Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Eps15l1'

316472

Institutional Source

Beutler Lab

Gene Symbol

Eps15l1

Ensembl Gene

ENSMUSG00000006276

Gene Name

epidermal growth factor receptor pathway substrate 15-like 1

Synonyms

Eps15-rs, 9830147J04Rik, Eps15R

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73094843-73175304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73134128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 482 (I482T)

Ref Sequence

ENSEMBL: ENSMUSP00000148468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163643] [ENSMUST00000212121] [ENSMUST00000212590]

AlphaFold

Q60902

Predicted Effect

probably damaging
Transcript: ENSMUST00000163643
AA Change: I482T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: I482T

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 damaging
Transcript: ENSMUST00000212121
AA Change: I482T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212590
AA Change: I482T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212950

Meta Mutation Damage Score

0.1266

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,485,401 (GRCm39)	E422G	probably damaging	Het
Ace3	A	G	11: 105,888,040 (GRCm39)	Y287C	probably damaging	Het
Adam34l	A	T	8: 44,079,387 (GRCm39)	F279Y	probably damaging	Het
Albfm1	T	A	5: 90,740,727 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,187,330 (GRCm39)	A510T	probably damaging	Het
Atg12	A	G	18: 46,870,491 (GRCm39)	F92L	probably benign	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Chgb	C	A	2: 132,635,847 (GRCm39)	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,947,849 (GRCm39)	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Crb2	G	T	2: 37,676,855 (GRCm39)	C251F	probably damaging	Het
Crybg3	A	T	16: 59,376,120 (GRCm39)		probably benign	Het
Cytl1	A	G	5: 37,892,940 (GRCm39)	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,492,123 (GRCm39)		probably benign	Het
Depp1	A	G	6: 116,629,029 (GRCm39)	N124S	possibly damaging	Het
Dnah11	A	G	12: 118,009,413 (GRCm39)	M2083T	probably benign	Het
Dst	A	G	1: 34,231,350 (GRCm39)	E2656G	probably benign	Het
Dst	T	C	1: 34,267,542 (GRCm39)	F4995L	probably damaging	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Ero1a	A	T	14: 45,529,893 (GRCm39)		probably null	Het
Etl4	T	C	2: 20,814,030 (GRCm39)		probably benign	Het
Fcho1	T	C	8: 72,163,013 (GRCm39)	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,684,139 (GRCm39)	D289G	probably damaging	Het
Gm5134	T	A	10: 75,844,365 (GRCm39)	W574R	probably damaging	Het
Gm5414	T	C	15: 101,533,988 (GRCm39)	N332D	probably benign	Het
Gnb3	T	A	6: 124,813,942 (GRCm39)	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,781,021 (GRCm39)		noncoding transcript	Het
Ighv1-4	A	G	12: 114,451,147 (GRCm39)	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,702,505 (GRCm39)	Y74*	probably null	Het
Il17f	G	A	1: 20,847,987 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,274,742 (GRCm39)		probably null	Het
Krtap31-1	T	C	11: 99,799,058 (GRCm39)	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,917,889 (GRCm39)	F85Y	probably benign	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Myh7b	T	C	2: 155,460,678 (GRCm39)	I277T	probably damaging	Het
Myo3b	T	C	2: 70,119,808 (GRCm39)	F984S	probably damaging	Het
Naip5	G	A	13: 100,382,572 (GRCm39)	R46W	probably damaging	Het
Nup205	T	A	6: 35,168,975 (GRCm39)		probably null	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Pde11a	C	T	2: 76,168,242 (GRCm39)	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865 (GRCm39)	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,356 (GRCm39)		probably null	Het
Pramel33	A	T	5: 93,633,057 (GRCm39)	M50K	probably damaging	Het
Psg23	A	T	7: 18,341,043 (GRCm39)	S404T	possibly damaging	Het
Rev1	T	G	1: 38,093,319 (GRCm39)	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,805,030 (GRCm39)	Q1045P	probably benign	Het
Scg2	A	C	1: 79,414,574 (GRCm39)	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,311,629 (GRCm39)	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,213,950 (GRCm39)	I57K	possibly damaging	Het
Srp72	C	A	5: 77,146,098 (GRCm39)	T633K	probably benign	Het
Swt1	A	G	1: 151,270,520 (GRCm39)	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606 (GRCm39)	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,890,845 (GRCm39)	N396S	probably benign	Het
Tuba8	T	A	6: 121,199,756 (GRCm39)	S147T	probably damaging	Het
Usp8	A	G	2: 126,594,290 (GRCm39)	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,304,566 (GRCm39)	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,764,374 (GRCm39)	H417L	possibly damaging	Het
Zfp608	A	T	18: 55,031,180 (GRCm39)	V920E	probably damaging	Het
Zmym2	T	C	14: 57,140,461 (GRCm39)	L100P	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
IGL02951:Eps15l1	APN	8	73,112,240 (GRCm39)	missense	probably benign	0.19
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
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

Predicted Primers

PCR Primer
(F):5'- TGATGTCATCCTGTGTGCAC -3'
(R):5'- CTGGCTATGCAGACTCCTTATGC -3'

Sequencing Primer
(F):5'- ATCCTGTGTGCACTTCAGGGAC -3'
(R):5'- CTATGCAGACTCCTTATGCTTTATAC -3'

Posted On

2015-05-15