Incidental Mutation 'R6952:Entrep1'
| ID |
543309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entrep1
|
| Ensembl Gene |
ENSMUSG00000071604 |
| Gene Name |
endosomal transmembrane epsin interactor 1 |
| Synonyms |
LOC381217, Fam189a2 |
| MMRRC Submission |
045064-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R6952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
23950114-24008383 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23962082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 307
(M307K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096164]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096164
AA Change: M307K
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: M307K
| 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 |
|
| Meta Mutation Damage Score |
0.0747 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
G |
16: 20,368,484 (GRCm39) |
|
probably null |
Het |
| Acap1 |
C |
A |
11: 69,776,343 (GRCm39) |
V219L |
probably benign |
Het |
| Arpp21 |
G |
A |
9: 111,955,550 (GRCm39) |
P530S |
probably damaging |
Het |
| Atp6v1b1 |
T |
C |
6: 83,731,792 (GRCm39) |
V224A |
probably damaging |
Het |
| Brd3 |
T |
C |
2: 27,344,371 (GRCm39) |
D453G |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,951,150 (GRCm39) |
|
probably null |
Het |
| Ccdc148 |
T |
C |
2: 58,713,657 (GRCm39) |
H498R |
probably damaging |
Het |
| Cga |
A |
T |
4: 34,905,171 (GRCm39) |
Y65F |
possibly damaging |
Het |
| Chd7 |
A |
T |
4: 8,856,797 (GRCm39) |
H136L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,071,022 (GRCm39) |
Y34H |
probably damaging |
Het |
| Cimap2 |
C |
G |
4: 106,467,596 (GRCm39) |
|
probably null |
Het |
| Dapk2 |
C |
G |
9: 66,161,904 (GRCm39) |
R271G |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,362,895 (GRCm39) |
V3819G |
probably damaging |
Het |
| Dsg3 |
A |
T |
18: 20,658,216 (GRCm39) |
I276F |
possibly damaging |
Het |
| Dusp1 |
T |
C |
17: 26,726,577 (GRCm39) |
S162G |
probably benign |
Het |
| Gga2 |
C |
A |
7: 121,598,111 (GRCm39) |
A328S |
probably benign |
Het |
| Gpr183 |
A |
G |
14: 122,191,897 (GRCm39) |
I208T |
possibly damaging |
Het |
| Haspin |
T |
C |
11: 73,026,971 (GRCm39) |
D706G |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,095,786 (GRCm39) |
I338V |
probably benign |
Het |
| Ik |
C |
T |
18: 36,886,613 (GRCm39) |
R362C |
probably damaging |
Het |
| Kdm4c |
T |
G |
4: 74,275,587 (GRCm39) |
C754W |
probably damaging |
Het |
| Limk1 |
T |
A |
5: 134,699,332 (GRCm39) |
I142F |
possibly damaging |
Het |
| Mccc2 |
T |
C |
13: 100,104,234 (GRCm39) |
E305G |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 118,003,962 (GRCm39) |
D639G |
probably damaging |
Het |
| Mefv |
T |
G |
16: 3,528,744 (GRCm39) |
T566P |
probably damaging |
Het |
| Mep1b |
G |
A |
18: 21,221,727 (GRCm39) |
V226I |
probably benign |
Het |
| Mgmt |
T |
C |
7: 136,553,064 (GRCm39) |
M19T |
probably benign |
Het |
| Mrgpra6 |
A |
T |
7: 46,835,693 (GRCm39) |
S243T |
probably benign |
Het |
| Myh7 |
C |
T |
14: 55,229,197 (GRCm39) |
R169Q |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,801,668 (GRCm39) |
I917V |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,971 (GRCm39) |
M67K |
possibly damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,100,209 (GRCm39) |
L159P |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,056,482 (GRCm39) |
E371G |
probably damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,495,377 (GRCm39) |
D21E |
probably benign |
Het |
| Slc47a1 |
T |
A |
11: 61,235,280 (GRCm39) |
M518L |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,987,974 (GRCm39) |
T578A |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,974,205 (GRCm39) |
K1133N |
possibly damaging |
Het |
| Taco1 |
T |
C |
11: 105,963,942 (GRCm39) |
S234P |
probably benign |
Het |
| Trpv4 |
G |
A |
5: 114,771,263 (GRCm39) |
S422F |
probably damaging |
Het |
| Tvp23b |
T |
A |
11: 62,775,952 (GRCm39) |
D97E |
possibly damaging |
Het |
| Vmn1r37 |
A |
T |
6: 66,708,523 (GRCm39) |
I13L |
probably benign |
Het |
| Vrk2 |
T |
A |
11: 26,485,597 (GRCm39) |
K130N |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,681,923 (GRCm39) |
R3016Q |
probably damaging |
Het |
| Zfp383 |
T |
C |
7: 29,614,380 (GRCm39) |
S212P |
probably benign |
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 |
|
R1122:Entrep1
|
UTSW |
19 |
23,952,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CGGGTGTCAGTTTTCCCTAG -3'
(R):5'- AAGCACTGTGTGGCATTTCC -3'
Sequencing Primer
(F):5'- CTCTAGGTCAAGATTGGGACTTATC -3'
(R):5'- AGCTTTCCATCCCTACTGTGTGATC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation