Incidental Mutation 'R2568:Egfem1'
| ID |
254611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Egfem1
|
| Ensembl Gene |
ENSMUSG00000063600 |
| Gene Name |
EGF-like and EMI domain containing 1 |
| Synonyms |
6130401L20Rik |
| MMRRC Submission |
040427-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
29082023-29691209 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29582931 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 172
(N172I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118531]
[ENSMUST00000119598]
[ENSMUST00000146943]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118531
AA Change: N196I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000112907
Gene: ENSMUSG00000063600
AA Change: N196I
| 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: N172I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112943
Gene: ENSMUSG00000063600
AA Change: N172I
| 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: N43I
|
| SMART Domains |
Protein: ENSMUSP00000117016
Gene: ENSMUSG00000063600
AA Change: N43I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143483
|
| SMART Domains |
Protein: ENSMUSP00000114146
Gene: ENSMUSG00000063600
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
22 |
59 |
2.16e1 |
SMART |
|
EGF_CA
|
60 |
100 |
2.66e-10 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
C |
15: 8,201,269 (GRCm38) |
V1010A |
possibly damaging |
Het |
| 4930563D23Rik |
A |
G |
16: 92,321,319 (GRCm38) |
L27P |
probably damaging |
Het |
| A730071L15Rik |
A |
T |
11: 6,200,161 (GRCm38) |
|
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,333,310 (GRCm38) |
N3244I |
probably benign |
Het |
| Adgrf5 |
A |
G |
17: 43,437,671 (GRCm38) |
T219A |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 94,934,021 (GRCm38) |
N92I |
probably damaging |
Het |
| Agt |
A |
C |
8: 124,556,955 (GRCm38) |
V475G |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 52,887,278 (GRCm38) |
K518E |
possibly damaging |
Het |
| Apoh |
T |
G |
11: 108,404,871 (GRCm38) |
D133E |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,392,749 (GRCm38) |
M234L |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 30,082,511 (GRCm38) |
I1335T |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 122,862,024 (GRCm38) |
R279Q |
probably damaging |
Het |
| Cfap206 |
T |
A |
4: 34,711,566 (GRCm38) |
K444* |
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,878,764 (GRCm38) |
I614M |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 106,063,076 (GRCm38) |
D1218E |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,741,236 (GRCm38) |
|
probably null |
Het |
| D130043K22Rik |
C |
T |
13: 24,883,891 (GRCm38) |
T870M |
probably damaging |
Het |
| Dagla |
C |
A |
19: 10,248,152 (GRCm38) |
A883S |
probably benign |
Het |
| Dhx30 |
A |
G |
9: 110,097,195 (GRCm38) |
V87A |
probably damaging |
Het |
| Dtx1 |
C |
A |
5: 120,710,184 (GRCm38) |
V44L |
possibly damaging |
Het |
| Ecm2 |
T |
A |
13: 49,530,129 (GRCm38) |
S528T |
possibly damaging |
Het |
| Fam102b |
T |
A |
3: 108,978,848 (GRCm38) |
N356I |
probably benign |
Het |
| Fam13a |
T |
G |
6: 58,935,609 (GRCm38) |
R686S |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,836,259 (GRCm38) |
I234L |
probably benign |
Het |
| Foxj2 |
C |
T |
6: 122,828,372 (GRCm38) |
R68W |
probably damaging |
Het |
| Foxo6 |
A |
T |
4: 120,268,764 (GRCm38) |
M278K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,990,431 (GRCm38) |
S5503G |
probably benign |
Het |
| Gdf5 |
C |
G |
2: 155,942,090 (GRCm38) |
R100G |
probably benign |
Het |
| Il1b |
A |
T |
2: 129,367,322 (GRCm38) |
D129E |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,091,350 (GRCm38) |
S545P |
probably damaging |
Het |
| Krt83 |
G |
T |
15: 101,487,827 (GRCm38) |
R296S |
possibly damaging |
Het |
| Llgl1 |
T |
G |
11: 60,708,812 (GRCm38) |
S509R |
probably damaging |
Het |
| Lmod1 |
A |
T |
1: 135,363,964 (GRCm38) |
K186* |
probably null |
Het |
| Lrpprc |
C |
T |
17: 84,726,649 (GRCm38) |
A973T |
probably damaging |
Het |
| Marco |
T |
C |
1: 120,494,785 (GRCm38) |
H49R |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,722,018 (GRCm38) |
N394S |
probably null |
Het |
| Myo5a |
A |
G |
9: 75,123,040 (GRCm38) |
Y147C |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,151,897 (GRCm38) |
V469A |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,337,216 (GRCm38) |
T87A |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,597,564 (GRCm38) |
H2154R |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 14,999,112 (GRCm38) |
E1037G |
possibly damaging |
Het |
| Olfr181 |
A |
G |
16: 58,925,923 (GRCm38) |
V216A |
probably benign |
Het |
| Olfr341 |
T |
C |
2: 36,479,974 (GRCm38) |
D52G |
probably damaging |
Het |
| Olfr677 |
A |
G |
7: 105,056,671 (GRCm38) |
T142A |
probably benign |
Het |
| Pitrm1 |
G |
T |
13: 6,575,092 (GRCm38) |
V869F |
probably benign |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,937,781 (GRCm38) |
|
probably benign |
Het |
| Prdx1 |
T |
G |
4: 116,693,800 (GRCm38) |
I156S |
probably benign |
Het |
| Rbks |
T |
A |
5: 31,665,752 (GRCm38) |
T107S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,675,874 (GRCm38) |
R3468W |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,273,469 (GRCm38) |
D1805N |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,615,648 (GRCm38) |
V214A |
probably benign |
Het |
| Slc35c1 |
T |
C |
2: 92,458,880 (GRCm38) |
N94D |
probably benign |
Het |
| Sorbs2 |
A |
T |
8: 45,795,370 (GRCm38) |
K553* |
probably null |
Het |
| Tectb |
C |
G |
19: 55,180,999 (GRCm38) |
|
probably benign |
Het |
| Thg1l |
A |
G |
11: 45,951,565 (GRCm38) |
V142A |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,553,130 (GRCm38) |
Y513* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,772,820 (GRCm38) |
V522A |
probably benign |
Het |
| Trim39 |
T |
A |
17: 36,269,164 (GRCm38) |
|
probably benign |
Het |
| Trrap |
G |
A |
5: 144,843,369 (GRCm38) |
|
probably null |
Het |
| Tulp3 |
C |
T |
6: 128,327,638 (GRCm38) |
V218I |
probably benign |
Het |
| Vmn1r38 |
T |
A |
6: 66,776,971 (GRCm38) |
I54F |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,742,188 (GRCm38) |
Y833* |
probably null |
Het |
| Zfp810 |
A |
T |
9: 22,279,238 (GRCm38) |
S125T |
probably benign |
Het |
|
| Other mutations in Egfem1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Egfem1
|
APN |
3 |
29,657,153 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
IGL02111:Egfem1
|
APN |
3 |
29,650,896 (GRCm38) |
splice site |
probably null |
|
|
IGL02325:Egfem1
|
APN |
3 |
29,151,917 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02450:Egfem1
|
APN |
3 |
29,657,268 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02543:Egfem1
|
APN |
3 |
29,668,380 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02835:Egfem1
|
UTSW |
3 |
29,657,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
P0033:Egfem1
|
UTSW |
3 |
29,690,191 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0010:Egfem1
|
UTSW |
3 |
29,582,919 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0294:Egfem1
|
UTSW |
3 |
29,690,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0379:Egfem1
|
UTSW |
3 |
29,668,250 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1479:Egfem1
|
UTSW |
3 |
29,657,165 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1572:Egfem1
|
UTSW |
3 |
29,648,271 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1754:Egfem1
|
UTSW |
3 |
29,668,333 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R2679:Egfem1
|
UTSW |
3 |
29,670,676 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3411:Egfem1
|
UTSW |
3 |
29,583,021 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3801:Egfem1
|
UTSW |
3 |
29,151,926 (GRCm38) |
missense |
probably benign |
0.14 |
|
R4049:Egfem1
|
UTSW |
3 |
29,686,731 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4851:Egfem1
|
UTSW |
3 |
29,151,883 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4917:Egfem1
|
UTSW |
3 |
29,151,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4918:Egfem1
|
UTSW |
3 |
29,151,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4969:Egfem1
|
UTSW |
3 |
29,582,996 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4997:Egfem1
|
UTSW |
3 |
29,153,590 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5148:Egfem1
|
UTSW |
3 |
29,457,823 (GRCm38) |
intron |
probably benign |
|
|
R5194:Egfem1
|
UTSW |
3 |
29,357,196 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5284:Egfem1
|
UTSW |
3 |
29,650,787 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5354:Egfem1
|
UTSW |
3 |
29,082,212 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5627:Egfem1
|
UTSW |
3 |
29,668,399 (GRCm38) |
nonsense |
probably null |
|
|
R5677:Egfem1
|
UTSW |
3 |
29,690,174 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5928:Egfem1
|
UTSW |
3 |
29,582,928 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5982:Egfem1
|
UTSW |
3 |
29,657,270 (GRCm38) |
splice site |
probably null |
|
|
R6419:Egfem1
|
UTSW |
3 |
29,657,249 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6475:Egfem1
|
UTSW |
3 |
29,657,163 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6586:Egfem1
|
UTSW |
3 |
29,662,411 (GRCm38) |
nonsense |
probably null |
|
|
R7046:Egfem1
|
UTSW |
3 |
29,082,215 (GRCm38) |
splice site |
probably null |
|
|
R7079:Egfem1
|
UTSW |
3 |
29,153,582 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7308:Egfem1
|
UTSW |
3 |
29,151,866 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7362:Egfem1
|
UTSW |
3 |
29,151,920 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7684:Egfem1
|
UTSW |
3 |
29,690,185 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7697:Egfem1
|
UTSW |
3 |
29,690,197 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7814:Egfem1
|
UTSW |
3 |
29,686,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8226:Egfem1
|
UTSW |
3 |
29,657,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8429:Egfem1
|
UTSW |
3 |
29,657,268 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8928:Egfem1
|
UTSW |
3 |
29,690,412 (GRCm38) |
makesense |
probably null |
|
|
R9210:Egfem1
|
UTSW |
3 |
29,153,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9227:Egfem1
|
UTSW |
3 |
29,357,168 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9230:Egfem1
|
UTSW |
3 |
29,357,168 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9720:Egfem1
|
UTSW |
3 |
29,662,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9745:Egfem1
|
UTSW |
3 |
29,662,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0028:Egfem1
|
UTSW |
3 |
29,657,146 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Egfem1
|
UTSW |
3 |
29,148,453 (GRCm38) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGTTGCTGTTCAAACCAC -3'
(R):5'- GGAATTGAACTCAAATACCATCAGC -3'
Sequencing Primer
(F):5'- CTTGTTTACATAGTGGAGCAAAACG -3'
(R):5'- AGAAATCTTTCTCCTCAGCCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation