Mutagenetix > Incidental Mutation

Incidental Mutation 'R0308:Elk3'

24984

Institutional Source

Beutler Lab

Gene Symbol

Elk3

Ensembl Gene

ENSMUSG00000008398

Gene Name

ELK3, member of ETS oncogene family

Synonyms

Sap-2, Net, D430049E23Rik, Erp

MMRRC Submission

038518-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

R0308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93083276-93146997 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93101067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 228 (M228K)

Ref Sequence

ENSEMBL: ENSMUSP00000008542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008542] [ENSMUST00000129827] [ENSMUST00000151153] [ENSMUST00000215286] [ENSMUST00000223340]

AlphaFold

P41971

Predicted Effect

probably benign
Transcript: ENSMUST00000008542
AA Change: M228K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000008542
Gene: ENSMUSG00000008398
AA Change: M228K

Domain	Start	End	E-Value	Type
ETS	4	89	1.56e-55	SMART
low complexity region	200	222	N/A	INTRINSIC
low complexity region	229	256	N/A	INTRINSIC
low complexity region	278	299	N/A	INTRINSIC
low complexity region	356	367	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129827

SMART Domains

Protein: ENSMUSP00000122324
Gene: ENSMUSG00000008398

Domain	Start	End	E-Value	Type
ETS	4	89	1.56e-55	SMART
low complexity region	200	217	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151153

SMART Domains

Protein: ENSMUSP00000121754
Gene: ENSMUSG00000008398

Domain	Start	End	E-Value	Type
ETS	4	80	7.6e-36	SMART
low complexity region	89	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215286

Predicted Effect

probably benign
Transcript: ENSMUST00000216729

Predicted Effect

probably benign
Transcript: ENSMUST00000223340

Meta Mutation Damage Score

0.0645

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (82/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygotes for a null allele develop a vascular defect associated with lymphangiectasis and die prematurely due to respiratory failure resulting from chylothorax. Homozygotes for a different null allele show a transient delay in retinal primary plexus vascularization and tortuous retinal arteries. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,989 (GRCm39)	D65V	probably damaging	Het
4933407L21Rik	A	T	1: 85,859,007 (GRCm39)		probably benign	Het
Abcc12	C	T	8: 87,284,381 (GRCm39)		probably benign	Het
Adamts12	A	G	15: 11,311,646 (GRCm39)	E1301G	probably damaging	Het
Adh4	A	T	3: 138,129,863 (GRCm39)	N230Y	probably damaging	Het
Anapc15-ps	T	A	10: 95,508,954 (GRCm39)	M109L	probably benign	Het
Angpt2	T	C	8: 18,742,141 (GRCm39)	I472V	possibly damaging	Het
Arhgef26	C	A	3: 62,247,820 (GRCm39)	D301E	probably benign	Het
Armc10	G	A	5: 21,852,295 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,365,773 (GRCm39)		probably null	Het
Atp5f1b	T	C	10: 127,921,908 (GRCm39)	V265A	probably benign	Het
Atp8b1	G	T	18: 64,678,315 (GRCm39)	C860*	probably null	Het
Atrnl1	T	G	19: 57,741,720 (GRCm39)	S1160A	probably benign	Het
Bmal1	A	T	7: 112,890,743 (GRCm39)	I179F	probably damaging	Het
Cep55	A	G	19: 38,048,659 (GRCm39)	E105G	possibly damaging	Het
Cfap54	C	A	10: 92,721,226 (GRCm39)	D2502Y	unknown	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Clptm1l	A	G	13: 73,759,786 (GRCm39)	D282G	possibly damaging	Het
Csrp1	C	A	1: 135,673,024 (GRCm39)	T47N	probably damaging	Het
Cyp2c40	T	A	19: 39,766,432 (GRCm39)	I388F	probably damaging	Het
Dars1	C	T	1: 128,291,996 (GRCm39)	R494H	probably damaging	Het
Dna2	T	C	10: 62,792,753 (GRCm39)	V256A	probably damaging	Het
Dock7	T	C	4: 98,873,051 (GRCm39)	T1132A	probably benign	Het
Dpcd	T	G	19: 45,565,445 (GRCm39)	F140V	probably damaging	Het
Erich6	A	G	3: 58,543,525 (GRCm39)	F182L	probably damaging	Het
Fhad1	A	G	4: 141,712,904 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,198,947 (GRCm39)		probably benign	Het
Fzd9	A	T	5: 135,278,260 (GRCm39)	C542S	probably damaging	Het
Gba1	A	G	3: 89,115,671 (GRCm39)	T460A	probably benign	Het
Gli2	C	T	1: 118,769,792 (GRCm39)	A587T	probably benign	Het
Gm11011	C	T	2: 169,424,614 (GRCm39)		probably benign	Het
Gmppb	A	G	9: 107,927,033 (GRCm39)	E68G	probably benign	Het
Gpld1	A	G	13: 25,146,818 (GRCm39)	N260S	possibly damaging	Het
Hipk3	G	A	2: 104,263,552 (GRCm39)	S900L	probably damaging	Het
Idi2l	T	G	13: 8,990,877 (GRCm39)		probably benign	Het
Ints6l	A	T	X: 55,526,715 (GRCm39)	M215L	possibly damaging	Het
Irx6	T	A	8: 93,403,659 (GRCm39)	L128Q	probably damaging	Het
Itga10	T	C	3: 96,558,780 (GRCm39)	S373P	probably damaging	Het
Jak1	T	C	4: 101,011,732 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,289,157 (GRCm39)	T1103I	probably benign	Het
Katnal1	A	T	5: 148,815,734 (GRCm39)	V401D	possibly damaging	Het
Krbox5	A	G	13: 67,991,232 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,313,326 (GRCm39)		probably benign	Het
Map3k13	A	G	16: 21,710,738 (GRCm39)	H7R	probably benign	Het
Mrgprx3-ps	A	G	7: 46,959,766 (GRCm39)	V75A	probably benign	Het
Nol6	C	T	4: 41,123,584 (GRCm39)	A55T	probably benign	Het
Opa1	G	A	16: 29,440,349 (GRCm39)	R818Q	probably damaging	Het
Opn4	T	C	14: 34,319,081 (GRCm39)	Y168C	possibly damaging	Het
Or8b35	A	G	9: 37,904,141 (GRCm39)	I118V	probably benign	Het
Phf21a	T	C	2: 92,161,122 (GRCm39)	V330A	possibly damaging	Het
Phykpl	A	G	11: 51,484,423 (GRCm39)		probably benign	Het
Plcb1	T	G	2: 134,655,534 (GRCm39)	V38G	probably benign	Het
Plxna4	T	A	6: 32,214,703 (GRCm39)	T593S	probably benign	Het
Poll	A	T	19: 45,544,404 (GRCm39)	I339N	probably damaging	Het
Rev3l	A	G	10: 39,700,890 (GRCm39)	I1796V	probably benign	Het
Rnf103	G	A	6: 71,486,686 (GRCm39)	R439H	probably damaging	Het
Rrn3	G	A	16: 13,617,746 (GRCm39)		probably benign	Het
Sec14l4	G	A	11: 3,991,726 (GRCm39)		probably benign	Het
Sec23a	A	C	12: 59,053,985 (GRCm39)	Y4*	probably null	Het
Senp6	T	C	9: 80,040,265 (GRCm39)		probably null	Het
Serpinb6b	A	T	13: 33,162,220 (GRCm39)	N221Y	probably benign	Het
Slc6a2	A	G	8: 93,687,988 (GRCm39)	E38G	possibly damaging	Het
Smap1	A	T	1: 23,888,423 (GRCm39)	L196I	probably damaging	Het
Sorbs2	C	T	8: 46,248,167 (GRCm39)	Q473*	probably null	Het
Sphkap	C	A	1: 83,254,690 (GRCm39)	V1020F	probably damaging	Het
Srfbp1	T	C	18: 52,621,614 (GRCm39)	V225A	probably benign	Het
Srprb	G	A	9: 103,079,204 (GRCm39)	P728S	possibly damaging	Het
Tarm1	T	C	7: 3,545,187 (GRCm39)		probably benign	Het
Tcp1	T	A	17: 13,139,306 (GRCm39)	I162N	probably benign	Het
Tmem237	C	A	1: 59,146,676 (GRCm39)	A292S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnpo1	A	G	13: 98,983,011 (GRCm39)	F884L	probably damaging	Het
Trim7	A	G	11: 48,740,328 (GRCm39)	T142A	probably damaging	Het
Ttn	T	A	2: 76,616,024 (GRCm39)	I14894F	probably damaging	Het
Tubgcp6	T	C	15: 89,006,639 (GRCm39)	R128G	possibly damaging	Het
Ube2d2b	A	G	5: 107,978,774 (GRCm39)	T142A	possibly damaging	Het
Unc13c	G	T	9: 73,388,400 (GRCm39)	L2129I	probably benign	Het
Ushbp1	T	C	8: 71,843,697 (GRCm39)	D247G	probably damaging	Het
Usp43	G	A	11: 67,770,966 (GRCm39)	A556V	probably damaging	Het
Zfp438	T	A	18: 5,213,638 (GRCm39)	H440L	probably benign	Het
Zfp518b	C	T	5: 38,830,113 (GRCm39)	E631K	possibly damaging	Het

