Incidental Mutation 'R5070:Mib1'
ID 388720
Institutional Source Beutler Lab
Gene Symbol Mib1
Ensembl Gene ENSMUSG00000024294
Gene Name MIB E3 ubiquitin protein ligase 1
Synonyms skeletrophin, mindbomb, Mib, mind bomb-1, E430019M12Rik
MMRRC Submission 042660-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5070 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 10725548-10818704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10793002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 646 (E646G)
Ref Sequence ENSEMBL: ENSMUSP00000131712 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052838] [ENSMUST00000165555]
AlphaFold Q80SY4
Predicted Effect probably damaging
Transcript: ENSMUST00000052838
AA Change: E646G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054428
Gene: ENSMUSG00000024294
AA Change: E646G

DomainStartEndE-ValueType
Pfam:MIB_HERC2 15 72 5.6e-21 PFAM
ZnF_ZZ 79 124 1.01e-10 SMART
Pfam:MIB_HERC2 154 219 4.9e-31 PFAM
ANK 430 460 1.63e3 SMART
ANK 463 492 2.1e-3 SMART
ANK 496 525 2.47e2 SMART
ANK 529 558 6.02e-4 SMART
ANK 562 591 1.14e-4 SMART
ANK 595 626 6.26e-2 SMART
ANK 631 661 1.24e-5 SMART
ANK 665 694 9.27e-5 SMART
ANK 698 729 1.04e2 SMART
RING 819 853 1.8e-1 SMART
RING 866 900 1.9e-1 SMART
RING 963 995 4.58e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000124288
AA Change: E280G
SMART Domains Protein: ENSMUSP00000114289
Gene: ENSMUSG00000024294
AA Change: E280G

DomainStartEndE-ValueType
ANK 65 95 1.63e3 SMART
ANK 98 127 2.1e-3 SMART
ANK 131 160 2.47e2 SMART
ANK 164 193 6.02e-4 SMART
ANK 197 226 1.14e-4 SMART
ANK 230 261 6.26e-2 SMART
ANK 266 296 1.24e-5 SMART
ANK 300 329 9.27e-5 SMART
ANK 333 364 1.04e2 SMART
RING 454 488 1.8e-1 SMART
RING 501 535 1.9e-1 SMART
RING 598 630 4.58e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165555
AA Change: E646G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131712
Gene: ENSMUSG00000024294
AA Change: E646G

DomainStartEndE-ValueType
Pfam:MIB_HERC2 15 74 5.7e-25 PFAM
ZnF_ZZ 79 124 1.01e-10 SMART
Pfam:MIB_HERC2 154 221 5.5e-31 PFAM
ANK 430 460 1.63e3 SMART
ANK 463 492 2.1e-3 SMART
ANK 496 525 2.47e2 SMART
ANK 529 558 6.02e-4 SMART
ANK 562 591 1.14e-4 SMART
ANK 595 626 6.26e-2 SMART
ANK 631 661 1.24e-5 SMART
ANK 665 694 9.27e-5 SMART
ANK 698 729 1.04e2 SMART
RING 819 853 1.8e-1 SMART
RING 866 900 1.9e-1 SMART
RING 963 995 4.58e-4 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis, failure of heart looping, impaired angiogenesis and arterial specification, premature neuronal precursor differentiation, posterior truncation, and abnormal somitogenesis with loss ofposterior markers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,749 (GRCm39) S739P possibly damaging Het
Acacb T C 5: 114,384,089 (GRCm39) I2206T possibly damaging Het
Actn2 A G 13: 12,303,408 (GRCm39) I464T possibly damaging Het
AI987944 C T 7: 41,024,748 (GRCm39) G77D probably benign Het
Ankar T C 1: 72,719,369 (GRCm39) probably null Het
Armc9 A T 1: 86,184,959 (GRCm39) H670L probably benign Het
Arvcf A G 16: 18,217,736 (GRCm39) Y412C probably damaging Het
Baiap3 A T 17: 25,468,082 (GRCm39) C283S probably damaging Het
Bend3 A T 10: 43,369,681 (GRCm39) E11D probably damaging Het
Birc6 C T 17: 74,872,967 (GRCm39) R409C probably damaging Het
Cds2 T A 2: 132,144,008 (GRCm39) Y4* probably null Het
Celsr1 G T 15: 85,823,335 (GRCm39) P1691Q possibly damaging Het
Chmp1a A T 8: 123,933,054 (GRCm39) V133E probably benign Het
Cnbd2 T C 2: 156,177,318 (GRCm39) V92A probably damaging Het
Comp G A 8: 70,829,145 (GRCm39) G272S probably benign Het
Csnk1a1 T A 18: 61,688,852 (GRCm39) F11I probably benign Het
Ctse A G 1: 131,595,917 (GRCm39) D203G probably damaging Het
Cyp1b1 T A 17: 80,018,040 (GRCm39) M372L probably benign Het
Cyp2c66 T A 19: 39,151,914 (GRCm39) S210T probably benign Het
Dnah1 G A 14: 31,004,375 (GRCm39) P2385S probably benign Het
Dsp A C 13: 38,381,099 (GRCm39) T2615P possibly damaging Het
Eif4g3 A G 4: 137,873,610 (GRCm39) T682A probably benign Het
Enpp2 T C 15: 54,727,450 (GRCm39) Y513C probably damaging Het
Ercc6 T C 14: 32,292,020 (GRCm39) V1128A probably benign Het
Fam136b-ps C T 15: 31,276,862 (GRCm39) probably benign Het
Fbxl7 T A 15: 26,789,640 (GRCm39) H29L probably benign Het
Fbxw22 A G 9: 109,214,183 (GRCm39) V211A probably benign Het
Frk A T 10: 34,360,280 (GRCm39) K94* probably null Het
G0s2 T A 1: 192,954,870 (GRCm39) E71D probably damaging Het
Gfpt1 A G 6: 87,030,727 (GRCm39) probably null Het
Gga1 A G 15: 78,776,217 (GRCm39) D420G possibly damaging Het
Gldc T C 19: 30,095,998 (GRCm39) Q671R possibly damaging Het
Gpc6 A G 14: 117,424,181 (GRCm39) T90A probably benign Het
Gucy2g C A 19: 55,218,219 (GRCm39) V410F probably damaging Het
Ifnlr1 T C 4: 135,431,509 (GRCm39) S233P probably benign Het
Ighv1-9 A T 12: 114,547,377 (GRCm39) W55R probably damaging Het
Igsf10 T A 3: 59,235,714 (GRCm39) H1489L probably benign Het
Il17re T C 6: 113,435,971 (GRCm39) L39P probably damaging Het
Irag1 A G 7: 110,524,519 (GRCm39) S208P probably benign Het
Kcna2 T A 3: 107,011,953 (GRCm39) V178D probably damaging Het
Kcnk3 A G 5: 30,779,730 (GRCm39) H260R possibly damaging Het
Kctd19 T C 8: 106,118,631 (GRCm39) Y287C probably damaging Het
Klhl28 A T 12: 65,004,486 (GRCm39) M9K probably benign Het
Lama2 A G 10: 27,226,247 (GRCm39) probably null Het
Lrrc27 A T 7: 138,794,715 (GRCm39) D26V probably damaging Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Mei1 T A 15: 81,961,804 (GRCm39) C188S possibly damaging Het
Mettl13 C T 1: 162,373,468 (GRCm39) R261H possibly damaging Het
Mex3a A T 3: 88,443,694 (GRCm39) I257F probably damaging Het
Mier2 T C 10: 79,385,411 (GRCm39) D139G probably benign Het
Mmp14 T A 14: 54,676,570 (GRCm39) Y372N probably damaging Het
Myh14 A G 7: 44,265,672 (GRCm39) V1569A possibly damaging Het
Myo18b T C 5: 112,909,212 (GRCm39) E1977G probably damaging Het
Myo3b T C 2: 70,083,456 (GRCm39) L675P probably damaging Het
N4bp1 A G 8: 87,587,165 (GRCm39) V591A probably damaging Het
Nedd9 C A 13: 41,470,074 (GRCm39) V360L probably benign Het
Oit3 C T 10: 59,259,849 (GRCm39) R518H probably damaging Het
Or10ag57 T G 2: 87,218,507 (GRCm39) C153G probably damaging Het
Or11g2 A G 14: 50,855,931 (GRCm39) N84S probably benign Het
Or11g2 T A 14: 50,856,197 (GRCm39) C173S probably damaging Het
Or11h4 C A 14: 50,974,531 (GRCm39) L29F probably benign Het
Or1j14 T A 2: 36,417,778 (GRCm39) M118K probably damaging Het
Or2aj6 A G 16: 19,443,742 (GRCm39) I36T possibly damaging Het
Or2j6 A G 7: 139,980,482 (GRCm39) V159A probably benign Het
Or9s23 T A 1: 92,501,135 (GRCm39) S81T probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pask A T 1: 93,258,596 (GRCm39) C251S probably damaging Het
Pdzk1 A T 3: 96,757,637 (GRCm39) D31V probably benign Het
Pmfbp1 A T 8: 110,256,787 (GRCm39) Q497L probably damaging Het
Pofut1 T C 2: 153,103,486 (GRCm39) probably benign Het
Polr2h A G 16: 20,540,716 (GRCm39) N95S probably damaging Het
Pou2f3 A G 9: 43,056,578 (GRCm39) V93A possibly damaging Het
Ppfia1 G A 7: 144,068,210 (GRCm39) Q446* probably null Het
Prkd1 A T 12: 50,441,405 (GRCm39) L327* probably null Het
Prrt4 T C 6: 29,177,511 (GRCm39) E86G probably benign Het
Psen2 T C 1: 180,056,422 (GRCm39) I393V probably benign Het
Psma2 G A 13: 14,790,613 (GRCm39) V20I probably benign Het
Qser1 C T 2: 104,617,627 (GRCm39) V1062I possibly damaging Het
Rab11b G T 17: 33,967,855 (GRCm39) A114D probably damaging Het
Rag1 A T 2: 101,472,656 (GRCm39) W829R probably damaging Het
Rgl3 A G 9: 21,899,340 (GRCm39) probably null Het
Rgs8 C T 1: 153,541,650 (GRCm39) T3I probably damaging Het
Rnf17 T C 14: 56,743,385 (GRCm39) V1317A probably damaging Het
Rps6kb2 A T 19: 4,213,227 (GRCm39) D6E probably damaging Het
Shisal1 G T 15: 84,304,364 (GRCm39) A14E possibly damaging Het
Skint5 T A 4: 113,652,735 (GRCm39) I630F unknown Het
Skint7 T C 4: 111,841,331 (GRCm39) L257P probably damaging Het
Slc11a1 G A 1: 74,424,343 (GRCm39) A434T probably damaging Het
Slc5a8 A T 10: 88,722,460 (GRCm39) I98F possibly damaging Het
Sorl1 T C 9: 41,943,114 (GRCm39) K921E possibly damaging Het
Stub1 A G 17: 26,051,112 (GRCm39) L90P probably damaging Het
Sycp1 A T 3: 102,827,881 (GRCm39) S289T probably damaging Het
Taar7b T G 10: 23,876,359 (GRCm39) S175A probably benign Het
Tead3 T C 17: 28,560,451 (GRCm39) K51R probably benign Het
Tmed11 T A 5: 108,943,089 (GRCm39) I30L probably benign Het
