Mutagenetix > Incidental Mutation

Incidental Mutation 'R5496:Eps15l1'

432350

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

043057-MU

Accession Numbers

Essential gene?

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

Stock #

R5496 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73094843-73175304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73136619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 336 (Y336H)

Ref Sequence

ENSEMBL: ENSMUSP00000148484 (fasta)

Gene Model

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

AlphaFold

Q60902

Predicted Effect

probably benign
Transcript: ENSMUST00000163643
AA Change: Y336H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: Y336H

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
AA Change: Y336H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212590
AA Change: Y336H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212950

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,724,818 (GRCm39)	V84I	probably benign	Het
Adam10	T	G	9: 70,630,021 (GRCm39)	F151C	probably damaging	Het
Akap6	A	G	12: 53,187,436 (GRCm39)	S1617G	possibly damaging	Het
Ano6	T	A	15: 95,865,495 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,683,911 (GRCm39)	T524A	probably benign	Het
Bicra	C	T	7: 15,721,766 (GRCm39)	V584I	probably benign	Het
Carmil1	G	A	13: 24,339,433 (GRCm39)	R54C	probably damaging	Het
Cbln1	A	G	8: 88,198,324 (GRCm39)	I127T	possibly damaging	Het
Ccl26	A	G	5: 135,592,217 (GRCm39)	V40A	probably benign	Het
Cdh20	T	A	1: 109,976,647 (GRCm39)	I104N	probably damaging	Het
Cdt1	C	T	8: 123,297,239 (GRCm39)	R311W	probably damaging	Het
Cfap91	A	G	16: 38,141,855 (GRCm39)	I359T	probably damaging	Het
Col12a1	A	G	9: 79,509,467 (GRCm39)		probably benign	Het
Csf2rb	A	G	15: 78,224,761 (GRCm39)	E173G	probably damaging	Het
Cyb561	A	G	11: 105,828,545 (GRCm39)	Y94H	probably damaging	Het
Cyp3a16	T	A	5: 145,404,341 (GRCm39)	K34M	probably damaging	Het
Diras2	C	T	13: 52,661,786 (GRCm39)	V174M	probably benign	Het
Dnah7a	T	G	1: 53,496,927 (GRCm39)	M3110L	probably benign	Het
Dyrk2	T	C	10: 118,695,956 (GRCm39)	E434G	probably damaging	Het
Ebag9	T	G	15: 44,503,816 (GRCm39)	*214E	probably null	Het
Egln3	A	T	12: 54,250,110 (GRCm39)	W80R	probably damaging	Het
Gak	A	G	5: 108,724,483 (GRCm39)	S1076P	probably benign	Het
Glra1	T	C	11: 55,418,241 (GRCm39)	Y168C	probably damaging	Het
Glrx2	T	A	1: 143,620,945 (GRCm39)	M108K	probably damaging	Het
Gm3604	A	T	13: 62,519,393 (GRCm39)	S59T	possibly damaging	Het
Gm8212	A	T	14: 44,438,614 (GRCm39)		probably benign	Het
Gmcl1	G	T	6: 86,674,507 (GRCm39)	A457D	probably damaging	Het
H2-M11	T	C	17: 36,858,871 (GRCm39)	F137S	possibly damaging	Het
Ighv1-55	C	G	12: 115,172,140 (GRCm39)	W3S	probably damaging	Het
Il22	T	G	10: 118,041,002 (GRCm39)	V36G	possibly damaging	Het
Ints1	G	A	5: 139,740,953 (GRCm39)	A1904V	probably benign	Het
Iqgap2	A	G	13: 95,766,561 (GRCm39)	Y1481H	probably damaging	Het
Kcnn3	C	T	3: 89,516,797 (GRCm39)	A402V	possibly damaging	Het
Kif18b	A	T	11: 102,804,568 (GRCm39)	I362N	possibly damaging	Het
Kif5c	C	G	2: 49,620,202 (GRCm39)	A223G	possibly damaging	Het
Kntc1	A	G	5: 123,922,245 (GRCm39)	D948G	probably benign	Het
Krba1	A	G	6: 48,383,290 (GRCm39)	T229A	possibly damaging	Het
Leprot	T	A	4: 101,515,093 (GRCm39)	I113N	probably damaging	Het
Lrp1b	T	C	2: 40,817,985 (GRCm39)	D2415G	probably benign	Het
Mnd1	T	A	3: 83,995,481 (GRCm39)	D171V	probably damaging	Het
Mthfsd	A	T	8: 121,825,553 (GRCm39)	Y339*	probably null	Het
Nfatc2	G	A	2: 168,378,198 (GRCm39)	T268M	probably damaging	Het
Or14j10	T	C	17: 37,935,469 (GRCm39)	D19G	probably benign	Het
Or52d3	G	C	7: 104,229,701 (GRCm39)	A283P	probably damaging	Het
Or8h7	G	T	2: 86,720,658 (GRCm39)	P287Q	probably damaging	Het
Or8h7	G	C	2: 86,720,659 (GRCm39)	P287A	probably damaging	Het
Pan3	G	A	5: 147,463,938 (GRCm39)		probably null	Het
Pde6a	A	T	18: 61,386,736 (GRCm39)		probably null	Het
Prss39	T	C	1: 34,539,342 (GRCm39)	I194T	possibly damaging	Het
Rfx8	T	C	1: 39,709,507 (GRCm39)	S507G	probably benign	Het
Rif1	T	C	2: 51,988,928 (GRCm39)	S774P	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Smurf1	C	A	5: 144,819,403 (GRCm39)	E601*	probably null	Het
Stau2	T	C	1: 16,460,245 (GRCm39)	S231G	probably damaging	Het
Timp2	T	G	11: 118,194,707 (GRCm39)	M161L	probably benign	Het
Tlr5	T	C	1: 182,801,197 (GRCm39)	L167P	probably damaging	Het
Trhr	G	A	15: 44,060,932 (GRCm39)	A151T	probably benign	Het
Unc13d	A	G	11: 115,957,534 (GRCm39)	V807A	probably damaging	Het
Usp2	T	C	9: 43,996,505 (GRCm39)	V7A	possibly damaging	Het
Uspl1	A	G	5: 149,146,589 (GRCm39)	T447A	probably damaging	Het
Zan	A	G	5: 137,434,607 (GRCm39)	I2232T	unknown	Het
Zfp12	C	A	5: 143,230,550 (GRCm39)	C292*	probably null	Het
Zfp850	A	C	7: 27,706,771 (GRCm39)	M43R	probably damaging	Het
Zic5	G	A	14: 122,696,755 (GRCm39)	T620M	unknown	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
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
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'- GGTGGCCCAATCAAAGGATC -3'
(R):5'- TCCTTAAGGAAGTGCTCATCAGC -3'

Sequencing Primer
(F):5'- CAAACGTGGCCTGGAGACTG -3'
(R):5'- TGGGAACATGGAGGCAGTGC -3'

Posted On

2016-10-05