Incidental Mutation 'R6475:Egfem1'
| ID |
517360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Egfem1
|
| Ensembl Gene |
ENSMUSG00000063600 |
| Gene Name |
EGF-like and EMI domain containing 1 |
| Synonyms |
6130401L20Rik |
| MMRRC Submission |
044608-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6475 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
29136172-29745358 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29711312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 297
(K297M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118531]
[ENSMUST00000119598]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118531
AA Change: K240M
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: K240M
| 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 damaging
Transcript: ENSMUST00000119598
AA Change: K297M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: K297M
| 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 |
noncoding transcript
Transcript: ENSMUST00000126420
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140288
AA Change: K87M
|
| SMART Domains |
Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600
AA Change: K87M
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_like
|
5 |
35 |
4.32e-1 |
SMART |
|
EGF_CA
|
36 |
76 |
2.66e-10 |
SMART |
|
EGF
|
85 |
122 |
1.08e-1 |
SMART |
|
low complexity region
|
124 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
EGF
|
198 |
231 |
1.09e1 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb5 |
T |
A |
8: 55,003,610 (GRCm39) |
V44E |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
| Ccr4 |
A |
G |
9: 114,322,047 (GRCm39) |
V6A |
probably benign |
Het |
| Cd209a |
A |
T |
8: 3,797,031 (GRCm39) |
D102E |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,227,022 (GRCm39) |
D161G |
possibly damaging |
Het |
| Cog4 |
T |
A |
8: 111,607,526 (GRCm39) |
I671N |
possibly damaging |
Het |
| Col14a1 |
T |
G |
15: 55,309,218 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
A |
G |
14: 55,751,110 (GRCm39) |
D173G |
probably damaging |
Het |
| Daglb |
G |
T |
5: 143,467,406 (GRCm39) |
V275L |
probably benign |
Het |
| Defb43 |
G |
T |
14: 63,249,321 (GRCm39) |
|
probably null |
Het |
| Dhx30 |
A |
G |
9: 109,914,120 (GRCm39) |
V1022A |
possibly damaging |
Het |
| Egfr |
A |
G |
11: 16,841,259 (GRCm39) |
I717V |
probably benign |
Het |
| Eif2ak1 |
T |
G |
5: 143,803,765 (GRCm39) |
|
probably null |
Het |
| Epb42 |
T |
C |
2: 120,857,614 (GRCm39) |
Y307C |
possibly damaging |
Het |
| Erlec1 |
G |
A |
11: 30,898,442 (GRCm39) |
Q10* |
probably null |
Het |
| Fam185a |
A |
G |
5: 21,630,281 (GRCm39) |
D39G |
probably benign |
Het |
| Fbxl4 |
T |
A |
4: 22,433,661 (GRCm39) |
D599E |
probably damaging |
Het |
| Fgfr2 |
T |
A |
7: 129,802,850 (GRCm39) |
T268S |
probably benign |
Het |
| Gabra1 |
A |
T |
11: 42,053,382 (GRCm39) |
M84K |
probably benign |
Het |
| Gba1 |
A |
G |
3: 89,113,235 (GRCm39) |
D222G |
probably benign |
Het |
| Gm3409 |
T |
A |
5: 146,474,596 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Gm4559 |
A |
G |
7: 141,827,887 (GRCm39) |
C72R |
unknown |
Het |
| Grik4 |
T |
C |
9: 42,540,304 (GRCm39) |
N292S |
probably benign |
Het |
| Haao |
A |
G |
17: 84,139,113 (GRCm39) |
S274P |
possibly damaging |
Het |
| Hsd17b4 |
T |
A |
18: 50,305,329 (GRCm39) |
|
probably null |
Het |
| Igdcc4 |
A |
T |
9: 65,027,603 (GRCm39) |
S222C |
probably damaging |
Het |
| Iqub |
T |
A |
6: 24,449,744 (GRCm39) |
N707I |
probably damaging |
Het |
| Itgb7 |
T |
A |
15: 102,124,701 (GRCm39) |
D772V |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,455,149 (GRCm39) |
L1607P |
probably damaging |
Het |
| Klf5 |
A |
G |
14: 99,538,817 (GRCm39) |
T77A |
probably benign |
Het |
| Klhl29 |
C |
T |
12: 5,141,030 (GRCm39) |
V605I |
probably damaging |
Het |
| Map4k1 |
T |
C |
7: 28,686,447 (GRCm39) |
V105A |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,850,092 (GRCm39) |
|
probably null |
Het |
| Med12l |
A |
G |
3: 59,164,500 (GRCm39) |
E1364G |
probably damaging |
Het |
| Mup9 |
A |
T |
4: 60,375,805 (GRCm39) |
D30E |
possibly damaging |
Het |
| Naip1 |
T |
C |
13: 100,545,596 (GRCm39) |
R1311G |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,604 (GRCm39) |
V140A |
probably benign |
Het |
| Or2v1 |
C |
T |
11: 49,025,760 (GRCm39) |
T247I |
probably benign |
Het |
| Or4f14 |
G |
A |
2: 111,743,204 (GRCm39) |
Q24* |
probably null |
Het |
| Or8g28 |
T |
A |
9: 39,169,378 (GRCm39) |
M197L |
probably benign |
Het |
| Pkd1l3 |
A |
C |
8: 110,349,844 (GRCm39) |
T230P |
unknown |
Het |
| Pthlh |
G |
T |
6: 147,158,688 (GRCm39) |
H91N |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,681,942 (GRCm39) |
V239D |
probably damaging |
Het |
| Rita1 |
G |
A |
5: 120,749,635 (GRCm39) |
T26I |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,334,586 (GRCm39) |
T615A |
probably damaging |
Het |
| Rpp38 |
T |
C |
2: 3,330,644 (GRCm39) |
D86G |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,533,129 (GRCm39) |
T539A |
probably damaging |
Het |
| Senp2 |
G |
T |
16: 21,842,550 (GRCm39) |
V205L |
probably damaging |
Het |
| Septin10 |
T |
C |
10: 59,028,133 (GRCm39) |
N63D |
possibly damaging |
Het |
| Sez6 |
A |
G |
11: 77,864,670 (GRCm39) |
|
|
Het |
| Spesp1 |
C |
T |
9: 62,179,715 (GRCm39) |
V398I |
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,714,319 (GRCm39) |
G19S |
probably benign |
Het |
| Tnni3k |
A |
T |
3: 154,646,695 (GRCm39) |
L431* |
probably null |
Het |
| Trdn |
T |
A |
10: 33,340,551 (GRCm39) |
|
probably null |
Het |
| Tubb2a |
A |
G |
13: 34,259,442 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ush1c |
T |
C |
7: 45,878,643 (GRCm39) |
D124G |
probably damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,827 (GRCm39) |
F103L |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,820 (GRCm39) |
S149P |
probably 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 |
|
R6586:Egfem1
|
UTSW |
3 |
29,716,560 (GRCm39) |
nonsense |
probably null |
|
|
R7046:Egfem1
|
UTSW |
3 |
29,136,364 (GRCm39) |
splice site |
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'- TACTCATGACTTGAAACACCTCTG -3'
(R):5'- AAAAGCACCTCTCAGTCTGAG -3'
Sequencing Primer
(F):5'- TGACTTGAAACACCTCTGAATTTTAC -3'
(R):5'- TGTGGCTCACGATGTAACAATG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation