Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01721:Egf'

105095

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 #

IGL01721

Quality Score

Status

Chromosome

Chromosomal Location

129471223-129548971 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 129491371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 374 (C374*)

Ref Sequence

ENSEMBL: ENSMUSP00000142497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029653] [ENSMUST00000197079] [ENSMUST00000197713] [ENSMUST00000199615]

AlphaFold

P01132

Predicted Effect

probably null
Transcript: ENSMUST00000029653
AA Change: C875*

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: C875*

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 null
Transcript: ENSMUST00000197079
AA Change: C374*

SMART Domains

Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: C374*

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

probably benign
Transcript: ENSMUST00000197713

SMART Domains

Protein: ENSMUSP00000143108
Gene: ENSMUSG00000028017

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199272

Predicted Effect

probably null
Transcript: ENSMUST00000199615
AA Change: C374*

SMART Domains

Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: C374*

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,023,453 (GRCm39)	M51V	possibly damaging	Het
Acad8	A	G	9: 26,903,563 (GRCm39)		probably benign	Het
Atp2a2	A	G	5: 122,638,855 (GRCm39)	V53A	possibly damaging	Het
Bicra	T	C	7: 15,722,624 (GRCm39)	T298A	probably benign	Het
Ccdc185	C	T	1: 182,576,543 (GRCm39)	E49K	possibly damaging	Het
Cfhr2	A	G	1: 139,741,352 (GRCm39)	S208P	probably benign	Het
Chd1	T	C	17: 15,990,430 (GRCm39)	Y1661H	probably damaging	Het
Cntnap5a	A	G	1: 116,085,367 (GRCm39)	H435R	probably benign	Het
Cog8	A	G	8: 107,780,697 (GRCm39)	V187A	probably benign	Het
Col24a1	A	G	3: 145,244,322 (GRCm39)	H1532R	probably benign	Het
Dpp6	A	G	5: 27,836,518 (GRCm39)	Y336C	probably damaging	Het
Drosha	T	A	15: 12,846,198 (GRCm39)	Y444*	probably null	Het
Eif2b3	C	T	4: 116,916,001 (GRCm39)	H203Y	probably damaging	Het
Erbb4	A	G	1: 68,293,722 (GRCm39)	V723A	possibly damaging	Het
Fbxo21	T	C	5: 118,126,855 (GRCm39)	I202T	probably benign	Het
Gbp6	T	C	5: 105,422,073 (GRCm39)	M544V	probably benign	Het
Gm10750	T	C	2: 148,857,964 (GRCm39)	T96A	unknown	Het
Gm8232	A	T	14: 44,674,640 (GRCm39)		probably null	Het
Gpi-ps	A	T	8: 5,689,896 (GRCm39)		noncoding transcript	Het
Gsdma3	T	C	11: 98,528,782 (GRCm39)	V412A	possibly damaging	Het
Hs6st1	A	T	1: 36,108,016 (GRCm39)	H93L	probably damaging	Het
Hsf2	G	A	10: 57,372,277 (GRCm39)	E77K	probably benign	Het
Ing3	T	A	6: 21,968,879 (GRCm39)		probably benign	Het
Ints6	T	C	14: 62,951,188 (GRCm39)	I280M	probably damaging	Het
Kazn	C	A	4: 141,886,354 (GRCm39)		probably null	Het
Klhl20	T	C	1: 160,923,157 (GRCm39)	Y13C	probably damaging	Het
Krtap26-1	G	A	16: 88,444,060 (GRCm39)	P187L	probably damaging	Het
Mga	T	A	2: 119,765,720 (GRCm39)	I1329K	probably damaging	Het
Mindy4	A	G	6: 55,200,984 (GRCm39)	D223G	probably damaging	Het
Ncor2	T	C	5: 125,128,001 (GRCm39)	E124G	probably damaging	Het
Nfat5	G	A	8: 108,071,611 (GRCm39)		probably null	Het
Nkain1	A	G	4: 130,532,134 (GRCm38)	F184L	probably benign	Het
Or8k25	T	C	2: 86,243,677 (GRCm39)	T240A	probably damaging	Het
Rars1	A	T	11: 35,719,491 (GRCm39)	F110L	probably damaging	Het
Rfx6	A	C	10: 51,599,173 (GRCm39)	K509N	probably damaging	Het
Serpinb2	T	C	1: 107,443,333 (GRCm39)	L44P	probably damaging	Het
Sin3a	G	A	9: 57,002,609 (GRCm39)	R167Q	probably damaging	Het
Sos2	T	A	12: 69,650,641 (GRCm39)	T809S	probably damaging	Het
Stard9	A	G	2: 120,533,811 (GRCm39)	E3356G	probably damaging	Het
Vmn1r52	A	G	6: 90,155,905 (GRCm39)	T70A	probably benign	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
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
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

2014-01-21