Incidental Mutation 'R3977:Entr1'
| ID |
311057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entr1
|
| Ensembl Gene |
ENSMUSG00000026927 |
| Gene Name |
endosome associated trafficking regulator 1 |
| Synonyms |
C330016H24Rik, Sdccag3, C630038K21Rik |
| MMRRC Submission |
040940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R3977 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
26272814-26279328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26274805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 364
(N364I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028293]
[ENSMUST00000035427]
[ENSMUST00000076431]
[ENSMUST00000077983]
[ENSMUST00000114093]
[ENSMUST00000114100]
[ENSMUST00000114102]
[ENSMUST00000139738]
[ENSMUST00000114115]
|
| AlphaFold |
A2AIW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028293
AA Change: N314I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927
AA Change: N314I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
209 |
321 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035427
|
| SMART Domains |
Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
coiled coil region
|
93 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
212 |
N/A |
INTRINSIC |
|
SANT
|
219 |
290 |
2.37e1 |
SMART |
|
SANT
|
293 |
343 |
4.38e-10 |
SMART |
|
SANT
|
345 |
397 |
3.05e-9 |
SMART |
|
SANT
|
400 |
449 |
8.24e-15 |
SMART |
|
SANT
|
452 |
501 |
7.8e-16 |
SMART |
|
low complexity region
|
516 |
547 |
N/A |
INTRINSIC |
|
Blast:SANT
|
550 |
753 |
1e-23 |
BLAST |
|
low complexity region
|
893 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
925 |
947 |
N/A |
INTRINSIC |
|
low complexity region
|
971 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1007 |
N/A |
INTRINSIC |
|
low complexity region
|
1157 |
1169 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076431
|
| SMART Domains |
Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
76 |
226 |
4.5e-47 |
PFAM |
|
Pfam:Peptidase_M16_C
|
231 |
430 |
4.1e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077983
AA Change: N291I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927
AA Change: N291I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
186 |
298 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114093
|
| SMART Domains |
Protein: ENSMUSP00000109727
Gene: ENSMUSG00000026926
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M16
|
76 |
226 |
1.6e-47 |
PFAM |
|
Pfam:Peptidase_M16_C
|
231 |
420 |
9.6e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114100
AA Change: N341I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927
AA Change: N341I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
236 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114102
AA Change: N364I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927
AA Change: N364I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
259 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140074
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135155
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133737
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139738
|
| SMART Domains |
Protein: ENSMUSP00000121256
Gene: ENSMUSG00000026927
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114115
|
| SMART Domains |
Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
3 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
80 |
N/A |
INTRINSIC |
|
coiled coil region
|
101 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
220 |
N/A |
INTRINSIC |
|
SANT
|
227 |
298 |
2.37e1 |
SMART |
|
SANT
|
301 |
351 |
4.38e-10 |
SMART |
|
SANT
|
353 |
405 |
3.05e-9 |
SMART |
|
SANT
|
408 |
457 |
8.24e-15 |
SMART |
|
SANT
|
460 |
509 |
7.8e-16 |
SMART |
|
low complexity region
|
524 |
555 |
N/A |
INTRINSIC |
|
Blast:SANT
|
558 |
761 |
1e-23 |
BLAST |
|
low complexity region
|
901 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
955 |
N/A |
INTRINSIC |
|
low complexity region
|
979 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
996 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1165 |
1177 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1198 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140115
|
| Meta Mutation Damage Score |
0.4273 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
C |
T |
11: 105,872,664 (GRCm39) |
P942L |
possibly damaging |
Het |
| Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
| B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
| Bicral |
T |
A |
17: 47,141,917 (GRCm39) |
M1L |
unknown |
Het |
| Brpf3 |
A |
G |
17: 29,026,016 (GRCm39) |
E363G |
possibly damaging |
Het |
| Ccdc96 |
T |
C |
5: 36,642,510 (GRCm39) |
L172P |
possibly damaging |
Het |
| Cln3 |
G |
A |
7: 126,179,308 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,668,071 (GRCm39) |
I1526T |
possibly damaging |
Het |
| Fmo3 |
T |
G |
1: 162,786,147 (GRCm39) |
E281A |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,559,491 (GRCm39) |
I1672T |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,309,470 (GRCm39) |
I194V |
probably benign |
Het |
| Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,126,098 (GRCm39) |
V396A |
probably benign |
Het |
| Hoxc13 |
T |
C |
15: 102,829,675 (GRCm39) |
V18A |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
| Il19 |
A |
T |
1: 130,863,770 (GRCm39) |
C74S |
probably damaging |
Het |
| Krt1c |
T |
C |
15: 101,719,562 (GRCm39) |
T703A |
unknown |
Het |
| Lrig2 |
A |
T |
3: 104,365,160 (GRCm39) |
V664E |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,348,430 (GRCm39) |
K2755R |
unknown |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,796,001 (GRCm39) |
N13D |
probably benign |
Het |
| Mfsd4b5 |
T |
C |
10: 39,850,704 (GRCm39) |
|
probably benign |
Het |
| Nras |
A |
G |
3: 102,967,541 (GRCm39) |
I46V |
probably benign |
Het |
| Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
| Ogfod2 |
C |
A |
5: 124,251,272 (GRCm39) |
|
probably null |
Het |
| Or10q3 |
C |
A |
19: 11,847,869 (GRCm39) |
R237L |
possibly damaging |
Het |
| Or10v1 |
T |
A |
19: 11,873,880 (GRCm39) |
F165Y |
probably damaging |
Het |
| Or11a4 |
T |
C |
17: 37,536,049 (GRCm39) |
V11A |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,031 (GRCm39) |
H56Q |
probably benign |
Het |
| Or4c3 |
C |
A |
2: 89,852,089 (GRCm39) |
G107V |
probably damaging |
Het |
| Or6c5 |
C |
T |
10: 129,074,377 (GRCm39) |
R120C |
probably damaging |
Het |
| Pkmyt1 |
A |
G |
17: 23,954,305 (GRCm39) |
M362V |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,693,713 (GRCm39) |
S983P |
probably benign |
Het |
| Ptpn22 |
A |
G |
3: 103,780,957 (GRCm39) |
|
probably benign |
Het |
| Raph1 |
A |
T |
1: 60,537,682 (GRCm39) |
D491E |
probably benign |
Het |
| Rc3h1 |
A |
G |
1: 160,786,969 (GRCm39) |
|
probably null |
Het |
| Rtn4 |
T |
C |
11: 29,643,819 (GRCm39) |
L5P |
probably benign |
Het |
| Slc23a4 |
C |
T |
6: 34,930,723 (GRCm39) |
V400I |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,204,698 (GRCm39) |
|
probably benign |
Het |
| Smpd1 |
T |
C |
7: 105,205,108 (GRCm39) |
F329S |
probably benign |
Het |
| Sycp2l |
A |
G |
13: 41,295,440 (GRCm39) |
I334M |
probably damaging |
Het |
| Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
| Ten1 |
G |
A |
11: 116,107,771 (GRCm39) |
|
probably null |
Het |
| Tfap2d |
C |
G |
1: 19,174,718 (GRCm39) |
S57C |
possibly damaging |
Het |
| Tnr |
A |
G |
1: 159,719,593 (GRCm39) |
M957V |
probably benign |
Het |
| Trbv13-3 |
A |
G |
6: 41,107,079 (GRCm39) |
|
probably benign |
Het |
| Trp53rkb |
C |
T |
2: 166,637,446 (GRCm39) |
A134V |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,607,345 (GRCm39) |
Y126C |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,941 (GRCm39) |
I698N |
probably damaging |
Het |
|
| Other mutations in Entr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02480:Entr1
|
APN |
2 |
26,275,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03293:Entr1
|
APN |
2 |
26,277,688 (GRCm39) |
splice site |
probably benign |
|
|
R0385:Entr1
|
UTSW |
2 |
26,277,671 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1707:Entr1
|
UTSW |
2 |
26,277,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2035:Entr1
|
UTSW |
2 |
26,273,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3743:Entr1
|
UTSW |
2 |
26,278,655 (GRCm39) |
intron |
probably benign |
|
|
R4592:Entr1
|
UTSW |
2 |
26,278,909 (GRCm39) |
unclassified |
probably benign |
|
|
R5389:Entr1
|
UTSW |
2 |
26,275,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Entr1
|
UTSW |
2 |
26,276,983 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6030:Entr1
|
UTSW |
2 |
26,276,983 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6381:Entr1
|
UTSW |
2 |
26,275,093 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8277:Entr1
|
UTSW |
2 |
26,274,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Entr1
|
UTSW |
2 |
26,278,645 (GRCm39) |
missense |
unknown |
|
|
R9752:Entr1
|
UTSW |
2 |
26,276,990 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTATAGTATGACTGAGCCGGTC -3'
(R):5'- AATAGTGTAAGCCAAGCACAGC -3'
Sequencing Primer
(F):5'- TGAGCCGGTCAGCACCTTTC -3'
(R):5'- GGATAGTTGTACATTTAAGGCCAGCC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation