Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02141:Egf'

281552

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 #

IGL02141

Quality Score

Status

Chromosome

Chromosomal Location

129677565-129755316 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 129739982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 70 (G70*)

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 null
Transcript: ENSMUST00000029653
AA Change: G70*

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: G70*

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

noncoding transcript
Transcript: ENSMUST00000198093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198992

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	C	T	5: 146,183,465 (GRCm38)	A188T	probably benign	Het
2310022B05Rik	A	T	8: 124,637,906 (GRCm38)		probably benign	Het
4931423N10Rik	T	C	2: 23,230,200 (GRCm38)	F203L	probably damaging	Het
Atf6b	C	A	17: 34,653,277 (GRCm38)	H539Q	probably benign	Het
Bmal2	T	A	6: 146,828,095 (GRCm38)		probably benign	Het
Bpifb5	G	T	2: 154,229,557 (GRCm38)		probably null	Het
Cep89	T	A	7: 35,420,924 (GRCm38)	M377K	probably damaging	Het
Clpx	G	T	9: 65,312,118 (GRCm38)		probably null	Het
Cops5	T	C	1: 10,035,117 (GRCm38)	K47E	probably damaging	Het
Cryba2	T	C	1: 74,892,784 (GRCm38)	N35S	probably benign	Het
Ddx27	A	G	2: 167,020,523 (GRCm38)	K162E	possibly damaging	Het
Dhx36	A	G	3: 62,493,889 (GRCm38)	S319P	probably benign	Het
Dram2	A	G	3: 106,571,696 (GRCm38)		probably benign	Het
Eci2	T	A	13: 34,978,673 (GRCm38)	T300S	probably benign	Het
Eif5b	T	C	1: 38,032,322 (GRCm38)	V444A	probably benign	Het
Elf3	T	C	1: 135,257,707 (GRCm38)	D23G	possibly damaging	Het
Epb41l4b	A	T	4: 57,103,422 (GRCm38)		probably null	Het
Fam167a	T	A	14: 63,452,259 (GRCm38)	S2T	probably benign	Het
Flrt3	A	G	2: 140,660,688 (GRCm38)	V340A	probably damaging	Het
Gimap3	T	C	6: 48,765,378 (GRCm38)	E206G	probably benign	Het
Gp6	T	C	7: 4,394,104 (GRCm38)		probably benign	Het
Gpr158	A	T	2: 21,783,290 (GRCm38)	M581L	probably damaging	Het
Hapln3	A	G	7: 79,118,145 (GRCm38)	V167A	probably damaging	Het
Hnrnpll	G	A	17: 80,050,713 (GRCm38)	T203I	probably benign	Het
Ighv3-6	A	G	12: 114,288,362 (GRCm38)	I47T	probably damaging	Het
Iqgap1	G	A	7: 80,738,121 (GRCm38)	T926M	probably damaging	Het
Lonp1	A	T	17: 56,615,086 (GRCm38)	S765T	probably benign	Het
Lpp	C	T	16: 24,761,615 (GRCm38)	S27F	probably damaging	Het
Lrit2	T	C	14: 37,068,074 (GRCm38)		probably benign	Het
Luc7l	C	A	17: 26,253,080 (GRCm38)	T17K	probably damaging	Het
Mmut	A	G	17: 40,938,817 (GRCm38)	T228A	possibly damaging	Het
Mroh1	G	T	15: 76,446,599 (GRCm38)	S1161I	possibly damaging	Het
Muc5b	T	G	7: 141,853,367 (GRCm38)	C1091G	unknown	Het
Nppb	A	T	4: 147,986,006 (GRCm38)	I11F	probably benign	Het
Nsf	A	T	11: 103,828,525 (GRCm38)	D650E	probably benign	Het
Ogdh	A	G	11: 6,355,015 (GRCm38)	K907E	probably damaging	Het
Or1b1	G	A	2: 37,105,425 (GRCm38)	S75F	probably benign	Het
Or1j15	A	G	2: 36,568,808 (GRCm38)	D70G	probably damaging	Het
Or7a35	A	G	10: 79,017,721 (GRCm38)	Y133C	probably damaging	Het
Pcnx1	A	T	12: 81,860,382 (GRCm38)	Q4L	possibly damaging	Het
Pgc	T	A	17: 47,726,931 (GRCm38)	L9H	probably damaging	Het
Pikfyve	T	A	1: 65,246,397 (GRCm38)	S887T	probably benign	Het
Plec	T	C	15: 76,175,615 (GRCm38)	D3239G	probably damaging	Het
Pole4	T	C	6: 82,648,034 (GRCm38)	T116A	probably benign	Het
Prpf8	A	G	11: 75,490,672 (GRCm38)	N300D	possibly damaging	Het
Rara	T	A	11: 98,968,081 (GRCm38)	Y119N	probably damaging	Het
Rbck1	G	T	2: 152,318,374 (GRCm38)	R462S	possibly damaging	Het
Setdb2	C	T	14: 59,402,315 (GRCm38)	R709Q	probably damaging	Het
Slfn2	C	A	11: 83,069,844 (GRCm38)	N216K	probably benign	Het
Suox	A	G	10: 128,672,098 (GRCm38)		probably benign	Het
Tars1	T	A	15: 11,391,194 (GRCm38)	Y283F	probably damaging	Het
Trpm4	A	T	7: 45,318,179 (GRCm38)		probably null	Het
Ubtd2	A	T	11: 32,499,262 (GRCm38)	K36N	probably benign	Het
Unkl	T	C	17: 25,229,434 (GRCm38)	L327P	probably damaging	Het
Vmn1r11	T	A	6: 57,137,379 (GRCm38)	Y9*	probably null	Het
Vps13b	T	C	15: 35,572,081 (GRCm38)	V948A	probably benign	Het
Zbtb17	A	G	4: 141,464,953 (GRCm38)	H403R	probably damaging	Het

