Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4142001:Eps8l1'

486927

Institutional Source

Beutler Lab

Gene Symbol

Eps8l1

Ensembl Gene

ENSMUSG00000006154

Gene Name

EPS8-like 1

Synonyms

DRC3, EPS8R1, 4632407K17Rik, 2310051G19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4142001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4463673-4483486 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4474414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 295 (S295N)

Ref Sequence

ENSEMBL: ENSMUSP00000133206 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086372] [ENSMUST00000163137] [ENSMUST00000163804] [ENSMUST00000163893] [ENSMUST00000167298] [ENSMUST00000171445] [ENSMUST00000169820] [ENSMUST00000170635] [ENSMUST00000167810]

AlphaFold

Q8R5F8

Predicted Effect

probably benign
Transcript: ENSMUST00000086372
AA Change: S234N

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

SMART Domains

Protein: ENSMUSP00000083559
Gene: ENSMUSG00000006154
AA Change: S234N

Domain	Start	End	E-Value	Type
Pfam:PTB	35	165	2.1e-46	PFAM
low complexity region	282	304	N/A	INTRINSIC
SH3	480	535	2.62e-11	SMART
low complexity region	554	564	N/A	INTRINSIC
PDB:1WWU\|A	632	698	1e-19	PDB
low complexity region	701	715	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146199

Predicted Effect

probably benign
Transcript: ENSMUST00000163137

SMART Domains

Protein: ENSMUSP00000131345
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
Pfam:PTB	35	100	1.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163804

Predicted Effect

probably benign
Transcript: ENSMUST00000163893
AA Change: S234N

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

SMART Domains

Protein: ENSMUSP00000125840
Gene: ENSMUSG00000006154
AA Change: S234N

Domain	Start	End	E-Value	Type
Pfam:PTB	35	165	2.1e-46	PFAM
low complexity region	282	304	N/A	INTRINSIC
SH3	480	535	2.62e-11	SMART
low complexity region	554	564	N/A	INTRINSIC
PDB:1WWU\|A	632	698	1e-19	PDB
low complexity region	701	715	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167068

Predicted Effect

probably benign
Transcript: ENSMUST00000167298

Predicted Effect

probably benign
Transcript: ENSMUST00000171445
AA Change: S295N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000133206
Gene: ENSMUSG00000006154
AA Change: S295N

Domain	Start	End	E-Value	Type
Pfam:PTB	96	226	5.8e-46	PFAM
low complexity region	343	365	N/A	INTRINSIC
SH3	541	596	2.62e-11	SMART
low complexity region	615	625	N/A	INTRINSIC
PDB:1WWU\|A	693	759	1e-19	PDB
low complexity region	762	776	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167599

Predicted Effect

probably benign
Transcript: ENSMUST00000169820

SMART Domains

Protein: ENSMUSP00000131773
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
Pfam:PTB	35	93	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170635

SMART Domains

Protein: ENSMUSP00000127999
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
PDB:2CY5\|A	26	52	3e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000167810

SMART Domains

Protein: ENSMUSP00000126720
Gene: ENSMUSG00000006154

Domain	Start	End	E-Value	Type
Pfam:PTB	35	152	5e-44	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (105/114)

