Incidental Mutation 'R1122:Entrep1'
| ID |
95798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entrep1
|
| Ensembl Gene |
ENSMUSG00000071604 |
| Gene Name |
endosomal transmembrane epsin interactor 1 |
| Synonyms |
LOC381217, Fam189a2 |
| MMRRC Submission |
039195-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1122 (G1)
|
| Quality Score |
220 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
23950114-24008383 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23952756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 518
(E518G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096164]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096164
AA Change: E518G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: E518G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
91 |
254 |
9.5e-33 |
PFAM |
|
low complexity region
|
282 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
584 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
G |
A |
11: 69,902,203 (GRCm39) |
L469F |
probably damaging |
Het |
| Adgrb1 |
C |
A |
15: 74,419,534 (GRCm39) |
R792S |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 44,032,307 (GRCm39) |
H297L |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,943,597 (GRCm39) |
E333G |
probably damaging |
Het |
| Cyb5a |
A |
G |
18: 84,895,964 (GRCm39) |
T77A |
possibly damaging |
Het |
| Exosc10 |
T |
C |
4: 148,650,821 (GRCm39) |
W456R |
possibly damaging |
Het |
| Fhip2a |
A |
T |
19: 57,370,733 (GRCm39) |
T551S |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,513,463 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Gm9637 |
T |
A |
14: 19,401,879 (GRCm38) |
|
noncoding transcript |
Het |
| Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
| Kifc5b |
T |
A |
17: 27,143,035 (GRCm39) |
V269E |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,719 (GRCm39) |
N207D |
probably damaging |
Het |
| Map2k5 |
A |
G |
9: 63,170,445 (GRCm39) |
V291A |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,266,147 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or12d12 |
T |
A |
17: 37,611,019 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,542,934 (GRCm39) |
D109V |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,457,981 (GRCm39) |
V294A |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Rnf220 |
C |
T |
4: 117,135,277 (GRCm39) |
G171S |
probably benign |
Het |
| Slc6a4 |
T |
C |
11: 76,918,012 (GRCm39) |
S585P |
possibly damaging |
Het |
| Slc7a8 |
T |
C |
14: 54,961,564 (GRCm39) |
E528G |
probably benign |
Het |
| Slco4c1 |
A |
G |
1: 96,756,561 (GRCm39) |
I587T |
possibly damaging |
Het |
| Syt4 |
T |
A |
18: 31,573,255 (GRCm39) |
H420L |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,936,792 (GRCm39) |
K236E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,545,676 (GRCm39) |
V32549A |
probably damaging |
Het |
| Uqcc4 |
T |
C |
17: 25,403,846 (GRCm39) |
I62T |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,030,832 (GRCm39) |
H2299R |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,743,403 (GRCm39) |
V64A |
possibly damaging |
Het |
|
| Other mutations in Entrep1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00485:Entrep1
|
APN |
19 |
23,962,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Entrep1
|
APN |
19 |
23,965,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:Entrep1
|
UTSW |
19 |
23,956,749 (GRCm39) |
splice site |
probably benign |
|
|
R0613:Entrep1
|
UTSW |
19 |
23,963,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1078:Entrep1
|
UTSW |
19 |
23,950,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1228:Entrep1
|
UTSW |
19 |
23,956,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1445:Entrep1
|
UTSW |
19 |
23,998,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Entrep1
|
UTSW |
19 |
23,950,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1469:Entrep1
|
UTSW |
19 |
23,950,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1547:Entrep1
|
UTSW |
19 |
23,957,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1657:Entrep1
|
UTSW |
19 |
23,952,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Entrep1
|
UTSW |
19 |
23,957,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3701:Entrep1
|
UTSW |
19 |
23,956,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4163:Entrep1
|
UTSW |
19 |
23,953,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4163:Entrep1
|
UTSW |
19 |
23,952,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4164:Entrep1
|
UTSW |
19 |
23,953,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4164:Entrep1
|
UTSW |
19 |
23,952,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Entrep1
|
UTSW |
19 |
23,953,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Entrep1
|
UTSW |
19 |
23,952,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4418:Entrep1
|
UTSW |
19 |
23,956,799 (GRCm39) |
missense |
probably benign |
|
|
R4558:Entrep1
|
UTSW |
19 |
24,007,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4559:Entrep1
|
UTSW |
19 |
24,007,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4866:Entrep1
|
UTSW |
19 |
23,952,790 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4879:Entrep1
|
UTSW |
19 |
23,953,019 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4900:Entrep1
|
UTSW |
19 |
23,952,790 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4934:Entrep1
|
UTSW |
19 |
23,950,789 (GRCm39) |
makesense |
probably null |
|
|
R5530:Entrep1
|
UTSW |
19 |
23,952,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5942:Entrep1
|
UTSW |
19 |
23,963,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Entrep1
|
UTSW |
19 |
23,962,193 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6207:Entrep1
|
UTSW |
19 |
23,950,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Entrep1
|
UTSW |
19 |
23,962,082 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6573:Entrep1
|
UTSW |
19 |
23,965,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6711:Entrep1
|
UTSW |
19 |
23,955,463 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6952:Entrep1
|
UTSW |
19 |
23,962,082 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7621:Entrep1
|
UTSW |
19 |
23,972,168 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7968:Entrep1
|
UTSW |
19 |
23,962,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Entrep1
|
UTSW |
19 |
23,965,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8676:Entrep1
|
UTSW |
19 |
23,965,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8989:Entrep1
|
UTSW |
19 |
23,962,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9090:Entrep1
|
UTSW |
19 |
23,972,221 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9271:Entrep1
|
UTSW |
19 |
23,972,221 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9687:Entrep1
|
UTSW |
19 |
23,957,029 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0018:Entrep1
|
UTSW |
19 |
23,953,010 (GRCm39) |
frame shift |
probably null |
|
|
X0020:Entrep1
|
UTSW |
19 |
23,953,010 (GRCm39) |
frame shift |
probably null |
|
|
X0027:Entrep1
|
UTSW |
19 |
23,953,010 (GRCm39) |
frame shift |
probably null |
|
|
X0065:Entrep1
|
UTSW |
19 |
23,953,010 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGCCATCATTTTCAAGAGCCG -3'
(R):5'- AGGCTAGATCTCGCTACAGTGACTC -3'
Sequencing Primer
(F):5'- AGAAAGTGAGGTTCTCTTCCC -3'
(R):5'- TCGCTACAGTGACTCTGAGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation