Incidental Mutation 'R7582:Mib2'
ID 586785
Institutional Source Beutler Lab
Gene Symbol Mib2
Ensembl Gene ENSMUSG00000029060
Gene Name mindbomb E3 ubiquitin protein ligase 2
Synonyms Zzank1, 2210008I11Rik
MMRRC Submission 045665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7582 (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 155739267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 904 (N904S)
Ref Sequence ENSEMBL: ENSMUSP00000099465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030937] [ENSMUST00000067081] [ENSMUST00000103176] [ENSMUST00000105598] [ENSMUST00000105600] [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: ENSMUST00000067081
SMART Domains Protein: ENSMUSP00000070527
Gene: ENSMUSG00000029062

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
low complexity region 93 112 N/A INTRINSIC
coiled coil region 123 214 N/A INTRINSIC
low complexity region 252 259 N/A INTRINSIC
low complexity region 261 272 N/A INTRINSIC
coiled coil region 290 337 N/A INTRINSIC
low complexity region 369 383 N/A INTRINSIC
S_TKc 427 712 5.05e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103176
AA Change: N904S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099465
Gene: ENSMUSG00000029060
AA Change: N904S

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: ENSMUST00000105598
SMART Domains Protein: ENSMUSP00000101223
Gene: ENSMUSG00000029062

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 59 78 N/A INTRINSIC
coiled coil region 89 180 N/A INTRINSIC
low complexity region 218 225 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
coiled coil region 256 303 N/A INTRINSIC
low complexity region 335 349 N/A INTRINSIC
S_TKc 393 678 5.05e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105600
SMART Domains Protein: ENSMUSP00000101225
Gene: ENSMUSG00000029062

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
low complexity region 93 112 N/A INTRINSIC
coiled coil region 123 214 N/A INTRINSIC
low complexity region 252 259 N/A INTRINSIC
low complexity region 261 272 N/A INTRINSIC
coiled coil region 290 337 N/A INTRINSIC
low complexity region 369 383 N/A INTRINSIC
S_TKc 427 712 5.05e-93 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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,266,565 (GRCm39) V1007A probably damaging Het
Adgrl3 T C 5: 81,841,523 (GRCm39) V800A probably damaging Het
Ankfn1 T A 11: 89,417,445 (GRCm39) M56L probably benign Het
Arfgap3 A C 15: 83,187,302 (GRCm39) V72G possibly damaging Het
B3galnt2 C T 13: 14,165,986 (GRCm39) R294W probably damaging Het
Cadm1 G T 9: 47,708,740 (GRCm39) D157Y probably damaging Het
Castor1 T C 11: 4,170,457 (GRCm39) V151A probably benign Het
Ccdc81 A T 7: 89,525,353 (GRCm39) Y474N probably damaging Het
Cdkl4 T A 17: 80,841,264 (GRCm39) K297I probably benign Het
Cep128 G A 12: 91,314,340 (GRCm39) T146M probably damaging Het
Cfap161 T C 7: 83,426,290 (GRCm39) N236S possibly damaging Het
Chil3 A T 3: 106,071,572 (GRCm39) W31R probably damaging Het
Cmtm2b C T 8: 105,049,353 (GRCm39) S86F probably damaging Het
Cntnap5a G A 1: 116,374,362 (GRCm39) G958D probably damaging Het
Col6a5 A G 9: 105,822,625 (GRCm39) L244P unknown Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Cul9 A G 17: 46,821,905 (GRCm39) Y1857H probably damaging Het
Dst A G 1: 34,208,964 (GRCm39) Q1154R probably damaging Het
Fgg G A 3: 82,921,445 (GRCm39) G376D probably damaging Het
Fmn2 T C 1: 174,526,356 (GRCm39) S1392P probably damaging Het
Focad T C 4: 88,147,615 (GRCm39) V418A probably benign Het
Foxf1 A T 8: 121,811,430 (GRCm39) H98L possibly damaging Het
Frmd4a C CA 2: 4,599,408 (GRCm39) probably null Het
Fry C A 5: 150,419,847 (GRCm39) T639K Het
Fryl A G 5: 73,179,843 (GRCm39) probably null Het
Gdpd4 A G 7: 97,607,012 (GRCm39) probably null Het
Gpt2 A G 8: 86,246,145 (GRCm39) K368R probably damaging Het
Hc A T 2: 34,881,278 (GRCm39) V1447E possibly damaging Het
Kmt5a A G 5: 124,597,982 (GRCm39) T280A probably benign Het
Lrrc4b G T 7: 44,111,234 (GRCm39) V369L probably benign Het
Ly6g5c A G 17: 35,330,783 (GRCm39) M102V probably benign Het
Malrd1 A G 2: 15,700,081 (GRCm39) S643G unknown Het
Mug2 G A 6: 122,056,603 (GRCm39) V1183I probably damaging Het
Nckap1l C T 15: 103,390,587 (GRCm39) T786I probably damaging Het
Neb T C 2: 52,224,504 (GRCm39) probably benign Het
Neu3 A G 7: 99,463,174 (GRCm39) V183A probably benign Het
Nod1 A G 6: 54,921,292 (GRCm39) L342P probably damaging Het
Nop58 T C 1: 59,740,097 (GRCm39) V163A probably damaging Het
Npr3 C T 15: 11,895,768 (GRCm39) G293R probably null Het
Obscn T A 11: 58,952,253 (GRCm39) K3939* probably null Het
Or4d10c G A 19: 12,065,370 (GRCm39) A262V probably benign Het
Or4g16 T A 2: 111,136,793 (GRCm39) M81K probably damaging Het
Or5k16 A T 16: 58,736,410 (GRCm39) M198K possibly damaging Het
Or5p76 A G 7: 108,123,058 (GRCm39) I33T probably benign Het
Or8b12b T C 9: 37,684,117 (GRCm39) L54P probably damaging Het
P2ry6 A G 7: 100,587,784 (GRCm39) Y192H probably damaging Het
Paxbp1 A G 16: 90,819,555 (GRCm39) probably null Het
Pign G A 1: 105,577,092 (GRCm39) T197I probably benign Het
Pirb A T 7: 3,716,817 (GRCm39) probably null Het
Pkdrej C A 15: 85,703,122 (GRCm39) R938L possibly damaging Het
Psg21 A G 7: 18,381,128 (GRCm39) *472R probably null Het
Rabgap1l A T 1: 160,509,654 (GRCm39) S474R probably benign Het
Rrn3 C T 16: 13,628,375 (GRCm39) Q519* probably null Het
Seh1l A T 18: 67,908,188 (GRCm39) K37* probably null Het
Shprh A G 10: 11,040,449 (GRCm39) S641G probably benign Het
Slc4a1 T G 11: 102,243,403 (GRCm39) S743R probably damaging Het
Snx13 C T 12: 35,174,534 (GRCm39) R688* probably null Het
Tlr11 C T 14: 50,599,186 (GRCm39) Q391* probably null Het
Tmbim4 A G 10: 120,053,471 (GRCm39) H90R probably benign Het
Trav8d-1 T C 14: 53,016,326 (GRCm39) S71P possibly damaging Het
Trbv5 G A 6: 41,039,617 (GRCm39) R74Q probably benign Het
Tril A G 6: 53,795,921 (GRCm39) S434P probably benign Het
Uhmk1 A G 1: 170,027,570 (GRCm39) Y376H probably damaging Het
Uty A G Y: 1,170,914 (GRCm39) C317R probably damaging Het
Vmp1 C T 11: 86,476,225 (GRCm39) C377Y probably benign Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdr41 T C 13: 95,142,275 (GRCm39) S150P probably damaging Het
Zfp617 T A 8: 72,685,864 (GRCm39) Y65N probably benign Het
Zfp800 A C 6: 28,244,089 (GRCm39) V292G 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
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'- ATCCAGAGCGTTCCTGATCTC -3'
(R):5'- TAAATGCCATCCAGGTGCC -3'

Sequencing Primer
(F):5'- AGTCTGGAGCCTGATGCC -3'
(R):5'- CATCCAGGTGCCCGGCC -3'
Posted On 2019-10-24