Incidental Mutation 'R1398:Elapor2'
| ID |
160224 |
| 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 |
039460-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1398 (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 9430297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 69
(Y69C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069538]
[ENSMUST00000115348]
[ENSMUST00000134991]
[ENSMUST00000152095]
[ENSMUST00000154662]
[ENSMUST00000155764]
|
| AlphaFold |
Q3UZV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069538
AA Change: Y69C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
AA Change: Y69C
| 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 |
noncoding transcript
Transcript: ENSMUST00000104703
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115348
AA Change: Y69C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111005
Gene: ENSMUSG00000056004
AA Change: Y69C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131626
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134991
AA Change: Y69C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
AA Change: Y69C
| 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 damaging
Transcript: ENSMUST00000154662
AA Change: Y69C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116026
Gene: ENSMUSG00000056004
AA Change: Y69C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155764
AA Change: Y69C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
AA Change: Y69C
| 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 |
0.3952 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
96% (75/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,547,511 (GRCm39) |
K288E |
probably damaging |
Het |
| Aldh3a2 |
T |
C |
11: 61,147,562 (GRCm39) |
|
probably null |
Het |
| Anks1b |
A |
G |
10: 89,885,891 (GRCm39) |
T196A |
probably damaging |
Het |
| Anks6 |
T |
A |
4: 47,044,926 (GRCm39) |
T327S |
possibly damaging |
Het |
| Bdh2 |
T |
C |
3: 135,001,057 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
A |
17: 34,949,693 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,562,764 (GRCm39) |
V847I |
possibly damaging |
Het |
| Cadps |
G |
T |
14: 12,449,822 (GRCm38) |
T1129K |
probably damaging |
Het |
| Cdc45 |
A |
G |
16: 18,600,721 (GRCm39) |
|
probably benign |
Het |
| Cep63 |
A |
T |
9: 102,480,285 (GRCm39) |
|
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,126,825 (GRCm39) |
|
probably null |
Het |
| Cnot11 |
A |
G |
1: 39,584,261 (GRCm39) |
R478G |
probably damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,627,069 (GRCm39) |
S254P |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,020,841 (GRCm39) |
K87* |
probably null |
Het |
| Dpy19l2 |
T |
A |
9: 24,492,559 (GRCm39) |
|
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,221,393 (GRCm39) |
I694N |
probably damaging |
Het |
| Ehd4 |
A |
T |
2: 119,958,081 (GRCm39) |
I168K |
probably benign |
Het |
| Eif4e |
A |
T |
3: 138,252,136 (GRCm39) |
N25Y |
probably damaging |
Het |
| Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
| Fgfrl1 |
T |
A |
5: 108,854,147 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
T |
A |
19: 57,361,358 (GRCm39) |
|
probably benign |
Het |
| Gm3159 |
T |
A |
14: 4,398,586 (GRCm38) |
Y92* |
probably null |
Het |
| Gm4922 |
T |
A |
10: 18,659,496 (GRCm39) |
S409C |
possibly damaging |
Het |
| Gmcl1 |
G |
A |
6: 86,691,244 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
A |
G |
5: 88,813,706 (GRCm39) |
Y231H |
probably benign |
Het |
| Heatr4 |
T |
A |
12: 84,014,395 (GRCm39) |
H614L |
possibly damaging |
Het |
| Hoxa13 |
C |
G |
6: 52,260,647 (GRCm38) |
|
probably benign |
Het |
| Hoxa13 |
G |
C |
6: 52,260,648 (GRCm38) |
|
probably benign |
Het |
| Isg20l2 |
C |
A |
3: 87,846,061 (GRCm39) |
L325I |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,033,190 (GRCm39) |
