Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Egf'

316445

Institutional Source

Beutler Lab

Gene Symbol

Egf

Ensembl Gene

ENSMUSG00000028017

Gene Name

epidermal growth factor

Synonyms

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129677565-129755316 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129735969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 264 (R264Q)

Ref Sequence

ENSEMBL: ENSMUSP00000029653 (fasta)

Gene Model

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

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: R264Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: R264Q

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: ENSMUST00000198093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198992

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,480,590	E422G	probably damaging	Het
5830473C10Rik	T	A	5: 90,592,868		probably null	Het
8430408G22Rik	A	G	6: 116,652,068	N124S	possibly damaging	Het
Ace3	A	G	11: 105,997,214	Y287C	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Chgb	C	A	2: 132,793,927	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,221,217	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,622,947	F254L	possibly damaging	Het
Crb2	G	T	2: 37,786,843	C251F	probably damaging	Het
Crybg3	A	T	16: 59,555,757		probably benign	Het
Cytl1	A	G	5: 37,735,596	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,656,218		probably benign	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Dst	T	C	1: 34,228,461	F4995L	probably damaging	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ero1l	A	T	14: 45,292,436		probably null	Het
Etl4	T	C	2: 20,809,219		probably benign	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,794,127	D289G	probably damaging	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm5134	T	A	10: 76,008,531	W574R	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Gm5414	T	C	15: 101,625,553	N332D	probably benign	Het
Gnb3	T	A	6: 124,836,979	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Ighv1-4	A	G	12: 114,487,527	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,725,521	Y74*	probably null	Het
Il17f	G	A	1: 20,777,763		probably benign	Het
Itpr2	C	T	6: 146,373,244		probably null	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,914,890	F85Y	probably benign	Het
Lrig3	C	T	10: 126,013,408	T999I	probably benign	Het
Myh7b	T	C	2: 155,618,758	I277T	probably damaging	Het
Myo3b	T	C	2: 70,289,464	F984S	probably damaging	Het
Naip5	G	A	13: 100,246,064	R46W	probably damaging	Het
Nup205	T	A	6: 35,192,040		probably null	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde11a	C	T	2: 76,337,898	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Psg23	A	T	7: 18,607,118	S404T	possibly damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,154,287	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Swt1	A	G	1: 151,394,769	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,671,871	N396S	probably benign	Het
Tuba8	T	A	6: 121,222,797	S147T	probably damaging	Het
Usp8	A	G	2: 126,752,370	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,156,700	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,787,415	H417L	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably damaging	Het
Zmym2	T	C	14: 56,903,004	L100P	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
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
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

Posted On

2015-05-15