Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02821:Egf'

361001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Egf

Ensembl Gene

ENSMUSG00000028017

Gene Name

epidermal growth factor

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02821

Quality Score

Status

Chromosome

Chromosomal Location

129677565-129755316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129702479 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 329 (E329G)

Ref Sequence

ENSEMBL: ENSMUSP00000142497 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029653
AA Change: E830G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: E830G

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 damaging
Transcript: ENSMUST00000197079
AA Change: E329G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: E329G

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 damaging
Transcript: ENSMUST00000199615
AA Change: E329G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: E329G

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	G	A	5: 5,452,039	Q138*	probably null	Het
1700025F22Rik	A	G	19: 11,141,533	*71Q	probably null	Het
4930474N05Rik	T	C	14: 36,096,516	L157S	probably benign	Het
Adam15	A	G	3: 89,345,356	S309P	probably damaging	Het
Agtpbp1	A	T	13: 59,482,601	M772K	possibly damaging	Het
Ankfn1	T	C	11: 89,391,616	M402V	probably benign	Het
Anln	G	A	9: 22,358,122	T822I	possibly damaging	Het
Atp13a4	A	G	16: 29,441,307	V589A	probably benign	Het
Ccm2l	C	T	2: 153,067,859	L44F	probably damaging	Het
Cd177	A	T	7: 24,744,393	L760Q	probably damaging	Het
Cd177	G	T	7: 24,744,394	L760M	probably damaging	Het
Cfap69	T	C	5: 5,664,017	E5G	probably benign	Het
Col4a1	G	A	8: 11,221,375	T753I	probably benign	Het
Col6a3	T	A	1: 90,803,878	D1551V	probably damaging	Het
Ddx20	A	G	3: 105,679,277	V584A	probably benign	Het
Dopey1	C	A	9: 86,520,156	H1136Q	probably benign	Het
Eif3c	A	G	7: 126,558,659	V337A	probably benign	Het
Eif3f	G	T	7: 108,934,674		probably benign	Het
Eif3f	C	T	7: 108,934,675		probably benign	Het
Evc	T	A	5: 37,326,396	I187F	probably benign	Het
Fam117a	T	G	11: 95,363,989		probably benign	Het
H2-M10.4	A	T	17: 36,460,431	V285E	probably damaging	Het
Hps4	G	T	5: 112,375,441	M608I	probably benign	Het
Idh3b	T	A	2: 130,284,401	N6I	probably benign	Het
Itgam	A	T	7: 128,076,109	M169L	probably damaging	Het
Kcnn3	G	A	3: 89,662,722	G614D	possibly damaging	Het
Kcnn3	A	G	3: 89,520,974	N169S	possibly damaging	Het
Mn1	A	T	5: 111,421,851	K1229M	probably damaging	Het
Nckap5	A	G	1: 126,027,816	M401T	probably damaging	Het
Olfr366	T	C	2: 37,220,100	S204P	probably damaging	Het
Olfr891	T	C	9: 38,180,668	N52D	possibly damaging	Het
Olfr985	T	G	9: 40,127,265	E232A	probably benign	Het
Sim2	G	A	16: 94,097,188	V94M	probably damaging	Het
Slc46a3	G	A	5: 147,886,012	T340M	probably benign	Het
Ssc4d	A	G	5: 135,966,069		probably benign	Het
Tcrg-V4	T	A	13: 19,185,252	D55E	possibly damaging	Het
Trav12-1	A	G	14: 53,538,459	D22G	probably damaging	Het
Trps1	G	A	15: 50,660,877	T969M	probably damaging	Het
Ttn	T	A	2: 76,889,550		probably benign	Het
Ubqln4	A	G	3: 88,563,151	N310S	probably benign	Het
Vapa	T	C	17: 65,582,761		probably benign	Het
Vmn1r65	T	C	7: 6,008,894	T114A	possibly damaging	Het
Vps13d	T	C	4: 145,148,762	E1725G	probably damaging	Het
Vps53	A	G	11: 76,136,317		probably benign	Het
Xkr9	T	C	1: 13,672,575	L28P	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
IGL01314:Egf	APN	3	129686260	missense	probably benign	0.16
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
IGL02902:Egf	APN	3	129681147	missense	probably benign	0.34
IGL03114:Egf	APN	3	129736880	missense	probably damaging	0.98
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	intron	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
X0011:Egf	UTSW	3	129711298	missense	probably benign	0.19

Posted On

2015-12-18