Incidental Mutation 'R4617:Egf'
ID 351098
Institutional Source Beutler Lab
Gene Symbol Egf
Ensembl Gene ENSMUSG00000028017
Gene Name epidermal growth factor
Synonyms
MMRRC Submission 041828-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4617 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 129471223-129548971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129484442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1001 (S1001T)
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: S1001T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: S1001T

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: S500T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: S500T

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: ENSMUST00000199209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199272
Predicted Effect probably benign
Transcript: ENSMUST00000199615
AA Change: S459T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: S459T

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 96% (66/69)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,369,493 (GRCm39) I363V probably benign Het
Acaa1a T A 9: 119,178,006 (GRCm39) S279R probably damaging Het
Akr1cl A G 1: 65,060,550 (GRCm39) C156R probably damaging Het
Arhgap11a G A 2: 113,664,423 (GRCm39) T620M probably benign Het
Brinp1 A G 4: 68,681,198 (GRCm39) I444T possibly damaging Het
Ccdc150 A G 1: 54,394,913 (GRCm39) I760V probably benign Het
Cdh26 G A 2: 178,102,435 (GRCm39) probably benign Het
Cpd A G 11: 76,731,441 (GRCm39) L255P probably damaging Het
Cyfip2 A G 11: 46,144,845 (GRCm39) Y670H probably damaging Het
Disp2 G A 2: 118,620,643 (GRCm39) M458I probably benign Het
Dot1l T C 10: 80,620,918 (GRCm39) I563T probably damaging Het
Elfn1 A G 5: 139,957,764 (GRCm39) Y256C probably damaging Het
Exoc4 C T 6: 33,839,139 (GRCm39) T725I probably benign Het
Fam168b A G 1: 34,859,063 (GRCm39) V72A possibly damaging Het
Fbxw20 C T 9: 109,046,631 (GRCm39) S443N probably damaging Het
Flacc1 A T 1: 58,700,601 (GRCm39) D301E probably benign Het
Flrt2 T C 12: 95,747,003 (GRCm39) V447A possibly damaging Het
Gm4846 A G 1: 166,323,550 (GRCm39) S58P probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Lpcat2b T C 5: 107,581,865 (GRCm39) L398P possibly damaging Het
Mapk8ip3 G A 17: 25,123,761 (GRCm39) P587L probably damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrpl38 T C 11: 116,023,278 (GRCm39) D325G probably damaging Het
Mtmr12 A G 15: 12,270,132 (GRCm39) E430G probably damaging Het
Mup18 T A 4: 61,590,154 (GRCm39) I125F possibly damaging Het
Ogdhl A G 14: 32,047,842 (GRCm39) R31G probably benign Het
Or13f5 A T 4: 52,825,399 (GRCm39) M1L probably benign Het
Pcdh1 C A 18: 38,330,913 (GRCm39) V697L probably benign Het
Pcdhga9 T C 18: 37,871,553 (GRCm39) Y461H probably damaging Het
Pdzrn4 A G 15: 92,667,723 (GRCm39) Y625C probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Poglut2 A C 1: 44,149,180 (GRCm39) F453V probably damaging Het
Ptprn T A 1: 75,228,931 (GRCm39) D828V possibly damaging Het
Rgs12 T A 5: 35,177,700 (GRCm39) W97R probably damaging Het
Rnf10 T A 5: 115,386,762 (GRCm39) Q508L probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec24b A T 3: 129,834,413 (GRCm39) S126T possibly damaging Het
Slc6a5 A G 7: 49,561,768 (GRCm39) N100S probably benign Het
Speer1j T C 5: 11,553,798 (GRCm39) S7P probably benign Het
Stam2 A T 2: 52,605,716 (GRCm39) D167E probably benign Het
Stambp G A 6: 83,538,960 (GRCm39) Q147* probably null Het
Tbc1d32 A G 10: 56,047,000 (GRCm39) V556A possibly damaging Het
Tll2 T C 19: 41,087,075 (GRCm39) D592G probably benign Het
Tmem199 A T 11: 78,400,508 (GRCm39) probably benign Het
Traip T A 9: 107,847,218 (GRCm39) N352K probably benign Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Usp54 C A 14: 20,600,406 (GRCm39) A1444S probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Xdh G A 17: 74,225,389 (GRCm39) T471I probably damaging Het
Zdhhc19 A G 16: 32,316,494 (GRCm39) D83G probably damaging Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R probably benign Het
Zfp451 A G 1: 33,841,752 (GRCm39) probably benign Het
Zfp963 A T 8: 70,195,944 (GRCm39) S170T probably benign Het
Zfp970 A G 2: 177,167,961 (GRCm39) I512V probably benign Het
Zfp990 A G 4: 145,263,616 (GRCm39) I205V possibly 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
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
Predicted Primers PCR Primer
(F):5'- CAAAGCTGCCTTCATGTTGAATG -3'
(R):5'- ACTGTCATCAAGAGACCACG -3'

Sequencing Primer
(F):5'- GCCTTCATGTTGAATGCAGAACTG -3'
(R):5'- GACCACGTCGAAAGTTGTTC -3'
Posted On 2015-10-08