Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02347:Egf'

289327

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 #

IGL02347

Quality Score

Status

Chromosome

Chromosomal Location

129471223-129548971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129472026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1199 (N1199K)

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: N1199K

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: N1199K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197079
AA Change: N698K

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: N698K

Domain	Start	End	E-Value	Type
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: N657K

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: N657K

Domain	Start	End	E-Value	Type
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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,452,835 (GRCm39)	K35*	probably null	Het
Adad2	G	T	8: 120,343,408 (GRCm39)	G546V	probably damaging	Het
Bccip	A	G	7: 133,311,105 (GRCm39)	K7E	probably benign	Het
C8b	G	A	4: 104,644,151 (GRCm39)	E273K	probably benign	Het
Car12	T	A	9: 66,671,629 (GRCm39)	V352D	possibly damaging	Het
Cyp2d11	G	A	15: 82,274,681 (GRCm39)	R299C	probably benign	Het
Dnah10	A	C	5: 124,910,487 (GRCm39)		probably null	Het
Eddm13	A	G	7: 6,272,883 (GRCm39)	I79M	possibly damaging	Het
Ehbp1l1	A	G	19: 5,769,600 (GRCm39)	W568R	possibly damaging	Het
Eif1ad14	T	C	12: 87,886,359 (GRCm39)	D90G	probably damaging	Het
Emc3	A	G	6: 113,497,533 (GRCm39)	M106T	possibly damaging	Het
Fam13b	T	C	18: 34,587,757 (GRCm39)	K514E	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Frg2f1	A	C	4: 119,387,929 (GRCm39)	L190R	probably damaging	Het
Frmpd1	A	G	4: 45,270,023 (GRCm39)		probably null	Het
Glis3	A	G	19: 28,509,283 (GRCm39)	F234L	probably benign	Het
Grap2	T	C	15: 80,530,557 (GRCm39)		probably benign	Het
H2-M10.2	T	A	17: 36,596,505 (GRCm39)	E113D	probably benign	Het
Itgb6	T	C	2: 60,441,756 (GRCm39)	T685A	probably benign	Het
Mrpl19	A	T	6: 81,938,992 (GRCm39)	M270K	probably damaging	Het
Msantd4	G	T	9: 4,384,734 (GRCm39)		probably benign	Het
Msr1	G	T	8: 40,085,778 (GRCm39)	T34K	probably damaging	Het
Npc1	C	T	18: 12,332,691 (GRCm39)	V780M	probably benign	Het
Nsun6	A	G	2: 15,034,831 (GRCm39)		probably benign	Het
Nt5c2	A	G	19: 46,912,695 (GRCm39)		probably benign	Het
Nucb2	A	C	7: 116,135,113 (GRCm39)	Q340P	probably benign	Het
Nup50l	A	T	6: 96,142,511 (GRCm39)	Y178N	probably damaging	Het
Or2l13b	A	G	16: 19,349,529 (GRCm39)	L47P	probably damaging	Het
Or3a1b	C	T	11: 74,012,397 (GRCm39)	T94I	probably benign	Het
Osgin1	A	G	8: 120,172,277 (GRCm39)	E357G	probably benign	Het
Pabpc6	C	T	17: 9,887,993 (GRCm39)	R186K	probably benign	Het
Pex1	A	G	5: 3,653,350 (GRCm39)	K83R	probably damaging	Het
Ppid	A	G	3: 79,502,526 (GRCm39)	I82V	probably benign	Het
Pygl	C	T	12: 70,248,666 (GRCm39)	G318S	probably benign	Het
Rcn1	A	T	2: 105,229,471 (GRCm39)	V27E	probably benign	Het
Rnaseh1	A	T	12: 28,707,629 (GRCm39)		probably benign	Het
Rnf148	A	G	6: 23,654,729 (GRCm39)	V89A	probably benign	Het
Siglecf	G	A	7: 43,001,145 (GRCm39)	V38I	possibly damaging	Het
Slc13a5	T	C	11: 72,149,780 (GRCm39)		probably null	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Sos2	A	T	12: 69,643,520 (GRCm39)	D953E	probably benign	Het
Strbp	A	C	2: 37,535,660 (GRCm39)	V16G	probably benign	Het
Sycp1	A	T	3: 102,800,863 (GRCm39)	M567K	probably benign	Het
Tedc2	A	C	17: 24,439,584 (GRCm39)	V19G	probably damaging	Het
Tjp1	A	G	7: 64,950,812 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,539,564 (GRCm39)	V26147E	probably damaging	Het
Vmn1r86	A	G	7: 12,836,574 (GRCm39)	S51P	probably damaging	Het
Vmn2r83	A	G	10: 79,316,067 (GRCm39)	T488A	possibly damaging	Het
Zfp541	A	G	7: 15,817,390 (GRCm39)	Y945C	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
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
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

2015-04-16