Other mutations in Egf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Egf	APN	3	129,711,449 (GRCm38)	missense	probably benign	0.01
IGL00579:Egf	APN	3	129,697,798 (GRCm38)	missense	probably benign	0.36
IGL01307:Egf	APN	3	129,739,993 (GRCm38)	missense	probably damaging	0.99
IGL01314:Egf	APN	3	129,686,260 (GRCm38)	missense	probably benign	0.16
IGL01360:Egf	APN	3	129,740,020 (GRCm38)	missense	probably damaging	1.00
IGL01367:Egf	APN	3	129,702,455 (GRCm38)	critical splice donor site	probably null
IGL01610:Egf	APN	3	129,706,260 (GRCm38)	splice site	probably benign
IGL01721:Egf	APN	3	129,697,722 (GRCm38)	nonsense	probably null
IGL01803:Egf	APN	3	129,736,766 (GRCm38)	missense	probably benign	0.09
IGL01866:Egf	APN	3	129,735,880 (GRCm38)	missense	probably benign	0.03
IGL02001:Egf	APN	3	129,716,768 (GRCm38)	missense	probably damaging	1.00
IGL02209:Egf	APN	3	129,707,307 (GRCm38)	missense	possibly damaging	0.93
IGL02347:Egf	APN	3	129,678,377 (GRCm38)	missense	probably benign	0.17
IGL02821:Egf	APN	3	129,702,479 (GRCm38)	missense	probably damaging	1.00
IGL02902:Egf	APN	3	129,681,147 (GRCm38)	missense	probably benign	0.34
IGL03114:Egf	APN	3	129,736,880 (GRCm38)	missense	probably damaging	0.98
PIT4151001:Egf	UTSW	3	129,702,549 (GRCm38)	missense	probably benign	0.00
R0200:Egf	UTSW	3	129,737,549 (GRCm38)	missense	probably damaging	1.00
R0200:Egf	UTSW	3	129,706,233 (GRCm38)	missense	probably benign	0.00
R0463:Egf	UTSW	3	129,737,549 (GRCm38)	missense	probably damaging	1.00
R0463:Egf	UTSW	3	129,706,233 (GRCm38)	missense	probably benign	0.00
R0507:Egf	UTSW	3	129,681,179 (GRCm38)	missense	possibly damaging	0.62
R0801:Egf	UTSW	3	129,702,585 (GRCm38)	splice site	probably benign
R1495:Egf	UTSW	3	129,713,006 (GRCm38)	missense	probably damaging	1.00
R1535:Egf	UTSW	3	129,690,778 (GRCm38)	missense	probably benign	0.00
R1626:Egf	UTSW	3	129,686,215 (GRCm38)	missense	possibly damaging	0.55
R1702:Egf	UTSW	3	129,690,811 (GRCm38)	missense	probably benign	0.17
R1906:Egf	UTSW	3	129,725,224 (GRCm38)	missense	probably benign	0.01
R2184:Egf	UTSW	3	129,723,358 (GRCm38)	nonsense	probably null
R3842:Egf	UTSW	3	129,697,793 (GRCm38)	nonsense	probably null
R3918:Egf	UTSW	3	129,696,860 (GRCm38)	missense	probably null	0.22
R4073:Egf	UTSW	3	129,735,969 (GRCm38)	missense	probably benign	0.01
R4074:Egf	UTSW	3	129,735,969 (GRCm38)	missense	probably benign	0.01
R4075:Egf	UTSW	3	129,735,969 (GRCm38)	missense	probably benign	0.01
R4307:Egf	UTSW	3	129,719,095 (GRCm38)	missense	probably damaging	0.99
R4321:Egf	UTSW	3	129,706,134 (GRCm38)	missense	probably damaging	1.00
R4617:Egf	UTSW	3	129,690,793 (GRCm38)	missense	probably benign	0.02
R4646:Egf	UTSW	3	129,720,276 (GRCm38)	missense	probably damaging	1.00
R4674:Egf	UTSW	3	129,718,040 (GRCm38)	missense	probably damaging	1.00
R4798:Egf	UTSW	3	129,716,678 (GRCm38)	missense	probably damaging	1.00
R4931:Egf	UTSW	3	129,711,468 (GRCm38)	missense	probably damaging	1.00
R4992:Egf	UTSW	3	129,711,530 (GRCm38)	splice site	probably null
R5166:Egf	UTSW	3	129,735,840 (GRCm38)	missense	probably benign
R5179:Egf	UTSW	3	129,686,287 (GRCm38)	missense	probably damaging	0.99
R5230:Egf	UTSW	3	129,718,024 (GRCm38)	missense	possibly damaging	0.95
R6043:Egf	UTSW	3	129,736,785 (GRCm38)	missense	probably benign	0.09
R6119:Egf	UTSW	3	129,736,772 (GRCm38)	missense	probably benign	0.00
R6493:Egf	UTSW	3	129,719,088 (GRCm38)	start gained	probably benign
R6639:Egf	UTSW	3	129,736,832 (GRCm38)	missense	probably benign	0.22
R6936:Egf	UTSW	3	129,681,204 (GRCm38)	missense	possibly damaging	0.95
R7019:Egf	UTSW	3	129,718,064 (GRCm38)	splice site	probably null
R7046:Egf	UTSW	3	129,754,958 (GRCm38)	missense	unknown
R7463:Egf	UTSW	3	129,740,015 (GRCm38)	missense	probably benign	0.39
R7472:Egf	UTSW	3	129,686,263 (GRCm38)	missense	possibly damaging	0.53
R7723:Egf	UTSW	3	129,706,137 (GRCm38)	missense	probably benign	0.00
R7920:Egf	UTSW	3	129,735,840 (GRCm38)	missense	probably benign
R7952:Egf	UTSW	3	129,739,996 (GRCm38)	missense	probably damaging	1.00
R8098:Egf	UTSW	3	129,690,837 (GRCm38)	missense	probably benign	0.09
R8344:Egf	UTSW	3	129,754,943 (GRCm38)	missense	unknown
R8557:Egf	UTSW	3	129,754,951 (GRCm38)	missense	unknown
R8912:Egf	UTSW	3	129,737,515 (GRCm38)	missense	possibly damaging	0.47
R9091:Egf	UTSW	3	129,735,800 (GRCm38)	critical splice donor site	probably null
R9159:Egf	UTSW	3	129,678,377 (GRCm38)	missense	probably benign	0.17
R9270:Egf	UTSW	3	129,735,800 (GRCm38)	critical splice donor site	probably null
R9526:Egf	UTSW	3	129,697,772 (GRCm38)	missense	probably benign
R9544:Egf	UTSW	3	129,717,968 (GRCm38)	missense	probably benign	0.16
R9588:Egf	UTSW	3	129,717,968 (GRCm38)	missense	probably benign	0.16
R9630:Egf	UTSW	3	129,725,195 (GRCm38)	missense	possibly damaging	0.76
R9639:Egf	UTSW	3	129,720,300 (GRCm38)	missense	possibly damaging	0.93
R9751:Egf	UTSW	3	129,754,889 (GRCm38)	missense	probably damaging	0.99
R9772:Egf	UTSW	3	129,706,107 (GRCm38)	missense	probably benign	0.01
R9776:Egf	UTSW	3	129,736,865 (GRCm38)	missense	probably damaging	0.99
X0011:Egf	UTSW	3	129,711,298 (GRCm38)	missense	probably benign	0.19
Z1176:Egf	UTSW	3	129,697,717 (GRCm38)	critical splice donor site	probably null

Posted On

2015-04-16