Incidental Mutation 'R5049:Elapor2'
| ID |
394517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elapor2
|
| Ensembl Gene |
ENSMUSG00000056004 |
| Gene Name |
endosome-lysosome associated apoptosis and autophagy regulator family member 2 |
| Synonyms |
9330182L06Rik |
| MMRRC Submission |
042639-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5049 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9478488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 451
(T451A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069538]
[ENSMUST00000115348]
[ENSMUST00000134991]
[ENSMUST00000152095]
[ENSMUST00000154662]
[ENSMUST00000155764]
|
| AlphaFold |
Q3UZV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069538
AA Change: T451A
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: T451A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
58 |
334 |
1.12e-7 |
PROSPERO |
|
internal_repeat_1
|
343 |
665 |
1.12e-7 |
PROSPERO |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115348
|
| SMART Domains |
Protein: ENSMUSP00000111005
Gene: ENSMUSG00000056004
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134991
AA Change: T451A
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: T451A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
58 |
334 |
9.82e-8 |
PROSPERO |
|
internal_repeat_1
|
343 |
665 |
9.82e-8 |
PROSPERO |
|
transmembrane domain
|
926 |
948 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152095
|
| SMART Domains |
Protein: ENSMUSP00000116440
Gene: ENSMUSG00000056004
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154662
|
| SMART Domains |
Protein: ENSMUSP00000116026
Gene: ENSMUSG00000056004
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155764
AA Change: T451A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: T451A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
58 |
180 |
5.47e-6 |
PROSPERO |
|
internal_repeat_1
|
343 |
476 |
5.47e-6 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.1842 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.8%
- 20x: 90.4%
|
| Validation Efficiency |
97% (89/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,321,698 (GRCm39) |
S76P |
probably damaging |
Het |
| Acot8 |
A |
G |
2: 164,641,610 (GRCm39) |
|
probably benign |
Het |
| Angptl7 |
A |
G |
4: 148,582,468 (GRCm39) |
F143L |
probably benign |
Het |
| Atxn7l1 |
A |
G |
12: 33,408,686 (GRCm39) |
T283A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,094,655 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,095,539 (GRCm39) |
M1016T |
probably damaging |
Het |
| Brd3 |
G |
T |
2: 27,340,589 (GRCm39) |
|
probably benign |
Het |
| C130026L21Rik |
T |
A |
5: 111,729,702 (GRCm39) |
|
noncoding transcript |
Het |
| Cbr4 |
T |
G |
8: 61,948,238 (GRCm39) |
|
probably null |
Het |
| Ccl19 |
A |
G |
4: 42,756,268 (GRCm39) |
|
probably null |
Het |
| Ccl2 |
G |
T |
11: 81,927,333 (GRCm39) |
C34F |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,456,852 (GRCm39) |
T873S |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,338,992 (GRCm39) |
N3118S |
probably damaging |
Het |
| Epb41l1 |
C |
A |
2: 156,366,859 (GRCm39) |
P564Q |
possibly damaging |
Het |
| Extl3 |
A |
T |
14: 65,313,481 (GRCm39) |
M567K |
probably benign |
Het |
| Fhip2a |
T |
C |
19: 57,374,737 (GRCm39) |
I704T |
possibly damaging |
Het |
| Foxf2 |
T |
C |
13: 31,811,158 (GRCm39) |
S366P |
probably benign |
Het |
| Gamt |
T |
A |
10: 80,094,788 (GRCm39) |
T186S |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,744,730 (GRCm39) |
M1642K |
probably damaging |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Golga1 |
A |
T |
2: 38,937,747 (GRCm39) |
M115K |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,661,073 (GRCm39) |
D183E |
probably damaging |
Het |
| Herc3 |
A |
G |
6: 58,871,524 (GRCm39) |
|
probably null |
Het |
| Hes2 |
C |
A |
4: 152,244,331 (GRCm39) |
L39I |
possibly damaging |
Het |
| Hopx |
C |
A |
5: 77,242,899 (GRCm39) |
|
probably benign |
Het |
| Idi1 |
C |
T |
13: 8,938,078 (GRCm39) |
P175S |
probably damaging |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,481 (GRCm39) |
C325* |
probably null |
Het |
| Ighv7-3 |
T |
C |
12: 114,116,953 (GRCm39) |
I70V |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 66,157,746 (GRCm39) |
T110A |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,075,708 (GRCm39) |
D451G |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,715,668 (GRCm39) |
E1708G |
probably benign |
Het |
| Lrriq4 |
T |
A |
3: 30,705,086 (GRCm39) |
