Mutagenetix > Incidental Mutation

Incidental Mutation 'R6291:Eps15'

508408

Institutional Source

Beutler Lab

Gene Symbol

Eps15

Ensembl Gene

ENSMUSG00000028552

Gene Name

epidermal growth factor receptor pathway substrate 15

Synonyms

2410112D09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6291 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

109137465-109245014 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAAA to CAA at 109162900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134922 (fasta)

Gene Model

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

AlphaFold

P42567

Predicted Effect

probably null
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

probably null
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

noncoding transcript
Transcript: ENSMUST00000141751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150755

Predicted Effect

probably null
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 null
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

probably null
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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (86/88)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	T	8: 87,293,173 (GRCm39)	G5D	possibly damaging	Het
Adamts9	T	C	6: 92,867,101 (GRCm39)	K95R	probably damaging	Het
Adap1	G	T	5: 139,259,246 (GRCm39)	L314M	probably benign	Het
Alkbh1	T	A	12: 87,475,864 (GRCm39)	E306V	possibly damaging	Het
Alpk2	T	A	18: 65,438,972 (GRCm39)	D1274V	possibly damaging	Het
Ankrd31	A	C	13: 97,014,746 (GRCm39)	K1188N	possibly damaging	Het
Aox1	T	A	1: 58,369,965 (GRCm39)	M759K	probably damaging	Het
Atp13a3	T	A	16: 30,155,061 (GRCm39)	D961V	probably damaging	Het
Bcl11a	G	A	11: 24,108,321 (GRCm39)	G100R	probably damaging	Het
Bpifc	G	A	10: 85,812,122 (GRCm39)	A362V	probably damaging	Het
Btaf1	C	T	19: 36,950,408 (GRCm39)	T546I	probably benign	Het
Casd1	C	A	6: 4,619,834 (GRCm39)	P193Q	probably damaging	Het
Cdhr1	T	C	14: 36,811,422 (GRCm39)	T230A	probably benign	Het
Celsr3	T	G	9: 108,706,041 (GRCm39)	D841E	probably damaging	Het
Cenpj	T	C	14: 56,789,433 (GRCm39)	D872G	probably benign	Het
Cep95	G	T	11: 106,706,422 (GRCm39)	A559S	probably damaging	Het
Chpt1	A	T	10: 88,311,306 (GRCm39)	C62*	probably null	Het
Cspg4b	T	A	13: 113,456,981 (GRCm39)	I1009N	possibly damaging	Het
Cspp1	A	G	1: 10,134,559 (GRCm39)	K103R	probably damaging	Het
Ctla4	T	C	1: 60,951,837 (GRCm39)	V122A	probably benign	Het
Cyp3a11	A	G	5: 145,799,237 (GRCm39)	F317L	possibly damaging	Het
Daam1	T	C	12: 71,993,025 (GRCm39)	L338P	unknown	Het
Dcc	T	A	18: 71,815,238 (GRCm39)	I379L	probably benign	Het
Dennd2c	C	A	3: 103,038,925 (GRCm39)	C24*	probably null	Het
Dnai3	G	A	3: 145,772,648 (GRCm39)	S466L	probably benign	Het
Dnajc12	A	G	10: 63,233,053 (GRCm39)	I65V	probably benign	Het
Dock3	T	A	9: 106,785,631 (GRCm39)	M208L	probably benign	Het
Dsg1b	T	C	18: 20,537,848 (GRCm39)	I588T	possibly damaging	Het
Eif1b	T	C	9: 120,323,206 (GRCm39)	L22S	probably benign	Het
Ep300	T	A	15: 81,532,708 (GRCm39)	S1649T	unknown	Het
Ercc6	A	T	14: 32,291,943 (GRCm39)	E1102D	probably benign	Het
Gsdmc3	T	C	15: 63,732,090 (GRCm39)	N312S	probably benign	Het
Guca2b	A	T	4: 119,514,890 (GRCm39)	L57Q	probably damaging	Het
Heatr5b	G	T	17: 79,069,526 (GRCm39)	H1740Q	probably benign	Het
Hecw1	G	A	13: 14,697,592 (GRCm39)		probably benign	Het
Icam5	A	G	9: 20,948,217 (GRCm39)	H675R	probably benign	Het
Il18rap	T	C	1: 40,564,049 (GRCm39)	F56L	probably benign	Het
Iqgap3	T	A	3: 87,997,037 (GRCm39)		probably null	Het
Itsn1	T	C	16: 91,664,984 (GRCm39)		probably benign	Het
Jakmip3	A	T	7: 138,622,585 (GRCm39)	D315V	probably damaging	Het
Kif24	A	G	4: 41,413,959 (GRCm39)	Y328H	probably damaging	Het
Kmt2a	A	T	9: 44,744,171 (GRCm39)		probably benign	Het
Kng1	A	G	16: 22,898,475 (GRCm39)	E625G	probably damaging	Het
Man2b1	C	T	8: 85,823,675 (GRCm39)	T973I	probably benign	Het
Masp2	G	A	4: 148,687,210 (GRCm39)	V31M	probably damaging	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naa15	G	A	3: 51,350,212 (GRCm39)	G103D	probably damaging	Het
Or4f15	A	G	2: 111,813,969 (GRCm39)	V150A	probably benign	Het
Or5m11b	A	G	2: 85,805,926 (GRCm39)	Y113C	probably damaging	Het
Or7e177	T	A	9: 20,211,899 (GRCm39)	D134E	probably damaging	Het
Papln	A	G	12: 83,829,789 (GRCm39)	N970S	probably benign	Het
Pick1	T	A	15: 79,135,928 (GRCm39)		probably null	Het
Pigr	A	C	1: 130,769,498 (GRCm39)	D103A	probably benign	Het
Plekhf1	A	C	7: 37,921,029 (GRCm39)	F180V	possibly damaging	Het
Plxnc1	A	G	10: 94,669,504 (GRCm39)		probably null	Het
Polr3f	A	G	2: 144,376,308 (GRCm39)	I136V	probably damaging	Het
Ppp2r2c	T	C	5: 37,097,468 (GRCm39)	M218T	possibly damaging	Het
Prox2	C	T	12: 85,136,420 (GRCm39)	V466I	probably damaging	Het
Prrc2a	G	A	17: 35,373,909 (GRCm39)	L1479F	probably damaging	Het
Rbm24	T	A	13: 46,575,313 (GRCm39)		probably null	Het
Rcc1l	A	T	5: 134,195,560 (GRCm39)		probably null	Het
Ripk4	A	C	16: 97,556,323 (GRCm39)	L140R	probably damaging	Het
Rmnd1	A	T	10: 4,372,135 (GRCm39)	L188Q	probably damaging	Het
Rnf170	C	T	8: 26,630,992 (GRCm39)	P249S	probably damaging	Het
Rras	A	G	7: 44,667,595 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn7a	T	A	2: 66,530,458 (GRCm39)	D629V	probably damaging	Het
Sipa1l3	A	G	7: 29,087,558 (GRCm39)	S556P	probably damaging	Het
Smarca2	C	T	19: 26,608,292 (GRCm39)	A117V	probably damaging	Het
Snca	C	T	6: 60,792,702 (GRCm39)	A69T	probably damaging	Het
Snx2	T	C	18: 53,342,737 (GRCm39)		probably null	Het
Spp1	T	A	5: 104,587,242 (GRCm39)	S109T	possibly damaging	Het
Stoml3	T	C	3: 53,414,937 (GRCm39)	L243P	probably damaging	Het
Susd2	A	G	10: 75,473,408 (GRCm39)	F789L	possibly damaging	Het
Sycp1	A	G	3: 102,816,277 (GRCm39)	M419T	probably damaging	Het
Thoc1	T	C	18: 9,993,330 (GRCm39)	V563A	probably benign	Het
Tmprss11g	T	C	5: 86,635,281 (GRCm39)	I398V	probably damaging	Het
Tox3	A	G	8: 90,975,566 (GRCm39)	L355P	probably damaging	Het
Tpp1	A	G	7: 105,396,223 (GRCm39)	I492T	probably benign	Het
Trim21	A	T	7: 102,213,289 (GRCm39)	L3Q	probably damaging	Het
Ttn	A	C	2: 76,738,080 (GRCm39)	V4153G	probably benign	Het
Ttn	T	C	2: 76,744,638 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,560,756 (GRCm39)	E828G	possibly damaging	Het
Vav3	A	G	3: 109,416,170 (GRCm39)	N263S	possibly damaging	Het
Vmn1r183	A	C	7: 23,754,982 (GRCm39)	T262P	possibly damaging	Het
Vmn2r67	G	A	7: 84,799,142 (GRCm39)	P522S	possibly damaging	Het
Vps35	T	A	8: 86,026,086 (GRCm39)	M1L	probably benign	Het
Xpo7	A	T	14: 70,942,130 (GRCm39)	L79*	probably null	Het
Zc3h14	G	A	12: 98,726,087 (GRCm39)	R324H	probably damaging	Het
Zfp330	T	C	8: 83,499,613 (GRCm39)	T6A	probably damaging	Het
Zfp948	T	A	17: 21,807,286 (GRCm39)	H159Q	unknown	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
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'- GGACATTTGACTAGAAGTTGGGAC -3'
(R):5'- TCACCAAACTTTAGCTATCGGC -3'

Sequencing Primer
(F):5'- AGATCATCTAACCTAGGCCTTCATG -3'
(R):5'- GCTATCGGCTAAATGTTCAGTC -3'

Posted On

2018-03-15