Incidental Mutation 'R5194:Egfem1'
ID |
399926 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Egfem1
|
Ensembl Gene |
ENSMUSG00000063600 |
Gene Name |
EGF-like and EMI domain containing 1 |
Synonyms |
6130401L20Rik |
MMRRC Submission |
042770-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5194 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
29136172-29745358 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 29411345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000126420
|
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
C |
17: 48,348,059 (GRCm39) |
N82D |
probably benign |
Het |
Aadacl4fm2 |
A |
G |
4: 144,281,652 (GRCm39) |
V380A |
probably benign |
Het |
Acadm |
C |
T |
3: 153,638,755 (GRCm39) |
R206H |
possibly damaging |
Het |
Acly |
T |
A |
11: 100,414,372 (GRCm39) |
Y18F |
probably benign |
Het |
Acnat2 |
G |
T |
4: 49,380,452 (GRCm39) |
Q291K |
probably benign |
Het |
Agtpbp1 |
T |
C |
13: 59,648,453 (GRCm39) |
I456V |
probably benign |
Het |
Ankrd7 |
A |
G |
6: 18,868,076 (GRCm39) |
N114S |
possibly damaging |
Het |
Arfgef1 |
A |
T |
1: 10,275,132 (GRCm39) |
L307I |
probably benign |
Het |
Arhgef2 |
A |
T |
3: 88,542,956 (GRCm39) |
I383F |
probably damaging |
Het |
Cbs |
C |
T |
17: 31,843,198 (GRCm39) |
|
probably null |
Het |
Cep135 |
T |
C |
5: 76,763,624 (GRCm39) |
V538A |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,532,936 (GRCm39) |
E254G |
probably damaging |
Het |
Drc7 |
T |
C |
8: 95,788,345 (GRCm39) |
V236A |
probably benign |
Het |
Dtna |
C |
T |
18: 23,723,302 (GRCm39) |
Q169* |
probably null |
Het |
Eif2ak3 |
T |
C |
6: 70,835,462 (GRCm39) |
S130P |
possibly damaging |
Het |
Ewsr1 |
T |
C |
11: 5,032,355 (GRCm39) |
N297S |
unknown |
Het |
F13a1 |
T |
G |
13: 37,156,037 (GRCm39) |
D192A |
probably damaging |
Het |
Fam120a |
A |
G |
13: 49,034,411 (GRCm39) |
V1067A |
probably benign |
Het |
Gm17490 |
T |
C |
2: 11,631,062 (GRCm39) |
Y5C |
unknown |
Het |
Gm57859 |
T |
C |
11: 113,579,654 (GRCm39) |
S350P |
possibly damaging |
Het |
Gm8587 |
C |
T |
12: 88,056,556 (GRCm39) |
|
noncoding transcript |
Het |
H2-Ab1 |
C |
T |
17: 34,488,352 (GRCm39) |
|
probably benign |
Het |
Hoxd12 |
T |
C |
2: 74,505,447 (GRCm39) |
L6P |
probably damaging |
Het |
Ifi204 |
C |
T |
1: 173,576,910 (GRCm39) |
D564N |
possibly damaging |
Het |
Irak2 |
T |
C |
6: 113,667,751 (GRCm39) |
V444A |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrba |
A |
C |
3: 86,235,526 (GRCm39) |
N877H |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,079,495 (GRCm39) |
I388V |
probably benign |
Het |
Myo9b |
C |
T |
8: 71,801,733 (GRCm39) |
A1286V |
probably benign |
Het |
Myt1l |
A |
C |
12: 29,861,647 (GRCm39) |
D143A |
unknown |
Het |
Ngfr |
T |
C |
11: 95,471,808 (GRCm39) |
N63S |
probably benign |
Het |
Or2ag16 |
A |
T |
7: 106,352,426 (GRCm39) |
H56Q |
probably benign |
Het |
Or4c3 |
T |
A |
2: 89,851,870 (GRCm39) |
Y180F |
probably damaging |
Het |
Or51a7 |
A |
G |
7: 102,615,071 (GRCm39) |
I255V |
probably benign |
Het |
Or6c70 |
C |
T |
10: 129,709,967 (GRCm39) |
V220I |
probably benign |
Het |
Or6z6 |
A |
G |
7: 6,491,519 (GRCm39) |
L118P |
probably damaging |
Het |
P2rx7 |
T |
C |
5: 122,811,858 (GRCm39) |
S390P |
probably benign |
Het |
Pcdhga4 |
A |
C |
18: 37,820,794 (GRCm39) |
Q781P |
probably benign |
Het |
Phip |
G |
A |
9: 82,790,915 (GRCm39) |
S677F |
probably benign |
Het |
Ptpdc1 |
C |
A |
13: 48,740,265 (GRCm39) |
V389F |
possibly damaging |
Het |
Rab2a |
T |
A |
4: 8,604,381 (GRCm39) |
I161N |
probably benign |
Het |
Rnf113a2 |
T |
A |
12: 84,464,111 (GRCm39) |
M1K |
probably null |
Het |
Schip1 |
T |
C |
3: 68,402,205 (GRCm39) |
V122A |
probably benign |
Het |
Sdr16c5 |
C |
A |
4: 4,006,663 (GRCm39) |
A210S |
probably benign |
Het |
Sh3bp1 |
A |
G |
15: 78,787,301 (GRCm39) |
K83E |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,166,012 (GRCm39) |
S1541G |
possibly damaging |
Het |
Slc22a21 |
T |
C |
11: 53,870,673 (GRCm39) |
Y4C |
probably damaging |
Het |
Smco1 |
C |
T |
16: 32,092,592 (GRCm39) |
H88Y |
probably damaging |
Het |
Tll2 |
T |
C |
19: 41,084,336 (GRCm39) |
D697G |
probably damaging |
Het |
Trim34a |
A |
G |
7: 103,910,200 (GRCm39) |
N334S |
possibly damaging |
Het |
Ubqln1 |
A |
G |
13: 58,346,847 (GRCm39) |
I64T |
probably benign |
Het |
Vstm2b |
T |
A |
7: 40,551,912 (GRCm39) |
|
probably null |
Het |
Wdr17 |
A |
G |
8: 55,140,639 (GRCm39) |
F238L |
probably damaging |
Het |
Wiz |
T |
C |
17: 32,596,822 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,579,434 (GRCm39) |
S560G |
probably benign |
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 |
|
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 |
|
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'- TGAGAACTAAGCACTTACCTTACCC -3'
(R):5'- CAGATGAGACGAGCGAACTC -3'
Sequencing Primer
(F):5'- AGCATAAGATCTGATGCTGTCATTGG -3'
(R):5'- CTCGAAAGGCATACACAGTCGG -3'
|
Posted On |
2016-07-06 |