Incidental Mutation 'R9640:Mib2'
ID 725908
Institutional Source Beutler Lab
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9640 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 155739134-155753655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155745325 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 134 (E134G)
Ref Sequence ENSEMBL: ENSMUSP00000099465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103176] [ENSMUST00000141108]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000103176
AA Change: E134G

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: E134G

DomainStartEndE-ValueType
Pfam:MIB_HERC2 12 78 3.4e-26 PFAM
ZnF_ZZ 85 130 6.44e-9 SMART
Pfam:MIB_HERC2 160 225 4.2e-26 PFAM
Blast:ANK 285 320 2e-13 BLAST
ANK 428 457 8.52e-4 SMART
ANK 461 490 6.71e-2 SMART
ANK 494 523 9.93e-5 SMART
ANK 527 559 1.1e2 SMART
ANK 563 593 9.21e0 SMART
ANK 597 627 3.57e-6 SMART
ANK 631 660 3.31e-1 SMART
ANK 664 709 1.73e3 SMART
Blast:ANK 733 762 9e-10 BLAST
low complexity region 763 772 N/A INTRINSIC
RING 798 832 2.55e-1 SMART
RING 877 909 1.81e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141108
SMART Domains Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060

DomainStartEndE-ValueType
Pfam:MIB_HERC2 1 52 7.1e-17 PFAM
internal_repeat_1 82 150 7.77e-12 PROSPERO
internal_repeat_1 153 220 7.77e-12 PROSPERO
ANK 289 318 8.52e-4 SMART
ANK 322 351 6.71e-2 SMART
Pfam:Ank 356 375 2.9e-4 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display exencephaly with a variable penetrance that depends on the genetic background. Mice homozygous for a reporter/null allele are viable, fertile and show normal growth, body weight and brain morphology. [provided by MGI curators]
Allele List at MGI

All alleles(16) : Targeted(5) Gene trapped(11)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T C 16: 14,436,589 (GRCm39) V214A Het
A830018L16Rik A G 1: 12,021,200 (GRCm39) K403R probably damaging Het
Aadacl4fm4 T A 4: 144,412,809 (GRCm39) R44W possibly damaging Het
Abhd17c A T 7: 83,800,814 (GRCm39) L80Q probably damaging Het
Adam30 T A 3: 98,069,620 (GRCm39) D484E probably damaging Het
Aspm T A 1: 139,408,010 (GRCm39) V2299E possibly damaging Het
Atp6v1c1 C T 15: 38,689,381 (GRCm39) R281W probably damaging Het
Bclaf1 T C 10: 20,201,553 (GRCm39) probably null Het
Ccdc50 T C 16: 27,225,461 (GRCm39) V58A probably damaging Het
Cep162 A G 9: 87,126,352 (GRCm39) S187P probably benign Het
Clip4 C T 17: 72,163,264 (GRCm39) T612M possibly damaging Het
Corin C T 5: 72,592,597 (GRCm39) V267I probably benign Het
Cyp2c37 T A 19: 40,000,180 (GRCm39) I434K probably benign Het
Ddx43 T G 9: 78,303,389 (GRCm39) D76E probably benign Het
Dusp5 A G 19: 53,526,051 (GRCm39) E231G probably damaging Het
Fam114a1 G A 5: 65,166,394 (GRCm39) V242I probably damaging Het
Frem1 T A 4: 82,831,896 (GRCm39) R1973S probably benign Het
Gas2l3 A T 10: 89,266,774 (GRCm39) D55E probably damaging Het
Grwd1 T C 7: 45,477,303 (GRCm39) I195V probably benign Het
H2-M1 G T 17: 36,983,031 (GRCm39) T20K probably benign Het
H2-Q2 T G 17: 35,562,206 (GRCm39) L151R probably damaging Het
Hbegf T C 18: 36,640,643 (GRCm39) Y138C probably damaging Het
Hectd1 C A 12: 51,795,197 (GRCm39) E2411* probably null Het
Igkv11-125 T A 6: 67,890,783 (GRCm39) S34T possibly damaging Het
Jam2 A T 16: 84,609,960 (GRCm39) T191S probably benign Het
Kcnh8 T C 17: 53,185,089 (GRCm39) I457T probably damaging Het
Khk A G 5: 31,079,303 (GRCm39) D15G probably damaging Het
Lrba T A 3: 86,526,875 (GRCm39) Y2244* probably null Het
Lrp1b T C 2: 41,078,929 (GRCm39) N1841S Het
Lrp4 A G 2: 91,316,296 (GRCm39) T805A probably benign Het
Lrp6 C T 6: 134,441,414 (GRCm39) R1184Q probably damaging Het
Map3k1 A T 13: 111,900,699 (GRCm39) L442* probably null Het
Mapk8ip3 T C 17: 25,155,647 (GRCm39) N61S possibly damaging Het
Matcap2 A T 9: 22,351,228 (GRCm39) I457L possibly damaging Het
Mdn1 T A 4: 32,754,539 (GRCm39) V4685E probably damaging Het
Mtss2 T C 8: 111,464,575 (GRCm39) V403A probably benign Het
Ndst4 C A 3: 125,232,196 (GRCm39) T255K probably damaging Het
Or1i2 G C 10: 78,448,311 (GRCm39) L55V probably damaging Het
Or2l13 A T 16: 19,305,761 (GRCm39) M58L probably damaging Het
Or5ae2 G A 7: 84,506,114 (GRCm39) C181Y probably damaging Het
Or8g20 A G 9: 39,396,396 (GRCm39) L51P probably damaging Het
Pak1 T A 7: 97,515,355 (GRCm39) D126E probably benign Het
Rgl1 T C 1: 152,397,142 (GRCm39) T675A probably damaging Het
Rgs1 T C 1: 144,121,116 (GRCm39) D185G probably damaging Het
Rnase2a G A 14: 51,493,117 (GRCm39) R83C probably damaging Het
Sfmbt2 A G 2: 10,583,994 (GRCm39) T784A probably damaging Het
Slc6a21 A T 7: 44,937,189 (GRCm39) T272S Het
Sorcs2 G T 5: 36,222,765 (GRCm39) S330* probably null Het
Spdef G T 17: 27,936,183 (GRCm39) H253Q Het
Tas2r144 A G 6: 42,192,428 (GRCm39) E56G probably benign Het
Trim66 A G 7: 109,074,825 (GRCm39) C479R probably damaging Het
Ttc36 A T 9: 44,714,034 (GRCm39) L28Q probably benign Het
Ugt1a5 T C 1: 88,094,098 (GRCm39) S109P possibly damaging Het
Vamp5 G A 6: 72,347,276 (GRCm39) probably benign Het
Wwox A G 8: 115,166,540 (GRCm39) D10G possibly damaging Het
Zfp40 T C 17: 23,394,493 (GRCm39) Y698C probably damaging Het
Zfp62 A G 11: 49,106,458 (GRCm39) D183G probably benign Het
Zfp932 T C 5: 110,157,064 (GRCm39) V254A probably benign Het
Zfp943 T A 17: 22,209,899 (GRCm39) L57H probably damaging Het
Other mutations in Mib2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Mib2 APN 4 155,742,187 (GRCm39) missense probably damaging 1.00
IGL01404:Mib2 APN 4 155,739,393 (GRCm39) missense probably damaging 1.00
IGL01819:Mib2 APN 4 155,739,715 (GRCm39) splice site probably null