Tmem131 A G 1: 36,893,986 (GRCm39) I139T probably damaging Het
Tmem191 A G 16: 17,095,559 (GRCm39) Q206R probably null Het
Tph2 T A 10: 114,987,079 (GRCm39) Y237F probably benign Het
Trim35 C T 14: 66,546,421 (GRCm39) probably benign Het
Tsc22d1 T C 14: 76,655,750 (GRCm39) I661T probably benign Het
Ttc27 T A 17: 75,106,337 (GRCm39) H541Q probably damaging Het
Uqcrq A G 11: 53,320,954 (GRCm39) probably null Het
Vmn1r215 T A 13: 23,260,666 (GRCm39) S235R probably benign Het
Vmn1r70 T C 7: 10,368,325 (GRCm39) V271A probably benign Het
Vps13a G A 19: 16,631,848 (GRCm39) R2596C probably benign Het
Vwa7 G A 17: 35,243,166 (GRCm39) V615I probably benign Het
Wdr90 T C 17: 26,065,307 (GRCm39) T1650A probably damaging Het
Zbtb32 T A 7: 30,290,891 (GRCm39) M135L probably benign Het
Zc2hc1c A G 12: 85,337,288 (GRCm39) D315G probably benign Het
Zfc3h1 T A 10: 115,254,688 (GRCm39) C1427* probably null Het
Zfp30 A G 7: 29,485,691 (GRCm39) probably benign Het
Zfp428 T A 7: 24,214,550 (GRCm39) D55E probably damaging Het
Zfyve26 A T 12: 79,302,135 (GRCm39) N1820K probably damaging Het
Zw10 C A 9: 48,988,759 (GRCm39) S675* probably null Het
Other mutations in Mib1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00673:Mib1 APN 18 10,798,490 (GRCm39) missense probably benign 0.02
IGL02300:Mib1 APN 18 10,741,016 (GRCm39) missense probably damaging 1.00
IGL02701:Mib1 APN 18 10,747,357 (GRCm39) missense probably damaging 0.98
IGL02731:Mib1 APN 18 10,800,115 (GRCm39) missense possibly damaging 0.81
IGL03002:Mib1 APN 18 10,798,356 (GRCm39) missense possibly damaging 0.87
IGL03083:Mib1 APN 18 10,752,029 (GRCm39) critical splice donor site probably null
PIT4466001:Mib1 UTSW 18 10,775,541 (GRCm39) missense probably benign 0.01
PIT4468001:Mib1 UTSW 18 10,798,463 (GRCm39) missense possibly damaging 0.86
R0496:Mib1 UTSW 18 10,804,773 (GRCm39) missense probably benign
R1015:Mib1 UTSW 18 10,726,409 (GRCm39) missense probably damaging 1.00
R1237:Mib1 UTSW 18 10,768,149 (GRCm39) missense probably damaging 1.00
R1557:Mib1 UTSW 18 10,798,474 (GRCm39) missense probably damaging 1.00
R1918:Mib1 UTSW 18 10,740,972 (GRCm39) splice site probably null
R1952:Mib1 UTSW 18 10,812,077 (GRCm39) missense possibly damaging 0.94
R1982:Mib1 UTSW 18 10,812,064 (GRCm39) missense probably damaging 1.00
R2009:Mib1 UTSW 18 10,812,118 (GRCm39) missense probably damaging 1.00
R2372:Mib1 UTSW 18 10,812,045 (GRCm39) missense probably damaging 1.00
R2422:Mib1 UTSW 18 10,751,906 (GRCm39) missense probably damaging 1.00
R2922:Mib1 UTSW 18 10,760,831 (GRCm39) nonsense probably null
R2923:Mib1 UTSW 18 10,760,831 (GRCm39) nonsense probably null
R2938:Mib1 UTSW 18 10,752,033 (GRCm39) splice site probably benign
R3814:Mib1 UTSW 18 10,763,281 (GRCm39) missense probably benign 0.09
