Mutagenetix > Incidental Mutation

Incidental Mutation 'R4864:Eps15'

374738

Institutional Source

Beutler Lab

Gene Symbol

Eps15

Ensembl Gene

ENSMUSG00000028552

Gene Name

epidermal growth factor receptor pathway substrate 15

Synonyms

2410112D09Rik

MMRRC Submission

042474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4864 (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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

99% (93/94)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
Acp6	T	C	3: 97,066,683 (GRCm39)		probably null	Het
Adora3	T	A	3: 105,815,131 (GRCm39)	Y148N	probably damaging	Het
Ahnak2	G	A	12: 112,740,040 (GRCm39)	S538L	probably damaging	Het
Aox3	T	G	1: 58,215,646 (GRCm39)	V1026G	probably damaging	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgef37	G	A	18: 61,627,996 (GRCm39)	A649V	probably benign	Het
Atp5f1a	G	A	18: 77,869,015 (GRCm39)	R413H	possibly damaging	Het
Bace1	A	T	9: 45,766,109 (GRCm39)	I179F	probably damaging	Het
Brinp1	A	G	4: 68,717,123 (GRCm39)	F242L	probably damaging	Het
Brk1	T	C	6: 113,592,805 (GRCm39)	Y63H	possibly damaging	Het
Ccdc74a	A	G	16: 17,466,736 (GRCm39)	T148A	probably benign	Het
Cenpc1	T	A	5: 86,193,180 (GRCm39)	L236F	probably damaging	Het
Col13a1	C	T	10: 61,698,439 (GRCm39)	E541K	unknown	Het
Copg1	T	A	6: 87,866,678 (GRCm39)	C44S	probably damaging	Het
D130043K22Rik	A	G	13: 25,047,595 (GRCm39)	E380G	probably damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dgkd	A	T	1: 87,844,560 (GRCm39)	N242I	possibly damaging	Het
Dnah2	C	T	11: 69,313,416 (GRCm39)	V4248I	probably damaging	Het
Dpy19l3	T	A	7: 35,411,607 (GRCm39)	K376*	probably null	Het
Eef1d	A	G	15: 75,775,255 (GRCm39)	S135P	possibly damaging	Het
Epc2	T	A	2: 49,427,177 (GRCm39)	S574T	probably benign	Het
Eps8	T	C	6: 137,455,967 (GRCm39)		probably benign	Het
Exoc5	A	T	14: 49,289,839 (GRCm39)	V13E	probably benign	Het
Fbn1	A	T	2: 125,214,317 (GRCm39)	C765S	possibly damaging	Het
Fbxo5	A	T	10: 5,752,392 (GRCm39)	C74S	probably benign	Het
Fbxw9	T	C	8: 85,792,530 (GRCm39)	S322P	probably damaging	Het
Fmo5	T	A	3: 97,553,195 (GRCm39)	I381N	probably damaging	Het
Fmo6	T	C	1: 162,751,964 (GRCm39)	D175G	probably benign	Het
Gm7361	A	G	5: 26,467,008 (GRCm39)		probably null	Het
Gm9961	G	A	16: 11,720,899 (GRCm39)		probably benign	Het
Golga7b	T	A	19: 42,255,405 (GRCm39)		probably null	Het
Gorab	T	C	1: 163,213,967 (GRCm39)	E321G	probably benign	Het
Gpx1	T	A	9: 108,216,594 (GRCm39)	V28E	probably benign	Het
H2-T15	T	A	17: 36,369,253 (GRCm39)		probably benign	Het
H3c14	T	C	3: 96,154,575 (GRCm39)	I125T	probably damaging	Het
Hk1	T	C	10: 62,178,318 (GRCm39)	S8G	probably benign	Het
Iqsec1	C	T	6: 90,641,038 (GRCm39)	R1026H	probably damaging	Het
Kdm4b	A	T	17: 56,660,091 (GRCm39)	Y86F	probably benign	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Lamb1	C	T	12: 31,371,005 (GRCm39)	T1400M	probably benign	Het
Lcor	G	T	19: 41,573,803 (GRCm39)	A853S	probably benign	Het
