Mutagenetix > Incidental Mutations

Incidental Mutation 'R1756:Eps15'

194843

Institutional Source

Beutler Lab

Gene Symbol

Eps15

Ensembl Gene

ENSMUSG00000028552

Gene Name

epidermal growth factor receptor pathway substrate 15

Synonyms

MMRRC Submission

039788-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1756 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109280268-109387817 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 109312918 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 139 (L139*)

Ref Sequence

ENSEMBL: ENSMUSP00000135034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102729] [ENSMUST00000132165] [ENSMUST00000175776] [ENSMUST00000176251] [ENSMUST00000177089]

Predicted Effect

probably null
Transcript: ENSMUST00000102729
AA Change: L139*

SMART Domains

Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: L139*

Domain	Start	End	E-Value	Type
EH	8	103	7.03e-29	SMART
EFh	52	80	4.74e-3	SMART
EH	121	215	2.91e-53	SMART
EFh	164	192	4.67e-2	SMART
EH	217	313	1.16e-47	SMART
EFh	227	255	1.2e1	SMART
EFh	261	289	6.82e1	SMART
coiled coil region	329	502	N/A	INTRINSIC
low complexity region	505	516	N/A	INTRINSIC
internal_repeat_2	622	655	1.25e-5	PROSPERO
low complexity region	662	685	N/A	INTRINSIC
low complexity region	744	754	N/A	INTRINSIC
low complexity region	774	792	N/A	INTRINSIC
internal_repeat_2	799	831	1.25e-5	PROSPERO
UIM	852	871	3.32e0	SMART
UIM	878	897	1.55e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000132165
AA Change: L139*

SMART Domains

Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: L139*

Domain	Start	End	E-Value	Type
EH	8	103	7.03e-29	SMART
EFh	52	80	4.74e-3	SMART
EH	121	215	2.91e-53	SMART
EFh	164	192	4.67e-2	SMART
EH	217	313	1.16e-47	SMART
EFh	227	255	1.2e1	SMART
EFh	261	289	6.82e1	SMART
coiled coil region	329	429	N/A	INTRINSIC
low complexity region	529	552	N/A	INTRINSIC
low complexity region	611	621	N/A	INTRINSIC
low complexity region	641	659	N/A	INTRINSIC
UIM	719	738	3.32e0	SMART
UIM	745	764	1.55e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141751

Predicted Effect

probably null
Transcript: ENSMUST00000175776
AA Change: L139*

SMART Domains

Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: L139*

Domain	Start	End	E-Value	Type
EH	8	103	7.03e-29	SMART
EFh	52	80	4.74e-3	SMART
EH	121	215	2.91e-53	SMART
EFh	164	192	4.67e-2	SMART
EH	253	349	4.38e-48	SMART
EFh	263	291	1.2e1	SMART
EFh	297	325	6.82e1	SMART
coiled coil region	365	538	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
internal_repeat_2	658	691	1.92e-5	PROSPERO
low complexity region	698	721	N/A	INTRINSIC
low complexity region	780	790	N/A	INTRINSIC
low complexity region	810	828	N/A	INTRINSIC
internal_repeat_2	835	867	1.92e-5	PROSPERO
UIM	888	907	3.32e0	SMART
UIM	914	933	1.55e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000176251
AA Change: L139*

SMART Domains

Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: L139*

Domain	Start	End	E-Value	Type
EH	8	103	7.03e-29	SMART
EFh	52	80	4.74e-3	SMART
EH	121	215	2.91e-53	SMART
EFh	164	192	4.67e-2	SMART
EH	217	313	1.16e-47	SMART
EFh	227	255	1.2e1	SMART
EFh	261	289	6.82e1	SMART
coiled coil region	329	502	N/A	INTRINSIC
low complexity region	505	516	N/A	INTRINSIC
low complexity region	662	685	N/A	INTRINSIC
low complexity region	744	754	N/A	INTRINSIC
low complexity region	774	791	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177089

SMART Domains

Protein: ENSMUSP00000134922
Gene: ENSMUSG00000028552

Domain	Start	End	E-Value	Type
SCOP:d1qjta_	4	69	4e-5	SMART
PDB:1QJT\|A	15	72	9e-36	PDB
Blast:EH	15	84	3e-39	BLAST