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 related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	G	17: 84,981,022 (GRCm39)	Y107S	possibly damaging	Het
Abhd8	T	C	8: 71,914,499 (GRCm39)	E43G	probably damaging	Het
Ap1b1	T	G	11: 4,990,360 (GRCm39)	L872W	probably damaging	Het
Arid1b	T	A	17: 5,389,518 (GRCm39)	M1688K	probably damaging	Het
Brca1	T	C	11: 101,413,248 (GRCm39)		probably benign	Het
C4b	C	T	17: 34,952,675 (GRCm39)	V1151I	probably benign	Het
Card6	T	A	15: 5,128,113 (GRCm39)	Q1094H	unknown	Het
Cd22	C	A	7: 30,577,224 (GRCm39)	V28F	possibly damaging	Het
Cdc42bpa	A	T	1: 179,859,125 (GRCm39)	N109I	probably damaging	Het
Ces2b	T	C	8: 105,563,442 (GRCm39)	Y390H	probably damaging	Het
Clca4a	T	C	3: 144,674,072 (GRCm39)	Y221C	probably damaging	Het
Cntnap5a	G	T	1: 115,612,686 (GRCm39)		probably benign	Het
Cyp4a10	C	A	4: 115,382,072 (GRCm39)	H251Q	probably damaging	Het
Dcc	A	T	18: 71,517,297 (GRCm39)		probably null	Het
Dnaaf5	A	G	5: 139,171,273 (GRCm39)	K812E	possibly damaging	Het
Dnajc13	T	C	9: 104,115,672 (GRCm39)	T46A	probably damaging	Het
Duxf1	A	G	10: 58,059,276 (GRCm39)	C493R	probably benign	Het
Duxf1	C	T	10: 58,060,704 (GRCm39)	E17K	possibly damaging	Het
Duxf1	G	A	10: 58,060,136 (GRCm39)		probably benign	Het
Duxf1	G	C	10: 58,059,278 (GRCm39)	P492R	probably damaging	Het
Duxf3	C	A	10: 58,066,990 (GRCm39)	C503F	probably damaging	Het
Duxf3	C	A	10: 58,066,810 (GRCm39)	R563M	probably damaging	Het
Duxf3	A	C	10: 58,067,498 (GRCm39)	S27A	probably benign	Het
Etfdh	C	T	3: 79,517,174 (GRCm39)	S345N	probably damaging	Het
Fat3	A	G	9: 15,903,414 (GRCm39)		probably null	Het
G530012D18Rik	T	G	1: 85,504,925 (GRCm39)		probably benign	Het
Gabra4	T	C	5: 71,729,106 (GRCm39)	N558S	probably damaging	Het
Gm10718	A	T	9: 3,024,417 (GRCm39)	T134S	probably benign	Het
Gm10722	T	C	9: 3,001,350 (GRCm39)	L142S	probably benign	Het
Gm10800	A	C	2: 98,496,893 (GRCm39)	F220C	probably benign	Het
Gm10800	T	C	2: 98,497,163 (GRCm39)	R152G	probably benign	Het
Gm10800	C	A	2: 98,497,250 (GRCm39)	V123F	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCA	C	2: 98,497,361 (GRCm39)		probably null	Het
Gm10801	A	G	2: 98,492,648 (GRCm39)	R23G	probably benign	Het
Gm11168	C	T	9: 3,004,605 (GRCm39)	P49S	probably benign	Het
Gm21663	C	T	5: 26,143,767 (GRCm39)	R185H	probably benign	Het
Gm21738	G	A	14: 19,417,330 (GRCm38)	S66L	probably benign	Het
Gpr107	T	A	2: 31,057,083 (GRCm39)	D58E	probably benign	Het
Gstm7	AAC	A	3: 107,838,799 (GRCm39)		probably null	Het
Hc	C	T	2: 34,921,833 (GRCm39)		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,194,000 (GRCm39)		probably benign	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hjurp	A	C	1: 88,193,768 (GRCm39)	V380G	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,441,089 (GRCm39)	M327K	probably benign	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Het
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Het
Ifi206	A	G	1: 173,308,730 (GRCm39)	V422A	probably benign	Het
Igf2bp3	A	G	6: 49,094,317 (GRCm39)	V151A	probably damaging	Het
Ivl	TTGC	T	3: 92,479,608 (GRCm39)		probably benign	Het
Kndc1	TC	T	7: 139,503,692 (GRCm39)		probably null	Het
Lig1	GC	G	7: 13,039,850 (GRCm39)		probably null	Het
Lrit1	A	G	14: 36,783,998 (GRCm39)	Y442C	probably damaging	Het
Map3k21	C	A	8: 126,664,047 (GRCm39)	P536H	probably damaging	Het
Marchf10	T	A	11: 105,281,346 (GRCm39)	Y313F	probably benign	Het
Mcm5	A	G	8: 75,853,864 (GRCm39)	H706R	probably benign	Het
Mlycd	T	G	8: 120,137,199 (GRCm39)	I473S	probably damaging	Het
Muc4	T	A	16: 32,755,684 (GRCm38)		probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc4	C	G	16: 32,755,676 (GRCm38)		probably benign	Het
Myo5c	T	C	9: 75,191,230 (GRCm39)	V1088A	probably benign	Het
Nadk2	TG	T	15: 9,100,232 (GRCm39)		probably null	Het
Ndufs1	A	G	1: 63,198,907 (GRCm39)		probably benign	Het
Or4n4	A	G	14: 50,518,784 (GRCm39)	*309Q	probably null	Het
Pak2	A	T	16: 31,841,930 (GRCm39)	Y443N	probably damaging	Het
Pik3r6	T	C	11: 68,417,931 (GRCm39)	I73T	probably damaging	Het
Pla2g4c	A	G	7: 13,077,316 (GRCm39)	E286G	probably benign	Het
Plekhn1	G	A	4: 156,309,397 (GRCm39)	R196*	probably null	Het
Pramel41	A	C	5: 94,594,643 (GRCm39)	K168Q	probably benign	Het
Prdm10	T	A	9: 31,237,063 (GRCm39)	D145E	probably benign	Het
Ptgis	T	C	2: 167,048,750 (GRCm39)	Y422C	probably damaging	Het
Ralgapb	A	G	2: 158,272,342 (GRCm39)	E132G	probably benign	Het
Rasgrf1	G	A	9: 89,797,626 (GRCm39)	R168H	possibly damaging	Het
Rbmyf1	T	A	Y: 2,787,132 (GRCm39)	N228Y	probably benign	Het
Rpl5	T	C	5: 108,055,049 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,722,682 (GRCm39)	K2603E	probably damaging	Het
Sap130	T	C	18: 31,800,064 (GRCm39)		probably null	Het
Scn5a	C	A	9: 119,315,324 (GRCm39)	D1794Y	probably damaging	Het
Sec31a	A	T	5: 100,555,134 (GRCm39)	S29T	probably damaging	Het
Selplg	T	G	5: 113,957,689 (GRCm39)	K206Q	probably benign	Het
Sfmbt1	A	T	14: 30,538,714 (GRCm39)		probably null	Het
Sirpb1a	A	T	3: 15,476,258 (GRCm39)	F180I	probably benign	Het
Slc44a4	A	G	17: 35,140,251 (GRCm39)	I67V	probably damaging	Het
Sp110	T	C	1: 85,513,975 (GRCm39)	R261G	probably benign	Het
Sp110	C	T	1: 85,513,971 (GRCm39)	R262Q	probably benign	Het
Sp140	T	A	1: 85,528,893 (GRCm39)	Y5N	probably benign	Het
Sp140	A	G	1: 85,570,942 (GRCm39)	S461G	probably benign	Het
Sp140	G	C	1: 85,538,603 (GRCm39)	K113N	probably benign	Het
Sp140l1	G	A	1: 85,077,341 (GRCm39)	A75V	probably benign	Het
Sp140l2	A	C	1: 85,223,395 (GRCm39)		probably benign	Het
Speer4a2	A	T	5: 26,291,485 (GRCm39)	F107Y	probably benign	Het
Speer4a2	C	G	5: 26,294,093 (GRCm39)	W28C	probably damaging	Het
Stab2	A	T	10: 86,703,039 (GRCm39)	S1848R	possibly damaging	Het
Stat6	T	C	10: 127,494,099 (GRCm39)	V642A	possibly damaging	Het
Tfam	T	C	10: 71,070,813 (GRCm39)	K63R	possibly damaging	Het
Trim2	T	C	3: 84,098,164 (GRCm39)	N379S	probably benign	Het
Trp63	C	T	16: 25,684,013 (GRCm39)	T300I	probably damaging	Het
Tymp	C	A	15: 89,260,548 (GRCm39)	W90L	probably damaging	Het
Ubr5	A	G	15: 38,042,153 (GRCm39)	S148P		Het
Ugt1a10	TTCA	T	1: 88,143,880 (GRCm39)		probably benign	Het
Usp47	T	C	7: 111,703,548 (GRCm39)		probably benign	Het
Uvssa	C	T	5: 33,549,428 (GRCm39)	A363V	probably benign	Het
Vldlr	T	A	19: 27,212,269 (GRCm39)	D94E	probably benign	Het
Vmn1r3	C	T	4: 3,184,691 (GRCm39)	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774 (GRCm39)	V178I	probably benign	Het
Vmn1r67	T	A	7: 10,180,877 (GRCm39)	M47K	probably benign	Het
Vmn1r87	A	T	7: 12,866,112 (GRCm39)	H58Q	probably benign	Het
Vmn1r89	A	G	7: 12,953,515 (GRCm39)	T84A	probably benign	Het
Vmn2r109	T	C	17: 20,774,839 (GRCm39)		probably null	Het
Xirp2	T	C	2: 67,349,706 (GRCm39)		probably benign	Het
Zbtb2	A	G	10: 4,319,493 (GRCm39)	S178P	probably benign	Het
Zfp534	C	A	4: 147,762,770 (GRCm39)	D21Y	probably benign	Het
Zfp534	C	T	4: 147,760,031 (GRCm39)	E213K	probably benign	Het
Zfp804b	C	T	5: 6,819,422 (GRCm39)	V1214I	probably damaging	Het
Zfp82	G	T	7: 29,756,701 (GRCm39)	T63K	probably damaging	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	Het
Zfp992	C	T	4: 146,550,569 (GRCm39)	P97S	probably benign	Het

Other mutations in Eps8l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01292:Eps8l1	APN	7	4,481,919 (GRCm39)	utr 3 prime	probably benign
IGL01455:Eps8l1	APN	7	4,481,922 (GRCm39)	utr 3 prime	probably benign
IGL01872:Eps8l1	APN	7	4,475,295 (GRCm39)	splice site	probably benign
IGL02343:Eps8l1	APN	7	4,475,123 (GRCm39)	missense	probably benign	0.04
IGL02585:Eps8l1	APN	7	4,472,212 (GRCm39)	missense	probably damaging	1.00
IGL02596:Eps8l1	APN	7	4,473,871 (GRCm39)	missense	probably damaging	0.99
IGL02673:Eps8l1	APN	7	4,481,731 (GRCm39)	missense	probably damaging	1.00
IGL03117:Eps8l1	APN	7	4,473,886 (GRCm39)	missense	probably damaging	1.00
Anamnestic	UTSW	7	4,473,873 (GRCm39)	missense	probably damaging	0.98
souvenir	UTSW	7	4,480,895 (GRCm39)	missense	possibly damaging	0.56
PIT4151001:Eps8l1	UTSW	7	4,474,414 (GRCm39)	missense	probably benign	0.00
PIT4480001:Eps8l1	UTSW	7	4,474,414 (GRCm39)	missense	probably benign	0.00
R0015:Eps8l1	UTSW	7	4,480,556 (GRCm39)	splice site	probably benign
R0599:Eps8l1	UTSW	7	4,480,956 (GRCm39)	missense	possibly damaging	0.90
R0686:Eps8l1	UTSW	7	4,480,449 (GRCm39)	missense	probably benign	0.36
R0827:Eps8l1	UTSW	7	4,480,388 (GRCm39)	missense	possibly damaging	0.86
R1015:Eps8l1	UTSW	7	4,472,932 (GRCm39)	missense	probably damaging	1.00
R1447:Eps8l1	UTSW	7	4,477,055 (GRCm39)	missense	probably damaging	1.00
R1490:Eps8l1	UTSW	7	4,473,888 (GRCm39)	missense	probably damaging	1.00
R1527:Eps8l1	UTSW	7	4,474,393 (GRCm39)	missense	probably benign
R1553:Eps8l1	UTSW	7	4,480,448 (GRCm39)	missense	probably damaging	0.98
R1763:Eps8l1	UTSW	7	4,474,822 (GRCm39)	missense	probably benign	0.43
R1863:Eps8l1	UTSW	7	4,468,359 (GRCm39)	utr 5 prime	probably benign
R2357:Eps8l1	UTSW	7	4,473,354 (GRCm39)	missense	probably benign	0.06
R3153:Eps8l1	UTSW	7	4,474,798 (GRCm39)	missense	probably damaging	1.00
R4082:Eps8l1	UTSW	7	4,473,797 (GRCm39)	splice site	probably null
R4539:Eps8l1	UTSW	7	4,481,623 (GRCm39)	missense	probably damaging	1.00
R4684:Eps8l1	UTSW	7	4,476,944 (GRCm39)	missense	probably damaging	0.99
R4930:Eps8l1	UTSW	7	4,463,915 (GRCm39)	missense	possibly damaging	0.66
R4931:Eps8l1	UTSW	7	4,474,240 (GRCm39)	missense	possibly damaging	0.95
R5245:Eps8l1	UTSW	7	4,473,873 (GRCm39)	missense	probably damaging	0.98
R5247:Eps8l1	UTSW	7	4,473,401 (GRCm39)	missense	probably damaging	1.00
R5305:Eps8l1	UTSW	7	4,480,895 (GRCm39)	missense	possibly damaging	0.56
R5420:Eps8l1	UTSW	7	4,473,160 (GRCm39)	splice site	probably null
R5620:Eps8l1	UTSW	7	4,463,945 (GRCm39)	missense	possibly damaging	0.83
R5705:Eps8l1	UTSW	7	4,473,034 (GRCm39)	missense	probably benign	0.00
R6063:Eps8l1	UTSW	7	4,474,296 (GRCm39)	missense	possibly damaging	0.56
R6909:Eps8l1	UTSW	7	4,472,899 (GRCm39)	nonsense	probably null
R7096:Eps8l1	UTSW	7	4,477,190 (GRCm39)	missense	probably benign	0.01
R7136:Eps8l1	UTSW	7	4,480,403 (GRCm39)	missense	probably damaging	1.00
R7144:Eps8l1	UTSW	7	4,475,184 (GRCm39)	missense	probably damaging	1.00
R7381:Eps8l1	UTSW	7	4,473,437 (GRCm39)	splice site	probably null
R7539:Eps8l1	UTSW	7	4,473,036 (GRCm39)	missense	probably damaging	1.00
R7784:Eps8l1	UTSW	7	4,475,121 (GRCm39)	missense	probably damaging	1.00
R7833:Eps8l1	UTSW	7	4,471,866 (GRCm39)	missense	possibly damaging	0.76
R8190:Eps8l1	UTSW	7	4,474,297 (GRCm39)	missense	probably benign	0.05
R8311:Eps8l1	UTSW	7	4,474,817 (GRCm39)	missense	probably damaging	1.00
R8549:Eps8l1	UTSW	7	4,473,853 (GRCm39)	missense	probably damaging	1.00
R8960:Eps8l1	UTSW	7	4,481,214 (GRCm39)	missense	probably damaging	1.00
R8974:Eps8l1	UTSW	7	4,474,817 (GRCm39)	missense	probably damaging	1.00
R9003:Eps8l1	UTSW	7	4,464,016 (GRCm39)	missense	possibly damaging	0.92
R9023:Eps8l1	UTSW	7	4,477,042 (GRCm39)	nonsense	probably null
R9131:Eps8l1	UTSW	7	4,480,573 (GRCm39)	missense
R9517:Eps8l1	UTSW	7	4,480,636 (GRCm39)	missense	probably damaging	1.00
R9653:Eps8l1	UTSW	7	4,481,886 (GRCm39)	missense	unknown
X0060:Eps8l1	UTSW	7	4,473,850 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTCTTAACTCAGGGCGACG -3'
(R):5'- ACCCAGCATCTTGTCAGCTAG -3'

Sequencing Primer
(F):5'- CAGGAGGAGCTGCGACG -3'
(R):5'- TTGTCAGCTAGTCACACCTAGACG -3'

Posted On

2017-09-21