Incidental Mutation 'R7760:Elp1'
ID 597782
Institutional Source Beutler Lab
Gene Symbol Elp1
Ensembl Gene ENSMUSG00000028431
Gene Name elongator complex protein 1
Synonyms Ikbkap, C78473, 3110040G09Rik, IKAP
MMRRC Submission 045816-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 56749680-56802331 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56790892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 287 (V287A)
Ref Sequence ENSEMBL: ENSMUSP00000030140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030140]
AlphaFold Q7TT37
Predicted Effect probably benign
Transcript: ENSMUST00000030140
AA Change: V287A

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431
AA Change: V287A

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 0.1107 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R 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
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
R7755:Elp1 UTSW 4 56,774,552 (GRCm39) missense possibly damaging 0.80
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'- GGCACATAAGCTGCTTCATG -3'
(R):5'- TCTAAATCTCTGGGCCTGCAG -3'

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