Incidental Mutation 'R3752:Mib2'
ID 271252
Institutional Source Beutler Lab
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
MMRRC Submission 040737-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3752 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155739134-155753655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155739741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 810 (F810S)
Ref Sequence ENSEMBL: ENSMUSP00000099465 (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 damaging
Transcript: ENSMUST00000103176
AA Change: F810S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: F810S

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 noncoding transcript
Transcript: ENSMUST00000151843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156906
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
Meta Mutation Damage Score 0.2813 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,588,904 (GRCm39) I107N probably damaging Het
Adh1 G A 3: 137,994,555 (GRCm39) V292I probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep170 A G 1: 176,610,061 (GRCm39) probably benign Het
Col4a4 G A 1: 82,458,215 (GRCm39) P1120S probably damaging Het
Cramp1 A T 17: 25,190,532 (GRCm39) N1067K probably damaging Het
Dhrs7c A G 11: 67,702,281 (GRCm39) T90A probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Eml6 C A 11: 29,759,360 (GRCm39) V798F probably benign Het
Ext1 A T 15: 52,939,306 (GRCm39) V581E probably damaging Het
Fbf1 C T 11: 116,038,622 (GRCm39) R833Q probably benign Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Gm10521 A G 1: 171,723,712 (GRCm39) T8A unknown Het
Hapln4 A T 8: 70,539,615 (GRCm39) L215F probably damaging Het
Hmgcr T C 13: 96,799,624 (GRCm39) I157V probably damaging Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Lama3 T A 18: 12,640,086 (GRCm39) C1700S probably damaging Het
Lama5 C T 2: 179,829,015 (GRCm39) C2042Y probably damaging Het
Lrrc9 T G 12: 72,507,580 (GRCm39) Y360* probably null Het
Lrrd1 T A 5: 3,900,282 (GRCm39) S196T probably benign Het
Mdc1 C T 17: 36,156,821 (GRCm39) A76V probably damaging Het
Mei1 C T 15: 81,970,383 (GRCm39) T428M probably damaging Het
Nobox T G 6: 43,284,167 (GRCm39) K126N probably damaging Het
Ogn C T 13: 49,776,307 (GRCm39) L249F probably benign Het
Or10ag59 A G 2: 87,406,057 (GRCm39) I210V probably benign Het
Or6a2 A T 7: 106,600,682 (GRCm39) Y128* probably null Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Pcdhb15 T A 18: 37,606,810 (GRCm39) V14E probably damaging Het
Perm1 A T 4: 156,302,403 (GRCm39) I316L probably benign Het
Plxnb2 G A 15: 89,041,458 (GRCm39) probably benign Het
Rab3il1 A T 19: 10,007,841 (GRCm39) T227S probably benign Het
Rag2 A T 2: 101,461,121 (GRCm39) Y477F probably damaging Het
Ralgapa2 A T 2: 146,263,551 (GRCm39) V722E possibly damaging Het
Rbp3 A T 14: 33,677,969 (GRCm39) E639V probably damaging Het
Sh2b1 A G 7: 126,067,959 (GRCm39) V565A probably damaging Het
Skint6 T C 4: 112,700,096 (GRCm39) probably benign Het
Slc47a1 C T 11: 61,235,207 (GRCm39) R542Q possibly damaging Het
Slc6a5 T C 7: 49,586,062 (GRCm39) probably null Het
Slc9a8 C A 2: 167,299,272 (GRCm39) H215N probably benign Het
Slit1 C T 19: 41,635,406 (GRCm39) probably null Het
Snx1 A T 9: 66,012,933 (GRCm39) probably null Het
Tbc1d30 T A 10: 121,108,073 (GRCm39) N443I probably damaging Het
Tex15 T A 8: 34,061,443 (GRCm39) M565K probably benign Het
Traf3ip1 T C 1: 91,428,639 (GRCm39) probably benign Het
Traf3ip1 A G 1: 91,446,019 (GRCm39) D384G probably damaging Het
Vldlr G A 19: 27,215,731 (GRCm39) E243K probably damaging Het
Vps35 A G 8: 86,001,460 (GRCm39) S453P probably benign Het
Zfp644 A G 5: 106,784,249 (GRCm39) V766A 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTTGCTGATGACCACCTGG -3'
(R):5'- TTCAGGTGAGCCCATGATG -3'

Sequencing Primer
(F):5'- TGATGACCACCTGGCACCTG -3'
(R):5'- CAACCATTAAGGCCATTGGG -3'
Posted On 2015-03-18