Incidental Mutation 'IGL02701:Mib1'
ID 304140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mib1
Ensembl Gene ENSMUSG00000024294
Gene Name MIB E3 ubiquitin protein ligase 1
Synonyms skeletrophin, mindbomb, Mib, mind bomb-1, E430019M12Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02701
Quality Score
Status
Chromosome 18
Chromosomal Location 10725548-10818704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10747357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 178 (V178A)
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: V178A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054428
Gene: ENSMUSG00000024294
AA Change: V178A

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 noncoding transcript
Transcript: ENSMUST00000131073
Predicted Effect probably damaging
Transcript: ENSMUST00000165555
AA Change: V178A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131712
Gene: ENSMUSG00000024294
AA Change: V178A

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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A G 2: 20,896,902 (GRCm39) C125R probably damaging Het
Blmh A G 11: 76,862,736 (GRCm39) D383G probably benign Het
Brca1 T C 11: 101,416,061 (GRCm39) E691G probably damaging Het
Chrm3 G A 13: 9,928,500 (GRCm39) R179* probably null Het
Cnrip1 A G 11: 17,028,415 (GRCm39) T116A probably benign Het
Csmd2 T C 4: 128,389,934 (GRCm39) V2223A probably benign Het
Dalrd3 T A 9: 108,449,483 (GRCm39) V143D possibly damaging Het
Ddx60 A T 8: 62,432,375 (GRCm39) I886L probably damaging Het
Dennd4a T C 9: 64,804,635 (GRCm39) F1325L possibly damaging Het
Dnmt3l A T 10: 77,890,856 (GRCm39) T253S probably benign Het
Fads2b A G 2: 85,314,513 (GRCm39) L480P probably damaging Het
Ftdc1 G A 16: 58,436,170 (GRCm39) S51L probably benign Het
Gde1 T A 7: 118,297,860 (GRCm39) T9S probably damaging Het
Ggcx T A 6: 72,395,455 (GRCm39) probably benign Het
Hspg2 C T 4: 137,284,485 (GRCm39) A3481V probably damaging Het
Igf1r T C 7: 67,850,997 (GRCm39) Y931H possibly damaging Het
Ighv12-3 A C 12: 114,330,421 (GRCm39) S25A probably damaging Het
Itga5 A C 15: 103,256,193 (GRCm39) C920G probably damaging Het
Kmt5b A G 19: 3,846,681 (GRCm39) D118G probably benign Het
Lrp1b T G 2: 41,136,029 (GRCm39) N1647T possibly damaging Het
Lrrc71 T C 3: 87,649,079 (GRCm39) E363G probably benign Het
Mapk1 A G 16: 16,833,770 (GRCm39) Y41C probably benign Het
Or13c7d A G 4: 43,770,366 (GRCm39) I215T probably benign Het
Or5m10b A G 2: 85,699,802 (GRCm39) I289V probably benign Het
Or5p52 A T 7: 107,502,649 (GRCm39) T242S probably benign Het
Plb1 T C 5: 32,521,541 (GRCm39) V1464A unknown Het
Plekhg5 T C 4: 152,187,479 (GRCm39) S82P probably damaging Het
Plxna4 T C 6: 32,494,494 (GRCm39) T41A probably benign Het
Ppip5k1 A C 2: 121,147,130 (GRCm39) probably null Het
Pttg1ip2 A G 5: 5,516,623 (GRCm39) probably null Het
Rpl14 T C 9: 120,402,639 (GRCm39) probably benign Het
Slc44a2 T C 9: 21,259,247 (GRCm39) F554L probably benign Het
Slco1b2 T A 6: 141,631,271 (GRCm39) V635E probably benign Het
Sv2a T A 3: 96,094,447 (GRCm39) C261S probably damaging Het
Thbs2 T C 17: 14,903,623 (GRCm39) I353V probably benign Het
Tspan4 G A 7: 141,071,941 (GRCm39) V205M probably damaging Het
Vezf1 A T 11: 87,967,047 (GRCm39) R93* probably null Het
Wwox T A 8: 115,433,108 (GRCm39) V258D probably damaging Het
Zmynd12 G T 4: 119,301,952 (GRCm39) probably benign 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
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
R5070: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
Posted On 2015-04-16