Incidental Mutation 'R5398:Egfl8'
| ID |
429820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Egfl8
|
| Ensembl Gene |
ENSMUSG00000015467 |
| Gene Name |
EGF-like domain 8 |
| Synonyms |
NG3 |
| MMRRC Submission |
042969-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5398 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34832323-34834945 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 34833613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015611]
[ENSMUST00000037489]
[ENSMUST00000064953]
[ENSMUST00000097345]
[ENSMUST00000114140]
[ENSMUST00000166040]
[ENSMUST00000171376]
[ENSMUST00000174041]
[ENSMUST00000168391]
[ENSMUST00000174228]
[ENSMUST00000173242]
[ENSMUST00000169067]
[ENSMUST00000168353]
[ENSMUST00000171121]
[ENSMUST00000173973]
[ENSMUST00000174595]
|
| AlphaFold |
Q6GUQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015611
|
| SMART Domains |
Protein: ENSMUSP00000015611
Gene: ENSMUSG00000015467
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
36 |
102 |
4.3e-20 |
PFAM |
|
EGF
|
113 |
142 |
5.49e-3 |
SMART |
|
EGF_CA
|
144 |
184 |
2.58e-8 |
SMART |
|
coiled coil region
|
206 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037489
|
| SMART Domains |
Protein: ENSMUSP00000048573
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
210 |
4.64e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064953
|
| SMART Domains |
Protein: ENSMUSP00000068071
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
297 |
2.2e-19 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
273 |
2.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097345
|
| SMART Domains |
Protein: ENSMUSP00000094958
Gene: ENSMUSG00000015467
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
34 |
104 |
3e-16 |
PFAM |
|
EGF
|
113 |
142 |
5.49e-3 |
SMART |
|
EGF_CA
|
144 |
184 |
2.58e-8 |
SMART |
|
coiled coil region
|
206 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114140
|
| SMART Domains |
Protein: ENSMUSP00000109776
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
210 |
4.64e-42 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166040
|
| SMART Domains |
Protein: ENSMUSP00000132006
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
289 |
9e-19 |
PFAM |
|
Pfam:Abhydrolase_1
|
37 |
173 |
9e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168709
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168327
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171376
|
| SMART Domains |
Protein: ENSMUSP00000131243
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
297 |
2.2e-19 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
273 |
2.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174041
|
| SMART Domains |
Protein: ENSMUSP00000133441
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
198 |
6.63e-29 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168391
|
| SMART Domains |
Protein: ENSMUSP00000132339
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
297 |
2.2e-19 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
273 |
2.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174228
|
| SMART Domains |
Protein: ENSMUSP00000133876
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173242
|
| SMART Domains |
Protein: ENSMUSP00000134242
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
Pfam:Acyltransferase
|
80 |
149 |
1.2e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169067
|
| SMART Domains |
Protein: ENSMUSP00000127372
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
297 |
2.2e-19 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
273 |
2.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169969
|
| SMART Domains |
Protein: ENSMUSP00000127726
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
Pfam:Abhydrolase_1
|
18 |
139 |
9e-8 |
PFAM |
|
Pfam:Palm_thioest
|
116 |
234 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168353
|
| SMART Domains |
Protein: ENSMUSP00000128433
Gene: ENSMUSG00000015467
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
34 |
104 |
7.4e-16 |
PFAM |
|
EGF
|
113 |
142 |
5.49e-3 |
SMART |
|
EGF_CA
|
144 |
184 |
2.58e-8 |
SMART |
|
coiled coil region
|
206 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171121
|
| SMART Domains |
Protein: ENSMUSP00000127745
Gene: ENSMUSG00000015474
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
34 |
297 |
2.2e-19 |
PFAM |
|
Pfam:Abhydrolase_6
|
39 |
273 |
2.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173973
|
| SMART Domains |
Protein: ENSMUSP00000133947
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
transmembrane domain
|
35 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174595
|
| SMART Domains |
Protein: ENSMUSP00000134358
Gene: ENSMUSG00000034254
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
|
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
71 |
N/A |
INTRINSIC |
|
PlsC
|
95 |
210 |
4.64e-42 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| Validation Efficiency |
95% (59/62) |
| MGI Phenotype |
PHENOTYPE: Homozygous null mice show no notable phenotype in a high-throughput phenotype screen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
G |
8: 25,362,595 (GRCm39) |
L34P |
possibly damaging |
Het |
| Adam34 |
A |
C |
8: 44,104,278 (GRCm39) |
C456G |
probably damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,365,533 (GRCm39) |
D407G |
probably damaging |
Het |
| Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
| Chac1 |
T |
G |
2: 119,183,725 (GRCm39) |
L109R |
possibly damaging |
Het |
| Csf2rb |
A |
G |
15: 78,232,820 (GRCm39) |
D709G |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,115,724 (GRCm39) |
D112E |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,293,872 (GRCm39) |
K1326E |
probably benign |
Het |
| Dnajc3 |
T |
A |
14: 119,209,799 (GRCm39) |
Y291* |
probably null |
Het |
| Dsg2 |
T |
C |
18: 20,712,190 (GRCm39) |
F109L |
probably benign |
Het |
| Emb |
T |
A |
13: 117,404,088 (GRCm39) |
I280N |
probably damaging |
Het |
| Gcc2 |
C |
A |
10: 58,105,329 (GRCm39) |
N188K |
probably benign |
Het |
| Gdpd4 |
A |
T |
7: 97,621,185 (GRCm39) |
H166L |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Itga11 |
A |
G |
9: 62,653,205 (GRCm39) |
T360A |
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,322 (GRCm39) |
S434P |
possibly damaging |
Het |
| Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
| Kif24 |
T |
C |
4: 41,394,401 (GRCm39) |
E824G |
possibly damaging |
Het |
| Lekr1 |
T |
A |
3: 65,688,807 (GRCm39) |
|
noncoding transcript |
Het |
| Ociad1 |
T |
A |
5: 73,467,755 (GRCm39) |
V231E |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or1l4 |
C |
A |
2: 37,091,330 (GRCm39) |
Q26K |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,207 (GRCm39) |
L386P |
probably damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,687 (GRCm39) |
K255E |
possibly damaging |
Het |
| Pex5l |
T |
A |
3: 33,006,639 (GRCm39) |
I577F |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,922,786 (GRCm39) |
M235T |
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,894,057 (GRCm39) |
I171F |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,769,512 (GRCm39) |
Y451C |
probably damaging |
Het |
| Ranbp17 |
A |
T |
11: 33,424,998 (GRCm39) |
Y453N |
probably damaging |
Het |
| Rgs16 |
C |
T |
1: 153,616,246 (GRCm39) |
T11I |
probably benign |
Het |
| Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,318,387 (GRCm39) |
Y1479C |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,536,304 (GRCm39) |
T294A |
probably damaging |
Het |
| Slc39a6 |
A |
T |
18: 24,730,936 (GRCm39) |
I61N |
probably damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Spink12 |
A |
G |
18: 44,240,794 (GRCm39) |
D60G |
possibly damaging |
Het |
| Sppl2a |
T |
C |
2: 126,761,638 (GRCm39) |
I289V |
probably benign |
Het |
| Srebf2 |
A |
G |
15: 82,055,443 (GRCm39) |
T176A |
probably damaging |
Het |
| Syce1l |
T |
C |
8: 114,379,145 (GRCm39) |
L91S |
probably damaging |
Het |
| Tchhl1 |
T |
C |
3: 93,378,910 (GRCm39) |
I538T |
probably benign |
Het |
| Tcte1 |
C |
T |
17: 45,850,752 (GRCm39) |
Q343* |
probably null |
Het |
| Tdpoz2 |
T |
G |
3: 93,559,441 (GRCm39) |
D177A |
probably damaging |
Het |
| Thada |
T |
G |
17: 84,733,614 (GRCm39) |
D1011A |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,975,092 (GRCm39) |
M112L |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,835,447 (GRCm39) |
E325G |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,305,998 (GRCm39) |
|
probably benign |
Het |
| Vmn2r111 |
C |
A |
17: 22,792,252 (GRCm39) |
M1I |
probably null |
Het |
| Wdr11 |
C |
T |
7: 129,232,956 (GRCm39) |
T996M |
probably damaging |
Het |
|
| Other mutations in Egfl8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01746:Egfl8
|
APN |
17 |
34,833,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Egfl8
|
UTSW |
17 |
34,833,342 (GRCm39) |
splice site |
probably null |
|
|
R0453:Egfl8
|
UTSW |
17 |
34,833,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2268:Egfl8
|
UTSW |
17 |
34,832,832 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2269:Egfl8
|
UTSW |
17 |
34,832,832 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4923:Egfl8
|
UTSW |
17 |
34,833,171 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8542:Egfl8
|
UTSW |
17 |
34,833,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8921:Egfl8
|
UTSW |
17 |
34,833,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9103:Egfl8
|
UTSW |
17 |
34,833,210 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9249:Egfl8
|
UTSW |
17 |
34,833,491 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1088:Egfl8
|
UTSW |
17 |
34,833,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGCATTCATCGACATCTAG -3'
(R):5'- ACAGATATGAGCCTGCTTCTG -3'
Sequencing Primer
(F):5'- GCATTCATCGACATCTAGTTACCAG -3'
(R):5'- GTGTTCTAGGACCACATACCGTG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation