Incidental Mutation 'R8293:Lvrn'
| ID |
638825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lvrn
|
| Ensembl Gene |
ENSMUSG00000024481 |
| Gene Name |
laeverin |
| Synonyms |
4833403I15Rik, Aqpep |
| MMRRC Submission |
067783-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.342)
|
| Stock # |
R8293 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
46983105-47040309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46983632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 125
(T125K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025358]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025358
AA Change: T125K
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: T125K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M1
|
94 |
504 |
1.6e-110 |
PFAM |
|
Pfam:ERAP1_C
|
645 |
968 |
2.5e-60 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,061,864 (GRCm39) |
S105P |
possibly damaging |
Het |
| Acsm1 |
T |
G |
7: 119,237,319 (GRCm39) |
S211A |
possibly damaging |
Het |
| Adam4 |
T |
A |
12: 81,467,185 (GRCm39) |
R479* |
probably null |
Het |
| Agap3 |
A |
C |
5: 24,692,883 (GRCm39) |
S439R |
probably damaging |
Het |
| Arap1 |
A |
T |
7: 101,050,141 (GRCm39) |
H1075L |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,079,029 (GRCm39) |
E1299G |
probably benign |
Het |
| Bnip5 |
T |
C |
17: 29,121,864 (GRCm39) |
K468E |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,845,570 (GRCm39) |
I329F |
probably damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,591,796 (GRCm39) |
T115S |
probably damaging |
Het |
| Cd200r1 |
A |
G |
16: 44,610,084 (GRCm39) |
N101S |
probably benign |
Het |
| Ces2b |
A |
C |
8: 105,559,258 (GRCm39) |
T40P |
unknown |
Het |
| Cfap221 |
A |
G |
1: 119,909,504 (GRCm39) |
V156A |
possibly damaging |
Het |
| Chrm4 |
C |
T |
2: 91,758,563 (GRCm39) |
P324S |
probably benign |
Het |
| Chrna1 |
T |
A |
2: 73,400,850 (GRCm39) |
M227L |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,952,075 (GRCm39) |
D639G |
probably damaging |
Het |
| Cts8 |
A |
G |
13: 61,401,882 (GRCm39) |
V5A |
probably benign |
Het |
| Cxcl2 |
A |
T |
5: 91,052,088 (GRCm39) |
T65S |
probably damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,552,411 (GRCm39) |
R368L |
probably benign |
Het |
| D630023F18Rik |
A |
T |
1: 65,147,939 (GRCm39) |
S205T |
probably benign |
Het |
| Dagla |
A |
T |
19: 10,229,401 (GRCm39) |
|
probably null |
Het |
| Dtnbp1 |
G |
A |
13: 45,084,615 (GRCm39) |
T175I |
probably benign |
Het |
| Dtx3 |
A |
G |
10: 127,026,882 (GRCm39) |
L332P |
probably damaging |
Het |
| E2f4 |
A |
G |
8: 106,024,451 (GRCm39) |
T27A |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,856,758 (GRCm39) |
F1163L |
unknown |
Het |
| Fam83h |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT |
15: 75,874,624 (GRCm39) |
|
probably benign |
Het |
| Fbxo40 |
T |
C |
16: 36,790,387 (GRCm39) |
D241G |
probably benign |
Het |
| Fus |
T |
C |
7: 127,571,749 (GRCm39) |
S184P |
unknown |
Het |
| Gabarap |
C |
A |
11: 69,883,498 (GRCm39) |
T87N |
possibly damaging |
Het |
| Gbp10 |
A |
C |
5: 105,372,235 (GRCm39) |
V175G |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,646 (GRCm39) |
Y368H |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,778,011 (GRCm39) |
Y529H |
probably damaging |
Het |
| Incenp |
G |
A |
19: 9,852,497 (GRCm39) |
R714* |
probably null |
Het |
| Ms4a6c |
T |
A |
19: 11,455,660 (GRCm39) |
S156R |
probably benign |
Het |
| Nab2 |
C |
A |
10: 127,502,266 (GRCm39) |
R21L |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,136,827 (GRCm39) |
M3218K |
probably benign |
Het |
| Nwd2 |
A |
G |
5: 63,962,663 (GRCm39) |
D749G |
probably benign |
Het |
| Nxpe5 |
A |
T |
5: 138,228,804 (GRCm39) |
Q7L |
probably benign |
Het |
| Or10ak12 |
T |
A |
4: 118,666,939 (GRCm39) |
T41S |
probably benign |
Het |
| Or4f62 |
A |
T |
2: 111,986,598 (GRCm39) |
M101L |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,269 (GRCm39) |
E89D |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,095,689 (GRCm39) |
I72V |
possibly damaging |
Het |
| Pla2g5 |
A |
G |
4: 138,531,917 (GRCm39) |
I29T |
probably damaging |
Het |
| Prpf31 |
C |
T |
7: 3,643,917 (GRCm39) |
T499I |
probably damaging |
Het |
| Rnf130 |
T |
A |
11: 49,986,623 (GRCm39) |
D322E |
probably benign |
Het |
| Ros1 |
T |
C |
10: 51,964,014 (GRCm39) |
N1770D |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,428,548 (GRCm39) |
D202E |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,359 (GRCm39) |
I902M |
probably damaging |
Het |
| Slc12a8 |
A |
T |
16: 33,361,348 (GRCm39) |
M77L |
probably benign |
Het |
| Slc35f2 |
G |
A |
9: 53,724,224 (GRCm39) |
G366D |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,264,984 (GRCm39) |
D674G |
probably damaging |
Het |
| Smok2a |
A |
C |
17: 13,445,791 (GRCm39) |
E456A |
probably benign |
Het |
| Stip1 |
T |
C |
19: 7,011,618 (GRCm39) |
N139S |
probably benign |
Het |
| Taar8c |
C |
T |
10: 23,977,015 (GRCm39) |
V266M |
probably benign |
Het |
| Tank |
T |
A |
2: 61,474,758 (GRCm39) |
I204N |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,694,020 (GRCm39) |
T714A |
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,820,457 (GRCm39) |
F334I |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,693,202 (GRCm39) |
