Incidental Mutation 'R7046:Egfem1'
| ID |
568387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Egfem1
|
| Ensembl Gene |
ENSMUSG00000063600 |
| Gene Name |
EGF-like and EMI domain containing 1 |
| Synonyms |
6130401L20Rik |
| MMRRC Submission |
045144-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7046 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
29136172-29745358 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 29136364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118531]
[ENSMUST00000119598]
[ENSMUST00000124809]
[ENSMUST00000124809]
[ENSMUST00000146943]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118531
|
| SMART Domains |
Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
30 |
104 |
1.4e-15 |
PFAM |
|
Blast:EGF_like
|
108 |
145 |
7e-10 |
BLAST |
|
EGF
|
150 |
187 |
2.16e1 |
SMART |
|
EGF_CA
|
188 |
228 |
2.66e-10 |
SMART |
|
EGF
|
237 |
274 |
1.08e-1 |
SMART |
|
EGF_like
|
275 |
313 |
9.19e-5 |
SMART |
|
low complexity region
|
317 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
371 |
N/A |
INTRINSIC |
|
EGF
|
391 |
424 |
1.09e1 |
SMART |
|
Blast:EGF_like
|
449 |
481 |
5e-10 |
BLAST |
|
EGF
|
492 |
526 |
2.43e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119598
|
| SMART Domains |
Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:EMI
|
31 |
102 |
1.1e-15 |
PFAM |
|
Blast:EGF_like
|
108 |
145 |
6e-10 |
BLAST |
|
EGF_CA
|
164 |
204 |
1.61e-9 |
SMART |
|
EGF
|
208 |
244 |
6.4e-4 |
SMART |
|
EGF_CA
|
245 |
285 |
1.81e-12 |
SMART |
|
EGF
|
294 |
331 |
1.08e-1 |
SMART |
|
EGF_like
|
332 |
370 |
9.19e-5 |
SMART |
|
low complexity region
|
374 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
428 |
N/A |
INTRINSIC |
|
EGF
|
448 |
481 |
1.09e1 |
SMART |
|
Blast:EGF_like
|
506 |
538 |
5e-10 |
BLAST |
|
EGF
|
549 |
583 |
2.43e1 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124809
|
| SMART Domains |
Protein: ENSMUSP00000114314
Gene: ENSMUSG00000063600
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EMI
|
9 |
83 |
7.7e-17 |
PFAM |
|
Blast:EGF_like
|
87 |
124 |
6e-12 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124809
|
| SMART Domains |
Protein: ENSMUSP00000114314
Gene: ENSMUSG00000063600
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EMI
|
9 |
83 |
7.7e-17 |
PFAM |
|
Blast:EGF_like
|
87 |
124 |
6e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146943
|
| SMART Domains |
Protein: ENSMUSP00000118156
Gene: ENSMUSG00000063600
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EMI
|
17 |
91 |
1.8e-16 |
PFAM |
|
Blast:EGF_like
|
95 |
132 |
2e-11 |
BLAST |
|
EGF
|
137 |
174 |
2.16e1 |
SMART |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,772,364 (GRCm39) |
Y805C |
probably damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,512 (GRCm39) |
D173E |
probably benign |
Het |
| Cabp7 |
T |
A |
11: 4,688,886 (GRCm39) |
I195F |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,835,201 (GRCm39) |
N317S |
probably damaging |
Het |
| Ccdc127 |
T |
G |
13: 74,500,994 (GRCm39) |
L4V |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,774,100 (GRCm39) |
E145G |
probably damaging |
Het |
| Cdh10 |
T |
A |
15: 19,013,287 (GRCm39) |
V629D |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,214,530 (GRCm39) |
L1497R |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,542,875 (GRCm39) |
K671R |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,621,367 (GRCm39) |
Y569C |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,786,696 (GRCm39) |
|
probably benign |
Het |
| Cyp51 |
T |
A |
5: 4,150,188 (GRCm39) |
E178D |
probably damaging |
Het |
| Defa30 |
T |
A |
8: 21,625,471 (GRCm39) |
N78K |
probably benign |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnah14 |
G |
T |
1: 181,450,568 (GRCm39) |
C727F |
probably benign |
Het |
| Egf |
A |
T |
3: 129,548,607 (GRCm39) |
W3R |
unknown |
Het |
| Epb41l1 |
G |
T |
2: 156,368,812 (GRCm39) |
V682L |
possibly damaging |
Het |
| Etv1 |
A |
G |
12: 38,834,369 (GRCm39) |
|
probably null |
Het |
| Faap100 |
A |
G |
11: 120,268,200 (GRCm39) |
F191S |
possibly damaging |
Het |
| Fmo1 |
T |
A |
1: 162,667,263 (GRCm39) |
D184V |
possibly damaging |
Het |
| Ghrl |
A |
G |
6: 113,696,344 (GRCm39) |
L16P |
probably damaging |
Het |
| Gria4 |
T |
A |
9: 4,420,278 (GRCm39) |
L861F |
probably damaging |
Het |
| Gsr |
T |
A |
8: 34,185,090 (GRCm39) |
M428K |
probably damaging |
Het |
| Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
| Kbtbd12 |
A |
G |
6: 88,595,497 (GRCm39) |
M111T |
possibly damaging |
Het |
| Krtap21-1 |
G |
T |
16: 89,200,623 (GRCm39) |
Y6* |
probably null |
Het |
| Lin9 |
A |
G |
1: 180,494,935 (GRCm39) |
D219G |
probably damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,076,739 (GRCm39) |
M1V |
probably null |
Het |
| Macc1 |
T |
G |
12: 119,410,773 (GRCm39) |
F514V |
probably benign |
Het |
| Madcam1 |
C |
T |
10: 79,504,139 (GRCm39) |
R242C |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,131,944 (GRCm39) |
S1037P |
probably benign |
Het |
| Micall2 |
C |
T |
5: 139,694,699 (GRCm39) |
|
probably benign |
Het |
| Mtr |
C |
A |
13: 12,205,095 (GRCm39) |
A1122S |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,456 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,929,662 (GRCm39) |
C529* |
probably null |
Het |
| Napsa |
T |
C |
7: 44,234,509 (GRCm39) |
V247A |
probably damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,135,338 (GRCm39) |
T309A |
probably damaging |
Het |
| Or1e26 |
A |
T |
11: 73,480,558 (GRCm39) |
I2K |
probably benign |
Het |
| Or1q1 |
T |
A |
2: 36,887,173 (GRCm39) |
V117E |
probably benign |
Het |
| Or2n1b |
A |
T |
17: 38,459,691 (GRCm39) |
M71L |
probably benign |
Het |
| Osgepl1 |
A |
T |
1: 53,360,710 (GRCm39) |
I384F |
possibly damaging |
Het |
| Otud4 |
C |
T |
8: 80,377,671 (GRCm39) |
L111F |
possibly damaging |
Het |
| Pds5b |
A |
G |
5: 150,673,385 (GRCm39) |
Y481C |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,668,303 (GRCm39) |
Y818* |
probably null |
Het |
| Pin1rt1 |
T |
C |
2: 104,544,767 (GRCm39) |
S122G |
probably benign |
Het |
| Pkdcc |
A |
T |
17: 83,531,687 (GRCm39) |
Y487F |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,493,440 (GRCm39) |
C392Y |
probably damaging |
Het |
| Psd4 |
T |
G |
2: 24,284,985 (GRCm39) |
M283R |
probably benign |
Het |
| Ralgds |
G |
T |
2: 28,430,741 (GRCm39) |
G68W |
probably damaging |
Het |
| Rmdn2 |
T |
A |
17: 79,928,808 (GRCm39) |
I20N |
probably damaging |
Het |
| Sestd1 |
A |
G |
2: 77,022,910 (GRCm39) |
V486A |
probably benign |
Het |
| Skic8 |
T |
A |
9: 54,626,539 (GRCm39) |
D275V |
probably damaging |
Het |
| Spmap2 |
G |
T |
10: 79,422,796 (GRCm39) |
D35E |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,533,748 (GRCm39) |
H958R |
possibly damaging |
Het |
| Taok3 |
C |
T |
5: 117,411,771 (GRCm39) |
R857C |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,194,392 (GRCm39) |
L1197F |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,832,137 (GRCm39) |
E1245G |
probably damaging |
Het |
| Usp19 |
C |
T |
9: 108,374,334 (GRCm39) |
H763Y |
possibly damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,310,651 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn1r45 |
T |
G |
6: 89,910,538 (GRCm39) |
Y144S |
probably benign |
Het |
| Vwa3b |
G |
A |
1: 37,212,959 (GRCm39) |
E152K |
probably benign |
Het |
| Xrcc5 |
G |
A |
1: 72,433,875 (GRCm39) |
M731I |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,787 (GRCm39) |
S939N |
possibly damaging |
Het |
| Zfp874a |
C |
A |
13: 67,590,418 (GRCm39) |
C422F |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,808,719 (GRCm39) |
D637G |
possibly damaging |
Het |
|
| Other mutations in Egfem1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Egfem1
|
APN |
3 |
29,711,302 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02111:Egfem1
|
APN |
3 |
29,705,045 (GRCm39) |
splice site |
probably null |
|
|
IGL02325:Egfem1
|
APN |
3 |
29,206,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02450:Egfem1
|
APN |
3 |
29,711,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02543:Egfem1
|
APN |
3 |
