Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01367:Egf'

76001

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 #

IGL01367

Quality Score

Status

Chromosome

Chromosomal Location

129471223-129548971 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 129496104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017

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

SMART Domains

Protein: ENSMUSP00000143075
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
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

probably null
Transcript: ENSMUST00000199615

SMART Domains

Protein: ENSMUSP00000142497
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
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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	A	G	11: 30,404,843 (GRCm39)	V20A	possibly damaging	Het
Alk	T	C	17: 72,207,781 (GRCm39)	I985V	probably damaging	Het
Anapc2	A	C	2: 25,164,794 (GRCm39)	R59S	possibly damaging	Het
Ankhd1	T	A	18: 36,711,696 (GRCm39)	D165E	probably benign	Het
Asb8	A	T	15: 98,034,054 (GRCm39)	V167D	probably damaging	Het
Atp5pf	A	G	16: 84,625,360 (GRCm39)	M81T	probably benign	Het
Bcl7b	A	G	5: 135,208,950 (GRCm39)	T138A	probably damaging	Het
Cdh23	A	G	10: 60,146,566 (GRCm39)	L2869P	probably damaging	Het
Chl1	T	C	6: 103,706,186 (GRCm39)	S1174P	probably benign	Het
Clec2g	T	C	6: 128,925,699 (GRCm39)	I36T	unknown	Het
Denr	A	G	5: 124,046,182 (GRCm39)	D4G	probably benign	Het
Dnajc10	T	C	2: 80,155,096 (GRCm39)		probably benign	Het
Galnt10	A	C	11: 57,616,409 (GRCm39)	Y108S	probably damaging	Het
Gls	C	T	1: 52,207,558 (GRCm39)	G602D	probably damaging	Het
Grb10	G	T	11: 11,895,599 (GRCm39)	Q242K	probably damaging	Het
Hspg2	A	T	4: 137,265,800 (GRCm39)	Y1837F	probably damaging	Het
Ikzf1	G	T	11: 11,698,358 (GRCm39)	A70S	probably benign	Het
Il17ra	T	C	6: 120,458,426 (GRCm39)	Y526H	probably damaging	Het
Il34	A	T	8: 111,469,375 (GRCm39)	I186N	possibly damaging	Het
Iqca1	G	A	1: 89,998,350 (GRCm39)		probably benign	Het
Kntc1	A	G	5: 123,896,546 (GRCm39)	Y136C	probably damaging	Het
Man2b2	A	T	5: 36,971,681 (GRCm39)	Y257*	probably null	Het
Map3k19	A	G	1: 127,752,088 (GRCm39)	F421S	possibly damaging	Het
Melk	A	G	4: 44,332,907 (GRCm39)	T288A	possibly damaging	Het
Mpp2	T	C	11: 101,954,135 (GRCm39)	E187G	probably damaging	Het
Mtf2	A	G	5: 108,252,323 (GRCm39)	T394A	probably benign	Het
Neil2	A	G	14: 63,429,177 (GRCm39)	S39P	probably damaging	Het
Or4e5	T	A	14: 52,727,624 (GRCm39)	I266F	probably benign	Het
Pcdh7	A	G	5: 58,286,566 (GRCm39)	E1214G	possibly damaging	Het
Pcdhb17	G	T	18: 37,620,548 (GRCm39)	Q779H	probably benign	Het
Pik3c2b	A	G	1: 133,033,726 (GRCm39)	I1577V	probably benign	Het
Pkp3	C	T	7: 140,663,989 (GRCm39)	P389S	probably damaging	Het
Ppp4r2	T	A	6: 100,841,706 (GRCm39)	Y92*	probably null	Het
Rnf13	T	C	3: 57,714,508 (GRCm39)	I189T	probably benign	Het
Serpinf2	T	C	11: 75,328,871 (GRCm39)	D53G	probably benign	Het
Slc47a2	T	A	11: 61,220,607 (GRCm39)	T184S	probably benign	Het
Sned1	T	C	1: 93,210,936 (GRCm39)	I1008T	probably benign	Het
Sorcs3	A	T	19: 48,784,814 (GRCm39)	E1079V	probably damaging	Het
Trappc8	G	A	18: 20,999,176 (GRCm39)	S318L	probably benign	Het
Trappc9	A	G	15: 72,462,002 (GRCm39)	S909P	probably benign	Het
Ttn	G	A	2: 76,560,483 (GRCm39)	T29306I	probably damaging	Het
Twnk	G	A	19: 45,000,090 (GRCm39)	R602Q	possibly damaging	Het
Vmn2r15	A	T	5: 109,441,075 (GRCm39)	I261K	probably damaging	Het
Vmn2r77	G	A	7: 86,461,124 (GRCm39)	A817T	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
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
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

2013-10-07