Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01314:Egf'

73802

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 #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

129677565-129755316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129686260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 497 (I497T)

Ref Sequence

ENSEMBL: ENSMUSP00000142497 (fasta)

Gene Model

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

AlphaFold

P01132

Predicted Effect

probably benign
Transcript: ENSMUST00000029653
AA Change: I1039T

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: I1039T

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: ENSMUST00000174960

Predicted Effect

probably benign
Transcript: ENSMUST00000197079
AA Change: I538T

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: I538T

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

noncoding transcript
Transcript: ENSMUST00000199209

Predicted Effect

probably benign
Transcript: ENSMUST00000199615
AA Change: I497T

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: I497T

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	A	C	10: 100,573,611	D313E	probably damaging	Het
Adamts12	C	T	15: 11,071,853	A161V	probably benign	Het
Bptf	A	T	11: 107,054,853	V2520E	probably damaging	Het
C87436	T	C	6: 86,457,855	F395S	probably damaging	Het
Capn1	T	C	19: 5,989,984		probably benign	Het
Ceacam5	T	A	7: 17,747,256	Y309*	probably null	Het
Clasp2	A	G	9: 113,906,127	D1011G	possibly damaging	Het
Csmd3	A	G	15: 47,849,755	Y1608H	probably damaging	Het
Dcaf1	T	C	9: 106,834,191	I77T	probably benign	Het
Dcdc2a	T	C	13: 25,102,604	L170P	probably damaging	Het
Ddx28	A	G	8: 106,010,580	F282S	probably damaging	Het
Emsy	A	G	7: 98,593,455	V1159A	probably benign	Het
Fam46c	T	C	3: 100,473,174	K89E	probably benign	Het
Hk3	C	A	13: 55,007,063		probably benign	Het
Htt	A	G	5: 34,878,856	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,683,750	S45*	probably null	Het
Irf8	A	G	8: 120,753,380	Y119C	probably damaging	Het
Klk1b4	T	C	7: 44,211,176		probably null	Het
Macf1	A	G	4: 123,486,720	S1273P	probably damaging	Het
Man2c1	A	T	9: 57,141,819	H867L	probably benign	Het
Mgat4e	T	C	1: 134,541,449	T286A	probably damaging	Het
Mug2	T	C	6: 122,081,279	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079	E128D	probably damaging	Het
Olfr1331	G	A	4: 118,869,131	V117I	probably benign	Het
Pds5a	A	G	5: 65,615,294	V1322A	probably benign	Het
Poc1b	C	T	10: 99,129,641	T144I	probably damaging	Het
Prcc	T	A	3: 87,870,080	N196Y	probably damaging	Het
Psma5	G	A	3: 108,279,795	V237M	possibly damaging	Het
Rap1gds1	A	G	3: 139,050,561	L11P	probably damaging	Het
Rapgef3	A	G	15: 97,748,223	F132S	probably damaging	Het
Rgs13	T	G	1: 144,171,441	D14A	probably benign	Het
Stxbp4	A	G	11: 90,621,649		probably benign	Het
Tcerg1	C	A	18: 42,573,309	A1017D	probably damaging	Het
Tmem79	T	C	3: 88,332,576	I276V	possibly damaging	Het
Tmem94	C	A	11: 115,790,009	H113N	probably damaging	Het
Vil1	G	A	1: 74,428,238	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,582,964	T187A	probably benign	Het
Zfhx4	T	A	3: 5,413,094	S3590T	probably damaging	Het

