Mutagenetix > Incidental Mutation

Incidental Mutation 'R1106:Eps8'

98473

Institutional Source

Beutler Lab

Gene Symbol

Eps8

Ensembl Gene

ENSMUSG00000015766

Gene Name

epidermal growth factor receptor pathway substrate 8

Synonyms

MMRRC Submission

039179-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R1106 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137454242-137626262 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137491322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 352 (P352L)

Ref Sequence

ENSEMBL: ENSMUSP00000120044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058210] [ENSMUST00000100841] [ENSMUST00000111878] [ENSMUST00000132920] [ENSMUST00000147526]

AlphaFold

Q08509

Predicted Effect

probably damaging
Transcript: ENSMUST00000058210
AA Change: P352L

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

SMART Domains

Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: P352L

Domain	Start	End	E-Value	Type
PTB	60	197	8.38e-34	SMART
low complexity region	203	221	N/A	INTRINSIC
low complexity region	229	241	N/A	INTRINSIC
low complexity region	298	309	N/A	INTRINSIC
SH3	533	588	5.48e-14	SMART
low complexity region	620	651	N/A	INTRINSIC
Blast:SH3	652	686	6e-6	BLAST
PDB:2E8M\|A	698	783	5e-50	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000100841
AA Change: P352L

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

SMART Domains

Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: P352L

Domain	Start	End	E-Value	Type
PTB	60	197	8.38e-34	SMART
low complexity region	203	221	N/A	INTRINSIC
low complexity region	229	241	N/A	INTRINSIC
low complexity region	298	309	N/A	INTRINSIC
SH3	533	588	5.48e-14	SMART
low complexity region	620	651	N/A	INTRINSIC
Blast:SH3	652	686	6e-6	BLAST
PDB:2E8M\|A	698	783	5e-50	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000111878
AA Change: P352L

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

SMART Domains

Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: P352L

Domain	Start	End	E-Value	Type
PTB	60	197	8.38e-34	SMART
low complexity region	203	221	N/A	INTRINSIC
low complexity region	229	241	N/A	INTRINSIC
low complexity region	298	309	N/A	INTRINSIC
SH3	533	588	5.48e-14	SMART
low complexity region	620	651	N/A	INTRINSIC
Blast:SH3	652	686	6e-6	BLAST
PDB:2E8M\|A	698	783	5e-50	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127179

Predicted Effect

probably benign
Transcript: ENSMUST00000132920

SMART Domains

Protein: ENSMUSP00000122517
Gene: ENSMUSG00000015766

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC
PTB	77	214	8.38e-34	SMART
low complexity region	220	238	N/A	INTRINSIC
low complexity region	246	258	N/A	INTRINSIC
low complexity region	315	326	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000147526
AA Change: P352L

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

SMART Domains

Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: P352L

Domain	Start	End	E-Value	Type
PTB	60	197	8.38e-34	SMART
low complexity region	203	221	N/A	INTRINSIC
low complexity region	229	241	N/A	INTRINSIC
low complexity region	298	309	N/A	INTRINSIC
SH3	533	587	4.56e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152046

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in resistance to some of the intoxicating effects of ethanol and increased ethanol consumption. NMDA receptor currents and their sensitivity to inhibition by ethanol are abnormal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic5	C	A	3: 81,911,897 (GRCm39)	F122L	probably damaging	Het
Caml	A	G	13: 55,772,538 (GRCm39)	T61A	probably benign	Het
Cfap20	A	T	8: 96,147,873 (GRCm39)	I156N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dio2	A	G	12: 90,704,985 (GRCm39)	L25P	probably damaging	Het
Gnai2	A	G	9: 107,497,385 (GRCm39)	I3T	probably damaging	Het
Hexim2	T	C	11: 103,029,319 (GRCm39)	S124P	probably damaging	Het
Klk1b16	C	T	7: 43,788,937 (GRCm39)	R57C	probably damaging	Het
Mier3	A	T	13: 111,844,763 (GRCm39)	D205V	probably damaging	Het
Or2y14	A	G	11: 49,404,519 (GRCm39)	D18G	probably damaging	Het
Or4c102	T	C	2: 88,422,355 (GRCm39)	V69A	probably benign	Het
Ptprz1	A	G	6: 22,965,748 (GRCm39)	D192G	probably damaging	Het
Samd3	G	A	10: 26,147,689 (GRCm39)	V455M	possibly damaging	Het
Slc9c1	C	A	16: 45,376,170 (GRCm39)	Q419K	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tas2r139	A	G	6: 42,118,479 (GRCm39)	T204A	probably benign	Het
Ush2a	G	A	1: 188,643,180 (GRCm39)	E4181K	possibly damaging	Het
Vps37a	T	A	8: 40,965,247 (GRCm39)	I33N	probably damaging	Het
Zfp335	TTGCTGCTGCTGCTGCTGCT	TTGCTGCTGCTGCTGCT	2: 164,749,471 (GRCm39)		probably benign	Het
Zik1	G	A	7: 10,224,312 (GRCm39)	R262C	probably damaging	Het

Other mutations in Eps8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Eps8	APN	6	137,482,477 (GRCm39)	missense	probably benign	0.00
IGL00499:Eps8	APN	6	137,499,886 (GRCm39)	nonsense	probably null
IGL01587:Eps8	APN	6	137,491,711 (GRCm39)	missense	probably damaging	1.00
IGL01789:Eps8	APN	6	137,516,364 (GRCm39)	missense	probably benign	0.01
IGL01836:Eps8	APN	6	137,460,539 (GRCm39)	critical splice donor site	probably null
IGL01951:Eps8	APN	6	137,514,669 (GRCm39)	missense	possibly damaging	0.66
IGL02478:Eps8	APN	6	137,499,840 (GRCm39)	missense	probably benign	0.05
IGL02546:Eps8	APN	6	137,456,064 (GRCm39)	missense	probably benign	0.30
IGL02861:Eps8	APN	6	137,476,597 (GRCm39)	missense	probably damaging	1.00
IGL03115:Eps8	APN	6	137,504,379 (GRCm39)	missense	probably damaging	1.00
IGL03355:Eps8	APN	6	137,489,143 (GRCm39)	splice site	probably benign
FR4589:Eps8	UTSW	6	137,494,067 (GRCm39)	frame shift	probably null
R0113:Eps8	UTSW	6	137,514,682 (GRCm39)	missense	possibly damaging	0.87
R0245:Eps8	UTSW	6	137,456,126 (GRCm39)	missense	probably benign	0.01
R0462:Eps8	UTSW	6	137,491,309 (GRCm39)	missense	probably benign	0.00
R0905:Eps8	UTSW	6	137,491,305 (GRCm39)	missense	probably benign	0.23
R1178:Eps8	UTSW	6	137,499,852 (GRCm39)	missense	possibly damaging	0.46
R1181:Eps8	UTSW	6	137,499,852 (GRCm39)	missense	possibly damaging	0.46
R1448:Eps8	UTSW	6	137,499,852 (GRCm39)	missense	possibly damaging	0.46
R1612:Eps8	UTSW	6	137,477,616 (GRCm39)	missense	probably benign	0.00
R1835:Eps8	UTSW	6	137,499,277 (GRCm39)	nonsense	probably null
R2068:Eps8	UTSW	6	137,499,172 (GRCm39)	missense	probably benign	0.13
R2113:Eps8	UTSW	6	137,514,633 (GRCm39)	splice site	probably null
R2943:Eps8	UTSW	6	137,499,870 (GRCm39)	missense	probably damaging	1.00
R3032:Eps8	UTSW	6	137,489,175 (GRCm39)	missense	probably damaging	0.96
R3879:Eps8	UTSW	6	137,504,360 (GRCm39)	splice site	probably benign
R3973:Eps8	UTSW	6	137,486,153 (GRCm39)	missense	probably benign	0.00
R4199:Eps8	UTSW	6	137,491,325 (GRCm39)	missense	probably damaging	0.96
R4384:Eps8	UTSW	6	137,476,590 (GRCm39)	missense	probably benign	0.30
R4728:Eps8	UTSW	6	137,486,160 (GRCm39)	nonsense	probably null
R4840:Eps8	UTSW	6	137,504,128 (GRCm39)	missense	probably damaging	1.00
R4860:Eps8	UTSW	6	137,491,293 (GRCm39)	missense	probably damaging	0.97
R4860:Eps8	UTSW	6	137,491,293 (GRCm39)	missense	probably damaging	0.97
R4864:Eps8	UTSW	6	137,455,967 (GRCm39)	utr 3 prime	probably benign
R5197:Eps8	UTSW	6	137,467,288 (GRCm39)	missense	probably damaging	0.97
R5197:Eps8	UTSW	6	137,467,289 (GRCm39)	missense	possibly damaging	0.91
R5214:Eps8	UTSW	6	137,504,490 (GRCm39)	missense	probably damaging	0.99
R5457:Eps8	UTSW	6	137,489,175 (GRCm39)	missense	probably damaging	0.96
R5464:Eps8	UTSW	6	137,504,473 (GRCm39)	missense	probably damaging	1.00
R5557:Eps8	UTSW	6	137,456,094 (GRCm39)	missense	possibly damaging	0.90
R5981:Eps8	UTSW	6	137,459,208 (GRCm39)	missense	probably damaging	0.98
R6150:Eps8	UTSW	6	137,494,172 (GRCm39)	missense	probably damaging	1.00
R6473:Eps8	UTSW	6	137,456,096 (GRCm39)	missense	probably damaging	1.00
R6529:Eps8	UTSW	6	137,491,335 (GRCm39)	missense	possibly damaging	0.92
R6574:Eps8	UTSW	6	137,460,596 (GRCm39)	nonsense	probably null
R6890:Eps8	UTSW	6	137,489,255 (GRCm39)	missense	probably damaging	0.99
R7180:Eps8	UTSW	6	137,456,072 (GRCm39)	missense	possibly damaging	0.78
R7229:Eps8	UTSW	6	137,516,354 (GRCm39)	missense	probably benign
R7314:Eps8	UTSW	6	137,504,090 (GRCm39)	missense	possibly damaging	0.51
R7336:Eps8	UTSW	6	137,486,211 (GRCm39)	missense	possibly damaging	0.75
R7784:Eps8	UTSW	6	137,476,585 (GRCm39)	missense	probably benign	0.01
R7942:Eps8	UTSW	6	137,507,575 (GRCm39)	missense	possibly damaging	0.53
R7988:Eps8	UTSW	6	137,505,569 (GRCm39)	missense	possibly damaging	0.95
R7989:Eps8	UTSW	6	137,505,569 (GRCm39)	missense	possibly damaging	0.95
R7991:Eps8	UTSW	6	137,505,569 (GRCm39)	missense	possibly damaging	0.95
R8235:Eps8	UTSW	6	137,460,576 (GRCm39)	missense	possibly damaging	0.62
R8262:Eps8	UTSW	6	137,459,252 (GRCm39)	missense	probably benign	0.10
R8834:Eps8	UTSW	6	137,504,306 (GRCm39)	intron	probably benign
R8902:Eps8	UTSW	6	137,489,175 (GRCm39)	missense	probably damaging	1.00
R9081:Eps8	UTSW	6	137,504,415 (GRCm39)	missense	probably benign	0.02
R9225:Eps8	UTSW	6	137,507,561 (GRCm39)	missense	probably benign	0.18
RF025:Eps8	UTSW	6	137,494,064 (GRCm39)	critical splice donor site	probably benign
RF028:Eps8	UTSW	6	137,494,061 (GRCm39)	critical splice donor site	probably benign
RF035:Eps8	UTSW	6	137,494,068 (GRCm39)	frame shift	probably null
RF039:Eps8	UTSW	6	137,494,068 (GRCm39)	frame shift	probably null
RF046:Eps8	UTSW	6	137,494,061 (GRCm39)	critical splice donor site	probably benign
RF057:Eps8	UTSW	6	137,494,062 (GRCm39)	critical splice donor site	probably benign
Z1177:Eps8	UTSW	6	137,476,579 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCCAACACTGCTAGTTCTGGATGAG -3'
(R):5'- GTTTTAACACTGAGGGCAAAACCGC -3'

Sequencing Primer
(F):5'- GTGCGTCAAACTTCACATTCAG -3'
(R):5'- GGCCTTTCATGATAACCTCAGATTG -3'

Posted On

2014-01-05