Y879H |
probably damaging |
Het |
| Kcnk10 |
C |
A |
12: 98,402,485 (GRCm39) |
W318L |
probably damaging |
Het |
| Kctd1 |
T |
C |
18: 15,195,654 (GRCm39) |
E323G |
possibly damaging |
Het |
| Kif4 |
G |
T |
X: 99,732,703 (GRCm39) |
A492S |
probably benign |
Het |
| Krtap4-1 |
T |
C |
11: 99,518,558 (GRCm39) |
T151A |
unknown |
Het |
| Ldlr |
A |
T |
9: 21,650,838 (GRCm39) |
Q449L |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,649,216 (GRCm39) |
D872E |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,322 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
C |
T |
10: 125,838,957 (GRCm39) |
P488L |
probably benign |
Het |
| Lrrc4b |
A |
C |
7: 44,111,876 (GRCm39) |
I583L |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,915,121 (GRCm39) |
S3272P |
possibly damaging |
Het |
| Marchf2 |
T |
C |
17: 33,915,096 (GRCm39) |
H166R |
probably damaging |
Het |
| Mtbp |
C |
A |
15: 55,440,933 (GRCm39) |
Y373* |
probably null |
Het |
| Myh2 |
C |
T |
11: 67,076,113 (GRCm39) |
H767Y |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,428,889 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,179,658 (GRCm39) |
N1282Y |
probably damaging |
Het |
| Nectin3 |
A |
G |
16: 46,269,119 (GRCm39) |
Y428H |
possibly damaging |
Het |
| Nrros |
A |
T |
16: 31,961,962 (GRCm39) |
I649N |
probably damaging |
Het |
| Nvl |
A |
T |
1: 180,924,691 (GRCm39) |
|
probably benign |
Het |
| Or5p70 |
T |
A |
7: 107,994,708 (GRCm39) |
V127E |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,246,435 (GRCm39) |
V368E |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,882,857 (GRCm39) |
S1674T |
possibly damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,850,307 (GRCm39) |
V31A |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,697,579 (GRCm39) |
V692E |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,372 (GRCm39) |
|
probably null |
Het |
| Rps6kc1 |
T |
C |
1: 190,532,212 (GRCm39) |
I597V |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,977,658 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
G |
2: 66,314,930 (GRCm39) |
M1587T |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,512,104 (GRCm39) |
I597F |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,636,268 (GRCm39) |
N650S |
unknown |
Het |
| Slc22a28 |
G |
T |
19: 8,107,566 (GRCm39) |
S167* |
probably null |
Het |
| Slfn1 |
T |
A |
11: 83,011,968 (GRCm39) |
M28K |
probably damaging |
Het |
| Smc6 |
T |
C |
12: 11,321,880 (GRCm39) |
|
probably benign |
Het |
| Sox8 |
T |
C |
17: 25,786,857 (GRCm39) |
H282R |
probably benign |
Het |
| Spata31e2 |
G |
T |
1: 26,724,422 (GRCm39) |
Q253K |
possibly damaging |
Het |
| Syngr3 |
C |
A |
17: 24,905,414 (GRCm39) |
V161L |
probably benign |
Het |
| Trak1 |
C |
T |
9: 121,283,425 (GRCm39) |
S397F |
probably damaging |
Het |
| Uso1 |
C |
T |
5: 92,329,327 (GRCm39) |
A405V |
probably benign |
Het |
| Uvrag |
G |
T |
7: 98,715,027 (GRCm39) |
Y190* |
probably null |
Het |
| Vps13d |
A |
T |
4: 144,826,553 (GRCm39) |
L1726Q |
probably null |
Het |
| Vwf |
A |
T |
6: 125,580,420 (GRCm39) |
Q556L |
probably benign |
Het |
| Wdr70 |
T |
A |
15: 8,065,325 (GRCm39) |
M246L |
probably benign |
Het |
| Yipf3 |
T |
C |
17: 46,562,372 (GRCm39) |
F285S |
probably damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,476,621 (GRCm39) |
G579R |
probably damaging |
Het |
| Zdhhc18 |
G |
C |
4: 133,354,608 (GRCm39) |
F125L |
probably benign |
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 |
|
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 |
|
R5049:Elapor2
|
UTSW |
5 |
9,478,488 (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'- TGTCAGCTACTTAGATCCCAAGCCC -3'
(R):5'- TACACTGTCGCCAGGTCTCTTGTG -3'
Sequencing Primer
(F):5'- GCTGTAGTGTTTCAGAAGATAGAC -3'
(R):5'- CACAACATACTGCATTCTTTGCCTT -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation