Incidental Mutation 'IGL02502:Ikbkg'
ID296108
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 #IGL02502
Quality Score
Status
ChromosomeX
Chromosomal Location74393290-74453854 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 74443827 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 334 (V334E)
Ref Sequence ENSEMBL: ENSMUSP00000004330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004330] [ENSMUST00000064407] [ENSMUST00000114127] [ENSMUST00000114128] [ENSMUST00000114129] [ENSMUST00000114130] [ENSMUST00000114133] [ENSMUST00000130802] [ENSMUST00000135165] [ENSMUST00000149525] [ENSMUST00000156707] [ENSMUST00000164101] [ENSMUST00000180230]
Predicted Effect probably benign
Transcript: ENSMUST00000004330
AA Change: V334E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000004330
Gene: ENSMUSG00000004221
AA Change: V334E

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 benign
Transcript: ENSMUST00000064407
AA Change: V315E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000064017
Gene: ENSMUSG00000004221
AA Change: V315E

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 benign
Transcript: ENSMUST00000114127
AA Change: V316E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109762
Gene: ENSMUSG00000004221
AA Change: V316E

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 benign
Transcript: ENSMUST00000114128
AA Change: V316E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109763
Gene: ENSMUSG00000004221
AA Change: V316E

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 benign
Transcript: ENSMUST00000114129
AA Change: V315E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109764
Gene: ENSMUSG00000004221
AA Change: V315E

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 benign
Transcript: ENSMUST00000114130
AA Change: V328E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109765
Gene: ENSMUSG00000004221
AA Change: V328E

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 benign
Transcript: ENSMUST00000114133
AA Change: V316E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109768
Gene: ENSMUSG00000004221
AA Change: V316E

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 benign
Transcript: ENSMUST00000130802
SMART Domains Protein: ENSMUSP00000116875
Gene: ENSMUSG00000004221

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 probably benign
Transcript: ENSMUST00000135165
SMART Domains Protein: ENSMUSP00000116615
Gene: ENSMUSG00000004221

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: ENSMUST00000143784
Predicted Effect probably benign
Transcript: ENSMUST00000149525
SMART Domains Protein: ENSMUSP00000120080
Gene: ENSMUSG00000004221

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 probably benign
Transcript: ENSMUST00000156707
AA Change: V182E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116230
Gene: ENSMUSG00000004221
AA Change: V182E

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 benign
Transcript: ENSMUST00000164101
AA Change: V316E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126770
Gene: ENSMUSG00000004221
AA Change: V316E

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 benign
Transcript: ENSMUST00000180230
AA Change: V315E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136573
Gene: ENSMUSG00000004221
AA Change: V315E

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 128,075,884 N216S probably damaging Het
Akap12 A G 10: 4,353,163 D96G probably damaging Het
Akna A G 4: 63,368,203 V1353A probably benign Het
Ambra1 A G 2: 91,900,532 D914G probably damaging Het
Ap1s3 A G 1: 79,623,722 V84A possibly damaging Het
Arhgef6 T C X: 57,280,263 E282G probably damaging Het
C2cd2 G T 16: 97,876,390 S378Y possibly damaging Het
Cd101 C A 3: 101,011,825 A658S probably damaging Het
Cep295 A C 9: 15,350,913 probably benign Het
Csn1s1 A G 5: 87,680,925 I302V probably benign Het
Cst3 A G 2: 148,875,145 probably benign Het
Cyp2b9 T C 7: 26,187,814 probably null Het
Dffb A G 4: 153,965,616 probably benign Het
Dnah10 A G 5: 124,821,287 Y3768C probably damaging Het
Eif4g2 T C 7: 111,081,541 S3G probably damaging Het
Erbb3 C T 10: 128,570,284 R1088H probably benign Het
Evpl T C 11: 116,222,718 D1382G probably damaging Het
Fam168a A G 7: 100,824,210 D102G probably damaging Het
Fbxo7 A G 10: 86,033,297 Y284C probably damaging Het
G6pd2 T C 5: 61,809,628 Y249H probably damaging Het
Gm1123 A T 9: 99,009,390 Y335* probably null Het
Gm5624 C T 14: 44,559,839 probably null Het
Hectd1 A T 12: 51,797,852 M536K possibly damaging Het
Ipo7 T C 7: 110,051,050 L769P probably damaging Het
Jmjd1c A T 10: 67,225,861 K1331I probably benign Het
Krt32 T C 11: 100,087,923 K102E probably damaging Het
Lrrc34 A T 3: 30,645,245 N20K probably benign Het
Lrrc47 A G 4: 154,016,014 E349G probably benign Het
Mdn1 A G 4: 32,670,579 I415V possibly damaging Het
Myh10 A G 11: 68,814,372 probably null Het
Nbeal2 A G 9: 110,633,768 S1410P probably damaging Het
Nfx1 T C 4: 40,976,345 probably benign Het
Notch3 A T 17: 32,158,278 C246* probably null Het
Nr3c2 A G 8: 77,242,514 Y976C probably damaging Het
Olfr1484 A G 19: 13,585,748 Y105C probably damaging Het
Olfr503 T A 7: 108,544,639 M38K probably damaging Het
Olfr64 A G 7: 103,893,489 V82A probably damaging Het
P2rx7 C T 5: 122,680,987 R491C possibly damaging Het
Pdzd3 G A 9: 44,249,651 A206V probably benign Het
Phex T A X: 157,183,827 Y625F possibly damaging Het
Pkhd1 T C 1: 20,392,165 D2055G probably damaging Het
Pmm2 T C 16: 8,645,363 probably benign Het
Prdm15 T C 16: 97,839,339 D16G probably damaging Het
Prune2 T A 19: 17,123,881 C2250S probably benign Het
Rasgef1a T A 6: 118,080,482 F48Y probably benign Het
Rhoq T C 17: 86,963,649 V15A probably damaging Het
Rnf216 G A 5: 143,068,867 A585V probably damaging Het
Sept9 T A 11: 117,290,662 I114N probably damaging Het
Shprh T A 10: 11,194,357 D1492E possibly damaging Het
Slc22a26 A T 19: 7,790,760 probably null Het
Tek T G 4: 94,853,581 probably null Het
Tenm3 T C 8: 48,288,016 E782G probably damaging Het
Trmt5 A G 12: 73,281,227 C401R probably benign Het
Tspear T G 10: 77,852,958 probably benign Het
Ubr5 G A 15: 38,030,689 T414I probably benign Het
Vcl A T 14: 21,019,385 T710S probably damaging Het
Vmn2r25 A T 6: 123,839,433 D396E probably damaging Het
Wtip A G 7: 34,118,669 probably null Het
Zap70 A G 1: 36,778,806 probably benign Het
Other mutations in Ikbkg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Ikbkg APN X 74432860 unclassified probably damaging 1.00
panr2 UTSW X 74437222 missense probably damaging 0.98
Posted OnApr 16, 2015