Incidental Mutation 'IGL02147:Mib2'
ID 281829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02147
Quality Score
Status
Chromosome 4
Chromosomal Location 155739134-155753655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 155742144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 209 (R209L)
Ref Sequence ENSEMBL: ENSMUSP00000122269 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030937] [ENSMUST00000103176] [ENSMUST00000141108]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030937
SMART Domains Protein: ENSMUSP00000030937
Gene: ENSMUSG00000029061

DomainStartEndE-ValueType
low complexity region 19 41 N/A INTRINSIC
ZnMc 85 256 8.39e-48 SMART
ShKT 255 291 4.06e-10 SMART
IG 307 390 4.53e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103176
AA Change: R348L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: R348L

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 noncoding transcript
Transcript: ENSMUST00000128204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139134
Predicted Effect probably benign
Transcript: ENSMUST00000141108
AA Change: R209L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122269
Gene: ENSMUSG00000029060
AA Change: R209L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155189
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021P04Rik T C 19: 24,042,327 (GRCm39) noncoding transcript Het
Acadsb T A 7: 131,027,610 (GRCm39) probably benign Het
Ambra1 A G 2: 91,598,064 (GRCm39) H75R probably benign Het
Arhgef28 T A 13: 98,097,822 (GRCm39) I931F probably damaging Het
Cdk5 T C 5: 24,625,318 (GRCm39) N165D probably benign Het
Col4a2 A T 8: 11,458,140 (GRCm39) Y272F probably benign Het
Csde1 T A 3: 102,947,250 (GRCm39) D67E probably damaging Het
Dhx34 T C 7: 15,937,928 (GRCm39) H724R probably benign Het
Dhx57 T C 17: 80,567,752 (GRCm39) D777G possibly damaging Het
Fat3 A C 9: 15,907,281 (GRCm39) V2907G probably damaging Het
Fst T C 13: 114,590,896 (GRCm39) Y290C probably damaging Het
Ighg2b A T 12: 113,270,011 (GRCm39) *336R probably null Het
Igkv4-92 C T 6: 68,732,236 (GRCm39) S46N probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lgalsl2 T A 7: 5,362,732 (GRCm39) I121N probably damaging Het
Lmtk2 A G 5: 144,093,754 (GRCm39) M244V possibly damaging Het
Mcoln1 T C 8: 3,558,379 (GRCm39) F211S probably benign Het
Msx3 C A 7: 139,628,798 (GRCm39) V39L possibly damaging Het
Mtnr1b A G 9: 15,774,672 (GRCm39) F129S probably damaging Het
Nr3c2 A G 8: 77,635,696 (GRCm39) S266G probably damaging Het
Nup160 G T 2: 90,534,285 (GRCm39) L703F probably benign Het
Or10c1 T A 17: 37,521,877 (GRCm39) Y289F probably damaging Het
Or5t5 A G 2: 86,616,494 (GRCm39) N140S probably benign Het
Pcyt1a T A 16: 32,280,916 (GRCm39) N105K probably damaging Het
Pdhx A G 2: 102,860,686 (GRCm39) probably benign Het
Qpct T C 17: 79,378,145 (GRCm39) V105A probably damaging Het
Ros1 A C 10: 51,996,991 (GRCm39) F1227C probably damaging Het
Rrp12 A T 19: 41,874,620 (GRCm39) V342E probably damaging Het
Sart3 A G 5: 113,901,004 (GRCm39) probably benign Het
Slc6a18 T A 13: 73,816,281 (GRCm39) K366M probably damaging Het
Smarca4 A G 9: 21,546,999 (GRCm39) N175D probably damaging Het
Sox14 T C 9: 99,757,598 (GRCm39) K47R probably damaging Het
Trcg1 A T 9: 57,153,132 (GRCm39) I592F probably benign Het
Ush2a T C 1: 188,596,900 (GRCm39) M3880T probably benign Het
Usp20 T C 2: 30,896,413 (GRCm39) F172S probably damaging Het
Vmn2r4 C T 3: 64,305,782 (GRCm39) probably benign 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
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
R9640:Mib2 UTSW 4 155,745,325 (GRCm39) missense possibly damaging 0.77
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
Posted On 2015-04-16