Incidental Mutation 'IGL02726:Ikbkap'
ID305232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ikbkap
Ensembl Gene ENSMUSG00000028431
Gene Nameinhibitor of kappa light polypeptide enhancer in B cells, kinase complex-associated protein
SynonymsC78473, Elp1, IKAP, 3110040G09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02726
Quality Score
Status
Chromosome4
Chromosomal Location56749680-56802331 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to A at 56767878 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030140]
Predicted Effect probably null
Transcript: ENSMUST00000030140
SMART Domains Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431

DomainStartEndE-ValueType
Pfam:IKI3 1 955 N/A PFAM
low complexity region 1186 1205 N/A INTRINSIC
low complexity region 1210 1225 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150002
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality with arrested neural and vascular development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik A G 13: 34,952,960 probably benign Het
Anapc1 A T 2: 128,659,785 M779K probably benign Het
Art1 G A 7: 102,110,748 V85M probably damaging Het
Atad2b G T 12: 4,974,003 E43* probably null Het
Clec4a4 A T 6: 122,990,379 I5F probably damaging Het
Cr1l A T 1: 195,129,880 I45N probably damaging Het
Dmbt1 T A 7: 131,074,410 probably benign Het
Dnajb3 A T 1: 88,205,650 V10E probably damaging Het
Dnajc22 A T 15: 99,101,000 H22L probably damaging Het
Dnal4 A G 15: 79,763,544 V40A probably damaging Het
Dsg1b G A 18: 20,399,485 V529I probably benign Het
Fam131c T A 4: 141,382,802 D170E probably benign Het
Gm13088 G T 4: 143,655,385 P247H probably damaging Het
Got1 G A 19: 43,500,412 probably null Het
Herc1 T A 9: 66,441,988 V2043E probably benign Het
Hmcn1 A T 1: 150,656,694 Y3147* probably null Het
Ifi44 T C 3: 151,749,596 probably benign Het
Il1b A T 2: 129,367,322 D129E probably damaging Het
Ino80 A T 2: 119,442,483 I504N probably damaging Het
Itpr2 A G 6: 146,375,921 I655T probably benign Het
Kcnk4 A G 19: 6,927,089 probably null Het
Mrgprb2 T A 7: 48,552,870 R36W probably damaging Het
Mslnl T C 17: 25,744,103 probably null Het
Olfr1008 G T 2: 85,690,210 L260F possibly damaging Het
Olfr1338 T A 4: 118,753,764 Y260F probably benign Het
Olfr393 T C 11: 73,847,865 S87G probably benign Het
Olfr694 A C 7: 106,689,370 Y120* probably null Het
Pcnx4 G T 12: 72,574,212 M935I probably benign Het
Pdgfra C T 5: 75,194,957 Q1043* probably null Het
Pf4 T C 5: 90,772,664 V28A probably benign Het
Piezo1 A G 8: 122,487,155 L1689P probably damaging Het
Ppa2 A G 3: 133,370,461 S284G possibly damaging Het
Psd2 T C 18: 35,987,302 probably null Het
Rbm25 G T 12: 83,672,852 G549W probably damaging Het
Ryr2 T C 13: 11,738,320 D1705G probably damaging Het
Shf A T 2: 122,359,488 D96E probably damaging Het
Slc1a1 G A 19: 28,911,769 V481M probably benign Het
Slc4a9 T C 18: 36,539,617 V807A probably benign Het
Syne2 T A 12: 76,015,582 I4226N probably damaging Het
Tkfc A T 19: 10,596,212 V254E possibly damaging Het
Ubr2 A C 17: 46,972,921 Y601D probably damaging Het
Ubr5 A C 15: 38,000,562 probably benign Het
Vmn1r27 A T 6: 58,215,869 I50K possibly damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Ikbkap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Ikbkap APN 4 56784537 critical splice donor site probably null
IGL01521:Ikbkap APN 4 56771059 missense probably benign 0.27
IGL02069:Ikbkap APN 4 56779731 missense probably benign 0.31
IGL02162:Ikbkap APN 4 56796502 critical splice donor site probably null
IGL02252:Ikbkap APN 4 56759813 missense probably benign 0.09
IGL02822:Ikbkap APN 4 56774520 critical splice donor site probably null
IGL03024:Ikbkap APN 4 56774686 critical splice donor site probably null
IGL03126:Ikbkap APN 4 56779717 missense probably benign
R0211:Ikbkap UTSW 4 56795545 missense probably damaging 1.00
R0239:Ikbkap UTSW 4 56784596 missense probably benign 0.00
R0239:Ikbkap UTSW 4 56784596 missense probably benign 0.00
R0603:Ikbkap UTSW 4 56792105 missense possibly damaging 0.94
R1109:Ikbkap UTSW 4 56786723 missense probably benign 0.00
R1314:Ikbkap UTSW 4 56786647 missense probably benign 0.00
R1333:Ikbkap UTSW 4 56770969 splice site probably benign
R1434:Ikbkap UTSW 4 56781193 missense probably benign 0.02
R1547:Ikbkap UTSW 4 56792090 missense probably damaging 1.00
R1547:Ikbkap UTSW 4 56798810 missense probably damaging 1.00
R1587:Ikbkap UTSW 4 56786666 nonsense probably null
R1601:Ikbkap UTSW 4 56774756 nonsense probably null
R2076:Ikbkap UTSW 4 56786620 missense probably damaging 0.98
R2153:Ikbkap UTSW 4 56779636 intron probably null
R2263:Ikbkap UTSW 4 56755298 splice site probably null
R2325:Ikbkap UTSW 4 56784622 missense probably benign 0.00
R2333:Ikbkap UTSW 4 56775456 missense probably benign 0.28
R3151:Ikbkap UTSW 4 56770985 missense probably benign 0.24
R3622:Ikbkap UTSW 4 56759925 splice site probably null
R3624:Ikbkap UTSW 4 56798708 missense possibly damaging 0.52
R3889:Ikbkap UTSW 4 56759852 missense probably damaging 1.00
R4007:Ikbkap UTSW 4 56794139 missense probably damaging 1.00
R4196:Ikbkap UTSW 4 56755353 missense probably damaging 1.00
R4794:Ikbkap UTSW 4 56781176 small deletion probably benign
R5330:Ikbkap UTSW 4 56800001 missense probably benign 0.01
R5331:Ikbkap UTSW 4 56800001 missense probably benign 0.01
R5360:Ikbkap UTSW 4 56800104 missense probably benign 0.06
R5362:Ikbkap UTSW 4 56778969 missense probably damaging 0.99
R5645:Ikbkap UTSW 4 56776920 missense possibly damaging 0.93
R5877:Ikbkap UTSW 4 56787807 missense probably damaging 1.00
R6268:Ikbkap UTSW 4 56762305 missense probably damaging 1.00
R6284:Ikbkap UTSW 4 56762281 missense probably damaging 0.99
R6526:Ikbkap UTSW 4 56798812 critical splice acceptor site probably null
R6610:Ikbkap UTSW 4 56758236 missense probably benign 0.02
R6627:Ikbkap UTSW 4 56784647 splice site probably null
R6786:Ikbkap UTSW 4 56771555 missense possibly damaging 0.80
R6823:Ikbkap UTSW 4 56787939 missense probably damaging 1.00
R7129:Ikbkap UTSW 4 56787944 missense probably damaging 1.00
R7157:Ikbkap UTSW 4 56781176 small deletion probably benign
R7180:Ikbkap UTSW 4 56796535 missense probably damaging 1.00
Posted On2015-04-16