I1735V |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,645,969 (GRCm39) |
S2023T |
possibly damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,696,218 (GRCm39) |
H2741R |
|
Het |
| Wnt10a |
G |
T |
1: 74,842,376 (GRCm39) |
R284L |
probably damaging |
Het |
|
| Other mutations in Lvrn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Lvrn
|
APN |
18 |
46,997,733 (GRCm39) |
splice site |
probably benign |
|
|
IGL01532:Lvrn
|
APN |
18 |
47,033,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02430:Lvrn
|
APN |
18 |
47,027,797 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02573:Lvrn
|
APN |
18 |
47,010,016 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02592:Lvrn
|
APN |
18 |
46,983,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Lvrn
|
APN |
18 |
47,023,971 (GRCm39) |
nonsense |
probably null |
|
|
IGL03089:Lvrn
|
APN |
18 |
47,013,776 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03209:Lvrn
|
APN |
18 |
47,022,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03333:Lvrn
|
APN |
18 |
46,997,731 (GRCm39) |
splice site |
probably benign |
|
|
IGL03098:Lvrn
|
UTSW |
18 |
47,014,477 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0319:Lvrn
|
UTSW |
18 |
46,997,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Lvrn
|
UTSW |
18 |
46,983,533 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0398:Lvrn
|
UTSW |
18 |
47,013,760 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0432:Lvrn
|
UTSW |
18 |
47,038,366 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0456:Lvrn
|
UTSW |
18 |
46,997,883 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1458:Lvrn
|
UTSW |
18 |
47,015,452 (GRCm39) |
splice site |
probably benign |
|
|
R1612:Lvrn
|
UTSW |
18 |
47,027,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1935:Lvrn
|
UTSW |
18 |
47,011,387 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1936:Lvrn
|
UTSW |
18 |
47,011,387 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1959:Lvrn
|
UTSW |
18 |
47,027,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2000:Lvrn
|
UTSW |
18 |
47,038,374 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2022:Lvrn
|
UTSW |
18 |
46,999,503 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2106:Lvrn
|
UTSW |
18 |
47,011,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2197:Lvrn
|
UTSW |
18 |
47,011,409 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2371:Lvrn
|
UTSW |
18 |
47,011,230 (GRCm39) |
splice site |
probably null |
|
|
R4125:Lvrn
|
UTSW |
18 |
47,010,036 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4606:Lvrn
|
UTSW |
18 |
46,997,832 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4830:Lvrn
|
UTSW |
18 |
47,038,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Lvrn
|
UTSW |
18 |
47,026,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4900:Lvrn
|
UTSW |
18 |
47,014,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4900:Lvrn
|
UTSW |
18 |
47,026,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Lvrn
|
UTSW |
18 |
47,027,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Lvrn
|
UTSW |
18 |
47,013,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5167:Lvrn
|
UTSW |
18 |
47,013,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5527:Lvrn
|
UTSW |
18 |
47,006,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5581:Lvrn
|
UTSW |
18 |
47,023,932 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5615:Lvrn
|
UTSW |
18 |
46,983,395 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5859:Lvrn
|
UTSW |
18 |
47,026,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6149:Lvrn
|
UTSW |
18 |
47,017,499 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6183:Lvrn
|
UTSW |
18 |
46,983,752 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6378:Lvrn
|
UTSW |
18 |
47,028,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6838:Lvrn
|
UTSW |
18 |
47,023,947 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6993:Lvrn
|
UTSW |
18 |
47,015,365 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7017:Lvrn
|
UTSW |
18 |
46,983,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7168:Lvrn
|
UTSW |
18 |
47,014,389 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7190:Lvrn
|
UTSW |
18 |
47,033,570 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7315:Lvrn
|
UTSW |
18 |
47,010,051 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8375:Lvrn
|
UTSW |
18 |
46,983,289 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9563:Lvrn
|
UTSW |
18 |
47,017,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Lvrn
|
UTSW |
18 |
47,017,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Lvrn
|
UTSW |
18 |
47,017,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9585:Lvrn
|
UTSW |
18 |
47,011,411 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9599:Lvrn
|
UTSW |
18 |
46,999,494 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9694:Lvrn
|
UTSW |
18 |
47,033,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Lvrn
|
UTSW |
18 |
47,006,847 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACACCTCATTGTGGCCTC -3'
(R):5'- CCAGCACCACGAATTGCATG -3'
Sequencing Primer
(F):5'- CAGGAGTGGGCGCTACC -3'
(R):5'- ACCACGAATTGCATGTCCGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation