Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Eps8'

651588

Institutional Source

Beutler Lab

Gene Symbol

Eps8

Ensembl Gene

ENSMUSG00000015766

Gene Name

epidermal growth factor receptor pathway substrate 8

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.428) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137477245-137654876 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137528571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 53 (R53Q)

Ref Sequence

ENSEMBL: ENSMUSP00000052776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058210] [ENSMUST00000100841] [ENSMUST00000111878] [ENSMUST00000132920] [ENSMUST00000146442] [ENSMUST00000147526]

AlphaFold

Q08509

PDB Structure

THE SH3 DOMAIN OF EPS8 EXISTS AS A NOVEL INTERTWINED DIMER [X-RAY DIFFRACTION]
EPS8 SH3 DOMAIN INTERTWINED DIMER [X-RAY DIFFRACTION]
EPS8 SH3 CLOSED MONOMER [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058210
AA Change: R53Q

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052776
Gene: ENSMUSG00000015766
AA Change: R53Q

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

possibly damaging
Transcript: ENSMUST00000100841
AA Change: R53Q

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000098402
Gene: ENSMUSG00000015766
AA Change: R53Q

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

possibly damaging
Transcript: ENSMUST00000111878
AA Change: R53Q

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107509
Gene: ENSMUSG00000015766
AA Change: R53Q

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: ENSMUST00000132920
AA Change: R70Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122517
Gene: ENSMUSG00000015766
AA Change: R70Q

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

possibly damaging
Transcript: ENSMUST00000146442
AA Change: R53Q

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119997
Gene: ENSMUSG00000015766
AA Change: R53Q

Domain	Start	End	E-Value	Type
PTB	60	188	3.18e-25	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147526
AA Change: R53Q

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120044
Gene: ENSMUSG00000015766
AA Change: R53Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Colq	T	A	14: 31,553,837	D41V	probably damaging	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly damaging	Het

Other mutations in Eps8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Eps8	APN	6	137505479	missense	probably benign	0.00
IGL00499:Eps8	APN	6	137522888	nonsense	probably null
IGL01587:Eps8	APN	6	137514713	missense	probably damaging	1.00
IGL01789:Eps8	APN	6	137539366	missense	probably benign	0.01
IGL01836:Eps8	APN	6	137483541	critical splice donor site	probably null
IGL01951:Eps8	APN	6	137537671	missense	possibly damaging	0.66
IGL02478:Eps8	APN	6	137522842	missense	probably benign	0.05
IGL02546:Eps8	APN	6	137479066	missense	probably benign	0.30
IGL02861:Eps8	APN	6	137499599	missense	probably damaging	1.00
IGL03115:Eps8	APN	6	137527381	missense	probably damaging	1.00
IGL03355:Eps8	APN	6	137512145	splice site	probably benign
FR4589:Eps8	UTSW	6	137517069	frame shift	probably null
R0113:Eps8	UTSW	6	137537684	missense	possibly damaging	0.87
R0245:Eps8	UTSW	6	137479128	missense	probably benign	0.01
R0462:Eps8	UTSW	6	137514311	missense	probably benign	0.00
R0905:Eps8	UTSW	6	137514307	missense	probably benign	0.23
R1106:Eps8	UTSW	6	137514324	missense	probably damaging	1.00
R1178:Eps8	UTSW	6	137522854	missense	possibly damaging	0.46
R1181:Eps8	UTSW	6	137522854	missense	possibly damaging	0.46
R1448:Eps8	UTSW	6	137522854	missense	possibly damaging	0.46
R1612:Eps8	UTSW	6	137500618	missense	probably benign	0.00
R1835:Eps8	UTSW	6	137522279	nonsense	probably null
R2068:Eps8	UTSW	6	137522174	missense	probably benign	0.13
R2113:Eps8	UTSW	6	137537635	splice site	probably null
R2943:Eps8	UTSW	6	137522872	missense	probably damaging	1.00
R3032:Eps8	UTSW	6	137512177	missense	probably damaging	0.96
R3879:Eps8	UTSW	6	137527362	splice site	probably benign
R3973:Eps8	UTSW	6	137509155	missense	probably benign	0.00
R4199:Eps8	UTSW	6	137514327	missense	probably damaging	0.96
R4384:Eps8	UTSW	6	137499592	missense	probably benign	0.30
R4728:Eps8	UTSW	6	137509162	nonsense	probably null
R4840:Eps8	UTSW	6	137527130	missense	probably damaging	1.00
R4860:Eps8	UTSW	6	137514295	missense	probably damaging	0.97
R4860:Eps8	UTSW	6	137514295	missense	probably damaging	0.97
R4864:Eps8	UTSW	6	137478969	utr 3 prime	probably benign
R5197:Eps8	UTSW	6	137490290	missense	probably damaging	0.97
R5197:Eps8	UTSW	6	137490291	missense	possibly damaging	0.91
R5214:Eps8	UTSW	6	137527492	missense	probably damaging	0.99
R5457:Eps8	UTSW	6	137512177	missense	probably damaging	0.96
R5464:Eps8	UTSW	6	137527475	missense	probably damaging	1.00
R5557:Eps8	UTSW	6	137479096	missense	possibly damaging	0.90
R5981:Eps8	UTSW	6	137482210	missense	probably damaging	0.98
R6150:Eps8	UTSW	6	137517174	missense	probably damaging	1.00
R6473:Eps8	UTSW	6	137479098	missense	probably damaging	1.00
R6529:Eps8	UTSW	6	137514337	missense	possibly damaging	0.92
R6574:Eps8	UTSW	6	137483598	nonsense	probably null
R6890:Eps8	UTSW	6	137512257	missense	probably damaging	0.99
R7180:Eps8	UTSW	6	137479074	missense	possibly damaging	0.78
R7229:Eps8	UTSW	6	137539356	missense	probably benign
R7314:Eps8	UTSW	6	137527092	missense	possibly damaging	0.51
R7336:Eps8	UTSW	6	137509213	missense	possibly damaging	0.75
R7784:Eps8	UTSW	6	137499587	missense	probably benign	0.01
R7942:Eps8	UTSW	6	137530577	missense	possibly damaging	0.53
R7989:Eps8	UTSW	6	137528571	missense	possibly damaging	0.95
R7991:Eps8	UTSW	6	137528571	missense	possibly damaging	0.95
R8235:Eps8	UTSW	6	137483578	missense	possibly damaging	0.62
R8262:Eps8	UTSW	6	137482254	missense	probably benign	0.10
R8834:Eps8	UTSW	6	137527308	intron	probably benign
R8902:Eps8	UTSW	6	137512177	missense	probably damaging	1.00
R9081:Eps8	UTSW	6	137527417	missense	probably benign	0.02
R9225:Eps8	UTSW	6	137530563	missense	probably benign	0.18
RF025:Eps8	UTSW	6	137517066	critical splice donor site	probably benign
RF028:Eps8	UTSW	6	137517063	critical splice donor site	probably benign
RF035:Eps8	UTSW	6	137517070	frame shift	probably null
RF039:Eps8	UTSW	6	137517070	frame shift	probably null
RF046:Eps8	UTSW	6	137517063	critical splice donor site	probably benign
RF057:Eps8	UTSW	6	137517064	critical splice donor site	probably benign
Z1177:Eps8	UTSW	6	137499581	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTAAAGGAAGGCCACACAACTG -3'
(R):5'- AGGTTCCTGCACACCGTTAG -3'

Sequencing Primer
(F):5'- GGAAGGCCACACAACTGAAAAC -3'
(R):5'- CCTGTGAGTCATGAGTACTTTCAGAC -3'

Posted On

2020-09-15