Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02627:Egfr'

301131

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: 0.928) question?

Stock #

IGL02627

Quality Score

Status

Chromosome

Chromosomal Location

16702203-16868158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16819346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 292 (V292E)

Ref Sequence

ENSEMBL: ENSMUSP00000099948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020329] [ENSMUST00000102884]

AlphaFold

Q01279

Predicted Effect

probably damaging
Transcript: ENSMUST00000020329
AA Change: V292E

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

SMART Domains

Protein: ENSMUSP00000020329
Gene: ENSMUSG00000020122
AA Change: V292E

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

probably damaging
Transcript: ENSMUST00000102884
AA Change: V292E

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

SMART Domains

Protein: ENSMUSP00000099948
Gene: ENSMUSG00000020122
AA Change: V292E

Domain	Start	End	E-Value	Type
low complexity region	5	25	N/A	INTRINSIC
Pfam:Recep_L_domain	57	168	5e-33	PFAM
low complexity region	182	195	N/A	INTRINSIC
FU	228	270	6.07e-4	SMART
Pfam:Recep_L_domain	361	481	2e-29	PFAM
FU	496	547	8.25e-6	SMART
FU	552	601	4.38e-10	SMART
FU	614	654	4.54e0	SMART

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,685,777 (GRCm39)	K353M	probably damaging	Het
Arhgap32	T	C	9: 32,157,302 (GRCm39)	Y100H	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cfap418	G	A	4: 10,898,039 (GRCm39)	C207Y	probably damaging	Het
Ckap5	A	T	2: 91,406,366 (GRCm39)	N752I	probably damaging	Het
Dgkz	T	A	2: 91,769,055 (GRCm39)		probably benign	Het
Gnb3	T	C	6: 124,811,678 (GRCm39)	T329A	probably damaging	Het
Igkv3-2	A	T	6: 70,675,810 (GRCm39)	T40S	probably damaging	Het
Kcnq2	T	C	2: 180,724,120 (GRCm39)		probably benign	Het
Mbip	T	C	12: 56,382,590 (GRCm39)	Q292R	probably benign	Het
Mgat5b	T	C	11: 116,874,442 (GRCm39)	Y625H	probably damaging	Het
Ms4a4d	A	T	19: 11,525,987 (GRCm39)	E40D	probably damaging	Het
Naip1	T	C	13: 100,562,156 (GRCm39)	E1003G	possibly damaging	Het
Ncf2	G	A	1: 152,686,759 (GRCm39)		probably benign	Het
Nfkbiz	A	G	16: 55,636,714 (GRCm39)	V529A	probably damaging	Het
Osr2	A	G	15: 35,300,600 (GRCm39)	N52S	possibly damaging	Het
Prag1	A	G	8: 36,606,593 (GRCm39)	D778G	possibly damaging	Het
Rsl1d1	G	T	16: 11,012,415 (GRCm39)	A337E	possibly damaging	Het
Sall3	A	T	18: 81,015,576 (GRCm39)	L784Q	possibly damaging	Het
Spen	A	G	4: 141,200,326 (GRCm39)	I2744T	probably damaging	Het
Tfip11	A	C	5: 112,477,679 (GRCm39)	S145R	possibly damaging	Het
Tonsl	T	C	15: 76,518,295 (GRCm39)	D559G	probably damaging	Het
Trmt5	A	T	12: 73,328,229 (GRCm39)	S325T	probably damaging	Het
Ubr1	A	T	2: 120,771,472 (GRCm39)	V472D	probably damaging	Het
Vmn1r30	T	A	6: 58,412,746 (GRCm39)	T29S	probably benign	Het
Vps29	T	C	5: 122,500,908 (GRCm39)	S158P	probably benign	Het
Wdr82	T	C	9: 106,053,886 (GRCm39)	V79A	possibly damaging	Het
Wfdc16	T	A	2: 164,480,383 (GRCm39)	E37D	possibly 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
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
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

2015-04-16