Incidental Mutation 'IGL02480:Entr1'
| ID |
295136 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Entr1
|
| Ensembl Gene |
ENSMUSG00000026927 |
| Gene Name |
endosome associated trafficking regulator 1 |
| Synonyms |
C330016H24Rik, Sdccag3, C630038K21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02480
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
26272814-26279328 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26275132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 342
(H342L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028293]
[ENSMUST00000035427]
[ENSMUST00000076431]
[ENSMUST00000077983]
[ENSMUST00000114093]
[ENSMUST00000114100]
[ENSMUST00000114102]
[ENSMUST00000114115]
[ENSMUST00000139738]
|
| AlphaFold |
A2AIW0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028293
AA Change: H292L
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927
AA Change: H292L
| 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: H269L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927
AA Change: H269L
| 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 benign
Transcript: ENSMUST00000114100
AA Change: H319L
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927
AA Change: H319L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
236 |
348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114102
AA Change: H342L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927
AA Change: H342L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
259 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133737
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135155
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140074
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136972
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130954
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137686
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132574
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134737
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000149850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150375
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
A |
3: 59,946,908 (GRCm39) |
I202K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,221,869 (GRCm39) |
S169T |
possibly damaging |
Het |
| Acsm1 |
A |
T |
7: 119,255,265 (GRCm39) |
I389F |
possibly damaging |
Het |
| Actn2 |
T |
A |
13: 12,291,364 (GRCm39) |
Q680L |
probably benign |
Het |
| Ankrd13d |
G |
A |
19: 4,321,491 (GRCm39) |
P404S |
possibly damaging |
Het |
| Ankrd46 |
G |
T |
15: 36,484,142 (GRCm39) |
|
probably benign |
Het |
| Arfip1 |
A |
G |
3: 84,455,239 (GRCm39) |
|
probably null |
Het |
| Asb15 |
A |
T |
6: 24,570,745 (GRCm39) |
L574F |
probably damaging |
Het |
| Cym |
T |
C |
3: 107,120,838 (GRCm39) |
I256V |
probably benign |
Het |
| Cyp3a44 |
C |
T |
5: 145,731,715 (GRCm39) |
E144K |
possibly damaging |
Het |
| Efna1 |
T |
C |
3: 89,179,902 (GRCm39) |
E109G |
probably benign |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,213 (GRCm39) |
I225F |
probably damaging |
Het |
| Eml1 |
C |
A |
12: 108,487,955 (GRCm39) |
Q556K |
probably benign |
Het |
| Eml5 |
T |
G |
12: 98,842,502 (GRCm39) |
T199P |
probably damaging |
Het |
| Etl4 |
A |
C |
2: 20,793,335 (GRCm39) |
M687L |
probably damaging |
Het |
| Fam199x |
C |
A |
X: 135,950,788 (GRCm39) |
T56K |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,579 (GRCm39) |
D4845G |
probably damaging |
Het |
| Gm4987 |
T |
A |
X: 45,544,973 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
A |
1: 16,839,766 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5930 |
T |
C |
14: 44,575,087 (GRCm39) |
Y68C |
probably benign |
Het |
| Gucy1a1 |
C |
T |
3: 82,005,040 (GRCm39) |
V582M |
probably damaging |
Het |
| Haghl |
G |
T |
17: 26,002,033 (GRCm39) |
A220E |
probably damaging |
Het |
| Hsf5 |
G |
A |
11: 87,522,483 (GRCm39) |
A359T |
possibly damaging |
Het |
| Igsf9 |
A |
T |
1: 172,312,345 (GRCm39) |
|
probably benign |
Het |
| Igsf9 |
C |
A |
1: 172,324,480 (GRCm39) |
D799E |
possibly damaging |
Het |
| Itga1 |
A |
T |
13: 115,124,184 (GRCm39) |
F703I |
probably damaging |
Het |
| Kcna6 |
G |
A |
6: 126,715,531 (GRCm39) |
P453S |
probably damaging |
Het |
| Lzic |
A |
T |
4: 149,571,260 (GRCm39) |
N15I |
probably damaging |
Het |
| Or1j10 |
T |
G |
2: 36,267,504 (GRCm39) |
C239G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,314 (GRCm39) |
R89G |
probably benign |
Het |
| Or4f54 |
A |
G |
2: 111,122,858 (GRCm39) |
I82V |
possibly damaging |
Het |
| Or5p78 |
C |
T |
7: 108,212,018 (GRCm39) |
T168I |
probably benign |
Het |
| P4ha1 |
T |
C |
10: 59,179,574 (GRCm39) |
Y141H |
probably damaging |
Het |
| Paxx |
G |
A |
2: 25,350,024 (GRCm39) |
P164S |
probably damaging |
Het |
| Pgd |
A |
G |
4: 149,241,075 (GRCm39) |
V278A |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,526 (GRCm39) |
Y352C |
probably damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
| Poli |
T |
C |
18: 70,658,477 (GRCm39) |
T86A |
probably benign |
Het |
| Psd2 |
G |
A |
18: 36,139,136 (GRCm39) |
R528H |
probably damaging |
Het |
| Ptchd4 |
G |
T |
17: 42,813,431 (GRCm39) |
C444F |
probably benign |
Het |
| Ptpra |
C |
A |
2: 130,346,181 (GRCm39) |
T114K |
probably benign |
Het |
| Rho |
A |
G |
6: 115,912,505 (GRCm39) |
N123S |
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,120,770 (GRCm39) |
D993G |
probably damaging |
Het |
| Slc1a2 |
T |
C |
2: 102,566,411 (GRCm39) |
L38P |
probably damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,244,569 (GRCm39) |
V346M |
possibly damaging |
Het |
| Slc43a1 |
A |
G |
2: 84,669,928 (GRCm39) |
I7V |
probably benign |
Het |
| Spag9 |
C |
T |
11: 93,999,413 (GRCm39) |
Q691* |
probably null |
Het |
| Timmdc1 |
A |
T |
16: 38,342,763 (GRCm39) |
V45D |
probably null |
Het |
| Tlr8 |
T |
A |
X: 166,027,179 (GRCm39) |
H557L |
probably damaging |
Het |
|
| Other mutations in Entr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R3977:Entr1
|
UTSW |
2 |
26,274,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation