Mutagenetix > Incidental Mutation

Incidental Mutation 'R2325:Elp1'

244875

Institutional Source

Beutler Lab

Gene Symbol

Elp1

Ensembl Gene

ENSMUSG00000028431

Gene Name

elongator complex protein 1

Synonyms

Ikbkap, C78473, 3110040G09Rik, IKAP

MMRRC Submission

040316-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2325 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56749680-56802331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56784622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 457 (M457K)

Ref Sequence

ENSEMBL: ENSMUSP00000030140 (fasta)

Gene Model

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

AlphaFold

Q7TT37

Predicted Effect

probably benign
Transcript: ENSMUST00000030140
AA Change: M457K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431
AA Change: M457K

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

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	C	13: 4,573,295 (GRCm39)	T7A	probably benign	Het
Atoh7	C	A	10: 62,935,924 (GRCm39)		probably benign	Het
Atp2b1	C	T	10: 98,854,757 (GRCm39)	Q219*	probably null	Het
B3galt2	A	G	1: 143,522,926 (GRCm39)	D354G	probably benign	Het
Cdh9	A	G	15: 16,778,286 (GRCm39)	R34G	probably benign	Het
Cyp4x1	A	T	4: 114,981,576 (GRCm39)	C126S	probably benign	Het
Dse	A	T	10: 34,060,043 (GRCm39)	S21T	probably benign	Het
Ell2	T	A	13: 75,917,745 (GRCm39)	H558Q	probably damaging	Het
Esco2	A	T	14: 66,064,027 (GRCm39)		probably null	Het
Fam170a	A	G	18: 50,414,917 (GRCm39)	K188E	possibly damaging	Het
Gin1	A	C	1: 97,720,286 (GRCm39)	Y516S	probably damaging	Het
Gm8439	A	G	4: 120,446,048 (GRCm39)	E16G	unknown	Het
Gtf2b	A	G	3: 142,485,851 (GRCm39)	T176A	probably damaging	Het
Kcnh6	C	T	11: 105,924,661 (GRCm39)	S822F	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lrp8	A	T	4: 107,721,206 (GRCm39)	D602V	probably benign	Het
Med12l	A	G	3: 59,139,875 (GRCm39)	T817A	probably damaging	Het
Mroh9	A	C	1: 162,854,099 (GRCm39)		probably null	Het
N4bp1	T	C	8: 87,575,088 (GRCm39)	I736V	probably damaging	Het
Nebl	T	C	2: 17,397,827 (GRCm39)	K490E	possibly damaging	Het
P2ry1	A	T	3: 60,910,999 (GRCm39)	K46M	probably damaging	Het
Ppp1r37	A	T	7: 19,266,609 (GRCm39)	L426H	probably damaging	Het
Prkci	T	A	3: 31,085,217 (GRCm39)		probably null	Het
Prss35	G	A	9: 86,638,357 (GRCm39)	G376R	probably damaging	Het
Scube2	C	G	7: 109,443,161 (GRCm39)	C226S	probably damaging	Het
Slc26a5	T	G	5: 22,024,692 (GRCm39)	Y469S	probably damaging	Het
Stil	T	A	4: 114,889,904 (GRCm39)	D797E	probably benign	Het
Thbs2	A	T	17: 14,910,551 (GRCm39)		probably null	Het
Tmem132e	C	A	11: 82,325,341 (GRCm39)	L114M	probably damaging	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Vmn1r173	T	A	7: 23,402,537 (GRCm39)	C257*	probably null	Het
Zc3h15	G	A	2: 83,483,783 (GRCm39)	G53S	probably damaging	Het
Zfp462	A	C	4: 55,013,712 (GRCm39)	I1893L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCCAGAAATAAAGGCTGC -3'
(R):5'- TAGTGTGGGGAAGACAGTCC -3'

Sequencing Primer
(F):5'- GGCTGCATGAATCCAGGAC -3'
(R):5'- CAGGTTTTGATTGAGCCTGAAAAG -3'

Posted On

2014-10-30