Mutagenetix > Incidental Mutation

Incidental Mutation 'R9639:Egf'

725865

Institutional Source

Beutler Lab

Gene Symbol

Egf

Ensembl Gene

ENSMUSG00000028017

Gene Name

epidermal growth factor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9639 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129471223-129548971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129513949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 421 (T421A)

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

possibly damaging
Transcript: ENSMUST00000029653
AA Change: T421A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: T421A

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,893,345 (GRCm39)	D1265G	probably benign	Het
Baz2b	T	A	2: 59,731,828 (GRCm39)	N2070I	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Chd9	A	T	8: 91,760,840 (GRCm39)	E2195V	probably null	Het
Cracd	T	C	5: 77,005,997 (GRCm39)	V786A	unknown	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Ddx11	A	G	17: 66,437,012 (GRCm39)	D102G		Het
Fbxo11	A	G	17: 88,316,107 (GRCm39)	V365A		Het
Gmps	T	A	3: 63,922,938 (GRCm39)	S634T	probably damaging	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Lyplal1	A	T	1: 185,849,409 (GRCm39)	C13*	probably null	Het
Mycbp2	A	G	14: 103,433,817 (GRCm39)	W2255R	probably damaging	Het
Myo5c	C	A	9: 75,165,477 (GRCm39)	H428Q	probably damaging	Het
Nrap	T	C	19: 56,333,948 (GRCm39)	T1005A	possibly damaging	Het
Or2bd2	A	T	7: 6,443,290 (GRCm39)	R130S	probably benign	Het
Pcdh12	C	T	18: 38,402,032 (GRCm39)	M1123I	probably damaging	Het
Pdzrn3	A	G	6: 101,146,172 (GRCm39)	S393P	probably benign	Het
Pgr	A	T	9: 8,900,994 (GRCm39)	S176C	possibly damaging	Het
Ppp2r3d	T	C	9: 101,022,713 (GRCm39)	N312S	probably benign	Het
Qrich2	G	A	11: 116,346,924 (GRCm39)	P1300L	probably benign	Het
Sap130	T	C	18: 31,844,789 (GRCm39)		probably null	Het
Slc15a3	T	A	19: 10,820,717 (GRCm39)	Y111*	probably null	Het
Slc26a9	A	G	1: 131,678,409 (GRCm39)	E25G	probably damaging	Het
Slc2a3	A	G	6: 122,714,199 (GRCm39)	F110L	probably benign	Het
Spesp1	A	T	9: 62,180,238 (GRCm39)	D223E	possibly damaging	Het
St18	T	C	1: 6,929,246 (GRCm39)	I46T		Het
Trmt6	T	A	2: 132,650,862 (GRCm39)	K249*	probably null	Het
Ttll10	A	T	4: 156,119,503 (GRCm39)	I632K	probably benign	Het
Vmn1r216	A	G	13: 23,283,518 (GRCm39)	N67S	probably benign	Het
Vmn1r28	C	T	6: 58,242,996 (GRCm39)	Q280*	probably null	Het
Vmn2r38	T	G	7: 9,078,063 (GRCm39)	D773A	probably damaging	Het
Vmn2r92	A	G	17: 18,372,352 (GRCm39)	Y54C	probably damaging	Het
Ywhae	G	A	11: 75,650,248 (GRCm39)	G237S	probably benign	Het
Zswim5	A	G	4: 116,836,714 (GRCm39)	E666G	probably damaging	Het