D371E |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,810,649 (GRCm39) |
V773E |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,908,882 (GRCm39) |
L23* |
probably null |
Het |
| Mapkbp1 |
G |
T |
2: 119,845,982 (GRCm39) |
|
probably benign |
Het |
| Mrpl30 |
A |
T |
1: 37,936,791 (GRCm39) |
D52V |
possibly damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,219,002 (GRCm39) |
T318S |
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,706,259 (GRCm39) |
L103Q |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,200,320 (GRCm39) |
H286Q |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,873,188 (GRCm39) |
K1144R |
possibly damaging |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,321,012 (GRCm39) |
S22P |
probably benign |
Het |
| Prss32 |
A |
T |
17: 24,078,221 (GRCm39) |
E302D |
possibly damaging |
Het |
| Prss45 |
A |
G |
9: 110,669,538 (GRCm39) |
K205E |
probably damaging |
Het |
| Puf60 |
T |
A |
15: 75,942,323 (GRCm39) |
I500F |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,470,516 (GRCm39) |
I4623N |
probably damaging |
Het |
| Sh3bp5l |
T |
A |
11: 58,228,950 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
T |
G |
17: 85,340,273 (GRCm39) |
Y232D |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,260,906 (GRCm39) |
Y608H |
probably damaging |
Het |
| Socs7 |
G |
T |
11: 97,269,469 (GRCm39) |
R429L |
probably benign |
Het |
| Sorcs3 |
C |
A |
19: 48,748,390 (GRCm39) |
N786K |
possibly damaging |
Het |
| Sp4 |
A |
T |
12: 118,218,207 (GRCm39) |
M680K |
probably benign |
Het |
| Tas2r131 |
T |
C |
6: 132,934,540 (GRCm39) |
T90A |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,624,000 (GRCm39) |
H1983Q |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,536 (GRCm39) |
H143R |
probably benign |
Het |
| Tg |
T |
A |
15: 66,699,231 (GRCm39) |
C833* |
probably null |
Het |
| Tmem245 |
A |
G |
4: 56,925,057 (GRCm39) |
S355P |
probably benign |
Het |
| Tmem86b |
G |
A |
7: 4,631,465 (GRCm39) |
P191S |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,936,223 (GRCm39) |
C238R |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,968,308 (GRCm39) |
E361D |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 44,040,633 (GRCm39) |
V298A |
possibly damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,536 (GRCm39) |
N22S |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,091 (GRCm39) |
|
probably null |
Het |
| Trrap |
T |
A |
5: 144,763,527 (GRCm39) |
I2492N |
probably damaging |
Het |
| Ufl1 |
G |
T |
4: 25,254,773 (GRCm39) |
A561E |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,752,341 (GRCm39) |
V86A |
probably damaging |
Het |
| Vmn1r184 |
A |
G |
7: 25,966,793 (GRCm39) |
I180V |
possibly damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,310,920 (GRCm39) |
F195S |
possibly damaging |
Het |
| Vmn2r4 |
A |
C |
3: 64,306,019 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,298 (GRCm39) |
T647A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,813,336 (GRCm39) |
H198Q |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,874,627 (GRCm39) |
T154A |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,347,478 (GRCm39) |
M3240V |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,600,872 (GRCm39) |
R295G |
possibly damaging |
Het |
| Zfp619 |
G |
A |
7: 39,184,938 (GRCm39) |
V323I |
probably benign |
Het |
| Zfy1 |
A |
T |
Y: 726,004 (GRCm39) |
I587N |
possibly damaging |
Het |
| Zswim6 |
C |
T |
13: 107,863,110 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Elapor2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Elapor2
|
APN |
5 |
9,472,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00909:Elapor2
|
APN |
5 |
9,430,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01477:Elapor2
|
APN |
5 |
9,487,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02486:Elapor2
|
APN |
5 |
9,472,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02863:Elapor2
|
APN |
5 |
9,511,399 (GRCm39) |
nonsense |
probably null |
|
|
IGL02939:Elapor2
|
APN |
5 |
9,511,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03039:Elapor2
|
APN |
5 |
9,468,055 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03395:Elapor2
|
APN |
5 |
9,472,359 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0063:Elapor2
|
UTSW |
5 |
9,490,709 (GRCm39) |
intron |
probably benign |
|
|
R0063:Elapor2
|
UTSW |
5 |
9,490,709 (GRCm39) |
intron |
probably benign |
|
|
R0193:Elapor2
|
UTSW |
5 |
9,472,359 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0265:Elapor2
|
UTSW |
5 |
9,484,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Elapor2
|
UTSW |
5 |
9,495,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0432:Elapor2
|
UTSW |
5 |
9,490,966 (GRCm39) |
nonsense |
probably null |
|
|
R0494:Elapor2
|
UTSW |
5 |
9,470,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0736:Elapor2
|
UTSW |
5 |
9,491,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0850:Elapor2
|
UTSW |
5 |
9,467,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Elapor2
|
UTSW |
5 |
9,430,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Elapor2
|
UTSW |
5 |
9,490,726 (GRCm39) |
nonsense |
probably null |
|
|
R1720:Elapor2
|
UTSW |
5 |
9,478,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1770:Elapor2
|
UTSW |
5 |
9,468,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1782:Elapor2
|
UTSW |
5 |
9,471,620 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1803:Elapor2
|
UTSW |
5 |
9,477,832 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1868:Elapor2
|
UTSW |
5 |
9,529,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Elapor2
|
UTSW |
5 |
9,468,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1871:Elapor2
|
UTSW |
5 |
9,468,007 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1913:Elapor2
|
UTSW |
5 |
9,316,275 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2054:Elapor2
|
UTSW |
5 |
9,513,030 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2170:Elapor2
|
UTSW |
5 |
9,529,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2381:Elapor2
|
UTSW |
5 |
9,430,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2396:Elapor2
|
UTSW |
5 |
9,485,395 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4003:Elapor2
|
UTSW |
5 |
9,490,877 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5030:Elapor2
|
UTSW |
5 |
9,478,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Elapor2
|
UTSW |
5 |
9,490,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Elapor2
|
UTSW |
5 |
9,511,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Elapor2
|
UTSW |
5 |
9,529,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5555:Elapor2
|
UTSW |
5 |
9,472,296 (GRCm39) |
splice site |
probably null |
|
|
R5593:Elapor2
|
UTSW |
5 |
9,316,350 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5681:Elapor2
|
UTSW |
5 |
9,509,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5707:Elapor2
|
UTSW |
5 |
9,491,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5756:Elapor2
|
UTSW |
5 |
9,512,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6087:Elapor2
|
UTSW |
5 |
9,449,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Elapor2
|
UTSW |
5 |
9,460,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7067:Elapor2
|
UTSW |
5 |
9,316,295 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7078:Elapor2
|
UTSW |
5 |
9,460,709 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7079:Elapor2
|
UTSW |
5 |
9,449,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Elapor2
|
UTSW |
5 |
9,495,384 (GRCm39) |
nonsense |
probably null |
|
|
R7265:Elapor2
|
UTSW |
5 |
9,496,975 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7996:Elapor2
|
UTSW |
5 |
9,512,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8199:Elapor2
|
UTSW |
5 |
9,470,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8246:Elapor2
|
UTSW |
5 |
9,496,966 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8928:Elapor2
|
UTSW |
5 |
9,496,979 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8935:Elapor2
|
UTSW |
5 |
9,491,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8963:Elapor2
|
UTSW |
5 |
9,487,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9140:Elapor2
|
UTSW |
5 |
9,449,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9244:Elapor2
|
UTSW |
5 |
9,460,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9272:Elapor2
|
UTSW |
5 |
9,460,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9395:Elapor2
|
UTSW |
5 |
9,477,822 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9548:Elapor2
|
UTSW |
5 |
9,490,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Elapor2
|
UTSW |
5 |
9,449,231 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0052:Elapor2
|
UTSW |
5 |
9,490,908 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
X0063:Elapor2
|
UTSW |
5 |
9,449,239 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCATGTAACATCTGTCCCTC -3'
(R):5'- GAAAGGCATCTGATTGGTTGC -3'
Sequencing Primer
(F):5'- TGTCCCTCATATTTGTCTGGTAG -3'
(R):5'- AAAGGCATCTGATTGGTTGCTTGAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation