Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02994:Egfr'

407061

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Egfr

Ensembl Gene

ENSMUSG00000020122

Gene Name

epidermal growth factor receptor

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

IGL02994

Quality Score

Status

Chromosome

Chromosomal Location

16702203-16868158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16861811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1197 (Y1197H)

Ref Sequence

ENSEMBL: ENSMUSP00000020329 (fasta)

Gene Model

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

AlphaFold

Q01279

Predicted Effect

probably damaging
Transcript: ENSMUST00000020329
AA Change: Y1197H

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

SMART Domains

Protein: ENSMUSP00000020329
Gene: ENSMUSG00000020122
AA Change: Y1197H

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,186,602 (GRCm39)		probably benign	Het
Ahnak2	A	G	12: 112,749,827 (GRCm39)	V137A	probably damaging	Het
Alk	G	T	17: 72,256,815 (GRCm39)	F681L	probably benign	Het
Ankrd35	T	C	3: 96,590,307 (GRCm39)		probably benign	Het
Aqp3	A	T	4: 41,093,614 (GRCm39)	C267S	probably benign	Het
Arl13b	T	A	16: 62,632,366 (GRCm39)	I76F	probably damaging	Het
Ccn2	T	A	10: 24,472,763 (GRCm39)	N224K	probably damaging	Het
Cdc42bpa	G	T	1: 179,827,002 (GRCm39)	R85L	probably damaging	Het
Dock4	T	G	12: 40,829,159 (GRCm39)	I1015R	probably damaging	Het
Dst	A	G	1: 34,268,333 (GRCm39)		probably benign	Het
Endod1	A	G	9: 14,268,183 (GRCm39)	V434A	possibly damaging	Het
Exosc9	A	G	3: 36,607,287 (GRCm39)		probably benign	Het
Fgg	G	T	3: 82,915,781 (GRCm39)	R74L	probably benign	Het
Fmo2	A	T	1: 162,708,189 (GRCm39)	D315E	probably damaging	Het
H2-M3	G	A	17: 37,581,629 (GRCm39)	S97N	probably benign	Het
Ighv14-2	T	A	12: 113,958,211 (GRCm39)	T77S	probably benign	Het
Klhl9	A	T	4: 88,639,434 (GRCm39)	L269*	probably null	Het
Lin37	G	A	7: 30,256,585 (GRCm39)	R84W	probably damaging	Het
Macroh2a1	T	C	13: 56,252,112 (GRCm39)		probably benign	Het
Mkln1	T	C	6: 31,467,378 (GRCm39)	S31P	probably damaging	Het
Nacad	A	G	11: 6,549,528 (GRCm39)	L1221P	possibly damaging	Het
Nbr1	A	T	11: 101,447,053 (GRCm39)	N13I	probably damaging	Het
Ndfip1	T	C	18: 38,585,469 (GRCm39)	I161T	probably damaging	Het
Nsg1	A	G	5: 38,312,946 (GRCm39)		probably benign	Het
Rsbn1l	G	T	5: 21,113,232 (GRCm39)	T430K	probably damaging	Het
Serpina6	A	G	12: 103,620,210 (GRCm39)	S180P	probably benign	Het
Slc4a5	T	C	6: 83,249,106 (GRCm39)	L570P	probably damaging	Het
Tank	A	G	2: 61,480,636 (GRCm39)		probably benign	Het
Tpd52	A	G	3: 9,012,590 (GRCm39)	F76L	probably benign	Het
Ubox5	A	C	2: 130,442,237 (GRCm39)	L150R	probably benign	Het
Zfp710	T	C	7: 79,731,581 (GRCm39)	S253P	probably benign	Het

Other mutations in Egfr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01338:Egfr	APN	11	16,813,020 (GRCm39)	missense	probably damaging	1.00
IGL01529:Egfr	APN	11	16,813,014 (GRCm39)	missense	probably benign
IGL01556:Egfr	APN	11	16,855,382 (GRCm39)	missense	probably damaging	1.00
IGL02627:Egfr	APN	11	16,819,346 (GRCm39)	missense	probably damaging	1.00
IGL02862:Egfr	APN	11	16,833,562 (GRCm39)	missense	probably benign	0.25
IGL02945:Egfr	APN	11	16,702,514 (GRCm39)	missense	probably damaging	1.00
IGL03395:Egfr	APN	11	16,860,261 (GRCm39)	splice site	probably benign
set	UTSW	11	16,821,881 (GRCm39)	splice site	probably benign
Velvet	UTSW	11	16,854,399 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Egfr	UTSW	11	16,860,214 (GRCm39)	missense	probably benign	0.00
R0196:Egfr	UTSW	11	16,861,746 (GRCm39)	missense	probably benign	0.02
R0513:Egfr	UTSW	11	16,822,855 (GRCm39)	missense	probably damaging	1.00
R0567:Egfr	UTSW	11	16,822,873 (GRCm39)	missense	probably benign	0.01
R0629:Egfr	UTSW	11	16,819,333 (GRCm39)	missense	probably damaging	1.00
R0961:Egfr	UTSW	11	16,812,964 (GRCm39)	missense	probably damaging	1.00
R1163:Egfr	UTSW	11	16,833,546 (GRCm39)	missense	probably benign	0.02
R1454:Egfr	UTSW	11	16,839,920 (GRCm39)	missense	probably benign
R1456:Egfr	UTSW	11	16,813,065 (GRCm39)	missense	probably benign	0.00
R1503:Egfr	UTSW	11	16,819,301 (GRCm39)	missense	possibly damaging	0.86
R1577:Egfr	UTSW	11	16,819,241 (GRCm39)	missense	probably benign	0.04
R1595:Egfr	UTSW	11	16,856,847 (GRCm39)	missense	probably damaging	0.99
R1699:Egfr	UTSW	11	16,809,019 (GRCm39)	missense	probably benign	0.14
R2172:Egfr	UTSW	11	16,861,562 (GRCm39)	missense	probably benign	0.00
R3690:Egfr	UTSW	11	16,821,881 (GRCm39)	splice site	probably benign
R3922:Egfr	UTSW	11	16,831,495 (GRCm39)	missense	probably damaging	1.00
R4444:Egfr	UTSW	11	16,821,027 (GRCm39)	missense	probably benign	0.00
R4685:Egfr	UTSW	11	16,808,980 (GRCm39)	missense	probably damaging	1.00
R4737:Egfr	UTSW	11	16,819,231 (GRCm39)	missense	probably damaging	0.99
R4814:Egfr	UTSW	11	16,819,354 (GRCm39)	missense	probably damaging	1.00
R4841:Egfr	UTSW	11	16,861,607 (GRCm39)	missense	probably benign	0.05
R4842:Egfr	UTSW	11	16,861,607 (GRCm39)	missense	probably benign	0.05
R4903:Egfr	UTSW	11	16,858,949 (GRCm39)	missense	probably damaging	1.00
R4964:Egfr	UTSW	11	16,858,949 (GRCm39)	missense	probably damaging	1.00
R4985:Egfr	UTSW	11	16,809,029 (GRCm39)	nonsense	probably null
R4998:Egfr	UTSW	11	16,831,493 (GRCm39)	missense	possibly damaging	0.58
R5001:Egfr	UTSW	11	16,854,434 (GRCm39)	missense	probably damaging	0.98
R5304:Egfr	UTSW	11	16,834,260 (GRCm39)	missense	probably benign
R5309:Egfr	UTSW	11	16,861,703 (GRCm39)	missense	probably benign	0.00
R5653:Egfr	UTSW	11	16,861,617 (GRCm39)	missense	probably benign	0.04
R5905:Egfr	UTSW	11	16,861,494 (GRCm39)	missense	probably damaging	1.00
R6051:Egfr	UTSW	11	16,833,607 (GRCm39)	missense	possibly damaging	0.87
R6052:Egfr	UTSW	11	16,861,554 (GRCm39)	missense	probably benign	0.16
R6114:Egfr	UTSW	11	16,854,374 (GRCm39)	missense	possibly damaging	0.46
R6261:Egfr	UTSW	11	16,839,964 (GRCm39)	missense	probably benign	0.11
R6434:Egfr	UTSW	11	16,819,294 (GRCm39)	missense	probably benign	0.25
R6475:Egfr	UTSW	11	16,841,259 (GRCm39)	missense	probably benign
R6799:Egfr	UTSW	11	16,846,952 (GRCm39)	missense	probably damaging	1.00
R7143:Egfr	UTSW	11	16,821,627 (GRCm39)	missense	probably benign	0.20
R7195:Egfr	UTSW	11	16,818,162 (GRCm39)	missense	probably damaging	1.00
R7459:Egfr	UTSW	11	16,846,967 (GRCm39)	missense	probably damaging	1.00
R7612:Egfr	UTSW	11	16,809,025 (GRCm39)	missense	possibly damaging	0.74
R7757:Egfr	UTSW	11	16,839,966 (GRCm39)	missense	possibly damaging	0.64
R7763:Egfr	UTSW	11	16,841,266 (GRCm39)	missense	probably damaging	1.00
R8315:Egfr	UTSW	11	16,825,027 (GRCm39)	missense	probably benign	0.08
R8320:Egfr	UTSW	11	16,841,251 (GRCm39)	missense	probably damaging	1.00
R8324:Egfr	UTSW	11	16,858,885 (GRCm39)	missense	probably damaging	0.98
R8324:Egfr	UTSW	11	16,808,971 (GRCm39)	missense	probably damaging	0.99
R8347:Egfr	UTSW	11	16,828,174 (GRCm39)	missense	probably damaging	1.00
R8440:Egfr	UTSW	11	16,859,831 (GRCm39)	missense	probably damaging	1.00
R8511:Egfr	UTSW	11	16,846,949 (GRCm39)	missense	probably damaging	1.00
R8708:Egfr	UTSW	11	16,817,300 (GRCm39)	critical splice donor site	probably benign
R8804:Egfr	UTSW	11	16,819,339 (GRCm39)	missense	probably benign	0.09
R8853:Egfr	UTSW	11	16,858,885 (GRCm39)	missense	possibly damaging	0.93
R8906:Egfr	UTSW	11	16,861,635 (GRCm39)	missense	probably damaging	1.00
R9177:Egfr	UTSW	11	16,855,410 (GRCm39)	missense	probably damaging	1.00
R9268:Egfr	UTSW	11	16,855,410 (GRCm39)	missense	probably damaging	1.00
R9335:Egfr	UTSW	11	16,820,991 (GRCm39)	missense	probably damaging	1.00
R9417:Egfr	UTSW	11	16,825,067 (GRCm39)	nonsense	probably null
R9454:Egfr	UTSW	11	16,837,155 (GRCm39)	missense	probably damaging	1.00
Z1177:Egfr	UTSW	11	16,819,319 (GRCm39)	missense	probably damaging	1.00
Z1177:Egfr	UTSW	11	16,812,954 (GRCm39)	missense	probably benign	0.05

Posted On

2016-08-02