Incidental Mutation 'IGL00543:Ikbkg'
ID332577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ikbkg
Ensembl Gene ENSMUSG00000004221
Gene Nameinhibitor of kappaB kinase gamma
SynonymsNEMO, 1110037D23Rik, IKK[g]
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00543
Quality Score
Status
ChromosomeX
Chromosomal Location74393290-74453854 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74432860 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 14 (V14A)
Ref Sequence ENSEMBL: ENSMUSP00000136573 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004327] [ENSMUST00000004330] [ENSMUST00000064407] [ENSMUST00000114127] [ENSMUST00000114128] [ENSMUST00000114129] [ENSMUST00000114130] [ENSMUST00000114133] [ENSMUST00000130802] [ENSMUST00000132749] [ENSMUST00000135165] [ENSMUST00000138564] [ENSMUST00000143521] [ENSMUST00000144947] [ENSMUST00000149525] [ENSMUST00000156707] [ENSMUST00000164101] [ENSMUST00000180230]
Predicted Effect probably benign
Transcript: ENSMUST00000004327
SMART Domains Protein: ENSMUSP00000004327
Gene: ENSMUSG00000031400

DomainStartEndE-ValueType
Pfam:G6PD_N 35 210 3.6e-67 PFAM
Pfam:G6PD_C 212 506 1.9e-142 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000004330
AA Change: V32A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004330
Gene: ENSMUSG00000004221
AA Change: V32A

DomainStartEndE-ValueType
Pfam:NEMO 62 129 1.5e-30 PFAM
low complexity region 135 152 N/A INTRINSIC
PDB:3CL3|E 164 266 5e-51 PDB
low complexity region 270 291 N/A INTRINSIC
PDB:3JSV|D 292 361 3e-25 PDB
low complexity region 377 393 N/A INTRINSIC
PDB:2JVX|A 405 430 5e-12 PDB
Blast:ZnF_C2H2 406 426 5e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000064407
AA Change: V14A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064017
Gene: ENSMUSG00000004221
AA Change: V14A

DomainStartEndE-ValueType
Pfam:NEMO 44 111 6.2e-31 PFAM
PDB:3CL3|E 145 247 4e-51 PDB
low complexity region 251 272 N/A INTRINSIC
PDB:3JSV|D 273 342 3e-25 PDB
low complexity region 358 374 N/A INTRINSIC
PDB:2JVX|A 386 411 3e-12 PDB
Blast:ZnF_C2H2 387 407 4e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000114127
AA Change: V14A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109762
Gene: ENSMUSG00000004221
AA Change: V14A

DomainStartEndE-ValueType
Pfam:NEMO 44 111 5e-31 PFAM
low complexity region 117 134 N/A INTRINSIC
PDB:3CL3|E 146 248 3e-51 PDB
low complexity region 252 273 N/A INTRINSIC
PDB:3JSV|D 274 343 3e-25 PDB
low complexity region 359 375 N/A INTRINSIC
PDB:2JVX|A 387 412 3e-12 PDB
Blast:ZnF_C2H2 388 408 3e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000114128
AA Change: V14A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109763
Gene: ENSMUSG00000004221
AA Change: V14A

DomainStartEndE-ValueType
Pfam:NEMO 44 111 5e-31 PFAM
low complexity region 117 134 N/A INTRINSIC
PDB:3CL3|E 146 248 3e-51 PDB
low complexity region 252 273 N/A INTRINSIC
PDB:3JSV|D 274 343 3e-25 PDB
low complexity region 359 375 N/A INTRINSIC
PDB:2JVX|A 387 412 3e-12 PDB
Blast:ZnF_C2H2 388 408 3e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000114129
AA Change: V14A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109764
Gene: ENSMUSG00000004221
AA Change: V14A

DomainStartEndE-ValueType
Pfam:NEMO 44 111 6.2e-31 PFAM
PDB:3CL3|E 145 247 4e-51 PDB
low complexity region 251 272 N/A INTRINSIC
PDB:3JSV|D 273 342 3e-25 PDB
low complexity region 358 374 N/A INTRINSIC
PDB:2JVX|A 386 411 3e-12 PDB
Blast:ZnF_C2H2 387 407 4e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000114130
AA Change: V26A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109765
Gene: ENSMUSG00000004221
AA Change: V26A

DomainStartEndE-ValueType
Pfam:NEMO 56 123 2.6e-31 PFAM
low complexity region 129 146 N/A INTRINSIC
PDB:3CL3|E 158 260 5e-51 PDB
low complexity region 264 285 N/A INTRINSIC
PDB:3JSV|D 286 355 3e-25 PDB
low complexity region 371 387 N/A INTRINSIC
PDB:2JVX|A 399 424 4e-12 PDB
Blast:ZnF_C2H2 400 420 5e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000114133
AA Change: V14A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109768
Gene: ENSMUSG00000004221
AA Change: V14A

DomainStartEndE-ValueType
Pfam:NEMO 44 111 5e-31 PFAM
low complexity region 117 134 N/A INTRINSIC
PDB:3CL3|E 146 248 3e-51 PDB
low complexity region 252 273 N/A INTRINSIC
PDB:3JSV|D 274 343 3e-25 PDB
low complexity region 359 375 N/A INTRINSIC
PDB:2JVX|A 387 412 3e-12 PDB
Blast:ZnF_C2H2 388 408 3e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000130802
AA Change: V14A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116875
Gene: ENSMUSG00000004221
AA Change: V14A

DomainStartEndE-ValueType
Pfam:NEMO 44 111 5e-31 PFAM
low complexity region 117 134 N/A INTRINSIC
PDB:3CL3|E 146 228 3e-38 PDB
Predicted Effect unknown
Transcript: ENSMUST00000132749
AA Change: V14A
Predicted Effect probably damaging
Transcript: ENSMUST00000135165
AA Change: V14A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116615
Gene: ENSMUSG00000004221
AA Change: V14A

DomainStartEndE-ValueType
Pfam:NEMO 44 111 5.9e-31 PFAM
low complexity region 117 134 N/A INTRINSIC
PDB:3CL3|E 146 248 7e-53 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135894
Predicted Effect probably damaging
Transcript: ENSMUST00000138564
AA Change: V20A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118884
Gene: ENSMUSG00000004221
AA Change: V20A

DomainStartEndE-ValueType
Pfam:NEMO 50 117 1.2e-28 PFAM
low complexity region 123 140 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139036
Predicted Effect probably benign
Transcript: ENSMUST00000143521
SMART Domains Protein: ENSMUSP00000115915
Gene: ENSMUSG00000031400

DomainStartEndE-ValueType
Pfam:G6PD_N 35 211 3.9e-68 PFAM
Pfam:G6PD_C 213 396 2.8e-92 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144947
AA Change: V14A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115829
Gene: ENSMUSG00000004221
AA Change: V14A

DomainStartEndE-ValueType
Pfam:NEMO 44 111 1.3e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149525
AA Change: V26A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120080
Gene: ENSMUSG00000004221
AA Change: V26A

DomainStartEndE-ValueType
Pfam:NEMO 56 123 6.6e-31 PFAM
low complexity region 129 146 N/A INTRINSIC
PDB:3CL3|E 158 265 2e-53 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155963
Predicted Effect probably benign
Transcript: ENSMUST00000156707
SMART Domains Protein: ENSMUSP00000116230
Gene: ENSMUSG00000004221

DomainStartEndE-ValueType
PDB:3CL3|E 12 114 2e-54 PDB
low complexity region 118 139 N/A INTRINSIC
PDB:2ZVN|H 140 190 2e-28 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000164101
AA Change: V14A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126770
Gene: ENSMUSG00000004221
AA Change: V14A

DomainStartEndE-ValueType
Pfam:NEMO 44 111 5e-31 PFAM
low complexity region 117 134 N/A INTRINSIC
PDB:3CL3|E 146 248 3e-51 PDB
low complexity region 252 273 N/A INTRINSIC
PDB:3JSV|D 274 343 3e-25 PDB
low complexity region 359 375 N/A INTRINSIC
PDB:2JVX|A 387 412 3e-12 PDB
Blast:ZnF_C2H2 388 408 3e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000180230
AA Change: V14A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136573
Gene: ENSMUSG00000004221
AA Change: V14A

DomainStartEndE-ValueType
Pfam:NEMO 44 111 6.2e-31 PFAM
PDB:3CL3|E 145 247 4e-51 PDB
low complexity region 251 272 N/A INTRINSIC
PDB:3JSV|D 273 342 3e-25 PDB
low complexity region 358 374 N/A INTRINSIC
PDB:2JVX|A 386 411 3e-12 PDB
Blast:ZnF_C2H2 387 407 4e-6 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]
PHENOTYPE: Males hemizygous for targeted null mutations exhibit embryonic lethality by embryonic day 13.5 from apoptotic liver damage. Heterozygous females show patchy skin lesions with granulocyte infiltration, growth retardation, and shortened lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530003J23Rik G T 10: 117,238,447 T45K probably benign Het
Acvr1c A G 2: 58,315,823 C42R probably damaging Het
Adamts1 T C 16: 85,795,573 H649R probably benign Het
Capn3 T C 2: 120,486,482 probably benign Het
Cd44 T C 2: 102,855,947 T135A possibly damaging Het
Cntnap5c T A 17: 58,294,350 I831N probably benign Het
Eprs G T 1: 185,407,148 C910F probably benign Het
Epx T C 11: 87,869,925 R394G probably damaging Het
Fam129b T A 2: 32,912,471 F158Y probably benign Het
Hps5 T C 7: 46,778,073 D338G probably benign Het
Lrp1b A G 2: 41,468,948 F638L possibly damaging Het
Mak A T 13: 41,055,713 Y87N probably damaging Het
Morc2a T A 11: 3,680,283 I493N probably damaging Het
Msl2 T A 9: 101,101,070 H214Q probably benign Het
Myom3 A C 4: 135,762,571 T18P possibly damaging Het
Ndst3 G T 3: 123,672,263 T20N probably damaging Het
Nelfe T A 17: 34,853,616 S124T possibly damaging Het
Nlgn1 T G 3: 25,433,781 T797P probably damaging Het
Pcdh18 T C 3: 49,753,379 D414G probably damaging Het
Pde4dip T C 3: 97,757,624 S386G possibly damaging Het
Ppig T A 2: 69,749,716 H531Q unknown Het
Ppm1n T C 7: 19,278,184 Y348C probably benign Het
Rdh9 T C 10: 127,790,984 V302A probably benign Het
Serpinb3b A G 1: 107,157,666 probably null Het
Slc39a10 A G 1: 46,819,057 probably benign Het
Other mutations in Ikbkg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02502:Ikbkg APN X 74443827 missense probably benign 0.00
panr2 UTSW X 74437222 missense probably damaging 1.00
Posted On2015-08-05