29,722,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02835:Egfem1
|
UTSW |
3 |
29,711,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0033:Egfem1
|
UTSW |
3 |
29,744,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Egfem1
|
UTSW |
3 |
29,637,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0294:Egfem1
|
UTSW |
3 |
29,744,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Egfem1
|
UTSW |
3 |
29,722,399 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1479:Egfem1
|
UTSW |
3 |
29,711,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Egfem1
|
UTSW |
3 |
29,702,420 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1754:Egfem1
|
UTSW |
3 |
29,722,482 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2568:Egfem1
|
UTSW |
3 |
29,637,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Egfem1
|
UTSW |
3 |
29,724,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3411:Egfem1
|
UTSW |
3 |
29,637,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Egfem1
|
UTSW |
3 |
29,206,075 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4049:Egfem1
|
UTSW |
3 |
29,740,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4851:Egfem1
|
UTSW |
3 |
29,206,032 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4917:Egfem1
|
UTSW |
3 |
29,206,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Egfem1
|
UTSW |
3 |
29,206,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Egfem1
|
UTSW |
3 |
29,637,145 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4997:Egfem1
|
UTSW |
3 |
29,207,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5148:Egfem1
|
UTSW |
3 |
29,511,972 (GRCm39) |
intron |
probably benign |
|
|
R5194:Egfem1
|
UTSW |
3 |
29,411,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5284:Egfem1
|
UTSW |
3 |
29,704,936 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5354:Egfem1
|
UTSW |
3 |
29,136,361 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5627:Egfem1
|
UTSW |
3 |
29,722,548 (GRCm39) |
nonsense |
probably null |
|
|
R5677:Egfem1
|
UTSW |
3 |
29,744,323 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5928:Egfem1
|
UTSW |
3 |
29,637,077 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5982:Egfem1
|
UTSW |
3 |
29,711,419 (GRCm39) |
splice site |
probably null |
|
|
R6419:Egfem1
|
UTSW |
3 |
29,711,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Egfem1
|
UTSW |
3 |
29,711,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6586:Egfem1
|
UTSW |
3 |
29,716,560 (GRCm39) |
nonsense |
probably null |
|
|
R7079:Egfem1
|
UTSW |
3 |
29,207,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7308:Egfem1
|
UTSW |
3 |
29,206,015 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7362:Egfem1
|
UTSW |
3 |
29,206,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7684:Egfem1
|
UTSW |
3 |
29,744,334 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7697:Egfem1
|
UTSW |
3 |
29,744,346 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7814:Egfem1
|
UTSW |
3 |
29,740,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Egfem1
|
UTSW |
3 |
29,711,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8429:Egfem1
|
UTSW |
3 |
29,711,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8928:Egfem1
|
UTSW |
3 |
29,744,561 (GRCm39) |
makesense |
probably null |
|
|
R9210:Egfem1
|
UTSW |
3 |
29,207,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Egfem1
|
UTSW |
3 |
29,411,317 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9230:Egfem1
|
UTSW |
3 |
29,411,317 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9720:Egfem1
|
UTSW |
3 |
29,716,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Egfem1
|
UTSW |
3 |
29,716,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Egfem1
|
UTSW |
3 |
29,711,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Egfem1
|
UTSW |
3 |
29,202,602 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGACTCGGTCAATTGCAG -3'
(R):5'- GAGCGCTTAAAGAGACAGCC -3'
Sequencing Primer
(F):5'- GACTCGGTCAATTGCAGTTCCTTTC -3'
(R):5'- TTAAAGAGACAGCCCCCTTGG -3'
|
| Posted On |
2019-07-16 |
Incidental Mutation