Incidental Mutation 'IGL02945:Egfr'
ID364710
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egfr
Ensembl Gene ENSMUSG00000020122
Gene Nameepidermal growth factor receptor
Synonymsavian 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 #IGL02945
Quality Score
Status
Chromosome11
Chromosomal Location16752203-16918158 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 16752514 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 11 (L11Q)
Ref Sequence ENSEMBL: ENSMUSP00000099948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020329] [ENSMUST00000102884]
Predicted Effect probably damaging
Transcript: ENSMUST00000020329
AA Change: L11Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000020329
Gene: ENSMUSG00000020122
AA Change: L11Q

DomainStartEndE-ValueType
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: L11Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099948
Gene: ENSMUSG00000020122
AA Change: L11Q

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139722
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik A T 10: 51,756,999 noncoding transcript Het
Adgrf4 T C 17: 42,667,366 Q362R probably benign Het
Akap6 A G 12: 52,880,837 N177D probably damaging Het
Alms1 A G 6: 85,620,933 I914V probably damaging Het
Arhgap11a A T 2: 113,837,473 S394R possibly damaging Het
Cacna1h C T 17: 25,388,059 V962I probably damaging Het
Calr3 A T 8: 72,438,557 L91Q probably damaging Het
Ccnf T C 17: 24,224,916 E626G probably damaging Het
Clec10a A T 11: 70,170,542 I295F possibly damaging Het
Cop1 A T 1: 159,306,689 N167I probably benign Het
Csmd1 G T 8: 16,271,570 Q505K possibly damaging Het
Ctrc A C 4: 141,846,252 V6G possibly damaging Het
Cyp2c69 T C 19: 39,886,647 R21G possibly damaging Het
Dnah5 A G 15: 28,270,426 H958R probably benign Het
Erich2 A G 2: 70,534,394 T371A probably damaging Het
Fbxl21 T A 13: 56,527,170 F111L probably damaging Het
Grik4 G T 9: 42,597,879 T416N possibly damaging Het
Grin3a A G 4: 49,792,971 V254A possibly damaging Het
Hat1 G A 2: 71,420,693 R195K probably benign Het
Hmgb4 A C 4: 128,260,594 Y60* probably null Het
Ighv12-3 A G 12: 114,366,717 W53R probably damaging Het
Irs2 C A 8: 11,007,781 C217F probably damaging Het
Kcnb1 T C 2: 167,188,388 E79G probably benign Het
Lingo3 A G 10: 80,834,698 I466T probably damaging Het
Lyst T C 13: 13,761,198 S3665P possibly damaging Het
Myh9 A T 15: 77,762,005 L1926Q probably benign Het
Myom1 A G 17: 71,092,093 probably benign Het
Nbeal1 T C 1: 60,206,410 F198L probably damaging Het
Nktr A G 9: 121,728,631 T63A probably damaging Het
Nle1 A T 11: 82,904,084 probably benign Het
Nr3c2 A T 8: 76,909,659 D463V probably damaging Het
Olfr181 A T 16: 58,926,340 I77N probably damaging Het
Olfr902 A G 9: 38,449,516 I215V probably benign Het
Pcdhb18 T C 18: 37,489,995 I126T probably benign Het
Pgm2 A G 4: 99,961,534 I127V probably benign Het
Rai14 A G 15: 10,574,709 I721T probably benign Het
Rps6ka1 A G 4: 133,867,199 Y57H probably damaging Het
Scara3 T A 14: 65,931,211 D319V probably damaging Het
Selp G A 1: 164,133,929 G404S probably damaging Het
Serinc3 A G 2: 163,630,916 probably benign Het
Slc4a8 A G 15: 100,807,199 probably null Het
Spen G T 4: 141,494,313 L325I unknown Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Thumpd1 A T 7: 119,716,747 S326R possibly damaging Het
Tmem255b T C 8: 13,455,141 S149P probably damaging Het
Tnni3k A T 3: 155,037,438 S95T possibly damaging Het
Trim66 G A 7: 109,460,176 Q954* probably null Het
Ttn A T 2: 76,751,972 I22859N probably damaging Het
Zfp319 A T 8: 95,323,818 probably benign Het
Other mutations in Egfr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Egfr APN 11 16863020 missense probably damaging 1.00
IGL01529:Egfr APN 11 16863014 missense probably benign
IGL01556:Egfr APN 11 16905382 missense probably damaging 1.00
IGL02627:Egfr APN 11 16869346 missense probably damaging 1.00
IGL02862:Egfr APN 11 16883562 missense probably benign 0.25
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
R8315:Egfr UTSW 11 16875027 missense probably benign 0.08
R8320:Egfr UTSW 11 16891251 missense probably damaging 1.00
R8324:Egfr UTSW 11 16858971 missense probably damaging 0.99
R8324:Egfr UTSW 11 16908885 missense probably damaging 0.98
R8347:Egfr UTSW 11 16878174 missense probably damaging 1.00
R8440:Egfr UTSW 11 16909831 missense probably damaging 1.00
R8511:Egfr UTSW 11 16896949 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 On2015-12-18