R3858:Mib1 UTSW 18 10,798,409 (GRCm39) missense possibly damaging 0.56
R4356:Mib1 UTSW 18 10,751,844 (GRCm39) missense probably benign 0.03
R4357:Mib1 UTSW 18 10,751,844 (GRCm39) missense probably benign 0.03
R4358:Mib1 UTSW 18 10,751,844 (GRCm39) missense probably benign 0.03
R4406:Mib1 UTSW 18 10,763,289 (GRCm39) missense probably damaging 1.00
R4497:Mib1 UTSW 18 10,811,985 (GRCm39) missense possibly damaging 0.75
R4593:Mib1 UTSW 18 10,768,191 (GRCm39) missense possibly damaging 0.89
R4623:Mib1 UTSW 18 10,808,086 (GRCm39) missense probably benign 0.02
R5068:Mib1 UTSW 18 10,793,002 (GRCm39) missense probably damaging 0.99
R5069:Mib1 UTSW 18 10,793,002 (GRCm39) missense probably damaging 0.99
R5258:Mib1 UTSW 18 10,795,856 (GRCm39) splice site probably null
R5322:Mib1 UTSW 18 10,792,975 (GRCm39) missense probably damaging 1.00
R5589:Mib1 UTSW 18 10,794,488 (GRCm39) missense probably benign 0.00
R5622:Mib1 UTSW 18 10,794,503 (GRCm39) missense possibly damaging 0.90
R6401:Mib1 UTSW 18 10,795,802 (GRCm39) missense probably benign
R6928:Mib1 UTSW 18 10,802,282 (GRCm39) missense probably benign 0.02
R7242:Mib1 UTSW 18 10,741,011 (GRCm39) missense probably damaging 1.00
R7870:Mib1 UTSW 18 10,798,446 (GRCm39) missense possibly damaging 0.75
R7912:Mib1 UTSW 18 10,778,187 (GRCm39) missense probably damaging 1.00
R8127:Mib1 UTSW 18 10,741,031 (GRCm39) missense probably damaging 1.00
R8276:Mib1 UTSW 18 10,751,880 (GRCm39) missense possibly damaging 0.89
R8338:Mib1 UTSW 18 10,726,372 (GRCm39) missense probably benign 0.09
R8375:Mib1 UTSW 18 10,768,233 (GRCm39) critical splice donor site probably null
R8777:Mib1 UTSW 18 10,747,422 (GRCm39) missense probably benign 0.35
R8777-TAIL:Mib1 UTSW 18 10,747,422 (GRCm39) missense probably benign 0.35
R8811:Mib1 UTSW 18 10,755,643 (GRCm39) missense probably benign 0.00
R9057:Mib1 UTSW 18 10,795,728 (GRCm39) missense possibly damaging 0.90
R9117:Mib1 UTSW 18 10,793,023 (GRCm39) missense probably benign 0.00
R9170:Mib1 UTSW 18 10,726,437 (GRCm39) missense probably benign 0.02
R9252:Mib1 UTSW 18 10,800,088 (GRCm39) missense probably benign
R9256:Mib1 UTSW 18 10,760,862 (GRCm39) missense possibly damaging 0.80
R9323:Mib1 UTSW 18 10,775,685 (GRCm39) missense probably damaging 1.00
R9418:Mib1 UTSW 18 10,812,064 (GRCm39) missense probably damaging 1.00
R9581:Mib1 UTSW 18 10,775,701 (GRCm39) missense possibly damaging 0.61
R9701:Mib1 UTSW 18 10,798,494 (GRCm39) missense probably damaging 1.00
R9802:Mib1 UTSW 18 10,798,494 (GRCm39) missense probably damaging 1.00
Z1177:Mib1 UTSW 18 10,763,309 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGCCTGTGTGTACAAACATG -3'
(R):5'- AGTATTAGAGCGAGGCTGGC -3'

Sequencing Primer
(F):5'- GCCTGTGTGTACAAACATGATTTTC -3'
(R):5'- ACCTCCAAGTGTCTGATGATG -3'
Posted On 2016-06-06