Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02822:Elp1'

361073

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 #

IGL02822

Quality Score

Status

Chromosome

Chromosomal Location

56749680-56802331 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 56774520 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 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140595

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	T	C	16: 88,971,683 (GRCm39)	C2R	unknown	Het
Aldh1a7	A	G	19: 20,679,630 (GRCm39)	V382A	possibly damaging	Het
Asap2	T	C	12: 21,315,911 (GRCm39)	V943A	probably damaging	Het
Bod1l	C	T	5: 41,951,688 (GRCm39)	V2908M	possibly damaging	Het
Casd1	C	T	6: 4,630,017 (GRCm39)	T471I	probably damaging	Het
Cd200l1	T	C	16: 45,262,968 (GRCm39)	Y57C	probably damaging	Het
Col20a1	T	C	2: 180,638,600 (GRCm39)	Y405H	probably damaging	Het
Evi5l	T	C	8: 4,237,248 (GRCm39)	I117T	probably damaging	Het
Fbxw5	A	G	2: 25,393,022 (GRCm39)	N164S	probably benign	Het
Fga	A	G	3: 82,938,789 (GRCm39)	E388G	probably damaging	Het
Fgfr1	A	G	8: 26,047,818 (GRCm39)	T55A	probably benign	Het
Gdpd4	T	C	7: 97,621,131 (GRCm39)	V148A	possibly damaging	Het
Gsap	T	A	5: 21,422,442 (GRCm39)	V137D	probably damaging	Het
Hsdl2	A	G	4: 59,601,379 (GRCm39)	H117R	possibly damaging	Het
Htr4	T	A	18: 62,561,255 (GRCm39)		probably benign	Het
Ifitm1	T	C	7: 140,548,191 (GRCm39)	V8A	possibly damaging	Het
Kdelr1	A	G	7: 45,523,288 (GRCm39)		probably benign	Het
Klra6	G	T	6: 129,993,673 (GRCm39)	Y199*	probably null	Het
Matcap1	T	C	8: 106,011,330 (GRCm39)	Y268C	probably damaging	Het
Mmp21	C	T	7: 133,277,828 (GRCm39)	D333N	possibly damaging	Het
Mocs1	T	C	17: 49,746,597 (GRCm39)	F189S	probably damaging	Het
Myo18b	C	T	5: 112,923,211 (GRCm39)	A1849T	probably damaging	Het
Naca	C	A	10: 127,875,214 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,926,868 (GRCm39)	H778Q	possibly damaging	Het
Nlrp4c	C	T	7: 6,068,726 (GRCm39)	P209L	probably damaging	Het
Or10q1b	A	G	19: 13,683,019 (GRCm39)	D276G	probably benign	Het
Or14j1	T	C	17: 38,146,534 (GRCm39)	Y215H	possibly damaging	Het
Or4a81	A	G	2: 89,619,444 (GRCm39)	L84P	possibly damaging	Het
Osbpl9	A	G	4: 108,930,118 (GRCm39)	S258P	probably damaging	Het
Pclaf	A	G	9: 65,808,875 (GRCm39)	E108G	possibly damaging	Het
Pira13	T	A	7: 3,819,917 (GRCm39)	T549S	possibly damaging	Het
Pla2r1	C	A	2: 60,285,517 (GRCm39)	C699F	probably damaging	Het
Pnkp	A	G	7: 44,511,848 (GRCm39)	Y120C	probably damaging	Het
Psme4	T	A	11: 30,798,204 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,587,606 (GRCm39)	S720P	probably damaging	Het
Rasa1	T	C	13: 85,400,633 (GRCm39)	H301R	probably damaging	Het
Spg11	C	A	2: 121,905,015 (GRCm39)	W1316L	probably damaging	Het
Ube2t	C	T	1: 134,901,688 (GRCm39)		probably benign	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	probably benign	Het

Other mutations in Elp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-12-18