Wdr19 G A 5: 65,382,069 (GRCm39) V430M 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
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'- TTCTTGCTGATGACCACCTG -3'
(R):5'- CCATGATGGAGGGCTTGTAG -3'

Sequencing Primer
(F):5'- TGATGACCACCTGGCACCTG -3'
(R):5'- CAACCATTAAGGCCATTGGG -3'
Posted On 2015-03-18