Incidental Mutation 'R4794:Elp1'
ID 368835
Institutional Source Beutler Lab
Gene Symbol Elp1
Ensembl Gene ENSMUSG00000028431
Gene Name elongator complex protein 1
Synonyms Ikbkap, C78473, 3110040G09Rik, IKAP
MMRRC Submission 042420-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4794 (G1)
Quality Score 114
Status Not validated
Chromosome 4
Chromosomal Location 56749680-56802331 bp(-) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) ACTTCTTCTTCTTCTTCTTCTTC to ACTTCTTCTTCTTCTTCTTC at 56781176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030140 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030140]
AlphaFold Q7TT37
Predicted Effect probably benign
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: ENSMUST00000126441
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.5%
Validation Efficiency 97% (75/77)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,468,198 (GRCm39) I141K probably damaging Het
Adgrb1 A G 15: 74,459,978 (GRCm39) E537G probably damaging Het
Asic3 C T 5: 24,620,895 (GRCm39) A259V probably damaging Het
Bcar1 G A 8: 112,447,552 (GRCm39) Q142* probably null Het
Bcas3 T C 11: 85,400,294 (GRCm39) V200A probably damaging Het
Cd302 A T 2: 60,102,493 (GRCm39) I42N probably benign Het
Colec12 C A 18: 9,848,984 (GRCm39) N387K probably damaging Het
Copa T A 1: 171,946,888 (GRCm39) I1032N probably damaging Het
D630003M21Rik G C 2: 158,038,059 (GRCm39) T1129S probably benign Het
D630045J12Rik G A 6: 38,171,420 (GRCm39) T916I possibly damaging Het
Dnajb13 C T 7: 100,153,199 (GRCm39) A241T probably damaging Het
Dyrk4 G T 6: 126,862,300 (GRCm39) N397K possibly damaging Het
Eftud2 T A 11: 102,761,003 (GRCm39) Y114F probably benign Het
Epm2a A G 10: 11,266,597 (GRCm39) D114G probably benign Het
Exoc5 T C 14: 49,286,357 (GRCm39) probably null Het
Fam135a G A 1: 24,068,241 (GRCm39) T706I probably benign Het
Fasn A G 11: 120,702,121 (GRCm39) V1845A probably benign Het
Fscn3 A G 6: 28,430,595 (GRCm39) E255G probably damaging Het
Galnt7 A T 8: 57,998,397 (GRCm39) Y311N probably damaging Het
Grid1 T C 14: 34,544,579 (GRCm39) L50P probably damaging Het
Hepacam2 A G 6: 3,475,933 (GRCm39) F331L probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif1a T C 1: 92,953,449 (GRCm39) Y1245C probably damaging Het
Ltbp3 T C 19: 5,806,707 (GRCm39) F1022L probably damaging Het
Med16 G T 10: 79,735,951 (GRCm39) T399N probably damaging Het
Mfsd14a A T 3: 116,439,155 (GRCm39) probably benign Het
Myh7b G A 2: 155,465,186 (GRCm39) V681I probably benign Het
Ndc1 A G 4: 107,247,419 (GRCm39) E409G probably benign Het
Necap2 A G 4: 140,798,912 (GRCm39) probably benign Het
Or2a57 T A 6: 43,212,629 (GRCm39) L29H probably damaging Het
Or4p21 A T 2: 88,276,691 (GRCm39) M197K probably benign Het
Or7g29 C T 9: 19,286,841 (GRCm39) S112N probably benign Het
Parp12 G A 6: 39,094,744 (GRCm39) T117I probably benign Het
Pars2 C A 4: 106,511,407 (GRCm39) C396* probably null Het
Prg4 A T 1: 150,330,297 (GRCm39) probably benign Het
Prkg2 G A 5: 99,114,492 (GRCm39) T523I probably damaging Het
Prph T A 15: 98,955,308 (GRCm39) L425Q probably damaging Het
Ranbp9 A G 13: 43,567,552 (GRCm39) Y549H probably damaging Het
Rbm12 A T 2: 155,937,489 (GRCm39) probably benign Het
Reln T C 5: 22,549,183 (GRCm39) Y75C probably damaging Het
Rock2 G A 12: 16,990,408 (GRCm39) R110H probably damaging Het
Samd1 G A 8: 84,726,346 (GRCm39) E468K probably damaging Het
Samd11 T A 4: 156,333,922 (GRCm39) Q173L probably damaging Het
Scgb2b20 C A 7: 33,065,151 (GRCm39) G37V probably damaging Het
Sf1 C A 19: 6,425,694 (GRCm39) probably benign Het
Slc17a5 T A 9: 78,481,997 (GRCm39) H183L probably damaging Het
Slco1a7 A G 6: 141,713,288 (GRCm39) V31A probably benign Het
Smgc T A 15: 91,725,657 (GRCm39) S13T probably benign Het
Snapin A G 3: 90,398,092 (GRCm39) probably benign Het
Spata31e4 C G 13: 50,857,275 (GRCm39) P971R probably benign Het
Ssc5d C T 7: 4,946,744 (GRCm39) P1033S probably benign Het
Strn3 T C 12: 51,696,954 (GRCm39) E259G probably benign Het
Tbc1d32 A G 10: 56,072,932 (GRCm39) F238L possibly damaging Het
Tbck G A 3: 132,392,729 (GRCm39) V57M possibly damaging Het
Tgm3 A G 2: 129,883,875 (GRCm39) D511G probably benign Het
Tlr5 T C 1: 182,801,461 (GRCm39) V241A probably benign Het
Tmem181c-ps A G 17: 6,887,754 (GRCm39) noncoding transcript Het
Tnfrsf1a G A 6: 125,335,047 (GRCm39) C168Y probably damaging Het
Tph2 G T 10: 115,018,675 (GRCm39) L79I possibly damaging Het
Tsc1 G A 2: 28,551,702 (GRCm39) probably null Het
Ttc14 A T 3: 33,857,298 (GRCm39) M215L probably benign Het
Ube3c A G 5: 29,802,083 (GRCm39) N120S probably benign Het
Ubr2 A T 17: 47,241,371 (GRCm39) W1728R probably damaging Het
Vnn1 A G 10: 23,776,602 (GRCm39) T318A probably benign Het
Washc2 T C 6: 116,235,610 (GRCm39) V941A probably benign Het
Wdfy3 A G 5: 102,091,809 (GRCm39) V510A probably damaging Het
Wdsub1 A T 2: 59,693,188 (GRCm39) V272E possibly damaging Het
Xylt1 A C 7: 117,236,862 (GRCm39) D537A probably benign Het
Zfp57 A G 17: 37,321,022 (GRCm39) N292S possibly 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
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
Predicted Primers PCR Primer
(F):5'- CCTGCACAATGTGTAACTGCATT -3'
(R):5'- ACAAATATTGTTTTGGAGGGTTCTGG -3'

Sequencing Primer
(F):5'- CTGCATTTCCATTCAACAAACTG -3'
(R):5'- TCAGCCATGTCTTATGCAGAGGAC -3'
Posted On 2016-02-04