Mutagenetix > Incidental Mutation

Incidental Mutation 'R7952:Egf'

649605

Institutional Source

Beutler Lab

Gene Symbol

Egf

Ensembl Gene

ENSMUSG00000028017

Gene Name

epidermal growth factor

Synonyms

MMRRC Submission

045996-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7952 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129471223-129548971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129533645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 65 (R65Q)

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 damaging
Transcript: ENSMUST00000029653
AA Change: R65Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: R65Q

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (47/48)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,579,903 (GRCm39)	S516P	possibly damaging	Het
Adora1	A	G	1: 134,131,024 (GRCm39)	S216P	possibly damaging	Het
Arhgap17	G	T	7: 122,885,914 (GRCm39)	S739R	probably benign	Het
Bphl	A	G	13: 34,230,780 (GRCm39)	T75A	probably benign	Het
Ccdc73	G	A	2: 104,775,801 (GRCm39)		probably null	Het
Cela3b	T	C	4: 137,149,219 (GRCm39)	I262V	probably benign	Het
Chpf	T	C	1: 75,455,586 (GRCm39)	N55S	probably benign	Het
Chst8	A	G	7: 34,374,919 (GRCm39)	Y307H	probably damaging	Het
Cmtm2b	G	T	8: 105,057,203 (GRCm39)	E188*	probably null	Het
Cmya5	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG	13: 93,233,512 (GRCm39)		probably benign	Het
Cxadr	C	T	16: 78,131,123 (GRCm39)	T213M	possibly damaging	Het
D3Ertd751e	T	A	3: 41,703,096 (GRCm39)		probably null	Het
Dhx32	T	C	7: 133,350,725 (GRCm39)	Y115C	probably benign	Het
Dop1b	C	A	16: 93,546,848 (GRCm39)	T284K	possibly damaging	Het
Dync2h1	A	G	9: 7,129,802 (GRCm39)	V1732A	possibly damaging	Het
Fat4	T	G	3: 38,945,870 (GRCm39)	S1588A	probably damaging	Het
Fmnl3	A	G	15: 99,220,518 (GRCm39)	V588A	probably damaging	Het
Galnt3	C	T	2: 65,928,186 (GRCm39)	E237K	probably benign	Het
Grik2	T	C	10: 49,298,633 (GRCm39)	I363V	probably benign	Het
Grik3	C	T	4: 125,598,340 (GRCm39)	T769I	probably damaging	Het
Hpd	A	T	5: 123,316,327 (GRCm39)	D141E	possibly damaging	Het
Hrc	A	T	7: 44,985,692 (GRCm39)	D281V	probably damaging	Het
Igfn1	A	T	1: 135,891,693 (GRCm39)	I2274K	probably damaging	Het
Iqgap3	A	G	3: 88,005,677 (GRCm39)	I502V	probably benign	Het
Kcnh8	A	T	17: 53,266,493 (GRCm39)	Q835L	probably benign	Het
Kmt2d	C	T	15: 98,748,649 (GRCm39)	G2892R	unknown	Het
Lama4	T	G	10: 38,906,486 (GRCm39)	I284S	probably benign	Het
Madd	C	A	2: 90,992,886 (GRCm39)	G1011V	probably damaging	Het
Mroh2b	T	C	15: 4,980,693 (GRCm39)	F1421L	probably damaging	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nedd9	C	A	13: 41,470,431 (GRCm39)	D241Y	probably damaging	Het
Notch2	T	C	3: 98,007,552 (GRCm39)	V434A	probably benign	Het
Ofcc1	C	T	13: 40,433,781 (GRCm39)	R108Q	probably benign	Het
Or10al2	T	C	17: 37,983,708 (GRCm39)	Y265H	probably damaging	Het
Or51g1	A	G	7: 102,633,721 (GRCm39)	F217L	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pramel41	T	C	5: 94,594,902 (GRCm39)	V254A	probably benign	Het
Prss55	A	G	14: 64,313,132 (GRCm39)	Y251H	probably damaging	Het
Rec8	T	C	14: 55,862,760 (GRCm39)	V573A	possibly damaging	Het
Ryr2	T	C	13: 11,661,313 (GRCm39)		probably null	Het
Sec31b	A	G	19: 44,508,979 (GRCm39)	S667P	probably benign	Het
Smim17	A	G	7: 6,427,849 (GRCm39)	D45G	possibly damaging	Het
Sspo	A	G	6: 48,464,263 (GRCm39)	T3906A	probably damaging	Het
Tanc2	G	T	11: 105,787,423 (GRCm39)	G908W	probably damaging	Het
Tcf7l2	A	T	19: 55,886,989 (GRCm39)	M1L	probably benign	Het
Tpx2	C	T	2: 152,735,514 (GRCm39)	A714V	probably damaging	Het
Trgc4	T	A	13: 19,533,740 (GRCm39)	S121R		Het
Trmt1	G	A	8: 85,415,969 (GRCm39)	R9H	possibly damaging	Het
Unc13a	A	T	8: 72,111,131 (GRCm39)	V360E	possibly damaging	Het
Vmn1r225	T	A	17: 20,722,589 (GRCm39)	I10N	probably damaging	Het
Xkr4	A	G	1: 3,740,842 (GRCm39)	S244P	possibly damaging	Het
Zkscan14	G	T	5: 145,132,708 (GRCm39)	H274Q	probably damaging	Het

Other mutations in Egf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7723:Egf	UTSW	3	129,499,786 (GRCm39)	missense	probably benign	0.00
R7920:Egf	UTSW	3	129,529,489 (GRCm39)	missense	probably benign
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'- GTACGCCACATTTGTCAGAATTTG -3'
(R):5'- GGCAGGAGTCCCTTATTCTGTAC -3'

Sequencing Primer
(F):5'- ATTCTTCACATACCATGGGGG -3'
(R):5'- GGGAAGTATTTTATGTGGAAC -3'

Posted On

2020-09-15