Other mutations in Egf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Egf	APN	3	129711449	missense	probably benign	0.01
IGL00579:Egf	APN	3	129697798	missense	probably benign	0.36
IGL01307:Egf	APN	3	129739993	missense	probably damaging	0.99
IGL01360:Egf	APN	3	129740020	missense	probably damaging	1.00
IGL01367:Egf	APN	3	129702455	critical splice donor site	probably null
IGL01610:Egf	APN	3	129706260	splice site	probably benign
IGL01721:Egf	APN	3	129697722	nonsense	probably null
IGL01803:Egf	APN	3	129736766	missense	probably benign	0.09
IGL01866:Egf	APN	3	129735880	missense	probably benign	0.03
IGL02001:Egf	APN	3	129716768	missense	probably damaging	1.00
IGL02141:Egf	APN	3	129739982	nonsense	probably null
IGL02209:Egf	APN	3	129707307	missense	possibly damaging	0.93
IGL02347:Egf	APN	3	129678377	missense	probably benign	0.17
IGL02821:Egf	APN	3	129702479	missense	probably damaging	1.00
IGL02902:Egf	APN	3	129681147	missense	probably benign	0.34
IGL03114:Egf	APN	3	129736880	missense	probably damaging	0.98
PIT4151001:Egf	UTSW	3	129702549	missense	probably benign	0.00
R0200:Egf	UTSW	3	129706233	missense	probably benign	0.00
R0200:Egf	UTSW	3	129737549	missense	probably damaging	1.00
R0463:Egf	UTSW	3	129706233	missense	probably benign	0.00
R0463:Egf	UTSW	3	129737549	missense	probably damaging	1.00
R0507:Egf	UTSW	3	129681179	missense	possibly damaging	0.62
R0801:Egf	UTSW	3	129702585	splice site	probably benign
R1495:Egf	UTSW	3	129713006	missense	probably damaging	1.00
R1535:Egf	UTSW	3	129690778	missense	probably benign	0.00
R1626:Egf	UTSW	3	129686215	missense	possibly damaging	0.55
R1702:Egf	UTSW	3	129690811	missense	probably benign	0.17
R1906:Egf	UTSW	3	129725224	missense	probably benign	0.01
R2184:Egf	UTSW	3	129723358	nonsense	probably null
R3842:Egf	UTSW	3	129697793	nonsense	probably null
R3918:Egf	UTSW	3	129696860	missense	probably null	0.22
R4073:Egf	UTSW	3	129735969	missense	probably benign	0.01
R4074:Egf	UTSW	3	129735969	missense	probably benign	0.01
R4075:Egf	UTSW	3	129735969	missense	probably benign	0.01
R4307:Egf	UTSW	3	129719095	missense	probably damaging	0.99
R4321:Egf	UTSW	3	129706134	missense	probably damaging	1.00
R4617:Egf	UTSW	3	129690793	missense	probably benign	0.02
R4646:Egf	UTSW	3	129720276	missense	probably damaging	1.00
R4674:Egf	UTSW	3	129718040	missense	probably damaging	1.00
R4798:Egf	UTSW	3	129716678	missense	probably damaging	1.00
R4931:Egf	UTSW	3	129711468	missense	probably damaging	1.00
R4992:Egf	UTSW	3	129711530	splice site	probably null
R5166:Egf	UTSW	3	129735840	missense	probably benign
R5179:Egf	UTSW	3	129686287	missense	probably damaging	0.99
R5230:Egf	UTSW	3	129718024	missense	possibly damaging	0.95
R6043:Egf	UTSW	3	129736785	missense	probably benign	0.09
R6119:Egf	UTSW	3	129736772	missense	probably benign	0.00
R6493:Egf	UTSW	3	129719088	start gained	probably benign
R6639:Egf	UTSW	3	129736832	missense	probably benign	0.22
R6936:Egf	UTSW	3	129681204	missense	possibly damaging	0.95
R7019:Egf	UTSW	3	129718064	splice site	probably null
R7046:Egf	UTSW	3	129754958	missense	unknown
R7463:Egf	UTSW	3	129740015	missense	probably benign	0.39
R7472:Egf	UTSW	3	129686263	missense	possibly damaging	0.53
R7723:Egf	UTSW	3	129706137	missense	probably benign	0.00
R7920:Egf	UTSW	3	129735840	missense	probably benign
R7952:Egf	UTSW	3	129739996	missense	probably damaging	1.00
R8098:Egf	UTSW	3	129690837	missense	probably benign	0.09
R8344:Egf	UTSW	3	129754943	missense	unknown
R8557:Egf	UTSW	3	129754951	missense	unknown
R8912:Egf	UTSW	3	129737515	missense	possibly damaging	0.47
R9091:Egf	UTSW	3	129735800	critical splice donor site	probably null
R9159:Egf	UTSW	3	129678377	missense	probably benign	0.17
R9270:Egf	UTSW	3	129735800	critical splice donor site	probably null
R9526:Egf	UTSW	3	129697772	missense	probably benign
R9544:Egf	UTSW	3	129717968	missense	probably benign	0.16
R9588:Egf	UTSW	3	129717968	missense	probably benign	0.16
R9630:Egf	UTSW	3	129725195	missense	possibly damaging	0.76
R9639:Egf	UTSW	3	129720300	missense	possibly damaging	0.93
R9751:Egf	UTSW	3	129754889	missense	probably damaging	0.99
R9772:Egf	UTSW	3	129706107	missense	probably benign	0.01
R9776:Egf	UTSW	3	129736865	missense	probably damaging	0.99
X0011:Egf	UTSW	3	129711298	missense	probably benign	0.19
Z1176:Egf	UTSW	3	129697717	critical splice donor site	probably null

Posted On

2013-10-07