IGL02147:Mib2 APN 4 155,742,144 (GRCm39) missense probably benign
IGL02260:Mib2 APN 4 155,745,628 (GRCm39) missense probably damaging 1.00
IGL02472:Mib2 APN 4 155,741,203 (GRCm39) missense probably damaging 1.00
IGL02632:Mib2 APN 4 155,740,036 (GRCm39) missense probably damaging 0.98
IGL03051:Mib2 APN 4 155,741,747 (GRCm39) missense probably damaging 1.00
IGL03077:Mib2 APN 4 155,743,900 (GRCm39) missense probably benign 0.01
R0042:Mib2 UTSW 4 155,743,897 (GRCm39) nonsense probably null
R0042:Mib2 UTSW 4 155,743,897 (GRCm39) nonsense probably null
R0115:Mib2 UTSW 4 155,740,519 (GRCm39) unclassified probably benign
R0193:Mib2 UTSW 4 155,740,130 (GRCm39) missense probably benign
R0279:Mib2 UTSW 4 155,745,673 (GRCm39) missense possibly damaging 0.89
R0373:Mib2 UTSW 4 155,740,745 (GRCm39) missense probably damaging 1.00
R0481:Mib2 UTSW 4 155,740,519 (GRCm39) unclassified probably benign
R0563:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0564:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0625:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0714:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0740:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0942:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R0987:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R1023:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R1033:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R1037:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R1460:Mib2 UTSW 4 155,743,917 (GRCm39) missense probably damaging 1.00
R1481:Mib2 UTSW 4 155,741,456 (GRCm39) missense probably benign 0.01
R1712:Mib2 UTSW 4 155,739,256 (GRCm39) missense probably damaging 1.00
R2015:Mib2 UTSW 4 155,742,337 (GRCm39) missense probably damaging 1.00
R2072:Mib2 UTSW 4 155,744,158 (GRCm39) missense probably damaging 0.99
R2131:Mib2 UTSW 4 155,739,695 (GRCm39) splice site probably null
R2187:Mib2 UTSW 4 155,739,390 (GRCm39) missense possibly damaging 0.95
R3751:Mib2 UTSW 4 155,739,741 (GRCm39) missense probably damaging 1.00
R3752:Mib2 UTSW 4 155,739,741 (GRCm39) missense probably damaging 1.00
R3753:Mib2 UTSW 4 155,739,741 (GRCm39) missense probably damaging 1.00
R4381:Mib2 UTSW 4 155,742,069 (GRCm39) missense possibly damaging 0.55
R4584:Mib2 UTSW 4 155,741,744 (GRCm39) missense probably damaging 1.00
R4669:Mib2 UTSW 4 155,741,872 (GRCm39) missense possibly damaging 0.49
R4754:Mib2 UTSW 4 155,739,822 (GRCm39) missense possibly damaging 0.90
R4782:Mib2 UTSW 4 155,744,229 (GRCm39) missense probably benign 0.00
R4799:Mib2 UTSW 4 155,744,229 (GRCm39) missense probably benign 0.00
R5036:Mib2 UTSW 4 155,740,745 (GRCm39) missense probably damaging 1.00
R5073:Mib2 UTSW 4 155,741,233 (GRCm39) missense probably damaging 1.00
R5915:Mib2 UTSW 4 155,740,508 (GRCm39) unclassified probably benign
R6695:Mib2 UTSW 4 155,745,629 (GRCm39) missense probably damaging 1.00
R7039:Mib2 UTSW 4 155,744,158 (GRCm39) missense probably damaging 0.99
R7234:Mib2 UTSW 4 155,742,350 (GRCm39) missense probably damaging 1.00
R7582:Mib2 UTSW 4 155,739,267 (GRCm39) missense probably benign
R8133:Mib2 UTSW 4 155,741,458 (GRCm39) missense probably benign 0.00
R8704:Mib2 UTSW 4 155,743,620 (GRCm39) missense possibly damaging 0.93
R8904:Mib2 UTSW 4 155,744,173 (GRCm39) missense probably damaging 0.99
R8987:Mib2 UTSW 4 155,745,351 (GRCm39) missense probably benign 0.01
R8988:Mib2 UTSW 4 155,740,729 (GRCm39) missense possibly damaging 0.47
R9336:Mib2 UTSW 4 155,743,394 (GRCm39) missense probably benign
R9537:Mib2 UTSW 4 155,741,952 (GRCm39) missense probably damaging 1.00
X0012:Mib2 UTSW 4 155,739,852 (GRCm39) splice site probably null
Z1176:Mib2 UTSW 4 155,745,598 (GRCm39) missense probably benign 0.06
Z1177:Mib2 UTSW 4 155,739,978 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ATGACAGAGGAAGTCCCATCC -3'
(R):5'- ATCCTGCACCTAGGTATCCG -3'

Sequencing Primer
(F):5'- GTAACAGTCTCAGGGCTCTAGATAAC -3'
(R):5'- GCCACCCCAATATCATCTGTG -3'
Posted On 2022-09-12