Mutagenetix > Incidental Mutation

Incidental Mutation 'R5502:Eps15l1'

484460

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

043063-MU

Accession Numbers

Essential gene?

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

Stock #

R5502 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73094843-73175304 bp(-) (GRCm39)

Type of Mutation

splice site (92 bp from exon)

DNA Base Change (assembly)

A to T at 73132836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148468 (fasta)

Gene Model

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

AlphaFold

Q60902

Predicted Effect

probably benign
Transcript: ENSMUST00000163643
AA Change: M595K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000129739
Gene: ENSMUSG00000006276
AA Change: M595K

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 null
Transcript: ENSMUST00000212121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212257

Predicted Effect

probably benign
Transcript: ENSMUST00000212590
AA Change: M595K

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212950

Meta Mutation Damage Score

0.1380

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.0%
20x: 90.2%

Validation Efficiency

98% (84/86)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc8	A	G	7: 45,758,262 (GRCm39)	I1268T	probably benign	Het
Accsl	C	T	2: 93,687,289 (GRCm39)		probably null	Het
Actmap	A	G	7: 26,896,542 (GRCm39)	D35G	possibly damaging	Het
Ank3	A	T	10: 69,756,291 (GRCm39)	I842F	probably benign	Het
Bbs9	T	A	9: 22,415,370 (GRCm39)	L98Q	probably damaging	Het
Bin2	A	G	15: 100,543,286 (GRCm39)	V299A	probably benign	Het
Cabp4	G	A	19: 4,181,228 (GRCm39)		probably benign	Het
Ces2f	A	T	8: 105,679,155 (GRCm39)	H324L	possibly damaging	Het
Chd4	G	A	6: 125,082,239 (GRCm39)	R576Q	possibly damaging	Het
Cndp1	A	G	18: 84,650,138 (GRCm39)	V185A	possibly damaging	Het
Cntn3	A	C	6: 102,242,295 (GRCm39)	V450G	possibly damaging	Het
Col5a2	C	A	1: 45,419,286 (GRCm39)	G1265W	probably damaging	Het
Corin	G	A	5: 72,473,449 (GRCm39)	Q754*	probably null	Het
Cyp4a10	A	G	4: 115,382,702 (GRCm39)	N291S	probably benign	Het
Dap3	T	C	3: 88,832,633 (GRCm39)	Y353C	probably damaging	Het
Disp1	A	G	1: 182,869,450 (GRCm39)	V990A	probably damaging	Het
Dock9	A	T	14: 121,847,594 (GRCm39)		probably null	Het
Dop1b	T	A	16: 93,590,114 (GRCm39)	V179E	probably benign	Het
Fyb2	A	T	4: 104,802,521 (GRCm39)	Q141L	probably damaging	Het
Gemin4	A	T	11: 76,104,227 (GRCm39)	L178*	probably null	Het
Gm15446	A	T	5: 110,088,364 (GRCm39)	K25*	probably null	Het
Gm17067	A	T	7: 42,357,843 (GRCm39)	C220S	probably damaging	Het
Gm4868	A	G	5: 125,925,042 (GRCm39)		noncoding transcript	Het
Golga4	GT	GTT	9: 118,388,125 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,614,252 (GRCm39)	N596S	probably damaging	Het
Hoxb4	A	G	11: 96,211,057 (GRCm39)	D219G	probably damaging	Het
Htr1b	T	A	9: 81,513,854 (GRCm39)	Q251L	possibly damaging	Het
Ibtk	A	C	9: 85,602,916 (GRCm39)	S696R	probably benign	Het
Ide	C	A	19: 37,307,855 (GRCm39)	K52N	unknown	Het
Incenp	C	A	19: 9,870,728 (GRCm39)	L300F	unknown	Het
Ino80	T	C	2: 119,232,877 (GRCm39)	Y1147C	probably damaging	Het
Mme	T	A	3: 63,207,702 (GRCm39)	Y49*	probably null	Het
Mmp15	A	T	8: 96,094,812 (GRCm39)	T229S	possibly damaging	Het
Mtmr4	A	T	11: 87,504,904 (GRCm39)	N1133I	probably damaging	Het
Mycbp2	C	T	14: 103,411,250 (GRCm39)	G284R	probably damaging	Het
Myo3a	T	C	2: 22,448,381 (GRCm39)	I52T	probably damaging	Het
Nat8f5	G	T	6: 85,794,635 (GRCm39)	F108L	probably damaging	Het
Nbeal1	T	A	1: 60,350,158 (GRCm39)	H2402Q	probably damaging	Het
Nexn	T	A	3: 151,943,941 (GRCm39)	E331D	probably damaging	Het
Nktr	C	T	9: 121,577,672 (GRCm39)		probably benign	Het
Oaz3	T	C	3: 94,342,392 (GRCm39)	D88G	probably damaging	Het
Or1n1	T	C	2: 36,750,282 (GRCm39)	Y26C	probably damaging	Het
Or4l1	A	G	14: 50,166,993 (GRCm39)	Y3H	probably benign	Het
Pcdhb9	A	T	18: 37,534,656 (GRCm39)	T217S	possibly damaging	Het
Pcdhga2	A	T	18: 37,803,605 (GRCm39)	D483V	possibly damaging	Het
Pde5a	G	T	3: 122,596,681 (GRCm39)	G456V	probably damaging	Het
Qser1	T	C	2: 104,616,919 (GRCm39)	T1298A	probably benign	Het
Rapgef5	T	C	12: 117,685,064 (GRCm39)	V303A	probably damaging	Het
Rbbp6	T	G	7: 122,587,947 (GRCm39)	M267R	probably damaging	Het
Rfx8	C	A	1: 39,722,113 (GRCm39)	V291F	probably damaging	Het
Rnf121	T	C	7: 101,672,555 (GRCm39)	K276R	probably null	Het
Rtca	G	T	3: 116,282,931 (GRCm39)	Y352*	probably null	Het
Rusf1	C	T	7: 127,884,308 (GRCm39)	V225M	probably damaging	Het
Sacs	T	C	14: 61,443,549 (GRCm39)	V1865A	probably damaging	Het
Sclt1	C	T	3: 41,611,710 (GRCm39)	E521K	probably benign	Het
Setd1a	T	C	7: 127,396,420 (GRCm39)		probably null	Het
Slc37a4	G	T	9: 44,313,394 (GRCm39)	V337L	probably benign	Het
Slc5a9	G	T	4: 111,750,366 (GRCm39)	S79*	probably null	Het
Snrpd2	T	C	7: 18,885,247 (GRCm39)	V36A	probably benign	Het
Spata31d1b	A	T	13: 59,864,486 (GRCm39)	N545Y	probably damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
St7	G	A	6: 17,834,673 (GRCm39)	V98I	possibly damaging	Het
Strip2	A	T	6: 29,927,623 (GRCm39)	I223F	probably benign	Het
Syn2	A	C	6: 115,255,313 (GRCm39)	N542H	possibly damaging	Het
Tbc1d2b	T	C	9: 90,109,496 (GRCm39)	T327A	probably benign	Het
Timm44	A	T	8: 4,319,992 (GRCm39)	F59I	possibly damaging	Het
Tmem41b	A	T	7: 109,581,970 (GRCm39)	C44*	probably null	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Tusc3	A	T	8: 39,597,947 (GRCm39)	K188*	probably null	Het
Usp39	T	A	6: 72,305,670 (GRCm39)	Q371L	probably benign	Het
Vmn2r13	G	T	5: 109,321,580 (GRCm39)	N372K	probably damaging	Het
Zfp961	T	A	8: 72,721,903 (GRCm39)	Y139N	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
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
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'- TGGGCCTCACAGCTTCTAGATG -3'
(R):5'- TCAGGGAAGGCATCTTGCTG -3'

Sequencing Primer
(F):5'- CTCACAGCTTCTAGATGACAGAGG -3'
(R):5'- GCACCTGGAGCTCCTTTGATG -3'

Posted On

2017-07-21