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygotes for a null allele show increased marginal zone B cell number with no changes in precursor cells, proliferation, apoptosis, migration or B cell responses. Homozygotes for a different null allele show decreased mean corpuscular hemoglobin (MCH), decreased MCH concentration, and dermatitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,068,061	H382Q	possibly damaging	Het
A330008L17Rik	C	A	8: 99,421,882		noncoding transcript	Het
Acin1	A	G	14: 54,665,204	V377A	probably benign	Het
Adam39	A	T	8: 40,825,324	I251F	probably damaging	Het
Adnp2	A	T	18: 80,127,697	*1166K	probably null	Het
Akap12	T	A	10: 4,357,574	D1461E	probably benign	Het
Apba1	A	G	19: 23,893,692	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,393,471	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,712,392	M163I	probably damaging	Het
Cap2	T	G	13: 46,531,013	I53R	probably benign	Het
Ccdc105	T	A	10: 78,747,197	K451M	probably damaging	Het
Ccdc74a	T	C	16: 17,650,468	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,410,788	V234A	probably benign	Het
Cd207	C	T	6: 83,675,597	V184I	probably benign	Het
Cdk12	C	A	11: 98,241,761	C1005*	probably null	Het
Cep83	T	C	10: 94,750,267	S344P	probably damaging	Het
Ces1g	A	T	8: 93,306,954	Y447N	probably benign	Het
Cfap54	A	T	10: 93,048,061	L277Q	probably damaging	Het
Cfh	A	G	1: 140,100,877	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,415,214	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,267,109	D59G	probably damaging	Het
Colq	G	A	14: 31,547,452	P153S	probably damaging	Het
Crybg1	T	A	10: 43,986,279	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,617,524	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,271,605	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,739,309	V306A	probably benign	Het
Diaph1	A	T	18: 37,854,573	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,086,103	D538E	probably damaging	Het
Dnaic2	T	G	11: 114,750,380	S344A	probably benign	Het
Dner	C	T	1: 84,445,590	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,342,695		probably null	Het
Fam193a	T	A	5: 34,466,292	I55N	possibly damaging	Het
Gm10308	T	A	17: 91,088,957	Y102*	probably null	Het
Gm10509	A	G	17: 21,690,855	K30E	possibly damaging	Het
Gm4778	A	T	3: 94,266,218	M174L	probably benign	Het
Gm9573	A	T	17: 35,619,239		probably benign	Het
Gpr155	T	C	2: 73,367,577	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,286,123		probably benign	Het
Heatr1	G	T	13: 12,396,460	A61S	probably benign	Het
Helb	G	T	10: 120,094,242	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,599,030	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,396,120	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,208,461	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,268,669	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,437,220	K7T	probably damaging	Het
Krtap5-5	T	G	7: 142,229,621	K97N	unknown	Het
Lcor	T	C	19: 41,559,266	S430P	probably benign	Het
Lpin1	A	G	12: 16,538,540	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,110,825	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 97,034,730		probably benign	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mpdz	C	T	4: 81,306,877	V1438M	possibly damaging	Het
Ncbp1	T	A	4: 46,169,131	L635*	probably null	Het
Nipbl	T	C	15: 8,338,551	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,461,534	D196G	probably benign	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr1008	A	G	2: 85,690,083	Y218C	probably damaging	Het
Olfr1360	A	G	13: 21,674,695	I83T	probably benign	Het
Olfr901	A	T	9: 38,430,995	I238F	probably benign	Het
Pax8	A	T	2: 24,435,821	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,658,750	K298E	probably benign	Het
Pkd1	C	T	17: 24,594,485	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,810,727	V546D	possibly damaging	Het
Plcg2	A	G	8: 117,592,708	K673E	probably benign	Het
Pld4	T	G	12: 112,763,392		probably null	Het
Plek	A	T	11: 16,992,901	N130K	probably damaging	Het
Prune2	G	A	19: 17,123,704	D2191N	probably benign	Het
Ptgis	T	C	2: 167,206,803	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,607,266	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,910,830	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,670,881	S168P	probably benign	Het
Sec24a	A	G	11: 51,733,763		probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,750,552	M574I	probably benign	Het
Slk	T	C	19: 47,622,677	F861L	probably damaging	Het
Smpd3	C	A	8: 106,264,971	A317S	probably benign	Het
Spz1	T	A	13: 92,575,125	Q281L	probably damaging	Het
Syde1	T	A	10: 78,586,980	R519S	probably benign	Het
Taf4	T	C	2: 179,976,531	H39R	unknown	Het
Tbx5	A	T	5: 119,845,113		probably null	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Th	G	A	7: 142,898,166	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,420,179	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 154,925,322	H50L	possibly damaging	Het
Tpp2	T	A	1: 43,978,725		probably null	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trim2	A	G	3: 84,190,800	I398T	possibly damaging	Het
Trpc5	A	T	X: 144,481,226	S212T	probably damaging	Het
Ttn	A	G	2: 76,787,334		probably benign	Het
Unc80	A	G	1: 66,639,248	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,479,655	S260T	probably benign	Het
Vcan	A	G	13: 89,691,681	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,612,298	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,626,424	T205A	probably benign	Het

