Incidental Mutation 'R7723:Egf'
ID 595323
Institutional Source Beutler Lab
Gene Symbol Egf
Ensembl Gene ENSMUSG00000028017
Gene Name epidermal growth factor
Synonyms
MMRRC Submission 045779-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7723 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 129471223-129548971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129499786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 785 (M785L)
Ref Sequence ENSEMBL: ENSMUSP00000029653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029653] [ENSMUST00000197079] [ENSMUST00000197713] [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: M785L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: M785L

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 benign
Transcript: ENSMUST00000197079
AA Change: M284L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: M284L

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 benign
Transcript: ENSMUST00000197713
SMART Domains Protein: ENSMUSP00000143108
Gene: ENSMUSG00000028017

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 benign
Transcript: ENSMUST00000199615
AA Change: M284L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: M284L

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip G A 2: 22,761,574 (GRCm39) probably null Het
Brinp3 C T 1: 146,577,409 (GRCm39) T148I probably damaging Het
C1qa A T 4: 136,623,744 (GRCm39) C153* probably null Het
Camkk1 G T 11: 72,928,058 (GRCm39) R363L probably benign Het
Ccdc80 T G 16: 44,946,798 (GRCm39) probably null Het
Cenpu T C 8: 47,029,349 (GRCm39) S351P probably damaging Het
Chd9 C T 8: 91,741,837 (GRCm39) L1609F unknown Het
Cnr1 T A 4: 33,944,416 (GRCm39) I268N probably damaging Het
Cyp3a59 A T 5: 146,016,154 (GRCm39) I4F probably benign Het
Dph6 A G 2: 114,475,236 (GRCm39) V93A probably damaging Het
Fbn1 A T 2: 125,223,954 (GRCm39) C598* probably null Het
Fer T C 17: 64,203,273 (GRCm39) S68P probably damaging Het
Herc1 C T 9: 66,279,158 (GRCm39) T22I probably benign Het
Kat2b A G 17: 53,945,415 (GRCm39) D278G possibly damaging Het
Kdm1a C T 4: 136,285,060 (GRCm39) V520I probably benign Het
Lrrc4c G T 2: 97,460,999 (GRCm39) V542L possibly damaging Het
Lrrtm3 T C 10: 63,924,427 (GRCm39) T247A possibly damaging Het
Macf1 T C 4: 123,326,717 (GRCm39) S4929G probably benign Het
Mbd4 A T 6: 115,822,324 (GRCm39) H428Q possibly damaging Het
Mink1 C G 11: 70,503,736 (GRCm39) Q1183E probably benign Het
Myo9a C T 9: 59,687,141 (GRCm39) P82L probably damaging Het
Nts T C 10: 102,320,784 (GRCm39) T102A probably damaging Het
Nup35 T C 2: 80,486,375 (GRCm39) I230T possibly damaging Het
Nwd2 A T 5: 63,965,347 (GRCm39) T1644S possibly damaging Het
Nynrin T A 14: 56,109,502 (GRCm39) N1536K possibly damaging Het
Or10d5j A T 9: 39,867,920 (GRCm39) Y104N possibly damaging Het
Or13p10 A G 4: 118,522,914 (GRCm39) S67G probably benign Het
Or2at4 A G 7: 99,384,884 (GRCm39) Y178C possibly damaging Het
Or2l13b A T 16: 19,349,358 (GRCm39) L104* probably null Het
Or5d44 A C 2: 88,141,819 (GRCm39) V107G possibly damaging Het
Palld C T 8: 62,164,492 (GRCm39) V400I probably damaging Het
Pank2 T C 2: 131,122,258 (GRCm39) V261A probably damaging Het
Pcdhb3 C A 18: 37,435,565 (GRCm39) N510K probably damaging Het
Pfkfb2 A T 1: 130,635,325 (GRCm39) Y79N probably damaging Het
Phc2 C T 4: 128,616,882 (GRCm39) A385V probably benign Het
Prob1 T C 18: 35,785,942 (GRCm39) T771A possibly damaging Het
Psmb6 T C 11: 70,417,396 (GRCm39) V109A possibly damaging Het
Ptcd1 T C 5: 145,091,639 (GRCm39) T487A probably damaging Het
Ralgapa1 A T 12: 55,788,298 (GRCm39) M595K probably benign Het
Rps12 A T 10: 23,662,752 (GRCm39) V14D probably benign Het
Scn3b C A 9: 40,199,693 (GRCm39) S203* probably null Het
Serinc1 G A 10: 57,403,918 (GRCm39) P15L probably benign Het
Six2 A G 17: 85,995,103 (GRCm39) I93T probably benign Het
Slco1a1 T A 6: 141,854,795 (GRCm39) I619F probably damaging Het
Snx25 A C 8: 46,491,516 (GRCm39) V858G probably damaging Het
Sspo G A 6: 48,441,572 (GRCm39) C1903Y probably damaging Het
Tas2r116 T A 6: 132,832,867 (GRCm39) I156N probably benign Het
Tasp1 G T 2: 139,827,051 (GRCm39) T189K probably damaging Het
Tdrd6 A T 17: 43,936,851 (GRCm39) M1399K probably benign Het
Tecta C A 9: 42,278,232 (GRCm39) C1092F probably damaging Het
Tmem150a G A 6: 72,336,057 (GRCm39) V215I probably damaging Het
Tmem176b C T 6: 48,812,869 (GRCm39) V109I probably benign Het
Trav8d-1 T A 14: 53,016,321 (GRCm39) I69K probably damaging Het
Ttn A T 2: 76,638,419 (GRCm39) L13954I probably damaging Het
Veph1 C A 3: 66,113,093 (GRCm39) C237F possibly damaging Het
Vmn1r121 G A 7: 20,832,119 (GRCm39) T107I probably damaging Het
Zdhhc13 G A 7: 48,458,567 (GRCm39) M300I probably benign Het
Zfp608 T C 18: 55,030,673 (GRCm39) D1089G 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
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
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'- TTGAACTCAGATTGTGGTAAGGAAC -3'
(R):5'- GCATCAGCAACATCCTTGAC -3'

Sequencing Primer
(F):5'- TCTCACAGGGGAGGGGTAC -3'
(R):5'- GCAACATCCTTGACCTCTCCAG -3'
Posted On 2019-11-12