Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01060:Elp1'

50825

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 #

IGL01060

Quality Score

Status

Chromosome

Chromosomal Location

56749680-56802331 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 56784537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030140] [ENSMUST00000030140]

AlphaFold

Q7TT37

Predicted Effect

probably null
Transcript: ENSMUST00000030140

SMART Domains

Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431

Domain	Start	End	E-Value	Type
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

probably null
Transcript: ENSMUST00000030140

SMART Domains

Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431

Domain	Start	End	E-Value	Type
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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Anks4b	A	G	7: 119,773,148 (GRCm39)	T3A	possibly damaging	Het
Arhgef26	T	A	3: 62,247,542 (GRCm39)	S209T	probably benign	Het
Ccdc78	A	G	17: 26,007,806 (GRCm39)	D281G	probably damaging	Het
Ccnb3	A	T	X: 6,846,513 (GRCm39)	N1362K	probably benign	Het
Dnah2	T	C	11: 69,368,918 (GRCm39)	N1662S	possibly damaging	Het
Ern2	T	A	7: 121,769,315 (GRCm39)	R904W	probably damaging	Het
Fam120c	C	T	X: 150,252,583 (GRCm39)	P1045S	probably benign	Het
Gm12887	C	T	4: 121,473,610 (GRCm39)		probably benign	Het
Gpld1	G	A	13: 25,166,549 (GRCm39)	G627S	probably damaging	Het
Krt77	T	A	15: 101,769,315 (GRCm39)		probably benign	Het
Ltf	A	T	9: 110,851,950 (GRCm39)		probably null	Het
Map3k6	G	T	4: 132,974,613 (GRCm39)		probably null	Het
Nsd1	G	A	13: 55,411,242 (GRCm39)	G1431D	probably damaging	Het
Plekhm2	C	T	4: 141,369,956 (GRCm39)		probably null	Het
Popdc2	T	A	16: 38,194,327 (GRCm39)	N249K	probably damaging	Het
Ppm1h	A	G	10: 122,743,476 (GRCm39)	D400G	possibly damaging	Het
Rps6ka1	A	T	4: 133,588,181 (GRCm39)	S320T	probably damaging	Het
Rsph6a	C	T	7: 18,788,793 (GRCm39)	R42*	probably null	Het
Sap130	T	C	18: 31,848,496 (GRCm39)	L967P	probably damaging	Het
Smyd2	T	C	1: 189,629,667 (GRCm39)	E121G	possibly damaging	Het
Sspo	G	A	6: 48,426,413 (GRCm39)	W144*	probably null	Het
Taar6	A	G	10: 23,860,970 (GRCm39)	V192A	probably benign	Het
Tbc1d24	A	T	17: 24,404,802 (GRCm39)	V114E	probably damaging	Het
Trim16	T	C	11: 62,711,530 (GRCm39)	I67T	probably benign	Het
Ttll7	A	G	3: 146,615,337 (GRCm39)	D267G	possibly damaging	Het
Ttn	T	C	2: 76,720,073 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,447,016 (GRCm39)	I379F	probably damaging	Het
Zfp14	T	C	7: 29,737,510 (GRCm39)	T492A	probably damaging	Het

Other mutations in Elp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21