Incidental Mutation 'R4931:Egf'
ID 380544
Institutional Source Beutler Lab
Gene Symbol Egf
Ensembl Gene ENSMUSG00000028017
Gene Name epidermal growth factor
Synonyms
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4931 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 129471223-129548971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129505117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 118 (F118S)
Ref Sequence ENSEMBL: ENSMUSP00000142497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029653] [ENSMUST00000197079] [ENSMUST00000197713] [ENSMUST00000199615]
AlphaFold P01132
Predicted Effect probably damaging
Transcript: ENSMUST00000029653
AA Change: F619S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: F619S

DomainStartEndE-ValueType
low complexity region 10 19 N/A INTRINSIC
LY 74 115 1.81e-3 SMART
LY 116 157 4.16e-3 SMART
LY 158 199 6.86e-4 SMART
LY 200 244 1.06e-4 SMART
EGF_like 330 361 7.86e-1 SMART
EGF_CA 362 402 2.4e-8 SMART
EGF 406 443 8.65e-1 SMART
EGF 444 483 5.79e-2 SMART
LY 510 552 1.1e-7 SMART
LY 553 595 4.32e-10 SMART
LY 596 639 6.05e-14 SMART
LY 640 682 2.89e-11 SMART
LY 683 724 1.3e-4 SMART
EGF 750 787 6.21e-2 SMART
EGF 841 876 9.13e0 SMART
EGF_CA 877 918 5.92e-8 SMART
EGF_like 919 959 3.56e-4 SMART
EGF 981 1019 2.79e-4 SMART
transmembrane domain 1039 1061 N/A INTRINSIC
low complexity region 1080 1099 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000197079
AA Change: F118S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: F118S

DomainStartEndE-ValueType
LY 9 51 5.5e-10 SMART
LY 52 94 2.1e-12 SMART
LY 95 138 2.9e-16 SMART
LY 139 181 1.4e-13 SMART
LY 182 223 6.4e-7 SMART
EGF 249 286 3e-4 SMART
EGF 340 375 4.4e-2 SMART
EGF_CA 376 417 2.8e-10 SMART
EGF_like 418 458 1.7e-6 SMART
EGF 480 518 1.3e-6 SMART
transmembrane domain 538 560 N/A INTRINSIC
low complexity region 579 598 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000197713
AA Change: F118S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143108
Gene: ENSMUSG00000028017
AA Change: F118S

DomainStartEndE-ValueType
LY 9 51 5.5e-10 SMART
LY 52 94 2.1e-12 SMART
LY 95 138 2.9e-16 SMART
LY 139 181 1.4e-13 SMART
LY 182 223 6.4e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000199615
AA Change: F118S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: F118S

DomainStartEndE-ValueType
LY 9 51 5.5e-10 SMART
LY 52 94 2.1e-12 SMART
LY 95 138 2.9e-16 SMART
LY 139 181 1.4e-13 SMART
LY 182 223 6.4e-7 SMART
EGF 249 286 3e-4 SMART
EGF 340 375 4.4e-2 SMART
EGF_CA 376 417 2.8e-10 SMART
EGF 439 477 1.3e-6 SMART
transmembrane domain 497 519 N/A INTRINSIC
low complexity region 538 557 N/A INTRINSIC
Meta Mutation Damage Score 0.9439 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
MGI Phenotype FUNCTION: This gene encodes epidermal growth factor (EGF), the founding member of the EGF family of growth factors that are implicated in cell proliferation and differentiation. The encoded protein can localize to the membrane and function in juxtacrine signaling or undergo proteolytic processing to generate a soluble form of the hormone. Mice lacking the encoded protein do not exhibit an abnormal phenotype but transgenic mice overexpressing the encoded protein exhibit hypospermatogenesis. [provided by RefSeq, Jul 2016]
PHENOTYPE: Null mutants have normal phenotype. Females triply null, for this locus and the amphiregulin and transforming growth factor alpha genes, are unable to nurse due to impaired mammary gland development and show mild integument and digestive system anomalies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dhx9 G A 1: 153,348,419 (GRCm39) P302L probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably damaging Het
Other mutations in Egf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Egf APN 3 129,505,098 (GRCm39) missense probably benign 0.01
IGL00579:Egf APN 3 129,491,447 (GRCm39) missense probably benign 0.36
IGL01307:Egf APN 3 129,533,642 (GRCm39) missense probably damaging 0.99
IGL01314:Egf APN 3 129,479,909 (GRCm39) missense probably benign 0.16
IGL01360:Egf APN 3 129,533,669 (GRCm39) missense probably damaging 1.00
IGL01367:Egf APN 3 129,496,104 (GRCm39) critical splice donor site probably null
IGL01610:Egf APN 3 129,499,909 (GRCm39) splice site probably benign
IGL01721:Egf APN 3 129,491,371 (GRCm39) nonsense probably null
IGL01803:Egf APN 3 129,530,415 (GRCm39) missense probably benign 0.09
IGL01866:Egf APN 3 129,529,529 (GRCm39) missense probably benign 0.03
IGL02001:Egf APN 3 129,510,417 (GRCm39) missense probably damaging 1.00
IGL02141:Egf APN 3 129,533,631 (GRCm39) nonsense probably null
IGL02209:Egf APN 3 129,500,956 (GRCm39) missense possibly damaging 0.93
IGL02347:Egf APN 3 129,472,026 (GRCm39) missense probably benign 0.17
IGL02821:Egf APN 3 129,496,128 (GRCm39) missense probably damaging 1.00
IGL02902:Egf APN 3 129,474,796 (GRCm39) missense probably benign 0.34
IGL03114:Egf APN 3 129,530,529 (GRCm39) missense probably damaging 0.98
PIT4151001:Egf UTSW 3 129,496,198 (GRCm39) missense probably benign 0.00
R0200:Egf UTSW 3 129,531,198 (GRCm39) missense probably damaging 1.00
R0200:Egf UTSW 3 129,499,882 (GRCm39) missense probably benign 0.00
R0463:Egf UTSW 3 129,531,198 (GRCm39) missense probably damaging 1.00
R0463:Egf UTSW 3 129,499,882 (GRCm39) missense probably benign 0.00
R0507:Egf UTSW 3 129,474,828 (GRCm39) missense possibly damaging 0.62
R0801:Egf UTSW 3 129,496,234 (GRCm39) splice site probably benign
R1495:Egf UTSW 3 129,506,655 (GRCm39) missense probably damaging 1.00
R1535:Egf UTSW 3 129,484,427 (GRCm39) missense probably benign 0.00
R1626:Egf UTSW 3 129,479,864 (GRCm39) missense possibly damaging 0.55
R1702:Egf UTSW 3 129,484,460 (GRCm39) missense probably benign 0.17
R1906:Egf UTSW 3 129,518,873 (GRCm39) missense probably benign 0.01
R2184:Egf UTSW 3 129,517,007 (GRCm39) nonsense probably null
R3842:Egf UTSW 3 129,491,442 (GRCm39) nonsense probably null
R3918:Egf UTSW 3 129,490,509 (GRCm39) missense probably null 0.22
R4073:Egf UTSW 3 129,529,618 (GRCm39) missense probably benign 0.01
R4074:Egf UTSW 3 129,529,618 (GRCm39) missense probably benign 0.01
R4075:Egf UTSW 3 129,529,618 (GRCm39) missense probably benign 0.01
R4307:Egf UTSW 3 129,512,744 (GRCm39) missense probably damaging 0.99
R4321:Egf UTSW 3 129,499,783 (GRCm39) missense probably damaging 1.00
R4617:Egf UTSW 3 129,484,442 (GRCm39) missense probably benign 0.02
R4646:Egf UTSW 3 129,513,925 (GRCm39) missense probably damaging 1.00
R4674:Egf UTSW 3 129,511,689 (GRCm39) missense probably damaging 1.00
R4798:Egf UTSW 3 129,510,327 (GRCm39) missense probably damaging 1.00
R4992:Egf UTSW 3 129,505,179 (GRCm39) splice site probably null
R5166:Egf UTSW 3 129,529,489 (GRCm39) missense probably benign
R5179:Egf UTSW 3 129,479,936 (GRCm39) missense probably damaging 0.99
R5230:Egf UTSW 3 129,511,673 (GRCm39) missense possibly damaging 0.95
R6043:Egf UTSW 3 129,530,434 (GRCm39) missense probably benign 0.09
R6119:Egf UTSW 3 129,530,421 (GRCm39) missense probably benign 0.00
R6493:Egf UTSW 3 129,512,737 (GRCm39) start gained probably benign
R6639:Egf UTSW 3 129,530,481 (GRCm39) missense probably benign 0.22
R6936:Egf UTSW 3 129,474,853 (GRCm39) missense possibly damaging 0.95
R7019:Egf UTSW 3 129,511,713 (GRCm39) splice site probably null
R7046:Egf UTSW 3 129,548,607 (GRCm39) missense unknown
R7463:Egf UTSW 3 129,533,664 (GRCm39) missense probably benign 0.39
R7472:Egf UTSW 3 129,479,912 (GRCm39) missense possibly damaging 0.53
R7723:Egf UTSW 3 129,499,786 (GRCm39) missense probably benign 0.00
R7920:Egf UTSW 3 129,529,489 (GRCm39) missense probably benign
R7952:Egf UTSW 3 129,533,645 (GRCm39) missense probably damaging 1.00
R8098:Egf UTSW 3 129,484,486 (GRCm39) missense probably benign 0.09
R8344:Egf UTSW 3 129,548,592 (GRCm39) missense unknown
R8557:Egf UTSW 3 129,548,600 (GRCm39) missense unknown
R8912:Egf UTSW 3 129,531,164 (GRCm39) missense possibly damaging 0.47
R9091:Egf UTSW 3 129,529,449 (GRCm39) critical splice donor site probably null
R9159:Egf UTSW 3 129,472,026 (GRCm39) missense probably benign 0.17
R9270:Egf UTSW 3 129,529,449 (GRCm39) critical splice donor site probably null
R9526:Egf UTSW 3 129,491,421 (GRCm39) missense probably benign
R9544:Egf UTSW 3 129,511,617 (GRCm39) missense probably benign 0.16
R9588:Egf UTSW 3 129,511,617 (GRCm39) missense probably benign 0.16
R9630:Egf UTSW 3 129,518,844 (GRCm39) missense possibly damaging 0.76
R9639:Egf UTSW 3 129,513,949 (GRCm39) missense possibly damaging 0.93
R9751:Egf UTSW 3 129,548,538 (GRCm39) missense probably damaging 0.99
R9772:Egf UTSW 3 129,499,756 (GRCm39) missense probably benign 0.01
R9776:Egf UTSW 3 129,530,514 (GRCm39) missense probably damaging 0.99
X0011:Egf UTSW 3 129,504,947 (GRCm39) missense probably benign 0.19
Z1176:Egf UTSW 3 129,491,366 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AAGTCTTCGGCGTTTGGAGC -3'
(R):5'- TTTGAATAGACCAGATGACTCAGGG -3'

Sequencing Primer
(F):5'- GAGCCATCCAGATTGGCCATTTC -3'
(R):5'- ACCAGATGACTCAGGGGTTTC -3'
Posted On 2016-04-15