Lrriq3	T	A	3: 154,893,447 (GRCm39)	Y383N	possibly damaging	Het
Map3k21	T	C	8: 126,654,294 (GRCm39)	I371T	probably benign	Het
Mllt1	A	T	17: 57,212,819 (GRCm39)	F105I	probably damaging	Het
Nfatc2	A	G	2: 168,378,312 (GRCm39)	M451T	probably damaging	Het
Nfkbiz	A	C	16: 55,638,787 (GRCm39)	N224K	probably damaging	Het
Nlrp4d	A	G	7: 10,115,088 (GRCm39)	V531A	noncoding transcript	Het
Noc3l	A	G	19: 38,778,081 (GRCm39)	Y778H	probably benign	Het
Nup98	C	A	7: 101,802,403 (GRCm39)	A734S	possibly damaging	Het
Or2ag18	T	C	7: 106,405,171 (GRCm39)	Y166C	probably damaging	Het
Or4k2	T	A	14: 50,424,039 (GRCm39)	I212F	probably damaging	Het
Or9g20	A	G	2: 85,630,033 (GRCm39)	Y194H	probably damaging	Het
Or9r7	T	A	10: 129,962,756 (GRCm39)	R57*	probably null	Het
Pate4	A	T	9: 35,519,535 (GRCm39)	C52S	probably damaging	Het
Pecr	C	A	1: 72,316,490 (GRCm39)	A72S	probably benign	Het
Pomt1	A	G	2: 32,142,004 (GRCm39)	N578S	probably benign	Het
Ppm1a	T	C	12: 72,830,738 (GRCm39)	S88P	probably benign	Het
Ppm1l	T	A	3: 69,449,844 (GRCm39)		probably benign	Het
Prdm13	A	G	4: 21,685,543 (GRCm39)	S86P	unknown	Het
Prph2	T	C	17: 47,221,848 (GRCm39)	S76P	probably benign	Het
Sarnp	G	A	10: 128,669,212 (GRCm39)	R23H	probably damaging	Het
Septin1	T	C	7: 126,816,064 (GRCm39)		probably benign	Het
Serpini1	T	C	3: 75,520,481 (GRCm39)	I26T	probably benign	Het
Setdb2	A	G	14: 59,646,715 (GRCm39)	I616T	probably benign	Het
Slc2a10	T	C	2: 165,356,541 (GRCm39)	F67S	probably benign	Het
Slc38a6	T	A	12: 73,390,424 (GRCm39)		probably null	Het
Smg6	T	C	11: 74,820,988 (GRCm39)	S420P	possibly damaging	Het
Srp72	T	A	5: 77,132,009 (GRCm39)	H229Q	probably benign	Het
Ston2	A	G	12: 91,615,448 (GRCm39)	V320A	possibly damaging	Het
Stx3	A	T	19: 11,754,515 (GRCm39)	I269N	possibly damaging	Het
Tdg-ps	A	G	15: 82,400,843 (GRCm39)		noncoding transcript	Het
Tecpr1	T	A	5: 144,150,935 (GRCm39)	N291I	probably benign	Het
Tmem177	A	G	1: 119,838,553 (GRCm39)	V42A	probably benign	Het
Trim26	T	A	17: 37,168,886 (GRCm39)		probably benign	Het
Ttc17	A	G	2: 94,196,980 (GRCm39)	S456P	probably benign	Het
Tubgcp6	T	C	15: 88,988,021 (GRCm39)	Y984C	probably benign	Het
Unc5cl	A	G	17: 48,766,872 (GRCm39)	E82G	possibly damaging	Het
Uncx	T	C	5: 139,529,875 (GRCm39)	S43P	probably damaging	Het
Vmn1r1	A	G	1: 181,985,332 (GRCm39)	V111A	probably benign	Het
Vmn1r168	A	G	7: 23,240,907 (GRCm39)	I255V	probably damaging	Het
Vwce	A	G	19: 10,628,000 (GRCm39)	T487A	probably benign	Het
Xaf1	A	G	11: 72,197,682 (GRCm39)		probably benign	Het
Zfp27	G	T	7: 29,594,261 (GRCm39)	P568Q	probably damaging	Het
Zfp382	A	T	7: 29,832,885 (GRCm39)	I179F	possibly damaging	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
R4954:Eps15	UTSW	4	109,227,875 (GRCm39)	splice site	probably null
R5134:Eps15	UTSW	4	109,223,727 (GRCm39)	unclassified	probably benign
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'- AGGTCACTTGAAGTACTTCTCTAAACG -3'
(R):5'- AGTGTGCAATCTCTATCACTGGC -3'

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

Posted On

2016-03-17