Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01556:Egfr'

90723

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Egfr

Ensembl Gene

ENSMUSG00000020122

Gene Name

epidermal growth factor receptor

Synonyms

avian erythroblastic leukemia viral (v-erb-b) oncogene homolog, Wa5, 9030024J15Rik, Erbb, Errb1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.919) question?

Stock #

IGL01556

Quality Score

Status

Chromosome

Chromosomal Location

16752203-16918158 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16905382 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 889 (L889S)

Ref Sequence

ENSEMBL: ENSMUSP00000020329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020329]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020329
AA Change: L889S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020329
Gene: ENSMUSG00000020122
AA Change: L889S

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
Pfam:Recep_L_domain	57	168	1.4e-32	PFAM
low complexity region	182	195	N/A	INTRINSIC
FU	228	270	6.07e-4	SMART
Pfam:Recep_L_domain	361	481	1.8e-29	PFAM
FU	496	547	8.25e-6	SMART
FU	552	601	4.38e-10	SMART
FU	614	654	4.05e1	SMART
low complexity region	677	694	N/A	INTRINSIC
TyrKc	714	970	2.88e-129	SMART
low complexity region	1004	1017	N/A	INTRINSIC
low complexity region	1027	1048	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138518

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mutations widely affect epithelial development. Null homozygote survival is strain dependent, with defects observed in skin, eye, brain, viscera, palate, tongue and other tisses. Other mutations produce an open eyed, curly whisker phenotype, while a dominant hypermorph yields a thickened epidermis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 113,845,109	I81V	probably benign	Het
Armc3	T	A	2: 19,269,146	D330E	probably damaging	Het
Atp6v0b	A	G	4: 117,885,865	F49S	probably damaging	Het
Atp8b3	A	C	10: 80,530,968	Y265*	probably null	Het
Cdh11	A	G	8: 102,679,644	Y66H	probably damaging	Het
Cntn5	T	A	9: 9,673,908	M730L	probably benign	Het
Cntrl	A	G	2: 35,173,059	T1556A	probably benign	Het
Dixdc1	A	G	9: 50,706,134	S128P	probably damaging	Het
Doxl2	A	C	6: 48,975,684	D181A	possibly damaging	Het
F830045P16Rik	A	G	2: 129,463,720	Y245H	probably benign	Het
Fam124a	G	A	14: 62,587,732	C225Y	probably damaging	Het
Frem2	T	C	3: 53,535,281	T2612A	probably benign	Het
Gkap1	A	T	13: 58,263,292	I89N	probably benign	Het
Gm1840	A	G	8: 5,639,833		noncoding transcript	Het
Gm8247	A	T	14: 44,586,354	K75*	probably null	Het
Hdac11	T	A	6: 91,173,180	H320Q	probably benign	Het
Iyd	A	G	10: 3,547,091	I149V	probably benign	Het
Krtap4-6	T	A	11: 99,665,850	Q17L	unknown	Het
Lrrc24	T	A	15: 76,722,575	D207V	probably damaging	Het
Mfsd12	G	A	10: 81,363,024	C425Y	probably damaging	Het
Muc5b	A	G	7: 141,863,240	T3308A	probably benign	Het
Myo18b	A	G	5: 112,757,449		probably benign	Het
Ndufa6	C	T	15: 82,354,081	V50M	possibly damaging	Het
Nin	A	G	12: 70,043,188	V1151A	probably benign	Het
Nrf1	A	G	6: 30,126,367		probably benign	Het
Pcdhb20	T	C	18: 37,504,799	I126T	possibly damaging	Het
Pdgfra	G	T	5: 75,177,691	L535F	probably damaging	Het
Pkn2	A	T	3: 142,829,317	I212K	possibly damaging	Het
Slc5a9	T	A	4: 111,898,636	T22S	probably benign	Het
Slitrk1	A	G	14: 108,913,018	L87S	probably damaging	Het
Spert	A	G	14: 75,584,111	F16S	probably damaging	Het
Syne2	C	A	12: 76,087,815	R29S	probably damaging	Het
Zc3h12b	C	A	X: 95,927,115	F551L	probably damaging	Het
Zfp664	C	A	5: 124,886,188	C215*	probably null	Het

Other mutations in Egfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Egfr	APN	11	16863020	missense	probably damaging	1.00
IGL01529:Egfr	APN	11	16863014	missense	probably benign
IGL02627:Egfr	APN	11	16869346	missense	probably damaging	1.00
IGL02862:Egfr	APN	11	16883562	missense	probably benign	0.25
IGL02945:Egfr	APN	11	16752514	missense	probably damaging	1.00
IGL02994:Egfr	APN	11	16911811	missense	probably damaging	1.00
IGL03395:Egfr	APN	11	16910261	splice site	probably benign
set	UTSW	11	16871881	splice site	probably benign
Velvet	UTSW	11	16904399	missense	probably damaging	1.00
PIT1430001:Egfr	UTSW	11	16910214	missense	probably benign	0.00
R0196:Egfr	UTSW	11	16911746	missense	probably benign	0.02
R0513:Egfr	UTSW	11	16872855	missense	probably damaging	1.00
R0567:Egfr	UTSW	11	16872873	missense	probably benign	0.01
R0629:Egfr	UTSW	11	16869333	missense	probably damaging	1.00
R0961:Egfr	UTSW	11	16862964	missense	probably damaging	1.00
R1163:Egfr	UTSW	11	16883546	missense	probably benign	0.02
R1454:Egfr	UTSW	11	16889920	missense	probably benign
R1456:Egfr	UTSW	11	16863065	missense	probably benign	0.00
R1503:Egfr	UTSW	11	16869301	missense	possibly damaging	0.86
R1577:Egfr	UTSW	11	16869241	missense	probably benign	0.04
R1595:Egfr	UTSW	11	16906847	missense	probably damaging	0.99
R1699:Egfr	UTSW	11	16859019	missense	probably benign	0.14
R2172:Egfr	UTSW	11	16911562	missense	probably benign	0.00
R3690:Egfr	UTSW	11	16871881	splice site	probably benign
R3922:Egfr	UTSW	11	16881495	missense	probably damaging	1.00
R4444:Egfr	UTSW	11	16871027	missense	probably benign	0.00
R4685:Egfr	UTSW	11	16858980	missense	probably damaging	1.00
R4737:Egfr	UTSW	11	16869231	missense	probably damaging	0.99
R4814:Egfr	UTSW	11	16869354	missense	probably damaging	1.00
R4841:Egfr	UTSW	11	16911607	missense	probably benign	0.05
R4842:Egfr	UTSW	11	16911607	missense	probably benign	0.05
R4903:Egfr	UTSW	11	16908949	missense	probably damaging	1.00
R4964:Egfr	UTSW	11	16908949	missense	probably damaging	1.00
R4985:Egfr	UTSW	11	16859029	nonsense	probably null
R4998:Egfr	UTSW	11	16881493	missense	possibly damaging	0.58
R5001:Egfr	UTSW	11	16904434	missense	probably damaging	0.98
R5304:Egfr	UTSW	11	16884260	missense	probably benign
R5309:Egfr	UTSW	11	16911703	missense	probably benign	0.00
R5653:Egfr	UTSW	11	16911617	missense	probably benign	0.04
R5905:Egfr	UTSW	11	16911494	missense	probably damaging	1.00
R6051:Egfr	UTSW	11	16883607	missense	possibly damaging	0.87
R6052:Egfr	UTSW	11	16911554	missense	probably benign	0.16
R6114:Egfr	UTSW	11	16904374	missense	possibly damaging	0.46
R6261:Egfr	UTSW	11	16889964	missense	probably benign	0.11
R6434:Egfr	UTSW	11	16869294	missense	probably benign	0.25
R6475:Egfr	UTSW	11	16891259	missense	probably benign
R6799:Egfr	UTSW	11	16896952	missense	probably damaging	1.00
R7143:Egfr	UTSW	11	16871627	missense	probably benign	0.20
R7195:Egfr	UTSW	11	16868162	missense	probably damaging	1.00
R7459:Egfr	UTSW	11	16896967	missense	probably damaging	1.00
R7612:Egfr	UTSW	11	16859025	missense	possibly damaging	0.74
R7757:Egfr	UTSW	11	16889966	missense	possibly damaging	0.64
R7763:Egfr	UTSW	11	16891266	missense	probably damaging	1.00
Z1177:Egfr	UTSW	11	16862954	missense	probably benign	0.05
Z1177:Egfr	UTSW	11	16869319	missense	probably damaging	1.00

Posted On

2013-12-09