Mutagenetix > Incidental Mutation

Incidental Mutation 'R9562:Elp1'

721061

Institutional Source

Beutler Lab

Gene Symbol

Elp1

Ensembl Gene

ENSMUSG00000028431

Gene Name

elongator complex protein 1

Synonyms

Ikbkap, C78473, 3110040G09Rik, IKAP

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9562 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56749680-56802331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 56772521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 867 (P867T)

Ref Sequence

ENSEMBL: ENSMUSP00000030140 (fasta)

Gene Model

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

AlphaFold

Q7TT37

Predicted Effect

probably benign
Transcript: ENSMUST00000030140
AA Change: P867T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431
AA Change: P867T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	A	5: 114,371,397 (GRCm39)	P1842Q	probably damaging	Het
Aco2	G	A	15: 81,773,635 (GRCm39)	R58Q	probably null	Het
Acvr1	T	C	2: 58,338,385 (GRCm39)	K446E	probably damaging	Het
Adam39	T	C	8: 41,277,755 (GRCm39)	Y49H	probably benign	Het
Afg3l2	C	T	18: 67,554,365 (GRCm39)	V446M	probably damaging	Het
Aire	A	G	10: 77,871,579 (GRCm39)	V397A	probably benign	Het
Ankdd1a	C	T	9: 65,411,452 (GRCm39)	A352T	possibly damaging	Het
Aoc1l2	T	C	6: 48,907,909 (GRCm39)	M303T	probably benign	Het
Arfip2	T	C	7: 105,286,079 (GRCm39)	D270G	possibly damaging	Het
Arl4c	A	G	1: 88,629,134 (GRCm39)	C85R	probably damaging	Het
Arpp21	A	C	9: 111,956,354 (GRCm39)	V541G	possibly damaging	Het
Atp2a3	T	A	11: 72,873,578 (GRCm39)	M817K	probably damaging	Het
Bahcc1	C	T	11: 120,150,035 (GRCm39)	H106Y	possibly damaging	Het
Bcl9l	A	G	9: 44,412,076 (GRCm39)	S21G	possibly damaging	Het
C7	T	A	15: 5,086,579 (GRCm39)		probably null	Het
Cabcoco1	T	C	10: 68,272,725 (GRCm39)	D220G	possibly damaging	Het
Cacna1e	T	A	1: 154,283,486 (GRCm39)	D1960V	probably benign	Het
Casp4	A	T	9: 5,324,832 (GRCm39)	T215S	probably damaging	Het
Ccdc187	T	C	2: 26,183,698 (GRCm39)	S101G	possibly damaging	Het
Cdk12	A	G	11: 98,140,628 (GRCm39)	N1290D	unknown	Het
Cdo1	C	A	18: 46,861,104 (GRCm39)	V36L	probably benign	Het
Col5a3	G	A	9: 20,714,429 (GRCm39)	A381V	unknown	Het
Cspg4b	T	C	13: 113,504,574 (GRCm39)	I1901T		Het
Dcpp2	A	G	17: 24,119,453 (GRCm39)	E89G	probably damaging	Het
Dhx57	G	T	17: 80,561,817 (GRCm39)	A899E	probably damaging	Het
Dnaaf1	T	C	8: 120,309,392 (GRCm39)	I160T	probably damaging	Het
Dnah1	C	A	14: 30,986,394 (GRCm39)	A3698S	probably damaging	Het
Dnah12	C	A	14: 26,597,281 (GRCm39)	R3547S	possibly damaging	Het
Dnah3	A	G	7: 119,610,114 (GRCm39)	V1774A	probably benign	Het
Dop1a	G	A	9: 86,424,811 (GRCm39)	R2085Q	probably damaging	Het
Duox1	T	C	2: 122,151,203 (GRCm39)	Y293H	probably damaging	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Epas1	T	A	17: 87,112,667 (GRCm39)	D88E	probably damaging	Het
Epdr1	A	G	13: 19,778,821 (GRCm39)	F92L	possibly damaging	Het
Ercc6	T	C	14: 32,296,924 (GRCm39)	W1305R	probably damaging	Het
Etv6	A	G	6: 134,225,672 (GRCm39)	N212S	probably benign	Het
Fam20b	A	T	1: 156,530,010 (GRCm39)	Y141*	probably null	Het
Fancm	A	G	12: 65,168,494 (GRCm39)	N1619S	probably damaging	Het
Fbln5	A	T	12: 101,734,722 (GRCm39)	N183K	probably damaging	Het
Fer1l6	A	G	15: 58,490,370 (GRCm39)	D976G	possibly damaging	Het
Fgb	T	C	3: 82,952,409 (GRCm39)		probably null	Het
Fhod1	A	T	8: 106,074,422 (GRCm39)	Y22N	unknown	Het
Foxl3	C	A	5: 138,807,213 (GRCm39)	Q164K	probably benign	Het
Galm	C	T	17: 80,490,859 (GRCm39)	Q166*	probably null	Het
Gbe1	A	T	16: 70,198,664 (GRCm39)	Y119F	probably benign	Het
Gcnt7	T	A	2: 172,293,180 (GRCm39)	Y369F	probably damaging	Het
Gdap2	T	C	3: 100,099,006 (GRCm39)	I366T	possibly damaging	Het
Gm14295	T	C	2: 176,499,162 (GRCm39)	V4A	probably benign	Het
Gm32742	T	A	9: 51,068,327 (GRCm39)	Y249F	probably benign	Het
Gm40460	A	T	7: 141,794,701 (GRCm39)	C39S	unknown	Het
Gm6370	T	A	5: 146,429,281 (GRCm39)	C120*	probably null	Het
Harbi1	T	A	2: 91,542,698 (GRCm39)	L53*	probably null	Het
Herc3	A	G	6: 58,835,999 (GRCm39)	N280S	probably null	Het
Hipk2	T	A	6: 38,724,390 (GRCm39)	R447W	probably damaging	Het
Hydin	A	G	8: 111,312,786 (GRCm39)	I4176V	probably benign	Het
Ifi211	A	T	1: 173,733,052 (GRCm39)	I203N	probably benign	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Kcng1	T	A	2: 168,104,797 (GRCm39)	I350F	probably damaging	Het
Kif21b	A	T	1: 136,077,090 (GRCm39)	I371F	probably damaging	Het
Klrc1	A	G	6: 129,655,746 (GRCm39)	F43S	probably damaging	Het
Krtap6-2	A	G	16: 89,216,722 (GRCm39)	S82P	unknown	Het
Lamb1	T	A	12: 31,322,492 (GRCm39)	M186K	probably damaging	Het
Lrig2	T	C	3: 104,375,924 (GRCm39)	K451E	possibly damaging	Het
Lrrc15	G	A	16: 30,093,016 (GRCm39)	L108F	probably damaging	Het
Mark3	A	G	12: 111,570,960 (GRCm39)	I87V	probably damaging	Het
Mlh1	T	C	9: 111,060,013 (GRCm39)	K622E		Het
Mrgprb2	G	A	7: 48,202,674 (GRCm39)	T17M	possibly damaging	Het
Msantd5f4	G	T	4: 73,557,190 (GRCm39)	V8F	probably damaging	Het
Mtmr4	C	T	11: 87,493,241 (GRCm39)	R225C	probably damaging	Het
Nfatc1	A	G	18: 80,678,916 (GRCm39)	L824P	probably damaging	Het
Nlrp4f	A	T	13: 65,347,053 (GRCm39)	D46E	probably damaging	Het
Oga	CTCGGGTC	CTC	19: 45,743,096 (GRCm39)		probably null	Het
Or10h5	G	T	17: 33,434,415 (GRCm39)	T301N	probably benign	Het
Or13n4	A	C	7: 106,423,020 (GRCm39)	F238V	probably damaging	Het
Or1l4	G	T	2: 37,091,575 (GRCm39)	M107I	probably benign	Het
Or2w25	T	A	11: 59,504,580 (GRCm39)	N263K	probably damaging	Het
Or6z7	G	C	7: 6,483,243 (GRCm39)	A304G	probably null	Het
Or7e173	T	A	9: 19,939,045 (GRCm39)	Y63F	probably damaging	Het
Or8b1	G	T	9: 38,400,092 (GRCm39)	A256S	possibly damaging	Het
Otulin	A	G	15: 27,608,812 (GRCm39)	Y244H	probably damaging	Het
Pabpc4	T	C	4: 123,180,653 (GRCm39)	I125T	probably damaging	Het
Parp14	A	G	16: 35,677,775 (GRCm39)	I731T	probably benign	Het
Parp8	T	C	13: 117,029,631 (GRCm39)	T531A	probably benign	Het
Parvg	G	T	15: 84,213,065 (GRCm39)	V49L	probably benign	Het
Pcdha12	T	C	18: 37,155,284 (GRCm39)	S668P	probably damaging	Het
