Incidental Mutation 'R2372:Mib1'
ID 248183
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 040352-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2372 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 10725548-10818704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10812045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 981 (T981A)
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: T981A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054428
Gene: ENSMUSG00000024294
AA Change: T981A

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: T615A
SMART Domains Protein: ENSMUSP00000114289
Gene: ENSMUSG00000024294
AA Change: T615A

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 unknown
Transcript: ENSMUST00000150000
AA Change: T239A
SMART Domains Protein: ENSMUSP00000122879
Gene: ENSMUSG00000024294
AA Change: T239A

DomainStartEndE-ValueType
Blast:ANK 2 27 5e-6 BLAST
RING 78 112 1.8e-1 SMART
RING 125 159 1.9e-1 SMART
RING 222 254 4.58e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165555
AA Change: T981A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131712
Gene: ENSMUSG00000024294
AA Change: T981A

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
Meta Mutation Damage Score 0.1171 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,009,704 (GRCm39) L135S probably damaging Het
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alpi G T 1: 87,028,316 (GRCm39) T169N probably damaging Het
Ccdc15 T C 9: 37,226,801 (GRCm39) D378G possibly damaging Het
Cpb2 T G 14: 75,505,490 (GRCm39) V162G probably damaging Het
Dnmbp T C 19: 43,890,759 (GRCm39) E336G probably benign Het
Dok6 G C 18: 89,432,988 (GRCm39) R274G probably null Het
Eef1d G A 15: 75,768,166 (GRCm39) R199C probably damaging Het
Epha8 T C 4: 136,660,321 (GRCm39) Y714C probably damaging Het
Fyb1 T C 15: 6,681,388 (GRCm39) probably benign Het
Gfpt2 A G 11: 49,698,542 (GRCm39) N46D probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm11596 C A 11: 99,684,082 (GRCm39) E13* probably null Het
Gsx2 T C 5: 75,237,713 (GRCm39) F222L probably damaging Het
Hpca T A 4: 129,012,237 (GRCm39) K100* probably null Het
Iqsec1 A G 6: 90,671,636 (GRCm39) S89P probably damaging Het
Kif12 T A 4: 63,086,796 (GRCm39) T347S possibly damaging Het
Knop1 A G 7: 118,452,440 (GRCm39) L93S probably damaging Het
N4bp2l1 C T 5: 150,496,246 (GRCm39) E123K probably damaging Het
Npr2 C T 4: 43,650,432 (GRCm39) R976W probably damaging Het
Rbpj T C 5: 53,799,537 (GRCm39) probably benign Het
Ro60 C A 1: 143,646,620 (GRCm39) E42* probably null Het
Ruvbl1 T C 6: 88,462,779 (GRCm39) V301A possibly damaging Het
Sgip1 T C 4: 102,766,988 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,716,840 (GRCm39) I361T probably benign Het
Skint1 T A 4: 111,876,348 (GRCm39) Y90N probably damaging Het
Slc25a45 G A 19: 5,934,580 (GRCm39) V183I probably benign Het
Slco4c1 T A 1: 96,748,925 (GRCm39) H664L probably benign Het
Sult2a4 T A 7: 13,649,225 (GRCm39) I194L probably benign Het
Tecta C A 9: 42,299,570 (GRCm39) D173Y probably damaging Het
Tnrc18 T A 5: 142,745,459 (GRCm39) probably benign Het
Use1 T C 8: 71,821,823 (GRCm39) L169P possibly damaging Het
Zfp335 A G 2: 164,736,959 (GRCm39) L918P probably damaging Het
Zfp451 A T 1: 33,819,133 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- TCTGAAAAGCAATAGATTGTTTGACT -3'
(R):5'- AAGGATTTTCCCCTTCAAAGCCAA -3'

Sequencing Primer
(F):5'- GCCTTGTCATGTTACACG -3'
(R):5'- CACGGGCAAGTTCAAACACTGTATG -3'
Posted On 2014-11-11