Incidental Mutation 'R1626:Egf'
| ID |
172483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Egf
|
| Ensembl Gene |
ENSMUSG00000028017 |
| Gene Name |
epidermal growth factor |
| Synonyms |
|
| MMRRC Submission |
039663-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1626 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
129471223-129548971 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129479864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 553
(V553D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143075
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029653]
[ENSMUST00000197079]
[ENSMUST00000199615]
|
| AlphaFold |
P01132 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029653
AA Change: V1054D
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029653
Gene: ENSMUSG00000028017
AA Change: V1054D
| 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: ENSMUST00000174960
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197079
AA Change: V553D
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143075
Gene: ENSMUSG00000028017
AA Change: V553D
| 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: ENSMUST00000197250
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199615
AA Change: V512D
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142497
Gene: ENSMUSG00000028017
AA Change: V512D
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
T |
C |
10: 21,497,571 (GRCm39) |
Y71H |
possibly damaging |
Het |
| Acsl6 |
C |
A |
11: 54,242,872 (GRCm39) |
P628T |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,734,807 (GRCm39) |
D591G |
probably benign |
Het |
| Anxa5 |
T |
C |
3: 36,516,130 (GRCm39) |
D66G |
probably damaging |
Het |
| Cacna1b |
G |
A |
2: 24,496,721 (GRCm39) |
T2283I |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,045,919 (GRCm39) |
D995E |
possibly damaging |
Het |
| Cblc |
G |
T |
7: 19,530,427 (GRCm39) |
A94E |
probably damaging |
Het |
| Cd48 |
G |
A |
1: 171,509,687 (GRCm39) |
C9Y |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,721,224 (GRCm39) |
K1004R |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,057,919 (GRCm39) |
Y156C |
probably damaging |
Het |
| Cldn1 |
T |
C |
16: 26,190,202 (GRCm39) |
T59A |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,925,218 (GRCm39) |
G17D |
probably damaging |
Het |
| Cpeb1 |
A |
G |
7: 81,085,995 (GRCm39) |
V49A |
probably damaging |
Het |
| Cyp4b1 |
G |
T |
4: 115,498,855 (GRCm39) |
P109Q |
probably damaging |
Het |
| Dhrs7b |
T |
A |
11: 60,735,082 (GRCm39) |
F23I |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,976,093 (GRCm39) |
A1319S |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,183,199 (GRCm39) |
D1760G |
probably damaging |
Het |
| Fbxo31 |
A |
G |
8: 122,286,745 (GRCm39) |
F178L |
probably damaging |
Het |
| Fstl4 |
C |
A |
11: 52,891,117 (GRCm39) |
S85* |
probably null |
Het |
| Gfm1 |
A |
G |
3: 67,345,977 (GRCm39) |
Y225C |
probably damaging |
Het |
| Gm10797 |
A |
T |
10: 67,408,453 (GRCm39) |
|
noncoding transcript |
Het |
| H3c8 |
G |
A |
13: 23,719,721 (GRCm39) |
V36M |
probably damaging |
Het |
| Heatr4 |
T |
A |
12: 84,020,495 (GRCm39) |
I499L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,896,705 (GRCm39) |
M1287K |
probably benign |
Het |
| Inpp5b |
C |
A |
4: 124,677,696 (GRCm39) |
D385E |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,542,435 (GRCm39) |
|
probably null |
Het |
| Ltb4r1 |
A |
G |
14: 56,004,699 (GRCm39) |
M1V |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,365,327 (GRCm39) |
I3145V |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,017,450 (GRCm39) |
N277S |
probably damaging |
Het |
| Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
| Mgat4e |
A |
G |
1: 134,469,016 (GRCm39) |
Y343H |
probably benign |
Het |
| Noxred1 |
T |
C |
12: 87,268,029 (GRCm39) |
*367W |
probably null |
Het |
| Nup58 |
A |
T |
14: 60,480,076 (GRCm39) |
L190* |
probably null |
Het |
| Olfml2a |
G |
T |
2: 38,841,275 (GRCm39) |
K270N |
probably damaging |
Het |
| Or5c1 |
A |
G |
2: 37,222,774 (GRCm39) |
|
probably null |
Het |
| Or7g32 |
A |
G |
9: 19,389,495 (GRCm39) |
L14P |
probably damaging |
Het |
| Phgdh |
G |
T |
3: 98,223,725 (GRCm39) |
Q359K |
probably benign |
Het |
| Plpp5 |
G |
T |
8: 26,212,604 (GRCm39) |
C200F |
possibly damaging |
Het |
| Pole |
A |
C |
5: 110,441,235 (GRCm39) |
I230L |
probably benign |
Het |
| Prtg |
A |
T |
9: 72,752,193 (GRCm39) |
D193V |
probably damaging |
Het |
| Ptgs2 |
G |
A |
1: 149,979,619 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
T |
6: 23,001,573 (GRCm39) |
Q1221L |
probably benign |
Het |
| Rufy2 |
T |
C |
10: 62,831,151 (GRCm39) |
I204T |
probably benign |
Het |
| Rybp |
A |
G |
6: 100,209,919 (GRCm39) |
S115P |
possibly damaging |
Het |
| Samd13 |
A |
G |
3: 146,368,481 (GRCm39) |
V37A |
probably benign |
Het |
| Secisbp2l |
T |
G |
2: 125,617,606 (GRCm39) |
K24Q |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,222,891 (GRCm39) |
Y198C |
probably damaging |
Het |
| Svil |
T |
G |
18: 5,117,099 (GRCm39) |
|
probably null |
Het |
| Ttc24 |
G |
T |
3: 87,977,366 (GRCm39) |
R127S |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,588,888 (GRCm39) |
V21394M |
probably damaging |
Het |
| Tubal3 |
G |
T |
13: 3,982,841 (GRCm39) |
C207F |
probably damaging |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,443 (GRCm39) |
D550V |
probably damaging |
Het |
| Vmn2r2 |
T |
A |
3: 64,041,921 (GRCm39) |
I265F |
possibly damaging |
Het |
| Zfp507 |
T |
C |
7: 35,494,858 (GRCm39) |
K62E |
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 |
|
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 |
|
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'- TCTGATGTGAGGATGCAGCACAC -3'
(R):5'- AGTTTGTAAGAATCGGGCACTGGG -3'
Sequencing Primer
(F):5'- CGGAGGACCACAGATCTTAC -3'
(R):5'- GGGCCTCTGCTTGACCTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation