Mutagenetix > Incidental Mutation

Incidental Mutation 'R0200:Egf'

23545

Institutional Source

Beutler Lab

Gene Symbol

Egf

Ensembl Gene

ENSMUSG00000028017

Gene Name

epidermal growth factor

Synonyms

MMRRC Submission

038457-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0200 (G1)

Quality Score

196

Status

Not validated

Chromosome

Chromosomal Location

129677565-129755316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129706233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 252 (Y252H)

Ref Sequence

ENSEMBL: ENSMUSP00000143075 (fasta)

Gene Model

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

AlphaFold

P01132

Predicted Effect

probably benign
Transcript: ENSMUST00000029653
AA Change: Y753H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: Y753H

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 benign
Transcript: ENSMUST00000197079
AA Change: Y252H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: Y252H

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

silent
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 benign
Transcript: ENSMUST00000199615
AA Change: Y252H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: Y252H

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

1x: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.2%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Aatf	T	C	11: 84,445,676	K466E	probably damaging	Het
Abcc3	T	C	11: 94,355,074	D1245G	probably damaging	Het
Adam12	T	C	7: 133,974,416		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ank1	T	G	8: 23,096,812	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,441,966	S402G	possibly damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,979,814	Q107*	probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Cacng3	T	A	7: 122,671,785	C4*	probably null	Het
Ccdc129	T	C	6: 55,897,956	L297P	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cecr2	T	G	6: 120,761,797	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,480,720	V17A	probably benign	Het
Col20a1	T	C	2: 181,000,438	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,261,776	M156K	possibly damaging	Het
Defb25	C	A	2: 152,622,412	V71L	probably benign	Het
Dhx35	A	T	2: 158,829,623	M325L	probably benign	Het
Dhx57	A	T	17: 80,251,473	L1019H	probably damaging	Het
Dnah6	T	A	6: 73,069,420	D3195V	probably damaging	Het
Dph5	A	G	3: 115,928,703	S277G	probably benign	Het
Dpm1	C	A	2: 168,223,155		probably null	Het
Dsg1a	A	T	18: 20,340,938	M1023L	probably benign	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,361,040	Y455C	probably damaging	Het
Gm14085	T	A	2: 122,527,447	*661R	probably null	Het
Iars	A	T	13: 49,726,202	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,634,676	G325V	probably damaging	Het
Il1rl1	T	A	1: 40,441,303	W31R	possibly damaging	Het
Ip6k3	C	T	17: 27,145,025	D350N	probably damaging	Het
Irgc1	T	C	7: 24,432,006	D462G	probably benign	Het
Jph3	A	G	8: 121,784,833	E520G	probably benign	Het
Kcna2	T	A	3: 107,105,160	D352E	probably benign	Het
Klk4	T	A	7: 43,885,361	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,985,297	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,970,690		probably null	Het
Lhpp	C	T	7: 132,610,677		probably benign	Het
Lypd3	T	A	7: 24,640,231	V241D	probably damaging	Het
Lyz2	T	A	10: 117,280,773	N57Y	possibly damaging	Het
Man1a	A	G	10: 54,074,498	V176A	probably damaging	Het
Mcm4	G	A	16: 15,629,639	T487I	probably benign	Het
Mettl21c	T	A	1: 44,013,654	I68F	probably damaging	Het
Miip	T	A	4: 147,862,263	T313S	probably damaging	Het
Mog	A	T	17: 37,012,419	I209K	probably damaging	Het
Myo1c	C	A	11: 75,672,182	D997E	probably benign	Het
Npc1	T	C	18: 12,219,204	Y146C	probably damaging	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr231	T	C	1: 174,117,512	H168R	probably benign	Het
Olfr531	T	C	7: 140,400,875	Y57C	probably damaging	Het
Olfr56	T	A	11: 49,135,047	M285K	probably damaging	Het
Opa1	A	G	16: 29,614,129	N544S	probably benign	Het
Pam	C	T	1: 97,894,401		probably null	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Plxdc1	T	C	11: 97,934,012	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,323,593	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,197,088	V1191M	probably damaging	Het
Polk	T	A	13: 96,496,822	N238Y	probably benign	Het
Ptprq	T	C	10: 107,685,157	N718S	probably benign	Het
Rsrc1	A	T	3: 67,180,861	H176L	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,483,831	K238R	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Slc12a4	T	C	8: 105,951,617	R315G	probably benign	Het
Slc16a10	A	G	10: 40,040,616	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spata7	T	A	12: 98,663,169	S332T	probably benign	Het
Spsb1	A	G	4: 149,898,216	*274R	probably null	Het
Sspo	T	G	6: 48,486,415	V3767G	probably null	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Tgm6	T	A	2: 130,152,945		probably null	Het
Them7	A	C	2: 105,297,917	N81T	probably damaging	Het
Tinag	C	A	9: 76,951,935	A464S	probably damaging	Het
Tmem217	T	G	17: 29,526,310	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,795,683	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,432,099	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,544,380	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,883,818	M242T	probably benign	Het
Xkr4	T	C	1: 3,670,663	N229S	probably benign	Het
Zcchc2	T	A	1: 106,004,123	L352M	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp638	T	C	6: 83,967,354	L1018P	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
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	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

Predicted Primers

PCR Primer
(F):5'- GCATTCTTGAAGGCACAGGAGCAC -3'
(R):5'- AAGTCGCATACGGTCACAGCAC -3'

Sequencing Primer
(F):5'- GCACTACAATGGTCAAAAGCAG -3'
(R):5'- TACGGTCACAGCACTCTGAG -3'

Posted On

2013-04-16