Other mutations in Elk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Elk3	APN	10	93,120,689 (GRCm39)	missense	probably damaging	1.00
IGL02566:Elk3	APN	10	93,101,325 (GRCm39)	missense	probably damaging	1.00
IGL03251:Elk3	APN	10	93,090,683 (GRCm39)	splice site	probably null
R0594:Elk3	UTSW	10	93,101,022 (GRCm39)	missense	probably damaging	1.00
R0601:Elk3	UTSW	10	93,101,343 (GRCm39)	missense	probably damaging	0.98
R1190:Elk3	UTSW	10	93,101,058 (GRCm39)	missense	probably benign	0.00
R2021:Elk3	UTSW	10	93,101,539 (GRCm39)	missense	probably damaging	1.00
R2022:Elk3	UTSW	10	93,101,539 (GRCm39)	missense	probably damaging	1.00
R2418:Elk3	UTSW	10	93,120,689 (GRCm39)	missense	probably damaging	1.00
R3935:Elk3	UTSW	10	93,101,035 (GRCm39)	missense	possibly damaging	0.60
R4167:Elk3	UTSW	10	93,101,197 (GRCm39)	critical splice donor site	probably null
R4168:Elk3	UTSW	10	93,101,197 (GRCm39)	critical splice donor site	probably null
R4169:Elk3	UTSW	10	93,101,197 (GRCm39)	critical splice donor site	probably null
R4170:Elk3	UTSW	10	93,101,197 (GRCm39)	critical splice donor site	probably null
R5864:Elk3	UTSW	10	93,120,653 (GRCm39)	missense	probably damaging	1.00
R6171:Elk3	UTSW	10	93,085,906 (GRCm39)	missense	probably damaging	1.00
R6743:Elk3	UTSW	10	93,100,912 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TTGGAGCCCGATGACAGATTCAGG -3'
(R):5'- TGTCCTCTCTCAAAAGTGCCAGCC -3'

Sequencing Primer
(F):5'- GGGCTCCAGAGAATCCGAG -3'
(R):5'- TTCAAGGCCATCAAGACGG -3'

Posted On

2013-04-16