Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02951:Eps15l1'

366013

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eps15l1

Ensembl Gene

ENSMUSG00000006276

Gene Name

epidermal growth factor receptor pathway substrate 15-like 1

Synonyms

Eps15-rs, 9830147J04Rik, Eps15R

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

IGL02951

Quality Score

Status

Chromosome

Chromosomal Location

73094843-73175304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73112240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 764 (S764L)

Ref Sequence

ENSEMBL: ENSMUSP00000129739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163643] [ENSMUST00000212121]

AlphaFold

Q60902

Predicted Effect

probably benign
Transcript: ENSMUST00000163643
AA Change: S764L

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: S764L

Domain	Start	End	E-Value	Type
EH	8	103	1.45e-21	SMART
EFh	52	80	6.56e0	SMART
EH	120	214	6.1e-47	SMART
EFh	163	191	4.35e-2	SMART
low complexity region	241	255	N/A	INTRINSIC
EH	266	362	5.08e-44	SMART
EFh	276	304	1.09e0	SMART
coiled coil region	381	564	N/A	INTRINSIC
internal_repeat_2	615	656	1.56e-6	PROSPERO
low complexity region	661	678	N/A	INTRINSIC
low complexity region	701	722	N/A	INTRINSIC
low complexity region	728	743	N/A	INTRINSIC
low complexity region	746	764	N/A	INTRINSIC
low complexity region	775	790	N/A	INTRINSIC
internal_repeat_2	809	839	1.56e-6	PROSPERO
low complexity region	840	853	N/A	INTRINSIC
UIM	863	882	3.98e1	SMART
UIM	889	907	3.76e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212950

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,290,536 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,665,868 (GRCm39)	T291I	probably benign	Het
Adam34l	T	G	8: 44,080,125 (GRCm39)	H33P	possibly damaging	Het
Atp13a3	A	G	16: 30,157,439 (GRCm39)		probably null	Het
Atp2a1	C	T	7: 126,049,399 (GRCm39)	V548M	possibly damaging	Het
Bsn	G	A	9: 107,992,812 (GRCm39)	S980L	probably damaging	Het
Ccdc158	A	G	5: 92,797,865 (GRCm39)	M425T	probably damaging	Het
Cdh23	A	G	10: 60,147,143 (GRCm39)	L2733S	probably damaging	Het
Chd3	C	T	11: 69,251,874 (GRCm39)		probably null	Het
Cimap1d	T	C	10: 79,475,811 (GRCm39)	N251S	probably benign	Het
Dock2	T	C	11: 34,260,448 (GRCm39)		probably benign	Het
Elfn2	T	C	15: 78,556,082 (GRCm39)	K822E	probably damaging	Het
Etl4	C	A	2: 20,806,348 (GRCm39)		probably benign	Het
Faap24	C	A	7: 35,092,376 (GRCm39)	K180N	probably damaging	Het
Fhod1	G	A	8: 106,057,862 (GRCm39)	R888W	probably damaging	Het
Fus	T	C	7: 127,581,009 (GRCm39)		probably benign	Het
Gm3453	T	C	14: 5,976,168 (GRCm38)	E201G	possibly damaging	Het
Gnpat	G	T	8: 125,597,644 (GRCm39)	D69Y	probably benign	Het
Gpaa1	T	A	15: 76,217,019 (GRCm39)		probably benign	Het
Gsta1	A	T	9: 78,149,819 (GRCm39)	K211*	probably null	Het
Lct	G	T	1: 128,227,948 (GRCm39)	Q1182K	probably damaging	Het
Mroh1	T	C	15: 76,311,836 (GRCm39)	L523P	probably damaging	Het
Mrpl46	A	G	7: 78,425,200 (GRCm39)		probably benign	Het
Mst1r	G	T	9: 107,785,403 (GRCm39)	V354F	possibly damaging	Het
Myo15b	A	G	11: 115,772,127 (GRCm39)	D299G	probably damaging	Het
Myo6	G	A	9: 80,171,516 (GRCm39)	V506I	possibly damaging	Het
Nadk	A	C	4: 155,671,933 (GRCm39)	K271Q	probably benign	Het
Nbas	A	G	12: 13,412,542 (GRCm39)	R954G	probably benign	Het
Nbr1	T	A	11: 101,462,805 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,835,698 (GRCm39)	D587G	possibly damaging	Het
Oas1a	A	T	5: 121,043,727 (GRCm39)	F135Y	probably damaging	Het
Obscn	A	G	11: 58,885,339 (GRCm39)		probably benign	Het
Or4k42	T	G	2: 111,320,465 (GRCm39)	I13L	probably benign	Het
Parp14	G	A	16: 35,678,903 (GRCm39)	T355I	probably benign	Het
Pdgfd	G	T	9: 6,288,494 (GRCm39)	L43F	probably damaging	Het
Pou5f2	T	C	13: 78,173,237 (GRCm39)	S60P	probably benign	Het
Prp2	A	G	6: 132,576,788 (GRCm39)	N25S	unknown	Het
Ptprq	A	T	10: 107,503,321 (GRCm39)	F779Y	probably benign	Het
Rims2	C	T	15: 39,398,334 (GRCm39)	R1078C	probably damaging	Het
Rnf38	G	T	4: 44,129,619 (GRCm39)	S425*	probably null	Het
Rps21	T	A	2: 179,899,840 (GRCm39)	I59N	probably damaging	Het
Scn5a	A	T	9: 119,324,751 (GRCm39)	F1359Y	probably damaging	Het
Slc35b2	A	G	17: 45,875,694 (GRCm39)	E67G	probably damaging	Het
Slc37a2	A	G	9: 37,166,611 (GRCm39)	F15L	probably benign	Het
Snapc4	A	C	2: 26,260,847 (GRCm39)	N465K	probably benign	Het
Spata31f1a	C	T	4: 42,850,696 (GRCm39)	E487K	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Taco1	A	G	11: 105,960,353 (GRCm39)	N98S	probably benign	Het
Tcea3	T	C	4: 135,985,299 (GRCm39)		probably null	Het
Thada	T	C	17: 84,751,456 (GRCm39)	S507G	probably benign	Het
Tmem132b	T	A	5: 125,864,611 (GRCm39)	C906S	probably damaging	Het
Trpm2	A	T	10: 77,765,112 (GRCm39)	I963N	possibly damaging	Het
Usp10	A	G	8: 120,673,825 (GRCm39)	T397A	probably benign	Het
Usp3	G	A	9: 66,449,832 (GRCm39)	R160*	probably null	Het
Utp15	T	C	13: 98,394,460 (GRCm39)	Y144C	probably damaging	Het
Xpc	G	A	6: 91,483,831 (GRCm39)	R172W	probably damaging	Het

Other mutations in Eps15l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Eps15l1	APN	8	73,138,682 (GRCm39)	nonsense	probably null
IGL01316:Eps15l1	APN	8	73,143,258 (GRCm39)	missense	possibly damaging	0.66
IGL01344:Eps15l1	APN	8	73,136,169 (GRCm39)	critical splice donor site	probably null
IGL01918:Eps15l1	APN	8	73,121,756 (GRCm39)	missense	possibly damaging	0.49
IGL01982:Eps15l1	APN	8	73,132,919 (GRCm39)	missense	probably benign	0.28
IGL02305:Eps15l1	APN	8	73,140,853 (GRCm39)	missense	probably null	1.00
IGL02939:Eps15l1	APN	8	73,138,606 (GRCm39)	splice site	probably benign
R0025:Eps15l1	UTSW	8	73,135,341 (GRCm39)	splice site	probably benign
R0025:Eps15l1	UTSW	8	73,135,341 (GRCm39)	splice site	probably benign
R0030:Eps15l1	UTSW	8	73,126,894 (GRCm39)	missense	probably benign	0.03
R0030:Eps15l1	UTSW	8	73,126,894 (GRCm39)	missense	probably benign	0.03
R0799:Eps15l1	UTSW	8	73,099,929 (GRCm39)	missense	probably damaging	0.99
R1300:Eps15l1	UTSW	8	73,145,746 (GRCm39)	missense	probably damaging	0.99
R2131:Eps15l1	UTSW	8	73,140,712 (GRCm39)	missense	probably benign	0.05
R2132:Eps15l1	UTSW	8	73,140,712 (GRCm39)	missense	probably benign	0.05
R2133:Eps15l1	UTSW	8	73,140,712 (GRCm39)	missense	probably benign	0.05
R3693:Eps15l1	UTSW	8	73,152,904 (GRCm39)	splice site	probably benign
R4072:Eps15l1	UTSW	8	73,134,128 (GRCm39)	missense	probably damaging	1.00
R4074:Eps15l1	UTSW	8	73,134,128 (GRCm39)	missense	probably damaging	1.00
R4076:Eps15l1	UTSW	8	73,134,128 (GRCm39)	missense	probably damaging	1.00
R4485:Eps15l1	UTSW	8	73,153,531 (GRCm39)	missense	possibly damaging	0.78
R4592:Eps15l1	UTSW	8	73,095,238 (GRCm39)	missense	probably damaging	0.96
R4606:Eps15l1	UTSW	8	73,127,760 (GRCm39)	missense	possibly damaging	0.69
R4981:Eps15l1	UTSW	8	73,132,833 (GRCm39)	critical splice donor site	probably null
R5496:Eps15l1	UTSW	8	73,136,619 (GRCm39)	missense	probably benign	0.00
R5502:Eps15l1	UTSW	8	73,132,836 (GRCm39)	splice site	probably null
R5682:Eps15l1	UTSW	8	73,125,592 (GRCm39)	nonsense	probably null
R6326:Eps15l1	UTSW	8	73,095,278 (GRCm39)	nonsense	probably null
R6384:Eps15l1	UTSW	8	73,122,554 (GRCm39)	critical splice donor site	probably null
R7305:Eps15l1	UTSW	8	73,126,878 (GRCm39)	missense	probably benign
R7500:Eps15l1	UTSW	8	73,136,634 (GRCm39)	missense	probably damaging	1.00
R7732:Eps15l1	UTSW	8	73,134,820 (GRCm39)	missense	probably damaging	1.00
R8980:Eps15l1	UTSW	8	73,127,734 (GRCm39)	missense	probably benign	0.00
R9065:Eps15l1	UTSW	8	73,145,762 (GRCm39)	nonsense	probably null
R9238:Eps15l1	UTSW	8	73,095,274 (GRCm39)	missense	probably damaging	1.00
Z1088:Eps15l1	UTSW	8	73,140,745 (GRCm39)	missense	probably damaging	0.99
Z1177:Eps15l1	UTSW	8	73,135,281 (GRCm39)	missense	probably benign	0.37
Z1177:Eps15l1	UTSW	8	73,126,922 (GRCm39)	critical splice acceptor site	probably null

Posted On

2015-12-18