Mutagenetix > Incidental Mutation

Incidental Mutation 'R1906:Egf'

214352

Institutional Source

Beutler Lab

Gene Symbol

Egf

Ensembl Gene

ENSMUSG00000028017

Gene Name

epidermal growth factor

Synonyms

MMRRC Submission

039925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129677565-129755316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129725224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 325 (K325N)

Ref Sequence

ENSEMBL: ENSMUSP00000029653 (fasta)

Gene Model

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

AlphaFold

P01132

PDB Structure

ROLE OF THE 6-20 DISULFIDE BRIDGE IN THE STRUCTURE AND ACTIVITY OF EPIDERMAL GROWTH FACTOR, NMR, 20 STRUCTURES [SOLUTION NMR]
SOLUTION STRUCTURE OF MURINE EPIDERMAL GROWTH FACTOR DETERMINED BY NMR SPECTROSCOPY AND REFINED BY ENERGY MINIMIZATION WITH RESTRAINTS [SOLUTION NMR]
THREE-DIMENSIONAL NUCLEAR MAGNETIC RESONANCE STRUCTURES OF MOUSE EPIDERMAL GROWTH FACTOR IN ACIDIC AND PHYSIOLOGICAL PH SOLUTIONS [SOLUTION NMR]
THREE-DIMENSIONAL NUCLEAR MAGNETIC RESONANCE STRUCTURES OF MOUSE EPIDERMAL GROWTH FACTOR IN ACIDIC AND PHYSIOLOGICAL PH SOLUTIONS [SOLUTION NMR]
THREE-DIMENSIONAL NUCLEAR MAGNETIC RESONANCE STRUCTURES OF MOUSE EPIDERMAL GROWTH FACTOR IN ACIDIC AND PHYSIOLOGICAL PH SOLUTIONS [SOLUTION NMR]
THREE-DIMENSIONAL NUCLEAR MAGNETIC RESONANCE STRUCTURES OF MOUSE EPIDERMAL GROWTH FACTOR IN ACIDIC AND PHYSIOLOGICAL PH SOLUTIONS [SOLUTION NMR]
SOLUTION STRUCTURE THE MEGF/TGFALPHA44-50 CHIMERIC GROWTH FACTOR [SOLUTION NMR]
SOLUTION STRUCTURE OF MURINE EPIDERMAL GROWTH FACTOR DETERMINED BY NMR SPECTROSCOPY AND REFINED BY ENERGY MINIMIZATION WITH RESTRAINTS [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000029653
AA Change: K325N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: K325N

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

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

noncoding transcript
Transcript: ENSMUST00000198992

Predicted Effect

probably benign
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

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	G	A	6: 23,072,985	T923I	probably benign	Het
Abhd13	T	A	8: 9,988,170	C256S	probably benign	Het
Adamts5	C	T	16: 85,868,685	W576*	probably null	Het
Adnp	A	T	2: 168,182,367	S1003T	probably benign	Het
AI987944	C	T	7: 41,375,126	R146Q	probably benign	Het
Apol6	G	T	15: 77,050,860	V110F	probably damaging	Het
Arhgap27	A	G	11: 103,332,925	F651L	probably damaging	Het
Atm	T	C	9: 53,506,568	D813G	probably damaging	Het
Casd1	T	A	6: 4,641,979	I752N	probably damaging	Het
Cdr2	A	G	7: 120,982,001	Y18H	probably damaging	Het
Cntn4	T	C	6: 106,353,646	F75S	probably benign	Het
Col20a1	G	A	2: 180,998,697	R549H	probably benign	Het
Col28a1	A	T	6: 7,999,644	N1024K	probably benign	Het
Ddx58	T	C	4: 40,206,054	K846R	probably benign	Het
Dnah10	T	A	5: 124,800,984	V2654D	probably damaging	Het
Dnph1	A	T	17: 46,496,861	I18F	probably damaging	Het
Dsn1	G	A	2: 156,996,243	R334W	probably damaging	Het
Eps15	T	G	4: 109,324,201	S311A	possibly damaging	Het
Fmo3	G	T	1: 162,966,906	D198E	probably damaging	Het
Folh1	C	G	7: 86,742,166		probably null	Het
Foxn1	A	G	11: 78,371,810		probably null	Het
Gm10604	T	G	4: 11,979,989	D105A	unknown	Het
Gpx8	A	G	13: 113,045,576	C108R	probably damaging	Het
Herc2	A	T	7: 56,114,864	I1013L	probably benign	Het
Hyal4	T	G	6: 24,756,111	N109K	probably damaging	Het
Il22ra1	T	G	4: 135,751,233	C538W	probably damaging	Het
Ints13	A	T	6: 146,552,370		probably null	Het
Krt75	T	A	15: 101,573,366	T156S	possibly damaging	Het
Lama2	A	C	10: 27,056,527		probably null	Het
Lifr	G	T	15: 7,188,131	V847L	probably damaging	Het
Lmf1	T	A	17: 25,612,335	I185N	probably damaging	Het
Mast1	G	A	8: 84,916,266	R967C	probably damaging	Het
Ms4a15	T	C	19: 10,983,280	I94V	probably benign	Het
Mycbpap	A	T	11: 94,505,621	M131K	probably benign	Het
Ncor1	A	T	11: 62,349,385	M920K	possibly damaging	Het
Neb	A	G	2: 52,308,526	Y437H	probably damaging	Het
Npy5r	A	T	8: 66,681,473	W223R	probably damaging	Het
Olfr1219	A	G	2: 89,075,070	V7A	possibly damaging	Het
Olfr1333	G	A	4: 118,830,270	H56Y	probably damaging	Het
Olfr248	C	A	1: 174,391,164	L32M	probably damaging	Het
Olfr804	T	G	10: 129,705,496	V206G	probably benign	Het
Polg	T	C	7: 79,460,322	K353E	probably damaging	Het
Proz	C	G	8: 13,073,686		probably null	Het
Pus7	T	C	5: 23,778,211	D86G	probably damaging	Het
Rhpn1	T	C	15: 75,711,824	V386A	probably benign	Het
Sptbn4	A	G	7: 27,391,431		probably null	Het
Srp68	A	T	11: 116,250,761	I424N	probably damaging	Het
Stard9	A	G	2: 120,696,427	E1055G	probably benign	Het
Taf4b	A	G	18: 14,822,102	I571V	probably benign	Het
Tas2r107	T	C	6: 131,659,988	M33V	probably benign	Het
Thap12	T	C	7: 98,716,740	L705P	probably damaging	Het
Tom1	T	C	8: 75,051,590	V100A	probably damaging	Het
Tox3	A	G	8: 90,248,429		probably benign	Het
Vmn2r82	A	G	10: 79,396,510	N781S	probably damaging	Het
Vwa5b1	A	T	4: 138,600,236	V343E	possibly damaging	Het
Zbbx	A	G	3: 75,071,740	Y467H	probably damaging	Het
Zbtb46	G	A	2: 181,423,839	R173W	probably damaging	Het
Zfp112	A	G	7: 24,122,295	D20G	probably benign	Het
Zfp777	A	C	6: 48,042,061	M313R	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	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
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'- ACACACGCACTTCTCTAGCG -3'
(R):5'- ATTAGGCAAATAAGAGGCTTGACC -3'

Sequencing Primer
(F):5'- TCTAGCGGACCTCCTGC -3'
(R):5'- AGTGAGTTCTCTCATGGC -3'

Posted On

2014-07-14