Incidental Mutation 'R4584:Mib2'
ID 343903
Institutional Source Beutler Lab
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
MMRRC Submission 041805-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4584 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155739134-155753655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 155741744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 293 (A293S)
Ref Sequence ENSEMBL: ENSMUSP00000122269 (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: A432S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: A432S

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 probably damaging
Transcript: ENSMUST00000141108
AA Change: A293S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060
AA Change: A293S

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: ENSMUST00000139242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155189
Meta Mutation Damage Score 0.1943 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 97% (86/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A G 8: 120,886,756 (GRCm39) N343D probably damaging Het
9530002B09Rik T A 4: 122,594,979 (GRCm39) D78E possibly damaging Het
A2m C A 6: 121,634,365 (GRCm39) D632E probably benign Het
Alpk2 A G 18: 65,440,035 (GRCm39) S453P probably damaging Het
Birc2 A T 9: 7,833,675 (GRCm39) F269I probably damaging Het
Ccdc66 G A 14: 27,222,468 (GRCm39) P92S probably benign Het
Cdc34 T A 10: 79,523,869 (GRCm39) D108E possibly damaging Het
Cdk5rap2 A C 4: 70,184,997 (GRCm39) V1151G probably damaging Het
Cemip T C 7: 83,607,747 (GRCm39) K753R probably damaging Het
Cep295 A T 9: 15,246,095 (GRCm39) L787Q possibly damaging Het
Cideb T C 14: 55,995,727 (GRCm39) N8S probably benign Het
Dagla A G 19: 10,248,373 (GRCm39) Y96H probably damaging Het
Dapl1 C A 2: 59,335,086 (GRCm39) T80K possibly damaging Het
Ddx6 T C 9: 44,535,784 (GRCm39) V171A probably damaging Het
Dnah12 C A 14: 26,494,551 (GRCm39) T34K probably damaging Het
Dnhd1 T C 7: 105,327,256 (GRCm39) L735P probably damaging Het
Ep400 T A 5: 110,881,763 (GRCm39) probably benign Het
Erlin1 G T 19: 44,057,758 (GRCm39) Y22* probably null Het
Gmcl1 A G 6: 86,699,605 (GRCm39) S141P probably damaging Het
Gtf2a1 C T 12: 91,529,700 (GRCm39) V338I possibly damaging Het
H2-T15 A T 17: 36,368,559 (GRCm39) M123K probably damaging Het
Ighv1-66 T A 12: 115,557,016 (GRCm39) Q22L possibly damaging Het
Igkv4-80 T C 6: 68,993,720 (GRCm39) Y57C probably damaging Het
Itpk1 G A 12: 102,536,416 (GRCm39) A410V possibly damaging Het
Itsn1 T A 16: 91,617,471 (GRCm39) probably benign Het
Kcnk3 G T 5: 30,745,730 (GRCm39) A24S probably damaging Het
Kif20a A G 18: 34,765,664 (GRCm39) Y887C probably damaging Het
Klf13 T C 7: 63,587,718 (GRCm39) T193A possibly damaging Het
Klhl9 G T 4: 88,640,144 (GRCm39) H32Q probably damaging Het
Kndc1 C G 7: 139,481,159 (GRCm39) P82A probably damaging Het
Llgl1 T A 11: 60,602,908 (GRCm39) L861Q probably damaging Het
Lpcat2 A G 8: 93,615,999 (GRCm39) E305G probably damaging Het
Mtfr1 A G 3: 19,269,766 (GRCm39) E138G probably damaging Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Ninj1 T A 13: 49,347,442 (GRCm39) probably null Het
Nlgn2 A T 11: 69,725,104 (GRCm39) V54E possibly damaging Het
Nlrc5 A C 8: 95,203,903 (GRCm39) I668L probably damaging Het
Npy6r T A 18: 44,409,262 (GRCm39) C228S probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Nup107 T C 10: 117,602,273 (GRCm39) I513M probably benign Het
Oit3 T C 10: 59,261,284 (GRCm39) D461G probably damaging Het
Or2ab1 T A 11: 58,488,830 (GRCm39) F205I probably benign Het
Paxbp1 T C 16: 90,831,011 (GRCm39) D455G probably damaging Het
Pcdh7 A T 5: 57,878,625 (GRCm39) T727S probably damaging Het
Pex14 G A 4: 149,055,053 (GRCm39) A113V probably damaging Het
Phc3 A G 3: 31,020,031 (GRCm39) V23A possibly damaging Het
Plec T C 15: 76,115,406 (GRCm39) D56G possibly damaging Het
Plekha7 C A 7: 115,836,768 (GRCm39) probably benign Het
Prdm16 T C 4: 154,422,140 (GRCm39) E885G probably damaging Het
Prss1l T C 6: 41,373,701 (GRCm39) L188P probably benign Het
Psd2 A G 18: 36,145,881 (GRCm39) T762A probably benign Het
Psme4 T A 11: 30,784,318 (GRCm39) H964Q probably damaging Het
Rbak C T 5: 143,161,878 (GRCm39) V51I probably benign Het
Rbfa A G 18: 80,243,721 (GRCm39) L15P probably benign Het
Ren1 T C 1: 133,282,546 (GRCm39) Y84H probably damaging Het
Rps6ka5 A T 12: 100,547,577 (GRCm39) I311N probably damaging Het
Samd14 T A 11: 94,912,361 (GRCm39) probably null Het
Scaf4 T C 16: 90,026,403 (GRCm39) probably benign Het
Serpina12 A T 12: 104,004,611 (GRCm39) L7Q unknown Het
Serpinb9d A T 13: 33,384,599 (GRCm39) E192V probably damaging Het
Slc22a29 A T 19: 8,146,655 (GRCm39) F382L probably benign Het
Snta1 T A 2: 154,220,035 (GRCm39) D375V probably benign Het
Stat5b T A 11: 100,678,064 (GRCm39) Y683F probably damaging Het
Strip1 A T 3: 107,531,819 (GRCm39) Y257N probably benign Het
Sugp2 A G 8: 70,704,548 (GRCm39) H695R probably benign Het
Svep1 T A 4: 58,068,526 (GRCm39) R3087* probably null Het
Syngr2 T C 11: 117,703,947 (GRCm39) V138A probably damaging Het
Thra T C 11: 98,655,310 (GRCm39) F397L probably benign Het
Tmem45b T A 9: 31,339,951 (GRCm39) I149F probably damaging Het
Tmprss11f C T 5: 86,687,553 (GRCm39) probably null Het
Ush2a C T 1: 188,183,995 (GRCm39) T1433I probably benign Het
Vmn2r109 A T 17: 20,774,820 (GRCm39) Y178* probably null Het
Vmn2r84 T G 10: 130,226,582 (GRCm39) M419L probably benign Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp268 T A 4: 145,343,747 (GRCm39) probably null Het
Zfp276 A G 8: 123,995,145 (GRCm39) probably benign Het
Zfp568 T G 7: 29,697,617 (GRCm39) F100V probably benign Het
Zfp667 T A 7: 6,293,624 (GRCm39) D41E possibly 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
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'- ACAGTCCATTTGCACACCG -3'
(R):5'- AAGCTTCGGACCCAGAAGAG -3'

Sequencing Primer
(F):5'- TTTGCACACCGGCTCTAAAG -3'
(R):5'- TTCGGACCCAGAAGAGTGACC -3'
Posted On 2015-09-24