Other mutations in Egf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Egf	APN	3	129,505,098 (GRCm39)	missense	probably benign	0.01
IGL00579:Egf	APN	3	129,491,447 (GRCm39)	missense	probably benign	0.36
IGL01307:Egf	APN	3	129,533,642 (GRCm39)	missense	probably damaging	0.99
IGL01314:Egf	APN	3	129,479,909 (GRCm39)	missense	probably benign	0.16
IGL01360:Egf	APN	3	129,533,669 (GRCm39)	missense	probably damaging	1.00
IGL01367:Egf	APN	3	129,496,104 (GRCm39)	critical splice donor site	probably null
IGL01610:Egf	APN	3	129,499,909 (GRCm39)	splice site	probably benign
IGL01721:Egf	APN	3	129,491,371 (GRCm39)	nonsense	probably null
IGL01803:Egf	APN	3	129,530,415 (GRCm39)	missense	probably benign	0.09
IGL01866:Egf	APN	3	129,529,529 (GRCm39)	missense	probably benign	0.03
IGL02001:Egf	APN	3	129,510,417 (GRCm39)	missense	probably damaging	1.00
IGL02141:Egf	APN	3	129,533,631 (GRCm39)	nonsense	probably null
IGL02209:Egf	APN	3	129,500,956 (GRCm39)	missense	possibly damaging	0.93
IGL02347:Egf	APN	3	129,472,026 (GRCm39)	missense	probably benign	0.17
IGL02821:Egf	APN	3	129,496,128 (GRCm39)	missense	probably damaging	1.00
IGL02902:Egf	APN	3	129,474,796 (GRCm39)	missense	probably benign	0.34
IGL03114:Egf	APN	3	129,530,529 (GRCm39)	missense	probably damaging	0.98
PIT4151001:Egf	UTSW	3	129,496,198 (GRCm39)	missense	probably benign	0.00
R0200:Egf	UTSW	3	129,531,198 (GRCm39)	missense	probably damaging	1.00
R0200:Egf	UTSW	3	129,499,882 (GRCm39)	missense	probably benign	0.00
R0463:Egf	UTSW	3	129,531,198 (GRCm39)	missense	probably damaging	1.00
R0463:Egf	UTSW	3	129,499,882 (GRCm39)	missense	probably benign	0.00
R0507:Egf	UTSW	3	129,474,828 (GRCm39)	missense	possibly damaging	0.62
R0801:Egf	UTSW	3	129,496,234 (GRCm39)	splice site	probably benign
R1495:Egf	UTSW	3	129,506,655 (GRCm39)	missense	probably damaging	1.00
R1535:Egf	UTSW	3	129,484,427 (GRCm39)	missense	probably benign	0.00
R1626:Egf	UTSW	3	129,479,864 (GRCm39)	missense	possibly damaging	0.55
R1702:Egf	UTSW	3	129,484,460 (GRCm39)	missense	probably benign	0.17
R1906:Egf	UTSW	3	129,518,873 (GRCm39)	missense	probably benign	0.01
R2184:Egf	UTSW	3	129,517,007 (GRCm39)	nonsense	probably null
R3842:Egf	UTSW	3	129,491,442 (GRCm39)	nonsense	probably null
R3918:Egf	UTSW	3	129,490,509 (GRCm39)	missense	probably null	0.22
R4073:Egf	UTSW	3	129,529,618 (GRCm39)	missense	probably benign	0.01
R4074:Egf	UTSW	3	129,529,618 (GRCm39)	missense	probably benign	0.01
R4075:Egf	UTSW	3	129,529,618 (GRCm39)	missense	probably benign	0.01
R4307:Egf	UTSW	3	129,512,744 (GRCm39)	missense	probably damaging	0.99
R4321:Egf	UTSW	3	129,499,783 (GRCm39)	missense	probably damaging	1.00
R4617:Egf	UTSW	3	129,484,442 (GRCm39)	missense	probably benign	0.02
R4646:Egf	UTSW	3	129,513,925 (GRCm39)	missense	probably damaging	1.00
R4674:Egf	UTSW	3	129,511,689 (GRCm39)	missense	probably damaging	1.00
R4798:Egf	UTSW	3	129,510,327 (GRCm39)	missense	probably damaging	1.00
R4931:Egf	UTSW	3	129,505,117 (GRCm39)	missense	probably damaging	1.00
R4992:Egf	UTSW	3	129,505,179 (GRCm39)	splice site	probably null
R5166:Egf	UTSW	3	129,529,489 (GRCm39)	missense	probably benign
R5179:Egf	UTSW	3	129,479,936 (GRCm39)	missense	probably damaging	0.99
R5230:Egf	UTSW	3	129,511,673 (GRCm39)	missense	possibly damaging	0.95
R6043:Egf	UTSW	3	129,530,434 (GRCm39)	missense	probably benign	0.09
R6119:Egf	UTSW	3	129,530,421 (GRCm39)	missense	probably benign	0.00
R6493:Egf	UTSW	3	129,512,737 (GRCm39)	start gained	probably benign
R6639:Egf	UTSW	3	129,530,481 (GRCm39)	missense	probably benign	0.22
R6936:Egf	UTSW	3	129,474,853 (GRCm39)	missense	possibly damaging	0.95
R7019:Egf	UTSW	3	129,511,713 (GRCm39)	splice site	probably null
R7046:Egf	UTSW	3	129,548,607 (GRCm39)	missense	unknown
R7463:Egf	UTSW	3	129,533,664 (GRCm39)	missense	probably benign	0.39
R7472:Egf	UTSW	3	129,479,912 (GRCm39)	missense	possibly damaging	0.53
R7723:Egf	UTSW	3	129,499,786 (GRCm39)	missense	probably benign	0.00
R7920:Egf	UTSW	3	129,529,489 (GRCm39)	missense	probably benign
R7952:Egf	UTSW	3	129,533,645 (GRCm39)	missense	probably damaging	1.00
R8098:Egf	UTSW	3	129,484,486 (GRCm39)	missense	probably benign	0.09
R8344:Egf	UTSW	3	129,548,592 (GRCm39)	missense	unknown
R8557:Egf	UTSW	3	129,548,600 (GRCm39)	missense	unknown
R8912:Egf	UTSW	3	129,531,164 (GRCm39)	missense	possibly damaging	0.47
R9091:Egf	UTSW	3	129,529,449 (GRCm39)	critical splice donor site	probably null
R9159:Egf	UTSW	3	129,472,026 (GRCm39)	missense	probably benign	0.17
R9270:Egf	UTSW	3	129,529,449 (GRCm39)	critical splice donor site	probably null
R9526:Egf	UTSW	3	129,491,421 (GRCm39)	missense	probably benign
R9544:Egf	UTSW	3	129,511,617 (GRCm39)	missense	probably benign	0.16
R9588:Egf	UTSW	3	129,511,617 (GRCm39)	missense	probably benign	0.16
R9630:Egf	UTSW	3	129,518,844 (GRCm39)	missense	possibly damaging	0.76
R9751:Egf	UTSW	3	129,548,538 (GRCm39)	missense	probably damaging	0.99
R9772:Egf	UTSW	3	129,499,756 (GRCm39)	missense	probably benign	0.01
R9776:Egf	UTSW	3	129,530,514 (GRCm39)	missense	probably damaging	0.99
X0011:Egf	UTSW	3	129,504,947 (GRCm39)	missense	probably benign	0.19
Z1176:Egf	UTSW	3	129,491,366 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCACTGGAAGACCTAGCCTG -3'
(R):5'- GAAATAGTTTCCCCAAATCCTAGC -3'

Sequencing Primer
(F):5'- ACTGGAAGACCTAGCCTGCTTTG -3'
(R):5'- CAGAGTAGCAACTGATTGTAA -3'

Posted On

2022-09-12