Mutagenetix > Incidental Mutation

Incidental Mutation 'R9091:Egf'

690982

Institutional Source

Beutler Lab

Gene Symbol

Egf

Ensembl Gene

ENSMUSG00000028017

Gene Name

epidermal growth factor

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9091 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129471223-129548971 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 129529449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000029653

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	T	A	3: 30,652,781 (GRCm39)	E104D	probably damaging	Het
Arih2	A	T	9: 108,493,890 (GRCm39)	D174E	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Baiap2l2	A	G	15: 79,168,205 (GRCm39)		probably null	Het
Btla	T	C	16: 45,064,656 (GRCm39)	F203L	possibly damaging	Het
C1rb	A	T	6: 124,551,947 (GRCm39)	D283V	probably damaging	Het
C87436	C	G	6: 86,442,813 (GRCm39)	Q462E	probably benign	Het
Ccdc149	T	C	5: 52,563,352 (GRCm39)	D147G	possibly damaging	Het
Chd6	A	T	2: 160,871,793 (GRCm39)	L214*	probably null	Het
Chrna4	C	A	2: 180,670,643 (GRCm39)	R371L	possibly damaging	Het
Cit	C	A	5: 115,984,161 (GRCm39)		probably benign	Het
Cpne5	A	G	17: 29,444,163 (GRCm39)		probably null	Het
Cr1l	T	C	1: 194,789,204 (GRCm39)	E400G	possibly damaging	Het
Creb3l2	T	C	6: 37,332,583 (GRCm39)	N304D	probably damaging	Het
Cyp17a1	T	C	19: 46,656,030 (GRCm39)	T420A	probably benign	Het
Cyp24a1	A	G	2: 170,327,853 (GRCm39)	I463T	probably damaging	Het
Cyp3a41b	A	T	5: 145,514,973 (GRCm39)	I84N	probably damaging	Het
Dnajc6	G	A	4: 101,496,559 (GRCm39)	V909M	possibly damaging	Het
Dtl	A	G	1: 191,288,923 (GRCm39)	Y264H	probably damaging	Het
Dysf	C	T	6: 84,077,216 (GRCm39)	R660*	probably null	Het
Eva1c	T	C	16: 90,701,231 (GRCm39)	S402P	probably benign	Het
Fcho2	A	T	13: 98,925,869 (GRCm39)		probably null	Het
Fhdc1	G	A	3: 84,352,290 (GRCm39)	R197C	unknown	Het
Foxa2	T	A	2: 147,886,426 (GRCm39)	M136L	probably benign	Het
Gm10226	T	C	17: 21,910,866 (GRCm39)	C34R	possibly damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm8947	T	C	1: 151,068,853 (GRCm39)	S229P	probably benign	Het
Ighv9-2	A	T	12: 114,072,896 (GRCm39)	S26T	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kat6a	T	G	8: 23,420,190 (GRCm39)	I745M	probably damaging	Het
Klhdc1	T	C	12: 69,309,968 (GRCm39)	L290P	probably damaging	Het
Lcp2	C	T	11: 34,039,688 (GRCm39)	T496I		Het
Map4k4	T	C	1: 40,042,923 (GRCm39)	W593R	probably benign	Het
Mefv	T	G	16: 3,535,841 (GRCm39)	Q29P	probably damaging	Het
Mgat5b	T	C	11: 116,859,269 (GRCm39)	Y34H		Het
Mlip	C	T	9: 77,137,080 (GRCm39)	R609Q	probably benign	Het
Muc2	A	G	7: 141,290,816 (GRCm39)	D34G		Het
Nbeal1	C	T	1: 60,307,548 (GRCm39)	P1687S	possibly damaging	Het
Notch1	T	A	2: 26,369,895 (GRCm39)	I477L	probably damaging	Het
Odad2	T	A	18: 7,217,846 (GRCm39)	K623*	probably null	Het
Or1l4b	G	A	2: 37,037,047 (GRCm39)	M274I	probably benign	Het
Or1s2	T	C	19: 13,758,333 (GRCm39)	V117A	probably benign	Het
Or4a2	A	T	2: 89,248,712 (GRCm39)	L15Q	probably damaging	Het
Or51v8	T	A	7: 103,320,124 (GRCm39)	N38I	probably damaging	Het
Or6c214	A	G	10: 129,591,148 (GRCm39)	M57T	probably damaging	Het
Pak5	A	T	2: 135,958,688 (GRCm39)	S133R	probably damaging	Het
Pcyt1a	C	A	16: 32,285,332 (GRCm39)	D187E	probably benign	Het
Pdlim7	G	T	13: 55,655,354 (GRCm39)	T161K	probably damaging	Het
Phf8-ps	A	C	17: 33,286,701 (GRCm39)	C34G	probably damaging	Het
Pik3r4	A	G	9: 105,547,108 (GRCm39)	K962R	probably benign	Het
Pkd1l2	T	C	8: 117,759,433 (GRCm39)	K1516E	probably damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ptchd3	A	T	11: 121,733,180 (GRCm39)	Y690F	probably benign	Het
Ptpn13	A	T	5: 103,649,735 (GRCm39)	R379S	possibly damaging	Het
Rbm27	C	T	18: 42,438,829 (GRCm39)	A410V	probably benign	Het
Rnase4	A	G	14: 51,342,662 (GRCm39)	T129A	probably benign	Het
Serpinb11	C	T	1: 107,304,533 (GRCm39)	T166I	probably benign	Het
Shank2	A	G	7: 143,963,705 (GRCm39)	T438A	possibly damaging	Het
Slc13a2	T	C	11: 78,295,258 (GRCm39)	N172D	probably damaging	Het
Slc2a8	A	G	2: 32,864,864 (GRCm39)	F428L	probably damaging	Het
Slc38a6	T	C	12: 73,398,544 (GRCm39)	M358T	probably benign	Het
Snx29	A	G	16: 11,213,155 (GRCm39)	H107R	probably benign	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Spint3	G	A	2: 164,415,154 (GRCm39)	A21V	probably benign	Het
Susd1	A	T	4: 59,412,226 (GRCm39)	V162E	probably benign	Het
Syne2	T	G	12: 75,977,834 (GRCm39)	N1426K	probably damaging	Het
Synj2	T	C	17: 6,067,875 (GRCm39)	V638A	possibly damaging	Het
Thada	A	T	17: 84,538,589 (GRCm39)	L1473Q	probably damaging	Het
Trim36	G	A	18: 46,300,580 (GRCm39)	S697L	possibly damaging	Het
Ttbk1	A	T	17: 46,781,517 (GRCm39)	I412N	possibly damaging	Het
Tubb2a	T	C	13: 34,258,578 (GRCm39)	D404G	probably damaging	Het
Tyk2	T	A	9: 21,035,841 (GRCm39)	N114Y	probably damaging	Het
Umodl1	A	G	17: 31,185,678 (GRCm39)	D139G	probably damaging	Het
Vmn2r101	T	A	17: 19,810,244 (GRCm39)	N343K	probably benign	Het
Vnn1	A	G	10: 23,780,464 (GRCm39)	D484G	probably damaging	Het
Vps13b	A	G	15: 35,770,919 (GRCm39)	T2121A	probably benign	Het
Wdr81	T	C	11: 75,345,216 (GRCm39)	E17G	probably benign	Het
Wnk2	T	G	13: 49,224,505 (GRCm39)	K1117Q	probably benign	Het
Zbtb46	C	T	2: 181,066,138 (GRCm39)	R4Q	probably benign	Het
Zfp608	T	A	18: 55,032,190 (GRCm39)	K583N	probably damaging	Het
Zfp729b	A	T	13: 67,740,480 (GRCm39)	L595H	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
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
R9639:Egf	UTSW	3	129,513,949 (GRCm39)	missense	possibly damaging	0.93
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'- TAAATCTAGTCACTGCCCAGC -3'
(R):5'- TCGGATCTTCTACTCAGTGTTG -3'

Sequencing Primer
(F):5'- GTACGTCTCCCTCATATAGATGAAG -3'
(R):5'- TCTACTCAGTGTTGAAAAGCAAGGC -3'

Posted On

2021-12-30