Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03395:Egfr'

421236

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 #

IGL03395

Quality Score

Status

Chromosome

Chromosomal Location

16702203-16868158 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 16860261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020329 (fasta)

Gene Model

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

AlphaFold

Q01279

Predicted Effect

probably benign
Transcript: ENSMUST00000020329

SMART Domains

Protein: ENSMUSP00000020329
Gene: ENSMUSG00000020122

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	G	11: 102,663,746 (GRCm39)	D308G	probably damaging	Het
Adgrg3	A	T	8: 95,761,701 (GRCm39)	I155F	probably damaging	Het
Ado	T	C	10: 67,384,368 (GRCm39)	Y79C	probably benign	Het
Aox1	T	C	1: 58,107,884 (GRCm39)		probably benign	Het
Bicd2	T	A	13: 49,528,734 (GRCm39)	D165E	probably damaging	Het
Ccdc124	A	C	8: 71,321,251 (GRCm39)	M163R	probably benign	Het
Ceacam5	T	C	7: 17,479,304 (GRCm39)		probably benign	Het
Cenpq	A	G	17: 41,234,449 (GRCm39)	L247P	probably damaging	Het
Crat	A	G	2: 30,294,978 (GRCm39)	V479A	probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Emc9	C	T	14: 55,822,197 (GRCm39)	A72T	probably benign	Het
Fbxo5	G	A	10: 5,751,935 (GRCm39)	S226F	probably benign	Het
Gm42688	A	C	6: 83,085,352 (GRCm39)	E737D	possibly damaging	Het
Got1l1	G	T	8: 27,690,885 (GRCm39)	H54Q	probably benign	Het
Grid2	G	A	6: 63,886,053 (GRCm39)	V150I	possibly damaging	Het
Klc4	C	T	17: 46,943,789 (GRCm39)	V506M	probably damaging	Het
Lrrc8c	A	G	5: 105,754,495 (GRCm39)	N90S	probably benign	Het
Lrrk2	T	A	15: 91,681,617 (GRCm39)		probably null	Het
Mbd6	G	A	10: 127,119,286 (GRCm39)	R950C	probably damaging	Het
Nol11	A	G	11: 107,066,548 (GRCm39)	V414A	probably benign	Het
Or7e178	A	T	9: 20,225,847 (GRCm39)	M123K	probably damaging	Het
Pcnt	T	C	10: 76,272,325 (GRCm39)	E177G	possibly damaging	Het
Pcnx2	G	T	8: 126,614,262 (GRCm39)	D396E	probably benign	Het
Pcyt2	A	T	11: 120,503,876 (GRCm39)		probably null	Het
Pds5a	T	C	5: 65,809,792 (GRCm39)	D390G	possibly damaging	Het
Pik3r2	T	C	8: 71,224,999 (GRCm39)	T155A	probably benign	Het
Rab31	T	A	17: 66,003,362 (GRCm39)	H95L	probably benign	Het
Rfx5	C	T	3: 94,865,113 (GRCm39)	R259*	probably null	Het
Slc6a17	T	C	3: 107,384,622 (GRCm39)	D285G	probably damaging	Het
Spats2l	A	T	1: 57,977,175 (GRCm39)	I318F	probably damaging	Het
Spef1l	G	T	7: 139,556,589 (GRCm39)		probably benign	Het
Tcf12	A	G	9: 71,783,304 (GRCm39)	S361P	probably damaging	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
IGL02994:Egfr	APN	11	16,861,811 (GRCm39)	missense	probably damaging	1.00
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