Mutagenetix > Incidental Mutation

Incidental Mutation 'R4798:Egf'

369191

Institutional Source

Beutler Lab

Gene Symbol

Egf

Ensembl Gene

ENSMUSG00000028017

Gene Name

epidermal growth factor

Synonyms

MMRRC Submission

042422-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129471223-129548971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 129510327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 64 (G64D)

Ref Sequence

ENSEMBL: ENSMUSP00000143075 (fasta)

Gene Model

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

AlphaFold

P01132

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029653
AA Change: G565D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: G565D

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 damaging
Transcript: ENSMUST00000197079
AA Change: G64D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: G64D

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 damaging
Transcript: ENSMUST00000197713
AA Change: G64D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143108
Gene: ENSMUSG00000028017
AA Change: G64D

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

possibly damaging
Transcript: ENSMUST00000199615
AA Change: G64D

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: G64D

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

Meta Mutation Damage Score

0.6318

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (111/114)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,843 (GRCm39)	W1083R	possibly damaging	Het
Adamts10	T	A	17: 33,747,726 (GRCm39)	L54Q	probably damaging	Het
Ankrd24	A	C	10: 81,479,149 (GRCm39)		probably benign	Het
Atg2b	A	G	12: 105,618,888 (GRCm39)	S813P	probably benign	Het
Atp13a3	T	A	16: 30,160,058 (GRCm39)	I716F	probably damaging	Het
Atp6v1c1	T	A	15: 38,689,420 (GRCm39)	W294R	probably damaging	Het
Atrnl1	G	T	19: 58,030,793 (GRCm39)	A1312S	probably benign	Het
Bcl2	A	T	1: 106,640,338 (GRCm39)	H91Q	possibly damaging	Het
Cacna1c	G	A	6: 118,607,263 (GRCm39)	Q1214*	probably null	Het
Cacna1g	C	A	11: 94,324,673 (GRCm39)	G1183W	probably damaging	Het
Capsl	A	T	15: 9,461,828 (GRCm39)	M75L	probably benign	Het
Ccdc122	T	G	14: 77,349,047 (GRCm39)		probably benign	Het
Ccdc57	T	G	11: 120,772,683 (GRCm39)	R645S	possibly damaging	Het
Cdh8	T	A	8: 99,751,558 (GRCm39)	R720*	probably null	Het
Cenpx	T	G	11: 120,602,610 (GRCm39)		probably benign	Het
Clic3	T	C	2: 25,348,194 (GRCm39)	S114P	probably damaging	Het
Cracdl	A	T	1: 37,664,046 (GRCm39)	D617E	probably benign	Het
Crtac1	A	T	19: 42,312,240 (GRCm39)	W158R	possibly damaging	Het
Dennd2b	C	T	7: 109,156,240 (GRCm39)	G170D	probably damaging	Het
Dhrs11	T	A	11: 84,719,626 (GRCm39)	Q33L	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpp9	G	T	17: 56,498,016 (GRCm39)	Q647K	probably damaging	Het
Eif2b4	C	T	5: 31,346,864 (GRCm39)		probably benign	Het
Epas1	A	G	17: 87,113,267 (GRCm39)	N151S	probably benign	Het
Fastkd1	A	T	2: 69,521,651 (GRCm39)	I707K	probably benign	Het
Fbln2	A	G	6: 91,246,168 (GRCm39)	T1005A	probably benign	Het
Fgfrl1	T	A	5: 108,851,363 (GRCm39)	Y93*	probably null	Het
Fktn	A	G	4: 53,744,637 (GRCm39)	T306A	probably benign	Het
Gabbr2	T	G	4: 46,991,139 (GRCm39)	Y96S	possibly damaging	Het
Gm16332	A	T	1: 139,819,396 (GRCm39)		noncoding transcript	Het
Gm5145	G	T	17: 20,790,810 (GRCm39)	V63F	probably damaging	Het
Gm9970	G	T	5: 31,398,429 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,787,993 (GRCm39)	T545A	probably damaging	Het
Heatr1	G	A	13: 12,426,929 (GRCm39)	E685K	probably benign	Het
Herc6	A	T	6: 57,581,151 (GRCm39)	I284F	probably damaging	Het
Hook1	C	G	4: 95,890,794 (GRCm39)	A301G	possibly damaging	Het
Hpcal4	T	A	4: 123,084,491 (GRCm39)	M140K	possibly damaging	Het
Il11ra1	T	C	4: 41,766,096 (GRCm39)		probably benign	Het
Ildr1	A	T	16: 36,542,917 (GRCm39)	H439L	possibly damaging	Het
Itga11	A	G	9: 62,684,009 (GRCm39)		probably null	Het
Jag2	A	T	12: 112,880,252 (GRCm39)	D337E	probably benign	Het
Krt82	C	T	15: 101,458,923 (GRCm39)	R39Q	probably benign	Het
L3mbtl4	T	A	17: 68,666,475 (GRCm39)	M1K	probably null	Het
Lrrc32	T	G	7: 98,148,224 (GRCm39)	F335V	probably damaging	Het
Lurap1l	T	A	4: 80,829,650 (GRCm39)	V20E	probably damaging	Het
Lyar	T	A	5: 38,385,230 (GRCm39)	V90D	possibly damaging	Het
Man2c1	C	T	9: 57,048,469 (GRCm39)	R778*	probably null	Het
Mapk6	A	G	9: 75,295,714 (GRCm39)	F595L	probably benign	Het
Mccc1	A	G	3: 36,039,150 (GRCm39)	I281T	probably damaging	Het
Mep1b	T	C	18: 21,226,311 (GRCm39)	V391A	probably damaging	Het
Mier1	G	A	4: 102,988,195 (GRCm39)	D40N	probably damaging	Het
Mkx	T	C	18: 7,002,432 (GRCm39)	H38R	probably benign	Het
Mroh4	A	G	15: 74,498,028 (GRCm39)	L184P	probably damaging	Het
Muc2	C	A	7: 141,307,877 (GRCm39)	N834K	probably benign	Het
Mycl	A	G	4: 122,894,049 (GRCm39)	D283G	probably damaging	Het
Myh6	T	C	14: 55,190,750 (GRCm39)	N975S	probably damaging	Het
Myl12a	A	G	17: 71,303,297 (GRCm39)		probably benign	Het
Mysm1	T	C	4: 94,853,910 (GRCm39)	T230A	probably benign	Het
Naca	A	G	10: 127,883,672 (GRCm39)	K2099R	probably null	Het
Nbeal1	T	G	1: 60,261,352 (GRCm39)		probably null	Het
Nedd1	A	G	10: 92,534,772 (GRCm39)	V246A	probably benign	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Ninl	G	A	2: 150,801,801 (GRCm39)	R156*	probably null	Het
Obscn	T	A	11: 58,960,685 (GRCm39)	I3418F	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Pappa2	T	C	1: 158,684,949 (GRCm39)	N730S	probably damaging	Het
Pcm1	G	A	8: 41,746,715 (GRCm39)	D1305N	probably damaging	Het
Pcsk4	A	T	10: 80,158,938 (GRCm39)	I485N	probably damaging	Het
Phldb2	T	C	16: 45,646,237 (GRCm39)	R111G	probably damaging	Het
Prdm10	T	C	9: 31,252,569 (GRCm39)	F385S	probably damaging	Het
Prkcsh	C	T	9: 21,923,034 (GRCm39)	P351L	probably damaging	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Rad51c	T	C	11: 87,286,204 (GRCm39)	D251G	probably damaging	Het
Radil	A	G	5: 142,470,918 (GRCm39)	F1088L	probably benign	Het
Rere	C	A	4: 150,699,624 (GRCm39)		probably benign	Het
Rnf167	T	A	11: 70,540,961 (GRCm39)	C196S	probably benign	Het
Robo2	T	A	16: 74,149,633 (GRCm39)	Y65F	probably damaging	Het
Scarf2	G	A	16: 17,621,371 (GRCm39)	C319Y	probably damaging	Het
Sec24c	A	G	14: 20,743,780 (GRCm39)	D995G	probably damaging	Het
Selenbp1	T	C	3: 94,851,211 (GRCm39)	L369S	probably benign	Het
Sgpl1	A	T	10: 60,959,123 (GRCm39)	I53K	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc1a6	A	T	10: 78,635,952 (GRCm39)	Y339F	probably damaging	Het
Smchd1	G	T	17: 71,667,048 (GRCm39)	Y1781*	probably null	Het
Smg1	T	C	7: 117,779,697 (GRCm39)	S1233G	probably benign	Het
Snap91	A	T	9: 86,665,507 (GRCm39)		probably benign	Het
Snx29	T	A	16: 11,238,600 (GRCm39)	L112Q	probably damaging	Het
Sptbn5	T	C	2: 119,889,622 (GRCm39)		probably benign	Het
Srl	A	T	16: 4,310,222 (GRCm39)	H502Q	possibly damaging	Het
St8sia3	A	G	18: 64,404,820 (GRCm39)	M366V	probably benign	Het
Stk19	A	T	17: 35,041,485 (GRCm39)		probably benign	Het
Syngap1	G	A	17: 27,180,423 (GRCm39)	A611T	probably benign	Het
Tas2r113	A	G	6: 132,870,670 (GRCm39)	T233A	possibly damaging	Het
Tbcc	G	A	17: 47,202,145 (GRCm39)	W177*	probably null	Het
Tcstv3	T	A	13: 120,779,618 (GRCm39)		probably null	Het
Trav13-5	T	A	14: 54,033,408 (GRCm39)	C106S	probably damaging	Het
Trmt61a	G	A	12: 111,645,147 (GRCm39)	V28M	possibly damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Urb1	T	C	16: 90,554,715 (GRCm39)	N1839S	probably benign	Het
Ush2a	T	C	1: 188,475,742 (GRCm39)	L2893P	probably damaging	Het
Usp24	G	A	4: 106,217,359 (GRCm39)	V421M	possibly damaging	Het
Vmn1r43	T	C	6: 89,846,892 (GRCm39)	E198G	probably benign	Het
Vps13d	A	C	4: 144,904,626 (GRCm39)	S130A	probably damaging	Het
Zfp426	T	A	9: 20,382,310 (GRCm39)	I211F	probably benign	Het
Znfx1	T	C	2: 166,880,489 (GRCm39)		probably null	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
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
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'- TCTTGTCCTCACCAAGTGGC -3'
(R):5'- ACATTTTCAGGAGTAGCAGAGTTG -3'

Sequencing Primer
(F):5'- AAGTGGCCAGCCGTACTTCTC -3'
(R):5'- GCATGACCTGAAGAGCTGTTAATCC -3'

Posted On

2016-02-04