Mutagenetix > Incidental Mutation

Incidental Mutation 'R5134:Eps15'

396028

Institutional Source

Beutler Lab

Gene Symbol

Eps15

Ensembl Gene

ENSMUSG00000028552

Gene Name

epidermal growth factor receptor pathway substrate 15

Synonyms

2410112D09Rik

MMRRC Submission

042722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5134 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109137465-109245014 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 109223727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030281] [ENSMUST00000102729] [ENSMUST00000132165] [ENSMUST00000175776] [ENSMUST00000176251]

AlphaFold

P42567

Predicted Effect

probably benign
Transcript: ENSMUST00000030281

SMART Domains

Protein: ENSMUSP00000030281
Gene: ENSMUSG00000028552

Domain	Start	End	E-Value	Type
SCOP:d1bg1a1	37	178	8e-8	SMART
low complexity region	191	202	N/A	INTRINSIC
internal_repeat_1	308	341	5.7e-7	PROSPERO
low complexity region	348	371	N/A	INTRINSIC
low complexity region	430	440	N/A	INTRINSIC
low complexity region	460	478	N/A	INTRINSIC
internal_repeat_1	485	517	5.7e-7	PROSPERO
UIM	538	557	3.32e0	SMART
UIM	564	583	1.55e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102729

SMART Domains

Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552

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

noncoding transcript
Transcript: ENSMUST00000126015

Predicted Effect

probably benign
Transcript: ENSMUST00000132165

SMART Domains

Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552

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

probably benign
Transcript: ENSMUST00000175776

SMART Domains

Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552

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 benign
Transcript: ENSMUST00000176251

SMART Domains

Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552

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

noncoding transcript
Transcript: ENSMUST00000177140

Predicted Effect

probably benign
Transcript: ENSMUST00000177192

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

96% (100/104)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	A	10: 77,161,679 (GRCm39)		probably benign	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Ank2	A	T	3: 126,757,094 (GRCm39)	N1054K	possibly damaging	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Aph1a	G	T	3: 95,802,843 (GRCm39)	G148W	probably damaging	Het
Arsj	A	G	3: 126,231,803 (GRCm39)	D183G	probably benign	Het
Atg2b	A	G	12: 105,641,209 (GRCm39)	S76P	probably damaging	Het
Atxn7l1	C	A	12: 33,422,875 (GRCm39)	N815K	probably damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cir1	G	A	2: 73,114,847 (GRCm39)	R404*	probably null	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Cstf2t	T	A	19: 31,061,494 (GRCm39)	D343E	probably damaging	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Dhx34	G	T	7: 15,952,175 (GRCm39)	A150D	possibly damaging	Het
Dnal4	A	T	15: 79,647,766 (GRCm39)	V32E	possibly damaging	Het
Dvl3	G	T	16: 20,343,357 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Enpp2	C	T	15: 54,762,726 (GRCm39)	R174H	probably damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	T	15: 58,512,003 (GRCm39)	D1490V	probably damaging	Het
Fsd1l	A	G	4: 53,647,766 (GRCm39)	K70E	probably benign	Het
Galnt12	G	A	4: 47,113,818 (GRCm39)	A79T	probably damaging	Het
Galnt17	A	T	5: 130,992,873 (GRCm39)	M347K	probably damaging	Het
Glyatl3	A	G	17: 41,215,921 (GRCm39)	V195A	probably benign	Het
Gm10770	A	T	2: 150,021,480 (GRCm39)		probably null	Het
Gm5578	A	T	6: 112,583,046 (GRCm39)		noncoding transcript	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Ighv1-50	T	G	12: 115,083,653 (GRCm39)	Q22H	probably benign	Het
Ipcef1	A	G	10: 6,869,950 (GRCm39)	I150T	probably benign	Het
Ipp	T	A	4: 116,372,654 (GRCm39)	F228I	possibly damaging	Het
Itgb7	A	G	15: 102,125,842 (GRCm39)	C596R	probably damaging	Het
Kif27	T	C	13: 58,438,904 (GRCm39)	D1219G	possibly damaging	Het
Lats1	T	A	10: 7,567,575 (GRCm39)	D115E	probably benign	Het
Lpcat3	A	G	6: 124,679,493 (GRCm39)	N331S	probably benign	Het
Lrpprc	A	T	17: 85,058,684 (GRCm39)	N725K	probably benign	Het
Lss	T	G	10: 76,382,070 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,747,515 (GRCm39)	Y450C	possibly damaging	Het
Mmp21	A	T	7: 133,280,742 (GRCm39)	V76E	probably benign	Het
Mtmr11	A	T	3: 96,077,223 (GRCm39)	Y527F	probably damaging	Het
Nat10	A	T	2: 103,573,638 (GRCm39)	F327I	probably benign	Het
Nfkbiz	A	T	16: 55,638,863 (GRCm39)	M199K	probably damaging	Het
Nuak1	A	G	10: 84,210,214 (GRCm39)	Y625H	probably benign	Het
Odf1	A	G	15: 38,226,393 (GRCm39)	T98A	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or10g3b	T	C	14: 52,587,248 (GRCm39)	N85S	probably benign	Het
Or1j4	A	T	2: 36,740,488 (GRCm39)	L143F	probably benign	Het
Or4x13	T	A	2: 90,231,107 (GRCm39)	M34K	probably benign	Het
Osbpl8	T	A	10: 111,124,554 (GRCm39)	D705E	probably benign	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Paics	T	C	5: 77,104,669 (GRCm39)		probably benign	Het
Pax5	A	G	4: 44,710,407 (GRCm39)	M1T	probably null	Het
Pck1	A	T	2: 172,995,282 (GRCm39)	N34I	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Piezo2	A	G	18: 63,207,691 (GRCm39)	V1440A	probably damaging	Het
Prr23a4	T	C	9: 98,785,793 (GRCm39)	S153P	probably benign	Het
Ptpre	T	A	7: 135,253,821 (GRCm39)	F83Y	probably damaging	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rassf6	T	A	5: 90,752,225 (GRCm39)		probably null	Het
Rilp	A	T	11: 75,403,534 (GRCm39)	L325F	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Rprd2	G	C	3: 95,672,632 (GRCm39)	R924G	probably benign	Het
Rps6kc1	T	A	1: 190,505,845 (GRCm39)	D1039V	probably damaging	Het
Rufy3	G	A	5: 88,793,426 (GRCm39)	V579I	probably benign	Het
Serpinc1	A	G	1: 160,825,140 (GRCm39)		probably null	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
St14	T	G	9: 31,006,879 (GRCm39)	D649A	probably benign	Het
Stab2	A	G	10: 86,707,674 (GRCm39)		probably null	Het
Sun3	T	C	11: 8,988,287 (GRCm39)	T12A	probably benign	Het
Tdrd6	A	G	17: 43,937,101 (GRCm39)	Y1316H	probably damaging	Het
Thbs3	CAGAAG	CAG	3: 89,130,409 (GRCm39)		probably benign	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Trav14-3	T	A	14: 54,000,701 (GRCm39)	S17T	unknown	Het
Trmu	T	A	15: 85,780,556 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,537,586 (GRCm39)	T26454S	possibly damaging	Het
Ubr3	T	C	2: 69,850,790 (GRCm39)		probably benign	Het
Unc5b	A	T	10: 60,610,879 (GRCm39)	V376E	probably benign	Het
Usp3	T	C	9: 66,449,814 (GRCm39)	S166G	possibly damaging	Het
Vldlr	C	A	19: 27,216,212 (GRCm39)	C344*	probably null	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdfy3	A	C	5: 102,091,969 (GRCm39)	Y457D	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfp687	A	C	3: 94,917,697 (GRCm39)	F692V	probably damaging	Het
Zfp758	A	G	17: 22,594,386 (GRCm39)	K291E	probably damaging	Het
Zfp799	A	T	17: 33,039,415 (GRCm39)	C284S	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	Het

Other mutations in Eps15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Eps15	APN	4	109,166,346 (GRCm39)	missense	probably damaging	0.99
IGL01372:Eps15	APN	4	109,179,303 (GRCm39)	missense	probably damaging	1.00
IGL01642:Eps15	APN	4	109,223,670 (GRCm39)	missense	probably benign	0.00
IGL02207:Eps15	APN	4	109,161,945 (GRCm39)	splice site	probably benign
IGL02394:Eps15	APN	4	109,170,162 (GRCm39)	missense	probably damaging	1.00
IGL02755:Eps15	APN	4	109,186,895 (GRCm39)	missense	probably benign	0.17
R0117:Eps15	UTSW	4	109,240,016 (GRCm39)	missense	probably damaging	0.96
R0414:Eps15	UTSW	4	109,223,677 (GRCm39)	missense	probably damaging	0.96
R0928:Eps15	UTSW	4	109,170,160 (GRCm39)	missense	possibly damaging	0.95
R1545:Eps15	UTSW	4	109,169,526 (GRCm39)	missense	probably benign	0.00
R1581:Eps15	UTSW	4	109,220,383 (GRCm39)	missense	probably benign	0.15
R1627:Eps15	UTSW	4	109,227,754 (GRCm39)	missense	probably damaging	1.00
R1756:Eps15	UTSW	4	109,170,115 (GRCm39)	nonsense	probably null
R1799:Eps15	UTSW	4	109,240,034 (GRCm39)	missense	probably damaging	1.00
R1906:Eps15	UTSW	4	109,181,398 (GRCm39)	missense	possibly damaging	0.89
R1916:Eps15	UTSW	4	109,226,171 (GRCm39)	missense	probably damaging	1.00
R2042:Eps15	UTSW	4	109,161,964 (GRCm39)	missense	probably damaging	0.98
R2046:Eps15	UTSW	4	109,227,793 (GRCm39)	missense	probably damaging	1.00
R2163:Eps15	UTSW	4	109,227,866 (GRCm39)	missense	probably damaging	0.98
R2213:Eps15	UTSW	4	109,218,417 (GRCm39)	missense	probably damaging	1.00
R2362:Eps15	UTSW	4	109,218,427 (GRCm39)	missense	probably benign	0.06
R3151:Eps15	UTSW	4	109,223,419 (GRCm39)	missense	probably benign	0.02
R3712:Eps15	UTSW	4	109,166,374 (GRCm39)	missense	probably damaging	1.00
R3727:Eps15	UTSW	4	109,227,882 (GRCm39)	splice site	probably benign
R4361:Eps15	UTSW	4	109,237,228 (GRCm39)	critical splice donor site	probably null
R4381:Eps15	UTSW	4	109,223,727 (GRCm39)	unclassified	probably benign
R4466:Eps15	UTSW	4	109,223,727 (GRCm39)	unclassified	probably benign
R4740:Eps15	UTSW	4	109,200,387 (GRCm39)	missense	probably damaging	1.00
R4797:Eps15	UTSW	4	109,223,727 (GRCm39)	unclassified	probably benign
R4799:Eps15	UTSW	4	109,223,727 (GRCm39)	unclassified	probably benign
R4801:Eps15	UTSW	4	109,181,414 (GRCm39)	missense	possibly damaging	0.95
R4802:Eps15	UTSW	4	109,181,414 (GRCm39)	missense	possibly damaging	0.95
R4864:Eps15	UTSW	4	109,223,727 (GRCm39)	unclassified	probably benign
R4954:Eps15	UTSW	4	109,227,875 (GRCm39)	splice site	probably null
R5386:Eps15	UTSW	4	109,178,422 (GRCm39)	missense	possibly damaging	0.48
R5768:Eps15	UTSW	4	109,220,373 (GRCm39)	splice site	probably null
R5870:Eps15	UTSW	4	109,218,507 (GRCm39)	missense	probably damaging	0.98
R6245:Eps15	UTSW	4	109,240,063 (GRCm39)	missense	possibly damaging	0.66
R6290:Eps15	UTSW	4	109,220,395 (GRCm39)	missense	probably benign	0.37
R6291:Eps15	UTSW	4	109,162,900 (GRCm39)	frame shift	probably null
R6493:Eps15	UTSW	4	109,226,145 (GRCm39)	missense	probably damaging	1.00
R6813:Eps15	UTSW	4	109,137,599 (GRCm39)	splice site	probably null
R6885:Eps15	UTSW	4	109,166,361 (GRCm39)	missense	probably damaging	0.99
R6913:Eps15	UTSW	4	109,218,427 (GRCm39)	missense	probably benign	0.06
R7362:Eps15	UTSW	4	109,223,439 (GRCm39)	critical splice donor site	probably null
R7461:Eps15	UTSW	4	109,186,922 (GRCm39)	missense	probably damaging	1.00
R7613:Eps15	UTSW	4	109,186,922 (GRCm39)	missense	probably damaging	1.00
R7923:Eps15	UTSW	4	109,173,069 (GRCm39)	missense	possibly damaging	0.90
R7966:Eps15	UTSW	4	109,178,340 (GRCm39)	missense	probably damaging	0.98
R8792:Eps15	UTSW	4	109,162,908 (GRCm39)	missense	probably benign	0.00
R8826:Eps15	UTSW	4	109,169,505 (GRCm39)	missense	possibly damaging	0.82
R9296:Eps15	UTSW	4	109,173,089 (GRCm39)	missense	possibly damaging	0.72
R9369:Eps15	UTSW	4	109,240,034 (GRCm39)	missense	probably damaging	1.00
R9663:Eps15	UTSW	4	109,179,270 (GRCm39)	missense	probably benign	0.04
X0023:Eps15	UTSW	4	109,200,554 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTCACTTGAAGTACTTCTCTAAACG -3'
(R):5'- TGTGCAATCTCTATCACTGGC -3'

Sequencing Primer
(F):5'- CTTGAAGTACTTCTCTAAACGTTTGG -3'
(R):5'- GCCTTTACTCTGAAGAAACATTCTC -3'

Posted On

2016-06-21