Other mutations in Eps15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Eps15	APN	4	109309149	missense	probably damaging	0.99
IGL01372:Eps15	APN	4	109322106	missense	probably damaging	1.00
IGL01642:Eps15	APN	4	109366473	missense	probably benign	0.00
IGL02207:Eps15	APN	4	109304748	splice site	probably benign
IGL02394:Eps15	APN	4	109312965	missense	probably damaging	1.00
IGL02755:Eps15	APN	4	109329698	missense	probably benign	0.17
R0117:Eps15	UTSW	4	109382819	missense	probably damaging	0.96
R0414:Eps15	UTSW	4	109366480	missense	probably damaging	0.96
R0928:Eps15	UTSW	4	109312963	missense	possibly damaging	0.95
R1545:Eps15	UTSW	4	109312329	missense	probably benign	0.00
R1581:Eps15	UTSW	4	109363186	missense	probably benign	0.15
R1627:Eps15	UTSW	4	109370557	missense	probably damaging	1.00
R1799:Eps15	UTSW	4	109382837	missense	probably damaging	1.00
R1906:Eps15	UTSW	4	109324201	missense	possibly damaging	0.89
R1916:Eps15	UTSW	4	109368974	missense	probably damaging	1.00
R2042:Eps15	UTSW	4	109304767	missense	probably damaging	0.98
R2046:Eps15	UTSW	4	109370596	missense	probably damaging	1.00
R2163:Eps15	UTSW	4	109370669	missense	probably damaging	0.98
R2213:Eps15	UTSW	4	109361220	missense	probably damaging	1.00
R2362:Eps15	UTSW	4	109361230	missense	probably benign	0.06
R3151:Eps15	UTSW	4	109366222	missense	probably benign	0.02
R3712:Eps15	UTSW	4	109309177	missense	probably damaging	1.00
R3727:Eps15	UTSW	4	109370685	splice site	probably benign
R4361:Eps15	UTSW	4	109380031	critical splice donor site	probably null
R4381:Eps15	UTSW	4	109366530	unclassified	probably benign
R4466:Eps15	UTSW	4	109366530	unclassified	probably benign
R4740:Eps15	UTSW	4	109343190	missense	probably damaging	1.00
R4797:Eps15	UTSW	4	109366530	unclassified	probably benign
R4799:Eps15	UTSW	4	109366530	unclassified	probably benign
R4801:Eps15	UTSW	4	109324217	missense	possibly damaging	0.95
R4802:Eps15	UTSW	4	109324217	missense	possibly damaging	0.95
R4864:Eps15	UTSW	4	109366530	unclassified	probably benign
R4954:Eps15	UTSW	4	109370678	splice site	probably null
R5134:Eps15	UTSW	4	109366530	unclassified	probably benign
R5386:Eps15	UTSW	4	109321225	missense	possibly damaging	0.48
R5768:Eps15	UTSW	4	109363176	splice site	probably null
R5870:Eps15	UTSW	4	109361310	missense	probably damaging	0.98
R6245:Eps15	UTSW	4	109382866	missense	possibly damaging	0.66
R6290:Eps15	UTSW	4	109363198	missense	probably benign	0.37
R6291:Eps15	UTSW	4	109305703	frame shift	probably null
R6493:Eps15	UTSW	4	109368948	missense	probably damaging	1.00
R6813:Eps15	UTSW	4	109280402	splice site	probably null
R6885:Eps15	UTSW	4	109309164	missense	probably damaging	0.99
R6913:Eps15	UTSW	4	109361230	missense	probably benign	0.06
R7362:Eps15	UTSW	4	109366242	critical splice donor site	probably null
R7461:Eps15	UTSW	4	109329725	missense	probably damaging	1.00
R7613:Eps15	UTSW	4	109329725	missense	probably damaging	1.00
R7923:Eps15	UTSW	4	109315872	missense	possibly damaging	0.90
R7966:Eps15	UTSW	4	109321143	missense	probably damaging	0.98
X0023:Eps15	UTSW	4	109343357	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGATCTTCAAAGCATCCCATCTCTTGC -3'
(R):5'- gcctGTACTCATCTGTacacacacc -3'

Sequencing Primer
(F):5'- GCTTTGATTCTAACTCAACAGCAG -3'
(R):5'- tgaggctcaggcaagagg -3'

Posted On

2014-05-23