Incidental Mutation 'R7755:Elp1'
ID 597490
Institutional Source Beutler Lab
Gene Symbol Elp1
Ensembl Gene ENSMUSG00000028431
Gene Name elongator complex protein 1
Synonyms Ikbkap, C78473, 3110040G09Rik, IKAP
MMRRC Submission 045811-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7755 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 56749680-56802331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56774552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 779 (N779S)
Ref Sequence ENSEMBL: ENSMUSP00000030140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030140]
AlphaFold Q7TT37
Predicted Effect possibly damaging
Transcript: ENSMUST00000030140
AA Change: N779S

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431
AA Change: N779S

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
Meta Mutation Damage Score 0.1368 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (52/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,236,187 (GRCm39) M1179I probably benign Het
4930402F06Rik T C 2: 35,266,349 (GRCm39) Y107C probably damaging Het
Aff4 T C 11: 53,289,206 (GRCm39) S452P probably damaging Het
Astn2 T C 4: 65,712,795 (GRCm39) D615G probably damaging Het
Begain A G 12: 109,018,802 (GRCm39) L215P probably benign Het
Carf T A 1: 60,187,214 (GRCm39) S606T probably benign Het
Cngb3 A T 4: 19,461,684 (GRCm39) T522S probably benign Het
Ctsll3 A T 13: 60,948,219 (GRCm39) F153I probably damaging Het
Cubn G A 2: 13,284,889 (GRCm39) T3509I probably benign Het
Dmrta1 T C 4: 89,580,170 (GRCm39) S377P probably benign Het
Dnmbp G A 19: 43,838,525 (GRCm39) A659V probably benign Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 T C 9: 7,015,490 (GRCm39) D3598G probably benign Het
Flot2 T C 11: 77,940,339 (GRCm39) F29L probably benign Het
Hectd1 A T 12: 51,849,003 (GRCm39) I367K possibly damaging Het
Ivl T A 3: 92,479,317 (GRCm39) K249N probably damaging Het
Khnyn A G 14: 56,125,425 (GRCm39) T503A probably damaging Het
Mbd4 T A 6: 115,821,546 (GRCm39) I490F probably damaging Het
Mlip T C 9: 77,136,838 (GRCm39) T690A probably benign Het
Mmp1a T A 9: 7,467,005 (GRCm39) D227E possibly damaging Het
Mrgprf T C 7: 144,862,380 (GRCm39) L314P probably damaging Het
Ndufb9 T G 15: 58,808,255 (GRCm39) Y80* probably null Het
Neto2 C T 8: 86,396,285 (GRCm39) R155H probably damaging Het
Npat T A 9: 53,470,470 (GRCm39) N365K possibly damaging Het
Nsl1 G A 1: 190,795,380 (GRCm39) V49M probably benign Het
Nudt21 T A 8: 94,749,493 (GRCm39) Y191F probably benign Het
Or2w25 A G 11: 59,504,467 (GRCm39) R226G probably damaging Het
Or8b54 T G 9: 38,687,073 (GRCm39) I174S possibly damaging Het
Pcdh18 T C 3: 49,709,278 (GRCm39) Y679C possibly damaging Het
Pkd1l3 A G 8: 110,356,798 (GRCm39) D741G possibly damaging Het
Pkhd1 T C 1: 20,617,717 (GRCm39) D956G probably damaging Het
Poglut2 T C 1: 44,157,733 (GRCm39) probably benign Het
Pparg C T 6: 115,440,067 (GRCm39) P214S probably damaging Het
Ppargc1a T A 5: 51,630,883 (GRCm39) Y582F unknown Het
Prdm9 C T 17: 15,765,226 (GRCm39) C518Y probably damaging Het
Rangrf T A 11: 68,864,540 (GRCm39) E2V probably damaging Het
Rpl19 T C 11: 97,919,193 (GRCm39) I45T probably benign Het
Rtn4rl2 T C 2: 84,702,807 (GRCm39) D255G possibly damaging Het
Shld2 T C 14: 33,970,847 (GRCm39) K627E probably damaging Het
Sirt3 T C 7: 140,457,963 (GRCm39) D62G Het
Slc22a30 T C 19: 8,314,133 (GRCm39) T518A probably damaging Het
Slc40a1 T C 1: 45,950,466 (GRCm39) T329A probably damaging Het
Slc6a17 C T 3: 107,381,671 (GRCm39) G470D probably damaging Het
Syne2 A T 12: 76,044,181 (GRCm39) I3923L probably benign Het
Tiam2 C T 17: 3,471,591 (GRCm39) S411L probably benign Het
Ticam1 A G 17: 56,577,182 (GRCm39) C638R unknown Het
Tnrc6c A G 11: 117,648,912 (GRCm39) T1528A probably benign Het
Ufl1 A G 4: 25,262,274 (GRCm39) I404T probably benign Het
Usp43 A T 11: 67,782,294 (GRCm39) S375T possibly damaging Het
Vmn2r88 C G 14: 51,650,503 (GRCm39) A72G probably benign Het
Vmn2r91 A T 17: 18,330,311 (GRCm39) I532F possibly damaging Het
Vmn2r95 T C 17: 18,644,367 (GRCm39) M1T probably null Het
Xirp2 T C 2: 67,345,526 (GRCm39) V2589A probably benign Het
Zfp128 C T 7: 12,624,240 (GRCm39) Q203* probably null 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
IGL03126:Elp1 APN 4 56,779,717 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TTATGGGGAAATCTGAAGCAAGTC -3'
(R):5'- TGCATGAGGAAACTGAGAATTAACC -3'

Sequencing Primer
(F):5'- ATGTCTAAGTTCGAGGCCAGC -3'
(R):5'- GGAAACTGAGAATTAACCTCAATCTG -3'
Posted On 2019-11-26