Incidental Mutation 'R8375:Mib1'
ID 646652
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 067743-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8375 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 10725548-10818704 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 10768233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000054428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052838] [ENSMUST00000165555]
AlphaFold Q80SY4
Predicted Effect probably null
Transcript: ENSMUST00000052838
SMART Domains Protein: ENSMUSP00000054428
Gene: ENSMUSG00000024294

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 probably null
Transcript: ENSMUST00000124288
SMART Domains Protein: ENSMUSP00000114289
Gene: ENSMUSG00000024294

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 null
Transcript: ENSMUST00000165555
SMART Domains Protein: ENSMUSP00000131712
Gene: ENSMUSG00000024294

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,265,416 (GRCm39) F3030L probably benign Het
Abca13 A T 11: 9,347,841 (GRCm39) I3565F probably damaging Het
Ak7 A T 12: 105,708,600 (GRCm39) I352F probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Anapc7 C T 5: 122,566,342 (GRCm39) P84S probably benign Het
Apol7a A T 15: 77,273,547 (GRCm39) I305N probably damaging Het
Asf1b C T 8: 84,694,559 (GRCm39) R108C probably damaging Het
Bicd1 A T 6: 149,421,989 (GRCm39) E903D probably benign Het
Bpifb3 A T 2: 153,767,715 (GRCm39) I263F probably benign Het
Cavin3 T A 7: 105,130,228 (GRCm39) S195C probably damaging Het
Chsy3 C A 18: 59,312,585 (GRCm39) R353S probably damaging Het
Col5a2 A G 1: 45,481,890 (GRCm39) V78A unknown Het
Cpxm1 C T 2: 130,236,146 (GRCm39) E339K probably damaging Het
Cyp26c1 G T 19: 37,675,660 (GRCm39) A175S probably benign Het
Dnah5 A T 15: 28,327,489 (GRCm39) T2069S probably benign Het
Ednrb A G 14: 104,057,383 (GRCm39) F393S probably damaging Het
Fstl4 T C 11: 53,053,502 (GRCm39) S385P possibly damaging Het
Gabpb2 G A 3: 95,112,109 (GRCm39) S40L probably damaging Het
Gabrb1 T C 5: 72,187,172 (GRCm39) I155T probably damaging Het
Hc T A 2: 34,873,731 (GRCm39) N1668Y probably benign Het
Kcnh1 A G 1: 192,117,124 (GRCm39) H670R probably damaging Het
Krt31 G A 11: 99,938,603 (GRCm39) A330V probably benign Het
Lrfn2 T A 17: 49,403,851 (GRCm39) M658K possibly damaging Het
Lrrc1 T A 9: 77,365,129 (GRCm39) N184I probably damaging Het
Lrrc69 T C 4: 14,795,994 (GRCm39) I18V probably benign Het
Lvrn G A 18: 46,983,289 (GRCm39) V11M probably damaging Het
Map4k4 T C 1: 40,063,801 (GRCm39) S1199P possibly damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Myo18b C T 5: 112,908,259 (GRCm39) V2005I possibly damaging Het
Myo6 T A 9: 80,162,206 (GRCm39) H314Q unknown Het
Nat8f6 A C 6: 85,785,888 (GRCm39) M87R probably benign Het
Net1 A G 13: 3,943,458 (GRCm39) probably benign Het
Notch4 C T 17: 34,787,228 (GRCm39) T294I possibly damaging Het
Nrros A G 16: 31,966,456 (GRCm39) L36P probably damaging Het
Or8b12i T C 9: 20,082,037 (GRCm39) M277V probably benign Het
Or8c9 G C 9: 38,241,231 (GRCm39) W113S probably benign Het
Padi3 T C 4: 140,525,407 (GRCm39) H202R probably damaging Het
Pik3ap1 A T 19: 41,316,538 (GRCm39) M284K probably damaging Het
Prr27 C A 5: 87,990,710 (GRCm39) Y107* probably null Het
Rab5c G T 11: 100,607,609 (GRCm39) N188K probably damaging Het
Rlf A T 4: 121,005,532 (GRCm39) S1259R probably damaging Het
Rrm2 T C 12: 24,762,751 (GRCm39) V298A probably damaging Het
Rtn4rl2 A T 2: 84,711,033 (GRCm39) L77H possibly damaging Het
Skint4 A G 4: 111,975,173 (GRCm39) I44M probably damaging Het
Spaca7 T C 8: 12,648,998 (GRCm39) I164T probably benign Het
Spg7 A G 8: 123,800,568 (GRCm39) S153G probably damaging Het
Spink5 T C 18: 44,123,786 (GRCm39) S358P probably benign Het
Stx5a T C 19: 8,732,462 (GRCm39) M377T unknown Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Ttc41 A G 10: 86,599,844 (GRCm39) D1048G probably damaging Het
Ttn A T 2: 76,557,509 (GRCm39) W29862R probably damaging Het
Vmn1r203 T G 13: 22,709,154 (GRCm39) *312G probably null Het
Vmn2r74 T G 7: 85,601,914 (GRCm39) T575P possibly damaging Het
Zfp14 A T 7: 29,738,579 (GRCm39) N135K possibly damaging 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
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
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'- AAGAACTACGGCTTTTGTCTCTCG -3'
(R):5'- ACAGAAGGAGGCTACGTCTG -3'

Sequencing Primer
(F):5'- GTAAACGGACAGTGTGCT -3'
(R):5'- GCTACGTCTGAAATATTGAGGAGTC -3'
Posted On 2020-09-02