Incidental Mutation 'R7190:Lvrn'
ID |
559567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lvrn
|
Ensembl Gene |
ENSMUSG00000024481 |
Gene Name |
laeverin |
Synonyms |
4833403I15Rik, Aqpep |
MMRRC Submission |
045273-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.342)
|
Stock # |
R7190 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
46983105-47040309 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47033570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 927
(D927G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025358
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025358]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025358
AA Change: D927G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000025358 Gene: ENSMUSG00000024481 AA Change: D927G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
Add3 |
C |
T |
19: 53,205,330 (GRCm39) |
R27* |
probably null |
Het |
Armc3 |
T |
A |
2: 19,297,947 (GRCm39) |
Y573N |
probably damaging |
Het |
Bod1l |
A |
C |
5: 41,977,281 (GRCm39) |
N1344K |
probably benign |
Het |
Camta1 |
T |
G |
4: 151,232,980 (GRCm39) |
N231T |
possibly damaging |
Het |
Capza2 |
T |
A |
6: 17,654,120 (GRCm39) |
Y57* |
probably null |
Het |
Ccdc168 |
A |
C |
1: 44,100,775 (GRCm39) |
S108A |
probably benign |
Het |
Ccdc186 |
T |
A |
19: 56,780,432 (GRCm39) |
I871F |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,359,574 (GRCm39) |
|
probably null |
Het |
Dnah2 |
G |
T |
11: 69,439,923 (GRCm39) |
|
probably null |
Het |
Fhod3 |
T |
C |
18: 25,223,812 (GRCm39) |
F1053L |
probably damaging |
Het |
Foxj1 |
A |
G |
11: 116,223,201 (GRCm39) |
Y201H |
possibly damaging |
Het |
Gatad2b |
T |
A |
3: 90,257,722 (GRCm39) |
I210N |
probably benign |
Het |
Gba1 |
T |
A |
3: 89,111,669 (GRCm39) |
I112N |
probably damaging |
Het |
Gbp2 |
T |
C |
3: 142,339,208 (GRCm39) |
V420A |
probably benign |
Het |
Golga3 |
T |
A |
5: 110,357,721 (GRCm39) |
H1072Q |
probably damaging |
Het |
Gpr150 |
C |
T |
13: 76,203,992 (GRCm39) |
A318T |
probably benign |
Het |
Gpr6 |
T |
C |
10: 40,946,956 (GRCm39) |
N209D |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,709,946 (GRCm39) |
N1200S |
possibly damaging |
Het |
Ifi207 |
G |
A |
1: 173,557,818 (GRCm39) |
H307Y |
unknown |
Het |
Il20ra |
A |
T |
10: 19,618,689 (GRCm39) |
I46F |
probably damaging |
Het |
Nlrc4 |
G |
T |
17: 74,752,198 (GRCm39) |
D728E |
probably damaging |
Het |
Nup107 |
T |
C |
10: 117,598,040 (GRCm39) |
D630G |
probably benign |
Het |
Or1e19 |
A |
T |
11: 73,315,990 (GRCm39) |
I273N |
probably benign |
Het |
Or6c5c |
T |
C |
10: 129,298,626 (GRCm39) |
I27T |
probably benign |
Het |
Pclo |
C |
A |
5: 14,729,743 (GRCm39) |
A2867D |
unknown |
Het |
Perm1 |
A |
G |
4: 156,304,272 (GRCm39) |
T754A |
possibly damaging |
Het |
Plpbp |
G |
T |
8: 27,541,325 (GRCm39) |
V162L |
probably benign |
Het |
Plscr4 |
A |
T |
9: 92,370,694 (GRCm39) |
E220D |
probably benign |
Het |
Ppp2r3d |
A |
T |
9: 101,089,726 (GRCm39) |
M199K |
probably benign |
Het |
Pramel38 |
T |
G |
5: 94,366,096 (GRCm39) |
N71K |
probably benign |
Het |
Rassf6 |
T |
C |
5: 90,754,666 (GRCm39) |
E204G |
probably damaging |
Het |
Reln |
A |
C |
5: 22,252,945 (GRCm39) |
D667E |
probably damaging |
Het |
Rere |
A |
G |
4: 150,695,410 (GRCm39) |
I462V |
unknown |
Het |
Rpain |
A |
G |
11: 70,862,735 (GRCm39) |
E76G |
possibly damaging |
Het |
Strc |
T |
G |
2: 121,199,507 (GRCm39) |
I1311L |
probably benign |
Het |
Svil |
A |
G |
18: 5,092,937 (GRCm39) |
M1385V |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,113,361 (GRCm39) |
D1083E |
probably benign |
Het |
Szt2 |
T |
A |
4: 118,246,203 (GRCm39) |
H986L |
probably damaging |
Het |
Tcl1b2 |
G |
T |
12: 105,113,493 (GRCm39) |
|
probably null |
Het |
Thy1 |
T |
A |
9: 43,958,222 (GRCm39) |
S117T |
possibly damaging |
Het |
Tmem183a |
A |
T |
1: 134,282,496 (GRCm39) |
I203N |
probably damaging |
Het |
Tmprss11g |
T |
C |
5: 86,644,491 (GRCm39) |
I118V |
probably benign |
Het |
Tsen34 |
T |
C |
7: 3,697,806 (GRCm39) |
V69A |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,717,143 (GRCm39) |
Q7506R |
unknown |
Het |
Vmn1r184 |
T |
C |
7: 25,967,105 (GRCm39) |
S284P |
probably damaging |
Het |
Wdr19 |
A |
G |
5: 65,398,205 (GRCm39) |
D810G |
probably benign |
Het |
Zer1 |
T |
C |
2: 29,993,444 (GRCm39) |
D554G |
probably damaging |
Het |
Zfp626 |
A |
T |
7: 27,517,768 (GRCm39) |
T250S |
probably benign |
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 |
R7315:Lvrn
|
UTSW |
18 |
47,010,051 (GRCm39) |
missense |
probably benign |
0.34 |
R8293:Lvrn
|
UTSW |
18 |
46,983,632 (GRCm39) |
missense |
possibly damaging |
0.75 |
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'- AGATGAATAGATGCCTATAATTGTTGC -3'
(R):5'- GCACTAACAAAGCATAGGGAGAT -3'
Sequencing Primer
(F):5'- GCATAACAGATATCCTACTTAAAGGC -3'
(R):5'- CTAACAAAGCATAGGGAGATGATTC -3'
|
Posted On |
2019-06-26 |