Pcdhb9	A	C	18: 37,534,665 (GRCm39)	N220H	probably benign	Het
Pcdhga4	T	G	18: 37,819,527 (GRCm39)	S359A	probably benign	Het
Pi4k2b	T	A	5: 52,908,799 (GRCm39)	S208R	probably damaging	Het
Plxnb2	T	C	15: 89,050,136 (GRCm39)	Y487C	probably damaging	Het
Pm20d1	G	A	1: 131,730,501 (GRCm39)	V252I	probably damaging	Het
Pxdc1	T	A	13: 34,836,258 (GRCm39)	H54L	probably damaging	Het
Rag1	A	T	2: 101,473,327 (GRCm39)	V605E	probably damaging	Het
Rasgrf2	A	T	13: 92,034,469 (GRCm39)		probably null	Het
Relch	T	C	1: 105,591,876 (GRCm39)	V15A	probably damaging	Het
Rflnb	T	A	11: 75,912,951 (GRCm39)	T146S	probably damaging	Het
Rfx5	T	A	3: 94,866,639 (GRCm39)	L646Q	unknown	Het
Rnf43	A	G	11: 87,618,891 (GRCm39)	T81A	probably benign	Het
Ros1	T	C	10: 51,943,170 (GRCm39)	D2048G	probably damaging	Het
Rpl13a-ps1	T	A	19: 50,018,612 (GRCm39)	K188I	possibly damaging	Het
Rpl24	T	A	16: 55,790,509 (GRCm39)	S122T	probably benign	Het
Ryr2	G	A	13: 11,760,104 (GRCm39)	T1549M	probably damaging	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Sec23a	A	T	12: 59,048,817 (GRCm39)	F131I	possibly damaging	Het
Secisbp2	T	C	13: 51,837,320 (GRCm39)	I827T	probably damaging	Het
Serpinb6d	A	G	13: 33,854,756 (GRCm39)	R244G	probably benign	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Snx17	C	A	5: 31,355,088 (GRCm39)	Q368K	probably damaging	Het
Stac	T	A	9: 111,401,411 (GRCm39)	E345V	probably benign	Het
Stx4a	A	G	7: 127,445,375 (GRCm39)	N164S	possibly damaging	Het
Tasor	T	C	14: 27,201,766 (GRCm39)		probably null	Het
Tbcb	A	T	7: 29,930,549 (GRCm39)		probably null	Het
Tecpr2	T	C	12: 110,914,141 (GRCm39)	S1151P	possibly damaging	Het
Timm50	A	G	7: 28,007,069 (GRCm39)	F202S	possibly damaging	Het
Tle2	A	G	10: 81,417,567 (GRCm39)	D244G	probably benign	Het
Tlr4	G	A	4: 66,759,522 (GRCm39)	V772I	possibly damaging	Het
Tmem214	G	A	5: 31,027,043 (GRCm39)	W11*	probably null	Het
Tmem241	A	T	18: 12,176,356 (GRCm39)	L227*	probably null	Het
Top2b	A	C	14: 16,365,718 (GRCm38)	T14P	probably benign	Het
Trim44	T	C	2: 102,187,827 (GRCm39)	T309A	probably benign	Het
Trps1	A	C	15: 50,524,657 (GRCm39)	I1091S	probably damaging	Het
Tspan2	C	A	3: 102,672,583 (GRCm39)	T200K	probably damaging	Het
Tuba8	A	G	6: 121,200,063 (GRCm39)	N249S	probably benign	Het
Vmn1r189	A	G	13: 22,286,426 (GRCm39)	L137P	probably damaging	Het
Vmn2r29	A	T	7: 7,244,855 (GRCm39)	W340R	probably benign	Het
Vmn2r52	A	C	7: 9,893,476 (GRCm39)	D554E	probably benign	Het
Zc3h4	C	G	7: 16,168,891 (GRCm39)	P1075R	unknown	Het
Zfp599	A	G	9: 22,160,999 (GRCm39)	S389P	probably damaging	Het
Zfp777	A	T	6: 48,021,580 (GRCm39)	V14D	possibly damaging	Het
Zswim8	C	T	14: 20,762,150 (GRCm39)	Q262*	probably null	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
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
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'- ATGGTGCAAAAGTCTCAACTCC -3'
(R):5'- CTCCAAGTGACTCTGTTCTGATG -3'

Sequencing Primer
(F):5'- AAAGTCTCAACTCCACATACCTTTTG -3'
(R):5'- GGCCTCAGACTCACTATGTAGCTAG -3'

Posted On

2022-08-09