Incidental Mutation 'R5681:Elapor2'
| ID |
443024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elapor2
|
| Ensembl Gene |
ENSMUSG00000056004 |
| Gene Name |
endosome-lysosome associated apoptosis and autophagy regulator family member 2 |
| Synonyms |
9330182L06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5681 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
9316118-9531825 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 9509308 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069538]
[ENSMUST00000115348]
[ENSMUST00000134991]
[ENSMUST00000134991]
[ENSMUST00000152095]
[ENSMUST00000154662]
[ENSMUST00000155764]
|
| AlphaFold |
Q3UZV7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069538
|
| SMART Domains |
Protein: ENSMUSP00000069165
Gene: ENSMUSG00000056004
| 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 |
probably null
Transcript: ENSMUST00000134991
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
| 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 null
Transcript: ENSMUST00000134991
|
| SMART Domains |
Protein: ENSMUSP00000121757
Gene: ENSMUSG00000056004
| 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 benign
Transcript: ENSMUST00000155764
|
| SMART Domains |
Protein: ENSMUSP00000120849
Gene: ENSMUSG00000056004
| 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 |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,814,559 (GRCm39) |
F45S |
possibly damaging |
Het |
| Adora2b |
T |
A |
11: 62,140,067 (GRCm39) |
V47E |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,375,014 (GRCm39) |
I396T |
probably damaging |
Het |
| Arhgap5 |
G |
A |
12: 52,566,562 (GRCm39) |
D1178N |
probably benign |
Het |
| Atp10d |
T |
C |
5: 72,404,289 (GRCm39) |
|
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,468,347 (GRCm39) |
S264P |
probably damaging |
Het |
| Brinp3 |
A |
T |
1: 146,777,484 (GRCm39) |
I644F |
probably benign |
Het |
| Ccdc168 |
A |
T |
1: 44,100,624 (GRCm39) |
V158D |
possibly damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,208,698 (GRCm39) |
R675G |
probably benign |
Het |
| Cnr2 |
T |
G |
4: 135,644,000 (GRCm39) |
M26R |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,445,085 (GRCm39) |
|
probably null |
Het |
| Cux1 |
A |
G |
5: 136,337,038 (GRCm39) |
W696R |
probably damaging |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,188 (GRCm39) |
N117S |
unknown |
Het |
| Dnah12 |
T |
C |
14: 26,537,452 (GRCm39) |
C2234R |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,199,836 (GRCm39) |
I1405L |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,416,270 (GRCm39) |
F724L |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,210,136 (GRCm39) |
|
probably null |
Het |
| Epha10 |
A |
T |
4: 124,796,359 (GRCm39) |
Q356L |
unknown |
Het |
| Fbln2 |
G |
T |
6: 91,248,778 (GRCm39) |
V1148L |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,789,654 (GRCm39) |
N627S |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,051,517 (GRCm39) |
V233M |
possibly damaging |
Het |
| Gtf2ird1 |
T |
A |
5: 134,392,172 (GRCm39) |
S800C |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,264,553 (GRCm39) |
|
probably null |
Het |
| Hpdl |
A |
T |
4: 116,678,039 (GRCm39) |
S141T |
probably benign |
Het |
| Klhl29 |
A |
G |
12: 5,140,669 (GRCm39) |
S658P |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,220,565 (GRCm39) |
I1065N |
probably damaging |
Het |
| Lrrn2 |
G |
T |
1: 132,864,899 (GRCm39) |
|
probably benign |
Het |
| Marchf9 |
T |
A |
10: 126,894,172 (GRCm39) |
I144F |
probably benign |
Het |
| Mtnr1a |
A |
G |
8: 45,540,974 (GRCm39) |
I312V |
possibly damaging |
Het |
| Ngf |
T |
A |
3: 102,427,669 (GRCm39) |
F139L |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,330,866 (GRCm39) |
I2318V |
probably benign |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Nphs1 |
A |
G |
7: 30,186,050 (GRCm39) |
D1227G |
probably benign |
Het |
| Olfm3 |
C |
A |
3: 114,915,924 (GRCm39) |
N285K |
probably benign |
Het |
| Or1j1 |
C |
A |
2: 36,702,693 (GRCm39) |
S137I |
probably benign |
Het |
| Or4f60 |
T |
A |
2: 111,902,722 (GRCm39) |
I69F |
probably benign |
Het |
| Or7g35 |
G |
A |
9: 19,496,195 (GRCm39) |
D121N |
probably damaging |
Het |
| Or8b12i |
A |
G |
9: 20,082,091 (GRCm39) |
Y259H |
probably damaging |
Het |
| Or8b39 |
C |
T |
9: 37,996,927 (GRCm39) |
S265F |
possibly damaging |
Het |
| Osbp2 |
A |
G |
11: 3,813,486 (GRCm39) |
S128P |
probably benign |
Het |
| Otop2 |
A |
T |
11: 115,217,685 (GRCm39) |
M174L |
probably damaging |
Het |
| Pard3 |
A |
G |
8: 128,115,914 (GRCm39) |
T668A |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,617,685 (GRCm39) |
T967A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,669,065 (GRCm39) |
V52A |
probably damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,884,643 (GRCm39) |
K64R |
probably damaging |
Het |
| Pxn |
T |
C |
5: 115,682,593 (GRCm39) |
W69R |
possibly damaging |
Het |
| Rai14 |
T |
C |
15: 10,575,206 (GRCm39) |
D584G |
probably damaging |
Het |
| Safb |
G |
A |
17: 56,906,000 (GRCm39) |
|
probably benign |
Het |
| Serinc2 |
A |
C |
4: 130,158,869 (GRCm39) |
L10R |
probably damaging |
Het |
| Serpinb12 |
A |
T |
1: 106,874,431 (GRCm39) |
H52L |
probably benign |
Het |
| Serpinb9h |
G |
A |
13: 33,579,812 (GRCm39) |
C20Y |
probably damaging |
Het |
| Serpinf2 |
A |
G |
11: 75,326,765 (GRCm39) |
Y273H |
probably damaging |
Het |
| Slc2a10 |
T |
A |
2: 165,356,660 (GRCm39) |
S107T |
probably benign |
Het |
| Slc41a3 |
T |
C |
6: 90,617,928 (GRCm39) |
L318P |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,686,854 (GRCm39) |
I74F |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,067,055 (GRCm39) |
G788D |
probably damaging |
Het |
| Snx7 |
A |
G |
3: 117,640,272 (GRCm39) |
I79T |
probably benign |
Het |
| Sox11 |
G |
T |
12: 27,391,823 (GRCm39) |
D195E |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,999,074 (GRCm39) |
L43P |
probably damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,837 (GRCm39) |
I215T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,660,942 (GRCm39) |
V7422I |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,453,357 (GRCm39) |
|
probably null |
Het |
| Wdr17 |
T |
C |
8: 55,115,904 (GRCm39) |
D633G |
probably damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,683,239 (GRCm39) |
M445K |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,481,102 (GRCm39) |
F257L |
probably damaging |
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 |
|
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 |
|
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'- GGCTGAATGCATTAACAAGGCT -3'
(R):5'- TCTAGTGGCTATAGTCTCAGCTT -3'
Sequencing Primer
(F):5'- GCATTAACAAGGCTGCTGTTTC -3'
(R):5'- CGCATACTTCGAACCTGGTATAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation