Incidental Mutation 'IGL03126:Elp1'
ID 410142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elp1
Ensembl Gene ENSMUSG00000028431
Gene Name elongator complex protein 1
Synonyms Ikbkap, C78473, 3110040G09Rik, IKAP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03126
Quality Score
Status
Chromosome 4
Chromosomal Location 56749680-56802331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56779717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 565 (S565P)
Ref Sequence ENSEMBL: ENSMUSP00000030140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030140]
AlphaFold Q7TT37
Predicted Effect probably benign
Transcript: ENSMUST00000030140
AA Change: S565P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431
AA Change: S565P

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: ENSMUST00000126441
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik A G 13: 119,617,563 (GRCm39) N562S probably benign Het
Abi1 A G 2: 22,843,479 (GRCm39) V316A probably benign Het
Acsm1 A T 7: 119,232,403 (GRCm39) Q100L possibly damaging Het
Akr1c21 T C 13: 4,627,457 (GRCm39) Y184H possibly damaging Het
Anks3 T C 16: 4,775,891 (GRCm39) T104A probably damaging Het
Bcl2l2 A G 14: 55,122,224 (GRCm39) Y129C probably damaging Het
Cenpf T A 1: 189,391,207 (GRCm39) K875I probably damaging Het
Cntnap1 T C 11: 101,067,127 (GRCm39) V15A probably benign Het
Dnaaf9 A T 2: 130,633,915 (GRCm39) probably null Het
Elmo3 C A 8: 106,033,013 (GRCm39) R66S probably damaging Het
Epn1 C A 7: 5,098,684 (GRCm39) A370E probably benign Het
Esrrg T C 1: 187,730,184 (GRCm39) probably benign Het
Fgd5 T G 6: 92,042,145 (GRCm39) L1034R probably damaging Het
Fpgs A G 2: 32,573,135 (GRCm39) V567A possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
H3c3 T C 13: 23,929,425 (GRCm39) K19R possibly damaging Het
Hsd17b14 T C 7: 45,205,503 (GRCm39) F38S possibly damaging Het
Larp1 T C 11: 57,941,703 (GRCm39) V712A possibly damaging Het
Mep1b T C 18: 21,221,617 (GRCm39) F189S probably damaging Het
Mill1 T C 7: 17,989,832 (GRCm39) V38A probably benign Het
Niban2 C T 2: 32,766,398 (GRCm39) R13W possibly damaging Het
Npy4r T C 14: 33,868,290 (GRCm39) I333V probably benign Het
Numa1 G T 7: 101,649,874 (GRCm39) E1202* probably null Het
Or3a1b C T 11: 74,012,610 (GRCm39) A165V probably benign Het
Or6k6 A G 1: 173,945,276 (GRCm39) I102T probably benign Het
Oxr1 A T 15: 41,683,645 (GRCm39) Q356L possibly damaging Het
Prdx2 T C 8: 85,698,198 (GRCm39) F130L probably damaging Het
Rasa1 A T 13: 85,404,515 (GRCm39) S248R possibly damaging Het
Rgs19 A G 2: 181,333,114 (GRCm39) S49P probably benign Het
Rinl A G 7: 28,495,075 (GRCm39) probably benign Het
Serpinb11 T C 1: 107,307,654 (GRCm39) F362L probably damaging Het
Slamf8 T C 1: 172,411,736 (GRCm39) H253R possibly damaging Het
Tet3 C A 6: 83,353,769 (GRCm39) R829L probably damaging Het
Trappc8 A G 18: 20,996,652 (GRCm39) L420P probably damaging Het
Ube2u A T 4: 100,407,199 (GRCm39) *353Y probably null Het
Wbp1l A C 19: 46,632,838 (GRCm39) D46A probably damaging Het
Zbtb21 A G 16: 97,752,945 (GRCm39) V474A probably damaging Het
Other mutations in Elp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Elp1 APN 4 56,784,537 (GRCm39) critical splice donor site probably null
IGL01521:Elp1 APN 4 56,771,059 (GRCm39) missense probably benign 0.27
IGL02069:Elp1 APN 4 56,779,731 (GRCm39) missense probably benign 0.31
IGL02162:Elp1 APN 4 56,796,502 (GRCm39) critical splice donor site probably null
IGL02252:Elp1 APN 4 56,759,813 (GRCm39) missense probably benign 0.09
IGL02726:Elp1 APN 4 56,767,878 (GRCm39) critical splice acceptor site probably null
IGL02822:Elp1 APN 4 56,774,520 (GRCm39) critical splice donor site probably null
IGL03024:Elp1 APN 4 56,774,686 (GRCm39) critical splice donor site probably null
R0211:Elp1 UTSW 4 56,795,545 (GRCm39) missense probably damaging 1.00
R0239:Elp1 UTSW 4 56,784,596 (GRCm39) missense probably benign 0.00
R0239:Elp1 UTSW 4 56,784,596 (GRCm39) missense probably benign 0.00
R0603:Elp1 UTSW 4 56,792,105 (GRCm39) missense possibly damaging 0.94
R1109:Elp1 UTSW 4 56,786,723 (GRCm39) missense probably benign 0.00
R1314:Elp1 UTSW 4 56,786,647 (GRCm39) missense probably benign 0.00
R1333:Elp1 UTSW 4 56,770,969 (GRCm39) splice site probably benign
R1434:Elp1 UTSW 4 56,781,193 (GRCm39) missense probably benign 0.02
R1547:Elp1 UTSW 4 56,798,810 (GRCm39) missense probably damaging 1.00
R1547:Elp1 UTSW 4 56,792,090 (GRCm39) missense probably damaging 1.00
R1587:Elp1 UTSW 4 56,786,666 (GRCm39) nonsense probably null
R1601:Elp1 UTSW 4 56,774,756 (GRCm39) nonsense probably null
R2076:Elp1 UTSW 4 56,786,620 (GRCm39) missense probably damaging 0.98
R2153:Elp1 UTSW 4 56,779,636 (GRCm39) splice site probably null
R2263:Elp1 UTSW 4 56,755,298 (GRCm39) splice site probably null
R2325:Elp1 UTSW 4 56,784,622 (GRCm39) missense probably benign 0.00
R2333:Elp1 UTSW 4 56,775,456 (GRCm39) missense probably benign 0.28
R3151:Elp1 UTSW 4 56,770,985 (GRCm39) missense probably benign 0.24
R3622:Elp1 UTSW 4 56,759,925 (GRCm39) splice site probably null
R3624:Elp1 UTSW 4 56,798,708 (GRCm39) missense possibly damaging 0.52
R3889:Elp1 UTSW 4 56,759,852 (GRCm39) missense probably damaging 1.00
R4007:Elp1 UTSW 4 56,794,139 (GRCm39) missense probably damaging 1.00
R4196:Elp1 UTSW 4 56,755,353 (GRCm39) missense probably damaging 1.00
R4794:Elp1 UTSW 4 56,781,176 (GRCm39) small deletion probably benign
R5330:Elp1 UTSW 4 56,800,001 (GRCm39) missense probably benign 0.01
R5331:Elp1 UTSW 4 56,800,001 (GRCm39) missense probably benign 0.01
R5360:Elp1 UTSW 4 56,800,104 (GRCm39) missense probably benign 0.06
R5362:Elp1 UTSW 4 56,778,969 (GRCm39) missense probably damaging 0.99
R5645:Elp1 UTSW 4 56,776,920 (GRCm39) missense possibly damaging 0.93
R5877:Elp1 UTSW 4 56,787,807 (GRCm39) missense probably damaging 1.00
R6268:Elp1 UTSW 4 56,762,305 (GRCm39) missense probably damaging 1.00
R6284:Elp1 UTSW 4 56,762,281 (GRCm39) missense probably damaging 0.99
R6526:Elp1 UTSW 4 56,798,812 (GRCm39) critical splice acceptor site probably null
R6610:Elp1 UTSW 4 56,758,236 (GRCm39) missense probably benign 0.02
R6627:Elp1 UTSW 4 56,784,647 (GRCm39) splice site probably null
R6786:Elp1 UTSW 4 56,771,555 (GRCm39) missense possibly damaging 0.80
R6823:Elp1 UTSW 4 56,787,939 (GRCm39) missense probably damaging 1.00
R7129:Elp1 UTSW 4 56,787,944 (GRCm39) missense probably damaging 1.00
R7157:Elp1 UTSW 4 56,781,176 (GRCm39) small deletion probably benign
R7180:Elp1 UTSW 4 56,796,535 (GRCm39) missense probably damaging 1.00
R7391:Elp1 UTSW 4 56,781,212 (GRCm39) missense probably benign 0.00
R7391:Elp1 UTSW 4 56,781,211 (GRCm39) missense possibly damaging 0.82
R7403:Elp1 UTSW 4 56,778,994 (GRCm39) missense probably damaging 1.00
R7432:Elp1 UTSW 4 56,776,925 (GRCm39) missense probably damaging 1.00
R7674:Elp1 UTSW 4 56,792,075 (GRCm39) missense probably damaging 0.97
R7736:Elp1 UTSW 4 56,776,920 (GRCm39) missense possibly damaging 0.93
R7755:Elp1 UTSW 4 56,774,552 (GRCm39) missense possibly damaging 0.80
R7760:Elp1 UTSW 4 56,790,892 (GRCm39) missense probably benign 0.20
R7849:Elp1 UTSW 4 56,758,968 (GRCm39) missense possibly damaging 0.65
R7959:Elp1 UTSW 4 56,774,737 (GRCm39) missense probably damaging 1.00
R7970:Elp1 UTSW 4 56,771,466 (GRCm39) missense probably damaging 1.00
R8324:Elp1 UTSW 4 56,772,491 (GRCm39) missense probably damaging 1.00
R8456:Elp1 UTSW 4 56,781,176 (GRCm39) small deletion probably benign
R8671:Elp1 UTSW 4 56,771,453 (GRCm39) missense probably damaging 1.00
R9245:Elp1 UTSW 4 56,771,003 (GRCm39) missense probably benign 0.01
R9562:Elp1 UTSW 4 56,772,521 (GRCm39) missense probably benign 0.00
R9565:Elp1 UTSW 4 56,772,521 (GRCm39) missense probably benign 0.00
R9568:Elp1 UTSW 4 56,786,711 (GRCm39) missense probably damaging 1.00
Z1176:Elp1 UTSW 4 56,790,146 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02