Mutagenetix > Incidental Mutation

Incidental Mutation 'R8826:Eps15'

673440

Institutional Source

Beutler Lab

Gene Symbol

Eps15

Ensembl Gene

ENSMUSG00000028552

Gene Name

epidermal growth factor receptor pathway substrate 15

Synonyms

2410112D09Rik

MMRRC Submission

068729-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8826 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109137465-109245014 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109169505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 105 (D105G)

Ref Sequence

ENSEMBL: ENSMUSP00000099790 (fasta)

Gene Model

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

AlphaFold

P42567

PDB Structure

AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPS15 DPF PEPTIDE [X-RAY DIFFRACTION]
AP-2 CLATHRIN ADAPTOR ALPHA-APPENDAGE IN COMPLEX WITH EPS15 DPF PEPTIDE [X-RAY DIFFRACTION]
SOLUTION STRUCTURE OF THE APO EH1 DOMAIN OF MOUSE EPIDERMAL GROWTH FACTOR RECEPTOR SUBSTRATE 15, EPS15 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102729
AA Change: D105G

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099790
Gene: ENSMUSG00000028552
AA Change: D105G

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 damaging
Transcript: ENSMUST00000132165
AA Change: D105G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118949
Gene: ENSMUSG00000028552
AA Change: D105G

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 damaging
Transcript: ENSMUST00000175776
AA Change: D105G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135270
Gene: ENSMUSG00000028552
AA Change: D105G

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

possibly damaging
Transcript: ENSMUST00000176251
AA Change: D105G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135034
Gene: ENSMUSG00000028552
AA Change: D105G

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 damaging
Transcript: ENSMUST00000177089
AA Change: D73G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134922
Gene: ENSMUSG00000028552
AA Change: D73G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (91/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	T	C	8: 124,619,978 (GRCm39)	M121V	probably damaging	Het
AI987944	A	T	7: 41,024,627 (GRCm39)	H120Q	possibly damaging	Het
Aldh9a1	C	G	1: 167,184,119 (GRCm39)	P205A	probably damaging	Het
Ank2	A	T	3: 126,740,951 (GRCm39)	N1644K	unknown	Het
Arfgef2	A	T	2: 166,677,386 (GRCm39)		probably benign	Het
Bpifb4	G	T	2: 153,783,817 (GRCm39)	V54L	probably benign	Het
Cacna1c	T	A	6: 118,711,836 (GRCm39)	M456L		Het
Cbln1	T	C	8: 88,198,420 (GRCm39)	N95S	probably benign	Het
Ccl11	G	T	11: 81,953,044 (GRCm39)	R67S	possibly damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Cd2bp2	A	T	7: 126,793,257 (GRCm39)	M283K	probably damaging	Het
Cd86	G	T	16: 36,435,650 (GRCm39)	L256I	possibly damaging	Het
Ces2f	T	A	8: 105,679,734 (GRCm39)	F409Y	probably benign	Het
Cisd3	A	T	11: 97,579,158 (GRCm39)	Q100L	probably damaging	Het
Cntnap1	C	T	11: 101,077,655 (GRCm39)	R1106C	probably damaging	Het
Col6a2	A	T	10: 76,439,433 (GRCm39)	M777K	probably damaging	Het
Cp	A	G	3: 20,039,739 (GRCm39)	Y852C	probably damaging	Het
Ddx1	T	C	12: 13,277,332 (GRCm39)	E523G	probably damaging	Het
Ddx60	T	A	8: 62,398,990 (GRCm39)	D236E	probably benign	Het
Dnah9	A	T	11: 65,740,742 (GRCm39)	F4148Y	probably benign	Het
Dusp6	G	T	10: 99,099,469 (GRCm39)		probably benign	Het
Eif2a	C	A	3: 58,456,049 (GRCm39)	Y349*	probably null	Het
Enpep	G	A	3: 129,065,067 (GRCm39)	T874I	probably damaging	Het
Ess2	A	T	16: 17,722,954 (GRCm39)	M320K	probably damaging	Het
Exosc10	G	A	4: 148,653,159 (GRCm39)		probably null	Het
Fam13b	A	T	18: 34,631,070 (GRCm39)	N36K	probably damaging	Het
Fanca	T	C	8: 123,995,209 (GRCm39)	D1431G	probably benign	Het
Fgg	A	G	3: 82,921,625 (GRCm39)	D436G	probably benign	Het
Fip1l1	C	T	5: 74,725,188 (GRCm39)	T251I	probably benign	Het
Galnt2	A	G	8: 125,032,347 (GRCm39)	N104S	probably damaging	Het
Gmip	T	C	8: 70,268,748 (GRCm39)	S458P	possibly damaging	Het
Herc2	A	G	7: 55,756,144 (GRCm39)	D728G	probably benign	Het
Hif3a	A	G	7: 16,788,671 (GRCm39)	L100P	probably damaging	Het
Hmox2	C	G	16: 4,583,866 (GRCm39)	P282R	possibly damaging	Het
Hook1	A	T	4: 95,880,432 (GRCm39)	H90L	probably benign	Het
Igf2bp2	C	A	16: 21,883,866 (GRCm39)	G473C	probably damaging	Het
Ip6k2	T	C	9: 108,675,379 (GRCm39)		probably null	Het
Ipo5	G	T	14: 121,157,366 (GRCm39)	R68L	probably damaging	Het
Kif19b	A	G	5: 140,455,434 (GRCm39)	M347V	probably damaging	Het
Klhdc1	G	T	12: 69,305,392 (GRCm39)	W234L	probably damaging	Het
Krt8	A	G	15: 101,909,870 (GRCm39)	V178A	possibly damaging	Het
Lgi3	T	A	14: 70,768,712 (GRCm39)		probably null	Het
Litaf	T	G	16: 10,784,421 (GRCm39)	N30H	probably benign	Het
Lman2	C	A	13: 55,510,368 (GRCm39)	W12L	unknown	Het
Macf1	A	G	4: 123,276,022 (GRCm39)	L6182P	probably damaging	Het
Magi3	A	T	3: 103,992,662 (GRCm39)	M270K	probably benign	Het
Mapre2	A	T	18: 23,886,888 (GRCm39)		probably benign	Het
Minar1	T	A	9: 89,483,234 (GRCm39)	E721V	probably damaging	Het
Mllt10	T	A	2: 18,167,353 (GRCm39)	V426D	probably benign	Het
Mrgprf	A	G	7: 144,862,046 (GRCm39)	I203V	probably benign	Het
Mrnip	G	A	11: 50,067,688 (GRCm39)	C27Y	probably damaging	Het
Mrpl24	C	T	3: 87,829,701 (GRCm39)	R96*	probably null	Het
Nbas	T	A	12: 13,402,875 (GRCm39)		probably benign	Het
Nipal4	G	A	11: 46,045,470 (GRCm39)	T131M	possibly damaging	Het
Nlrp12	T	C	7: 3,289,621 (GRCm39)	D297G	possibly damaging	Het
Nol6	A	C	4: 41,121,823 (GRCm39)	M237R	probably benign	Het
Olig1	A	G	16: 91,067,027 (GRCm39)	E88G	probably benign	Het
Or1j19	T	A	2: 36,676,855 (GRCm39)	L106*	probably null	Het
Parg	A	G	14: 31,931,175 (GRCm39)	D265G	possibly damaging	Het
Pcdhgb8	A	T	18: 37,895,301 (GRCm39)	I124L	probably damaging	Het
Pign	A	G	1: 105,481,827 (GRCm39)	F822L	probably damaging	Het
Plch2	T	C	4: 155,071,140 (GRCm39)	T1080A	probably benign	Het
Pld4	A	T	12: 112,733,210 (GRCm39)	Y262F	possibly damaging	Het
Ppp1r12b	A	G	1: 134,693,730 (GRCm39)	V977A	probably benign	Het
Ppp6r3	C	T	19: 3,521,984 (GRCm39)	E565K		Het
Psmg2	A	G	18: 67,787,158 (GRCm39)		probably benign	Het
Ptcd3	C	T	6: 71,885,645 (GRCm39)	G27D	probably benign	Het
Retreg2	G	T	1: 75,119,525 (GRCm39)	G7C	unknown	Het
Rlbp1	A	T	7: 79,027,114 (GRCm39)	F182Y	probably benign	Het
Rnf148	G	C	6: 23,654,378 (GRCm39)	S206C	probably benign	Het
Sash1	A	G	10: 8,637,869 (GRCm39)	M1T	probably null	Het
Shank3	A	T	15: 89,433,598 (GRCm39)	T1448S	probably damaging	Het
Sipa1l1	A	G	12: 82,389,207 (GRCm39)	K478E	probably damaging	Het
Slitrk6	A	G	14: 110,988,801 (GRCm39)	I302T	probably benign	Het
Smc1b	A	G	15: 84,950,529 (GRCm39)	V1165A	probably damaging	Het
Sncaip	A	T	18: 53,048,381 (GRCm39)	H939L	probably benign	Het
Stn1	T	C	19: 47,524,709 (GRCm39)	D27G	probably damaging	Het
Sugct	T	G	13: 17,427,180 (GRCm39)		probably null	Het
Tmem259	A	G	10: 79,814,983 (GRCm39)	S214P	probably damaging	Het
Trdv4	G	A	14: 54,312,946 (GRCm39)	G107S	probably damaging	Het
Ttc3	C	T	16: 94,232,829 (GRCm39)	L957F	possibly damaging	Het
Ttn	A	G	2: 76,711,471 (GRCm39)	Y8357H	unknown	Het
Twnk	T	C	19: 44,996,434 (GRCm39)	V289A	probably benign	Het
Umodl1	A	G	17: 31,202,958 (GRCm39)	D437G	possibly damaging	Het
Upf1	T	C	8: 70,790,930 (GRCm39)	T590A	probably benign	Het
Vmn2r63	A	T	7: 42,576,441 (GRCm39)	D457E	probably benign	Het
Wdr82	A	T	9: 106,061,975 (GRCm39)	T213S	probably benign	Het
Zfp267	T	C	3: 36,218,255 (GRCm39)	Y93H	possibly damaging	Het
Zfp672	A	T	11: 58,220,590 (GRCm39)	M3K	unknown	Het
Zfyve26	A	G	12: 79,285,742 (GRCm39)	V2345A	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
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
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'- GTTCCACTGTGAAGTAATTTGGC -3'
(R):5'- AGAGCTAAGGCATTCCTCAAG -3'

Sequencing Primer
(F):5'- CCACTGTGAAGTAATTTGGCAAAATG -3'
(R):5'- GTAAGTCCAGTGCAGAACA -3'

Posted On

2021-07-15