Incidental Mutation 'R4617:Egf'
ID |
351098 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Egf
|
Ensembl Gene |
ENSMUSG00000028017 |
Gene Name |
epidermal growth factor |
Synonyms |
|
MMRRC Submission |
041828-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4617 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
129471223-129548971 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 129484442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1001
(S1001T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029653
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029653]
[ENSMUST00000197079]
[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: S1001T
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000029653 Gene: ENSMUSG00000028017 AA Change: S1001T
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
AA Change: S500T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000143075 Gene: ENSMUSG00000028017 AA Change: S500T
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 |
noncoding transcript
Transcript: ENSMUST00000199209
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199272
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199615
AA Change: S459T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000142497 Gene: ENSMUSG00000028017 AA Change: S459T
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
96% (66/69) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,369,493 (GRCm39) |
I363V |
probably benign |
Het |
Acaa1a |
T |
A |
9: 119,178,006 (GRCm39) |
S279R |
probably damaging |
Het |
Akr1cl |
A |
G |
1: 65,060,550 (GRCm39) |
C156R |
probably damaging |
Het |
Arhgap11a |
G |
A |
2: 113,664,423 (GRCm39) |
T620M |
probably benign |
Het |
Brinp1 |
A |
G |
4: 68,681,198 (GRCm39) |
I444T |
possibly damaging |
Het |
Ccdc150 |
A |
G |
1: 54,394,913 (GRCm39) |
I760V |
probably benign |
Het |
Cdh26 |
G |
A |
2: 178,102,435 (GRCm39) |
|
probably benign |
Het |
Cpd |
A |
G |
11: 76,731,441 (GRCm39) |
L255P |
probably damaging |
Het |
Cyfip2 |
A |
G |
11: 46,144,845 (GRCm39) |
Y670H |
probably damaging |
Het |
Disp2 |
G |
A |
2: 118,620,643 (GRCm39) |
M458I |
probably benign |
Het |
Dot1l |
T |
C |
10: 80,620,918 (GRCm39) |
I563T |
probably damaging |
Het |
Elfn1 |
A |
G |
5: 139,957,764 (GRCm39) |
Y256C |
probably damaging |
Het |
Exoc4 |
C |
T |
6: 33,839,139 (GRCm39) |
T725I |
probably benign |
Het |
Fam168b |
A |
G |
1: 34,859,063 (GRCm39) |
V72A |
possibly damaging |
Het |
Fbxw20 |
C |
T |
9: 109,046,631 (GRCm39) |
S443N |
probably damaging |
Het |
Flacc1 |
A |
T |
1: 58,700,601 (GRCm39) |
D301E |
probably benign |
Het |
Flrt2 |
T |
C |
12: 95,747,003 (GRCm39) |
V447A |
possibly damaging |
Het |
Gm4846 |
A |
G |
1: 166,323,550 (GRCm39) |
S58P |
probably damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Lpcat2b |
T |
C |
5: 107,581,865 (GRCm39) |
L398P |
possibly damaging |
Het |
Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mrpl38 |
T |
C |
11: 116,023,278 (GRCm39) |
D325G |
probably damaging |
Het |
Mtmr12 |
A |
G |
15: 12,270,132 (GRCm39) |
E430G |
probably damaging |
Het |
Mup18 |
T |
A |
4: 61,590,154 (GRCm39) |
I125F |
possibly damaging |
Het |
Ogdhl |
A |
G |
14: 32,047,842 (GRCm39) |
R31G |
probably benign |
Het |
Or13f5 |
A |
T |
4: 52,825,399 (GRCm39) |
M1L |
probably benign |
Het |
Pcdh1 |
C |
A |
18: 38,330,913 (GRCm39) |
V697L |
probably benign |
Het |
Pcdhga9 |
T |
C |
18: 37,871,553 (GRCm39) |
Y461H |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,667,723 (GRCm39) |
Y625C |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
Poglut2 |
A |
C |
1: 44,149,180 (GRCm39) |
F453V |
probably damaging |
Het |
Ptprn |
T |
A |
1: 75,228,931 (GRCm39) |
D828V |
possibly damaging |
Het |
Rgs12 |
T |
A |
5: 35,177,700 (GRCm39) |
W97R |
probably damaging |
Het |
Rnf10 |
T |
A |
5: 115,386,762 (GRCm39) |
Q508L |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sec24b |
A |
T |
3: 129,834,413 (GRCm39) |
S126T |
possibly damaging |
Het |
Slc6a5 |
A |
G |
7: 49,561,768 (GRCm39) |
N100S |
probably benign |
Het |
Speer1j |
T |
C |
5: 11,553,798 (GRCm39) |
S7P |
probably benign |
Het |
Stam2 |
A |
T |
2: 52,605,716 (GRCm39) |
D167E |
probably benign |
Het |
Stambp |
G |
A |
6: 83,538,960 (GRCm39) |
Q147* |
probably null |
Het |
Tbc1d32 |
A |
G |
10: 56,047,000 (GRCm39) |
V556A |
possibly damaging |
Het |
Tll2 |
T |
C |
19: 41,087,075 (GRCm39) |
D592G |
probably benign |
Het |
Tmem199 |
A |
T |
11: 78,400,508 (GRCm39) |
|
probably benign |
Het |
Traip |
T |
A |
9: 107,847,218 (GRCm39) |
N352K |
probably benign |
Het |
Trmt1l |
C |
T |
1: 151,329,799 (GRCm39) |
Q581* |
probably null |
Het |
Usp54 |
C |
A |
14: 20,600,406 (GRCm39) |
A1444S |
probably benign |
Het |
Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
Xdh |
G |
A |
17: 74,225,389 (GRCm39) |
T471I |
probably damaging |
Het |
Zdhhc19 |
A |
G |
16: 32,316,494 (GRCm39) |
D83G |
probably damaging |
Het |
Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
probably benign |
Het |
Zfp451 |
A |
G |
1: 33,841,752 (GRCm39) |
|
probably benign |
Het |
Zfp963 |
A |
T |
8: 70,195,944 (GRCm39) |
S170T |
probably benign |
Het |
Zfp970 |
A |
G |
2: 177,167,961 (GRCm39) |
I512V |
probably benign |
Het |
Zfp990 |
A |
G |
4: 145,263,616 (GRCm39) |
I205V |
possibly 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 |
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 |
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'- CAAAGCTGCCTTCATGTTGAATG -3'
(R):5'- ACTGTCATCAAGAGACCACG -3'
Sequencing Primer
(F):5'- GCCTTCATGTTGAATGCAGAACTG -3'
(R):5'- GACCACGTCGAAAGTTGTTC -3'
|
Posted On |
2015-10-08 |