Incidental Mutation 'R6043:Egf'
ID 483655
Institutional Source Beutler Lab
Gene Symbol Egf
Ensembl Gene ENSMUSG00000028017
Gene Name epidermal growth factor
Synonyms
MMRRC Submission 044211-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6043 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 129471223-129548971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129530434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 243 (S243P)
Ref Sequence ENSEMBL: ENSMUSP00000029653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029653]
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: S243P

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: S243P

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: ENSMUST00000198093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198992
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 T C 1: 171,080,170 (GRCm39) F44S probably damaging Het
Ap3b1 A T 13: 94,613,501 (GRCm39) T667S probably benign Het
Camsap1 T C 2: 25,819,937 (GRCm39) Y1516C probably benign Het
Ccl17 A G 8: 95,537,100 (GRCm39) M1V probably null Het
Cfhr1 T A 1: 139,478,606 (GRCm39) T255S probably benign Het
Clcn6 T C 4: 148,093,245 (GRCm39) N812D probably damaging Het
Cyp2b10 T C 7: 25,616,764 (GRCm39) F402L probably damaging Het
Dgkz A C 2: 91,766,234 (GRCm39) S776A probably benign Het
Dnaaf2 A T 12: 69,244,122 (GRCm39) L313Q probably damaging Het
Dnah10 G A 5: 124,878,924 (GRCm39) G2728S probably damaging Het
Dnah7b T A 1: 46,178,949 (GRCm39) M874K probably benign Het
Eef1akmt3 A T 10: 126,869,147 (GRCm39) L109Q probably damaging Het
Fbxw21 T C 9: 108,974,607 (GRCm39) I304M possibly damaging Het
Fcgr4 T C 1: 170,847,699 (GRCm39) V99A probably damaging Het
Fhdc1 T C 3: 84,356,193 (GRCm39) E417G probably damaging Het
Flnc G T 6: 29,446,607 (GRCm39) G939V probably damaging Het
Herc1 A G 9: 66,315,436 (GRCm39) M1173V probably benign Het
Hspa2 C T 12: 76,453,096 (GRCm39) H597Y probably damaging Het
Itgb4 C T 11: 115,870,212 (GRCm39) T64I probably benign Het
Kif16b A G 2: 142,553,820 (GRCm39) S993P probably damaging Het
Kitl T A 10: 99,899,947 (GRCm39) V84E probably damaging Het
Klra17 A G 6: 129,849,150 (GRCm39) probably null Het
Map2k3 A G 11: 60,837,572 (GRCm39) D224G probably benign Het
Medag T G 5: 149,345,672 (GRCm39) F4V probably benign Het
Mob3b C T 4: 34,985,993 (GRCm39) V182I probably benign Het
Mvb12b G T 2: 33,764,402 (GRCm39) T49K probably damaging Het
Naaladl2 A G 3: 24,112,378 (GRCm39) V568A possibly damaging Het
Nbea T C 3: 55,693,896 (GRCm39) E2174G probably benign Het
Nmd3 T C 3: 69,652,580 (GRCm39) Y389H probably benign Het
Or13g1 A G 7: 85,955,547 (GRCm39) I258T probably damaging Het
Or4p19 C T 2: 88,242,589 (GRCm39) E138K probably benign Het
Pcare T C 17: 72,057,037 (GRCm39) D880G probably damaging Het
Pcdh1 T A 18: 38,336,327 (GRCm39) N103Y probably damaging Het
Pcm1 A G 8: 41,781,815 (GRCm39) D1905G possibly damaging Het
Plcd1 A G 9: 118,901,667 (GRCm39) F619S probably damaging Het
Ptdss1 T A 13: 67,111,433 (GRCm39) D166E probably damaging Het
Rnf213 T C 11: 119,332,927 (GRCm39) V2713A probably damaging Het
Sema4f T C 6: 82,896,634 (GRCm39) N200D probably damaging Het
Tjp1 A T 7: 64,973,837 (GRCm39) N472K probably damaging Het
Trav6n-5 T C 14: 53,342,608 (GRCm39) Y49H probably benign Het
Trbv2 A G 6: 41,024,904 (GRCm39) T107A probably benign Het
Unc13c T C 9: 73,643,933 (GRCm39) N1177S possibly damaging Het
Vmn1r212 A G 13: 23,068,258 (GRCm39) V25A probably damaging Het
Zfhx4 T G 3: 5,468,487 (GRCm39) S2882A probably benign Het
Zswim5 A C 4: 116,819,818 (GRCm39) S408R probably benign 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
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
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'- TGTCCCTCTAATCGTTACAAAGAC -3'
(R):5'- TTGGTCTTCAGAGGTGACCG -3'

Sequencing Primer
(F):5'- TGTTGCCAGAACCCCATTAAAG -3'
(R):5'- GGCAGCCTTCACAGAGCAC -3'
Posted On 2017-07-14