Mutagenetix > Incidental Mutation

Incidental Mutation 'R9067:Elk4'

689292

Institutional Source

Beutler Lab

Gene Symbol

Elk4

Ensembl Gene

ENSMUSG00000026436

Gene Name

ELK4, member of ETS oncogene family

Synonyms

Sap1, A130026I01Rik, 2310011G17Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

R9067 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131935129-131954186 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 131942143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 5 (I5S)

Ref Sequence

ENSEMBL: ENSMUSP00000027696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027696] [ENSMUST00000086556] [ENSMUST00000146432]

AlphaFold

P41158

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027696
AA Change: I5S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027696
Gene: ENSMUSG00000026436
AA Change: I5S

Domain	Start	End	E-Value	Type
ETS	4	89	4.95e-58	SMART
low complexity region	147	158	N/A	INTRINSIC
low complexity region	208	219	N/A	INTRINSIC
low complexity region	245	264	N/A	INTRINSIC
low complexity region	335	348	N/A	INTRINSIC
low complexity region	360	373	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086556
AA Change: I5S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083743
Gene: ENSMUSG00000026436
AA Change: I5S

Domain	Start	End	E-Value	Type
ETS	4	89	4.95e-58	SMART
low complexity region	147	158	N/A	INTRINSIC
low complexity region	208	219	N/A	INTRINSIC
low complexity region	245	264	N/A	INTRINSIC
low complexity region	335	348	N/A	INTRINSIC
low complexity region	360	373	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146432
AA Change: I5S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118880
Gene: ENSMUSG00000026436
AA Change: I5S

Domain	Start	End	E-Value	Type
ETS	4	89	4.95e-58	SMART
low complexity region	147	158	N/A	INTRINSIC
low complexity region	208	219	N/A	INTRINSIC
low complexity region	245	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147218

SMART Domains

Protein: ENSMUSP00000114255
Gene: ENSMUSG00000026436

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
low complexity region	105	124	N/A	INTRINSIC
low complexity region	195	208	N/A	INTRINSIC
low complexity region	220	233	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this locus impairs thymocyte positive selection and results in reduced numbers of single-positive thymocytes and peripheral T cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	G	2: 19,522,493 (GRCm39)	D202A	probably damaging	Het
Aass	T	A	6: 23,077,123 (GRCm39)	R745S	probably benign	Het
Adamts14	C	T	10: 61,085,439 (GRCm39)	R195H	possibly damaging	Het
Afm	T	C	5: 90,671,674 (GRCm39)	F119L	probably benign	Het
Alox5ap	T	A	5: 149,222,190 (GRCm39)	V93E	probably damaging	Het
Ascl3	G	A	7: 109,327,104 (GRCm39)	P72S	probably benign	Het
Cacnb1	C	A	11: 97,896,131 (GRCm39)	D386Y	probably damaging	Het
Ccdc121rt3	T	G	5: 112,502,706 (GRCm39)	I333L	possibly damaging	Het
Cep350	T	C	1: 155,737,485 (GRCm39)	E2786G	probably benign	Het
Chd1	A	T	17: 15,951,107 (GRCm39)	K227N	possibly damaging	Het
Cyp4f13	C	G	17: 33,143,801 (GRCm39)	E508Q	probably damaging	Het
Dlgap1	T	A	17: 71,116,186 (GRCm39)	L843Q	probably damaging	Het
Erc1	A	T	6: 119,774,036 (GRCm39)	D306E	possibly damaging	Het
Fars2	G	A	13: 36,388,846 (GRCm39)	V112I	probably benign	Het
Gdf2	A	T	14: 33,663,411 (GRCm39)	T102S	probably benign	Het
Glb1	A	G	9: 114,302,922 (GRCm39)	N586S	probably damaging	Het
Gm45861	T	A	8: 27,995,043 (GRCm39)	S472T	unknown	Het
Gm5800	G	A	14: 51,951,995 (GRCm39)	A89V	possibly damaging	Het
Gpalpp1	A	G	14: 76,344,792 (GRCm39)	S64P	probably damaging	Het
Hbq1a	T	C	11: 32,250,400 (GRCm39)	V63A	probably damaging	Het
Htr7	A	G	19: 36,034,490 (GRCm39)	V55A	probably benign	Het
Ica1	T	A	6: 8,667,362 (GRCm39)	D268V	probably benign	Het
Ipo8	T	C	6: 148,678,730 (GRCm39)	E956G	probably damaging	Het
Itprid2	G	A	2: 79,475,180 (GRCm39)	E380K	probably benign	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kdr	T	C	5: 76,109,428 (GRCm39)	D983G	probably damaging	Het
Klhl23	C	G	2: 69,664,083 (GRCm39)	I477M	possibly damaging	Het
Kpna2	G	T	11: 106,882,039 (GRCm39)	H262Q	possibly damaging	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lrrc17	G	A	5: 21,766,033 (GRCm39)	E172K	probably benign	Het
Lrrc45	A	T	11: 120,606,649 (GRCm39)	I184F	possibly damaging	Het
Med11	A	G	11: 70,342,910 (GRCm39)	T36A	probably benign	Het
Mtf2	A	G	5: 108,252,133 (GRCm39)	D423G	probably benign	Het
Ndfip2	A	G	14: 105,525,157 (GRCm39)	D146G	probably benign	Het
Nfat5	A	G	8: 108,094,536 (GRCm39)	I926V	probably benign	Het
Paqr6	T	A	3: 88,273,328 (GRCm39)	S107T	probably damaging	Het
Pdgfrb	G	A	18: 61,201,291 (GRCm39)	S459N	probably null	Het
Pld5	T	A	1: 175,917,474 (GRCm39)	H153L	probably benign	Het
Pmfbp1	A	G	8: 110,263,244 (GRCm39)	R788G	possibly damaging	Het
Smok2a	A	C	17: 13,445,825 (GRCm39)	R467S	probably damaging	Het
Sncaip	A	C	18: 53,039,973 (GRCm39)	K722N	probably damaging	Het
Sycp2	A	G	2: 177,989,214 (GRCm39)		probably null	Het
Syne2	T	A	12: 75,950,994 (GRCm39)	W382R	probably damaging	Het
Tiam2	T	C	17: 3,561,407 (GRCm39)	V1324A	probably damaging	Het
Tmem120b	A	T	5: 123,236,307 (GRCm39)	I47F	probably damaging	Het
Tubg2	G	A	11: 101,049,957 (GRCm39)	C201Y	probably damaging	Het
Umodl1	A	G	17: 31,192,677 (GRCm39)	E268G	probably damaging	Het
Zfyve26	T	G	12: 79,318,915 (GRCm39)	D1141A	probably damaging	Het

Other mutations in Elk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01798:Elk4	APN	1	131,945,592 (GRCm39)	missense	possibly damaging	0.49
IGL02376:Elk4	APN	1	131,942,288 (GRCm39)	missense	probably benign	0.27
IGL02503:Elk4	APN	1	131,942,277 (GRCm39)	missense	probably damaging	1.00
IGL02620:Elk4	APN	1	131,946,109 (GRCm39)	missense	probably benign	0.14
IGL03217:Elk4	APN	1	131,945,778 (GRCm39)	missense	probably benign	0.09
R1386:Elk4	UTSW	1	131,945,568 (GRCm39)	missense	probably damaging	1.00
R4937:Elk4	UTSW	1	131,945,419 (GRCm39)	missense	probably damaging	1.00
R6958:Elk4	UTSW	1	131,945,570 (GRCm39)	missense	probably damaging	1.00
R7025:Elk4	UTSW	1	131,947,107 (GRCm39)	missense	probably damaging	1.00
R7189:Elk4	UTSW	1	131,947,127 (GRCm39)	missense	probably damaging	0.99
R9753:Elk4	UTSW	1	131,945,881 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAACTCGCCATACTTCAGACTTCTG -3'
(R):5'- AGGGCTCGGCTGAGTTTATC -3'

Sequencing Primer
(F):5'- AACACTCATGTCTAGCCTGGG -3'
(R):5'- GCTCGGCTGAGTTTATCATAATTC -3'

Posted On

2021-11-19