Incidental Mutation 'IGL02902:Egf'
ID 363651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Egf
Ensembl Gene ENSMUSG00000028017
Gene Name epidermal growth factor
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02902
Quality Score
Status
Chromosome 3
Chromosomal Location 129471223-129548971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129474796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1124 (T1124A)
Ref Sequence ENSEMBL: ENSMUSP00000029653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029653] [ENSMUST00000197079] [ENSMUST00000199615]
AlphaFold P01132
PDB Structure ROLE OF THE 6-20 DISULFIDE BRIDGE IN THE STRUCTURE AND ACTIVITY OF EPIDERMAL GROWTH FACTOR, NMR, 20 STRUCTURES [SOLUTION NMR]
SOLUTION STRUCTURE OF MURINE EPIDERMAL GROWTH FACTOR DETERMINED BY NMR SPECTROSCOPY AND REFINED BY ENERGY MINIMIZATION WITH RESTRAINTS [SOLUTION NMR]
THREE-DIMENSIONAL NUCLEAR MAGNETIC RESONANCE STRUCTURES OF MOUSE EPIDERMAL GROWTH FACTOR IN ACIDIC AND PHYSIOLOGICAL PH SOLUTIONS [SOLUTION NMR]
THREE-DIMENSIONAL NUCLEAR MAGNETIC RESONANCE STRUCTURES OF MOUSE EPIDERMAL GROWTH FACTOR IN ACIDIC AND PHYSIOLOGICAL PH SOLUTIONS [SOLUTION NMR]
THREE-DIMENSIONAL NUCLEAR MAGNETIC RESONANCE STRUCTURES OF MOUSE EPIDERMAL GROWTH FACTOR IN ACIDIC AND PHYSIOLOGICAL PH SOLUTIONS [SOLUTION NMR]
THREE-DIMENSIONAL NUCLEAR MAGNETIC RESONANCE STRUCTURES OF MOUSE EPIDERMAL GROWTH FACTOR IN ACIDIC AND PHYSIOLOGICAL PH SOLUTIONS [SOLUTION NMR]
SOLUTION STRUCTURE THE MEGF/TGFALPHA44-50 CHIMERIC GROWTH FACTOR [SOLUTION NMR]
SOLUTION STRUCTURE OF MURINE EPIDERMAL GROWTH FACTOR DETERMINED BY NMR SPECTROSCOPY AND REFINED BY ENERGY MINIMIZATION WITH RESTRAINTS [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000029653
AA Change: T1124A

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: T1124A

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 noncoding transcript
Transcript: ENSMUST00000174960
Predicted Effect probably benign
Transcript: ENSMUST00000197079
AA Change: T623A

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: T623A

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 noncoding transcript
Transcript: ENSMUST00000197250
Predicted Effect probably benign
Transcript: ENSMUST00000199615
AA Change: T582A

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: T582A

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
Coding Region Coverage
Validation Efficiency
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
2810459M11Rik G T 1: 85,974,087 (GRCm39) V135F possibly damaging Het
Aatk T C 11: 119,902,603 (GRCm39) T541A probably benign Het
Abcc1 T C 16: 14,240,991 (GRCm39) L516P probably damaging Het
Actl6a T A 3: 32,776,791 (GRCm39) V350E possibly damaging Het
Afm A G 5: 90,674,222 (GRCm39) K245E possibly damaging Het
Agr3 T C 12: 35,996,915 (GRCm39) V63A probably damaging Het
Arhgef28 A T 13: 98,083,383 (GRCm39) M1162K probably damaging Het
Casq2 T A 3: 101,994,113 (GRCm39) C53* probably null Het
Ccdc181 T C 1: 164,107,470 (GRCm39) V51A probably benign Het
Cd101 A G 3: 100,926,310 (GRCm39) probably benign Het
Csdc2 T C 15: 81,832,801 (GRCm39) V69A probably benign Het
Cyp2c23 A T 19: 44,009,997 (GRCm39) probably benign Het
Dnph1 A G 17: 46,809,427 (GRCm39) probably benign Het
Gpr45 A G 1: 43,072,371 (GRCm39) E338G possibly damaging Het
Grb14 A C 2: 64,768,762 (GRCm39) L98R probably damaging Het
Gucy1a1 T C 3: 82,026,224 (GRCm39) S77G possibly damaging Het
Helb A G 10: 119,925,390 (GRCm39) S996P probably benign Het
Huwe1 A G X: 150,669,762 (GRCm39) E1405G probably damaging Het
Ifi47 T C 11: 48,986,617 (GRCm39) I128T probably benign Het
Ift140 T A 17: 25,309,736 (GRCm39) Y1089N probably damaging Het
Ift56 A C 6: 38,402,097 (GRCm39) S530R probably benign Het
Il1r1 A T 1: 40,341,569 (GRCm39) H324L probably benign Het
Irx1 C T 13: 72,107,974 (GRCm39) R236H probably benign Het
Itpr3 T C 17: 27,323,530 (GRCm39) V1185A probably benign Het
Kif19a T C 11: 114,676,396 (GRCm39) V450A possibly damaging Het
Krtap21-1 G T 16: 89,200,446 (GRCm39) Y65* probably null Het
Ltn1 A T 16: 87,176,693 (GRCm39) N1704K possibly damaging Het
Med1 T C 11: 98,047,335 (GRCm39) probably benign Het
Meis2 T A 2: 115,893,804 (GRCm39) H36L probably damaging Het
Mier2 T C 10: 79,385,456 (GRCm39) N124S probably damaging Het
Mmp20 A G 9: 7,654,171 (GRCm39) probably null Het
Muc4 A G 16: 32,569,212 (GRCm39) T91A possibly damaging Het
Myo3b T A 2: 70,119,745 (GRCm39) V935E probably benign Het
Ndufa7 T C 17: 34,048,632 (GRCm39) probably benign Het
Nipal1 A G 5: 72,825,405 (GRCm39) E366G possibly damaging Het
Nobox A T 6: 43,282,617 (GRCm39) N263K probably benign Het
Notch2 A G 3: 98,018,890 (GRCm39) D684G probably damaging Het
Odr4 C A 1: 150,260,179 (GRCm39) probably null Het
Or2t1 A G 14: 14,328,789 (GRCm38) H226R probably benign Het
Or4c12b T A 2: 89,647,508 (GRCm39) Y273* probably null Het
Or5p69 C A 7: 107,967,336 (GRCm39) T213K probably damaging Het
Or5w13 T C 2: 87,523,344 (GRCm39) N294S probably damaging Het
Or6aa1 T C 7: 86,043,743 (GRCm39) probably benign Het
Plau A C 14: 20,889,965 (GRCm39) D270A possibly damaging Het
Pof1b T C X: 111,558,809 (GRCm39) probably null Het
Pramel23 A G 4: 143,424,913 (GRCm39) C177R probably damaging Het
Prtn3 A T 10: 79,717,767 (GRCm39) probably null Het
Ptges3 T A 10: 127,904,616 (GRCm39) D26E probably benign Het
Pxmp2 T C 5: 110,429,160 (GRCm39) E99G probably benign Het
Rasgef1a A G 6: 118,060,068 (GRCm39) R106G probably benign Het
Rnf208 T C 2: 25,133,774 (GRCm39) V156A probably benign Het
Rps6ka1 A T 4: 133,599,292 (GRCm39) I45N possibly damaging Het
Rps6ka4 C T 19: 6,809,623 (GRCm39) probably null Het
Rsbn1 G T 3: 103,860,972 (GRCm39) C466F possibly damaging Het
Shkbp1 A T 7: 27,042,141 (GRCm39) C605S probably damaging Het
Slc2a10 G A 2: 165,360,142 (GRCm39) D531N probably benign Het
Sox13 A G 1: 133,317,204 (GRCm39) L143P probably damaging Het
Stx2 C T 5: 129,069,285 (GRCm39) R142Q probably damaging Het
Tanc1 T A 2: 59,623,431 (GRCm39) probably benign Het
Tubgcp5 C T 7: 55,456,355 (GRCm39) Q316* probably null Het
Ubc A G 5: 125,463,293 (GRCm39) V678A probably benign Het
Unc5d G A 8: 29,365,634 (GRCm39) T117I probably damaging Het
Vmn2r4 T C 3: 64,314,337 (GRCm39) I126V probably benign Het
Zfp410 T A 12: 84,378,594 (GRCm39) probably null 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
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
R4931:Egf UTSW 3 129,505,117 (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
Posted On 2015-12-18