Incidental Mutation 'R7912:Mib1'
ID 610634
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7912 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 10725548-10818704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 10778187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 572 (S572R)
Ref Sequence ENSEMBL: ENSMUSP00000054428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052838] [ENSMUST00000165555]
AlphaFold Q80SY4
Predicted Effect probably damaging
Transcript: ENSMUST00000052838
AA Change: S572R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054428
Gene: ENSMUSG00000024294
AA Change: S572R

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
SMART Domains Protein: ENSMUSP00000114289
Gene: ENSMUSG00000024294
AA Change: S206R

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: S572R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131712
Gene: ENSMUSG00000024294
AA Change: S572R

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,120,451 (GRCm39) T403A probably benign Het
Aco1 T C 4: 40,184,983 (GRCm39) L551S probably damaging Het
Acvr1 C T 2: 58,364,230 (GRCm39) V200I probably damaging Het
Adam26b T A 8: 43,973,245 (GRCm39) T586S probably benign Het
Ahctf1 T C 1: 179,580,656 (GRCm39) R1849G probably benign Het
Alox5 T A 6: 116,389,497 (GRCm39) D590V probably benign Het
Anapc5 A G 5: 122,931,498 (GRCm39) probably null Het
Anln T C 9: 22,269,965 (GRCm39) E743G possibly damaging Het
Anpep T C 7: 79,488,174 (GRCm39) K496R probably benign Het
Aox3 T A 1: 58,181,855 (GRCm39) S281T probably benign Het
Arhgef11 C A 3: 87,640,529 (GRCm39) P1258T probably damaging Het
Atp2c2 A T 8: 120,456,917 (GRCm39) D173V possibly damaging Het
Aurka T G 2: 172,210,949 (GRCm39) D22A probably benign Het
B3gat1 A T 9: 26,666,882 (GRCm39) D51V probably benign Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 TGGTTCTGTGGTCAC TGGTTCTGTGGTCACGGGTTCTGTGGTCAC 3: 95,795,483 (GRCm39) probably benign Het
BC028528 ACTGGTTCTGTGGTCACTGGTTCTGTGGTC ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC 3: 95,795,466 (GRCm39) probably benign Het
BC028528 TTC TTCGGTGGTCACTGGCTC 3: 95,795,456 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT 3: 95,795,454 (GRCm39) probably benign Het
BC028528 CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA 3: 95,795,452 (GRCm39) probably benign Het
BC028528 CACTG CACTGATTCTGTGGTGACTG 3: 95,795,450 (GRCm39) probably benign Het
Bcas3 G A 11: 85,261,954 (GRCm39) G96S probably damaging Het
Bltp1 C T 3: 37,061,218 (GRCm39) A3309V probably damaging Het
C2cd4d T A 3: 94,270,860 (GRCm39) V42D probably damaging Het
Ccdc127 T C 13: 74,505,151 (GRCm39) L233P probably damaging Het
Cdc42bpa A G 1: 179,921,578 (GRCm39) K573E probably damaging Het
Cend1 T C 7: 141,007,544 (GRCm39) D92G probably damaging Het
Crb1 T C 1: 139,170,909 (GRCm39) D827G probably damaging Het
Cyld G T 8: 89,461,525 (GRCm39) C654F probably damaging Het
Fastkd5 C T 2: 130,458,557 (GRCm39) G11D probably damaging Het
Foxj3 A T 4: 119,477,252 (GRCm39) N354I possibly damaging Het
Gimap8 G T 6: 48,627,999 (GRCm39) C252F probably benign Het
Glra1 T C 11: 55,411,821 (GRCm39) Y329C probably damaging Het
Gm10330 G A 12: 23,829,980 (GRCm39) P67L probably benign Het
Gpm6a T C 8: 55,508,469 (GRCm39) I226T possibly damaging Het
Gstt2 A G 10: 75,668,418 (GRCm39) F121S probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,310,311 (GRCm39) F3302L probably benign Het
Hormad2 T C 11: 4,358,841 (GRCm39) T189A probably damaging Het
Hps5 A T 7: 46,418,826 (GRCm39) S815T probably benign Het
Hydin G T 8: 111,282,239 (GRCm39) R3113L possibly damaging Het
Inava A G 1: 136,155,279 (GRCm39) S109P probably benign Het
Inpp5f T A 7: 128,294,037 (GRCm39) C698S probably benign Het
Irs1 T G 1: 82,267,605 (GRCm39) M204L probably benign Het
Itfg1 T C 8: 86,490,909 (GRCm39) D340G probably damaging Het
Itm2c T A 1: 85,833,032 (GRCm39) I122N probably damaging Het
Lamp3 T A 16: 19,474,247 (GRCm39) T376S probably damaging Het
Lrba T A 3: 86,622,872 (GRCm39) I2418N probably damaging Het
Lrcol1 T A 5: 110,502,715 (GRCm39) V161D probably damaging Het
Lrp2 T A 2: 69,259,016 (GRCm39) Q4558L probably benign Het
Lrrfip2 A T 9: 111,034,836 (GRCm39) Q175L probably damaging Het
Mis18bp1 A T 12: 65,199,532 (GRCm39) D456E possibly damaging Het
Mlh1 T A 9: 111,090,581 (GRCm39) T116S possibly damaging Het
Mpp4 T C 1: 59,160,521 (GRCm39) N594S probably damaging Het
Nbas A G 12: 13,455,458 (GRCm39) E1224G possibly damaging Het
Neb T C 2: 52,110,997 (GRCm39) D163G possibly damaging Het
Nectin4 T C 1: 171,207,941 (GRCm39) V111A possibly damaging Het
Nfatc2ip G A 7: 125,989,617 (GRCm39) R256* probably null Het
Nlgn2 G A 11: 69,716,760 (GRCm39) R594C probably damaging Het
Nufip1 A G 14: 76,352,442 (GRCm39) S198G possibly damaging Het
Or2n1 T C 17: 38,486,158 (GRCm39) F61S probably damaging Het
Or5ac23 C T 16: 59,149,606 (GRCm39) D89N possibly damaging Het
Or8b49 T C 9: 38,506,446 (GRCm39) F310L probably benign Het
Or8s8 C T 15: 98,354,574 (GRCm39) H128Y probably benign Het
Pcdhga8 G A 18: 37,859,896 (GRCm39) M317I probably benign Het
Phactr1 A T 13: 42,863,239 (GRCm39) I55L probably benign Het
Prl3c1 G A 13: 27,383,367 (GRCm39) R31Q probably benign Het
Prss55 A T 14: 64,319,180 (GRCm39) F59Y possibly damaging Het
Ptprb T C 10: 116,158,392 (GRCm39) W488R probably damaging Het
Qrich2 GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC 11: 116,346,608 (GRCm39) probably benign Het
Ros1 G T 10: 52,044,791 (GRCm39) T172K probably damaging Het
Rtel1 C T 2: 180,997,869 (GRCm39) R1206W possibly damaging Het
Slf2 A T 19: 44,930,682 (GRCm39) K586N probably damaging Het
Smc2 T A 4: 52,450,854 (GRCm39) M224K probably benign Het
Spata31d1e A T 13: 59,890,329 (GRCm39) I497K probably damaging Het
Spinkl T C 18: 44,299,716 (GRCm39) Y83C probably damaging Het
Srgap1 CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC 10: 121,689,458 (GRCm39) probably benign Het
St13 T C 15: 81,283,719 (GRCm39) E26G possibly damaging Het
Teddm3 T A 16: 20,971,699 (GRCm39) Q290L probably benign Het
Tfec C A 6: 16,840,467 (GRCm39) probably null Het
Trank1 C A 9: 111,220,596 (GRCm39) D2444E probably benign Het
Ttc17 T A 2: 94,209,166 (GRCm39) N96I probably damaging Het
Ttn T C 2: 76,560,130 (GRCm39) T29424A possibly damaging Het
Tut7 C A 13: 59,946,819 (GRCm39) Q1003H probably damaging Het
Vmn1r68 G A 7: 10,261,237 (GRCm39) T287I probably benign Het
Vmn2r52 C A 7: 9,896,877 (GRCm39) V532L probably benign Het
Vmn2r92 A T 17: 18,404,970 (GRCm39) T705S possibly damaging Het
Vps13d T C 4: 144,899,697 (GRCm39) D200G Het
Wdr48 G A 9: 119,733,405 (GRCm39) C84Y probably damaging Het
Zscan25 T A 5: 145,227,321 (GRCm39) H328Q 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
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
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'- GGAGTACGATTGCTGACTGAC -3'
(R):5'- GGAGCAACATGTACCTAATGAATG -3'

Sequencing Primer
(F):5'- ACTGACAGCTGTCGCTTG -3'
(R):5'- GGCATTCAGGAAAATGACTACC -3'
Posted On 2019-12-20