Incidental Mutation 'R6434:Egfr'
| ID |
518711 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
044572-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R6434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
16702203-16868158 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16819294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 275
(Y275H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020329]
[ENSMUST00000102884]
|
| AlphaFold |
Q01279 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020329
AA Change: Y275H
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000020329
Gene: ENSMUSG00000020122
AA Change: Y275H
| 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 benign
Transcript: ENSMUST00000102884
AA Change: Y275H
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099948
Gene: ENSMUSG00000020122
AA Change: Y275H
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
98% (57/58) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alcam |
A |
C |
16: 52,109,190 (GRCm39) |
|
probably null |
Het |
| Ankle2 |
A |
G |
5: 110,401,759 (GRCm39) |
Y807C |
probably damaging |
Het |
| Arhgef26 |
A |
C |
3: 62,336,335 (GRCm39) |
M625L |
probably damaging |
Het |
| Aspdh |
G |
A |
7: 44,116,474 (GRCm39) |
A86T |
probably damaging |
Het |
| Atl1 |
G |
T |
12: 70,006,199 (GRCm39) |
E502* |
probably null |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,790 (GRCm39) |
F105S |
probably damaging |
Het |
| Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
| Ccdc81 |
T |
C |
7: 89,525,352 (GRCm39) |
Y474C |
probably damaging |
Het |
| Ccdc82 |
T |
C |
9: 13,251,659 (GRCm39) |
|
probably benign |
Het |
| Ccdc96 |
T |
G |
5: 36,643,707 (GRCm39) |
V571G |
probably damaging |
Het |
| Col6a5 |
C |
A |
9: 105,814,544 (GRCm39) |
E489D |
unknown |
Het |
| Dchs2 |
T |
A |
3: 83,176,577 (GRCm39) |
I845N |
probably damaging |
Het |
| Dnajc11 |
T |
C |
4: 152,063,751 (GRCm39) |
V449A |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,193,268 (GRCm39) |
Y269* |
probably null |
Het |
| Fan1 |
T |
A |
7: 64,004,129 (GRCm39) |
D779V |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,123,942 (GRCm39) |
V200A |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,884,253 (GRCm39) |
I1214T |
probably benign |
Het |
| Gm3415 |
T |
A |
5: 146,494,752 (GRCm39) |
F138L |
probably benign |
Het |
| Gtse1 |
C |
A |
15: 85,759,370 (GRCm39) |
T626K |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,393,464 (GRCm39) |
H4114Q |
probably damaging |
Het |
| Ifi44 |
T |
A |
3: 151,454,826 (GRCm39) |
N133I |
probably benign |
Het |
| Ilf3 |
A |
G |
9: 21,314,447 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,437,919 (GRCm39) |
T593A |
probably damaging |
Het |
| Iqgap2 |
A |
T |
13: 95,819,441 (GRCm39) |
W634R |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,641,105 (GRCm39) |
N448I |
probably damaging |
Het |
| Klhl33 |
G |
A |
14: 51,130,564 (GRCm39) |
A310V |
probably damaging |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Lrig2 |
T |
C |
3: 104,398,863 (GRCm39) |
K222E |
possibly damaging |
Het |
| Manba |
G |
A |
3: 135,217,734 (GRCm39) |
|
probably null |
Het |
| Mga |
A |
T |
2: 119,754,419 (GRCm39) |
Q976L |
probably damaging |
Het |
| Mtmr4 |
A |
G |
11: 87,504,309 (GRCm39) |
D1086G |
probably damaging |
Het |
| Muc20 |
A |
G |
16: 32,615,176 (GRCm39) |
V67A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,973,193 (GRCm39) |
L97Q |
probably damaging |
Het |
| Nars1 |
T |
C |
18: 64,640,872 (GRCm39) |
T195A |
probably benign |
Het |
| Npat |
A |
T |
9: 53,474,739 (GRCm39) |
I844L |
possibly damaging |
Het |
| Nrxn3 |
T |
C |
12: 88,762,285 (GRCm39) |
F111L |
probably benign |
Het |
| Obp2b |
T |
C |
2: 25,628,599 (GRCm39) |
Y118H |
probably damaging |
Het |
| Or5w1 |
T |
A |
2: 87,486,558 (GRCm39) |
K236* |
probably null |
Het |
| Or7e170 |
A |
T |
9: 19,795,141 (GRCm39) |
Y153* |
probably null |
Het |
| Patj |
A |
G |
4: 98,379,866 (GRCm39) |
D215G |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,680,196 (GRCm39) |
Y979* |
probably null |
Het |
| Septin3 |
G |
A |
15: 82,163,804 (GRCm39) |
V54I |
possibly damaging |
Het |
| Shc3 |
A |
G |
13: 51,603,326 (GRCm39) |
Y260H |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,477 (GRCm39) |
T942A |
probably benign |
Het |
| Slco1c1 |
T |
C |
6: 141,493,576 (GRCm39) |
S371P |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,080,574 (GRCm39) |
I2029N |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,268,422 (GRCm39) |
V2089A |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,088,230 (GRCm39) |
S5016P |
probably damaging |
Het |
| Tril |
G |
C |
6: 53,795,493 (GRCm39) |
D576E |
probably damaging |
Het |
| Tubb2b |
C |
T |
13: 34,311,561 (GRCm39) |
A411T |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,156,949 (GRCm39) |
Y2325H |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,608,395 (GRCm39) |
C1547* |
probably null |
Het |
| Utrn |
A |
T |
10: 12,401,171 (GRCm39) |
W98R |
probably damaging |
Het |
| Vps35 |
C |
T |
8: 86,000,124 (GRCm39) |
D501N |
possibly damaging |
Het |
| Wdr48 |
T |
C |
9: 119,745,879 (GRCm39) |
S421P |
possibly damaging |
Het |
| Yju2b |
A |
G |
8: 84,989,630 (GRCm39) |
I63T |
probably damaging |
Het |
| Zfp719 |
C |
A |
7: 43,240,412 (GRCm39) |
H667N |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTTCTGACTATCCTGGAAAGGC -3'
(R):5'- AGGCAGACACTAGCCTACAG -3'
Sequencing Primer
(F):5'- CTGACTATCCTGGAAAGGCTTACTAG -3'
(R):5'- TAGCCTACAGGACAACAAGGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation