Incidental Mutation 'R6183:Lvrn'
ID |
487648 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lvrn
|
Ensembl Gene |
ENSMUSG00000024481 |
Gene Name |
laeverin |
Synonyms |
4833403I15Rik, Aqpep |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.342)
|
Stock # |
R6183 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
46983105-47040309 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46983752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 165
(N165S)
|
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: N165S
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000025358 Gene: ENSMUSG00000024481 AA Change: N165S
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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,968,718 (GRCm39) |
D352E |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,133,451 (GRCm39) |
I972L |
probably damaging |
Het |
Alg3 |
T |
C |
16: 20,429,391 (GRCm39) |
Y33C |
probably benign |
Het |
Atp1a3 |
C |
T |
7: 24,681,177 (GRCm39) |
G816D |
probably damaging |
Het |
Ccdc121 |
T |
C |
5: 31,645,320 (GRCm39) |
Y358H |
probably damaging |
Het |
Ces1g |
C |
T |
8: 94,057,867 (GRCm39) |
V145M |
possibly damaging |
Het |
Clip1 |
A |
G |
5: 123,780,667 (GRCm39) |
S339P |
probably damaging |
Het |
Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
Dennd4b |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
3: 90,182,875 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,583,726 (GRCm39) |
L3207Q |
probably damaging |
Het |
Efcab5 |
T |
C |
11: 77,028,084 (GRCm39) |
T416A |
probably benign |
Het |
Ephb1 |
A |
T |
9: 102,072,524 (GRCm39) |
I85N |
probably damaging |
Het |
Etnppl |
T |
C |
3: 130,413,966 (GRCm39) |
C22R |
probably damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,432,949 (GRCm39) |
T11A |
probably benign |
Het |
Gm5458 |
C |
A |
14: 19,649,712 (GRCm39) |
V171L |
probably damaging |
Het |
Helb |
G |
T |
10: 119,948,903 (GRCm39) |
|
probably null |
Het |
Hnrnpll |
A |
G |
17: 80,357,305 (GRCm39) |
V237A |
possibly damaging |
Het |
Hps3 |
T |
C |
3: 20,063,032 (GRCm39) |
T712A |
probably benign |
Het |
Ibsp |
A |
G |
5: 104,453,896 (GRCm39) |
E78G |
possibly damaging |
Het |
Ighv1-62-2 |
G |
A |
12: 115,410,056 (GRCm39) |
A111V |
probably damaging |
Het |
Igkv4-63 |
G |
T |
6: 69,355,108 (GRCm39) |
Q58K |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,851,293 (GRCm39) |
Y226C |
probably damaging |
Het |
Khdc1a |
A |
T |
1: 21,420,332 (GRCm39) |
D30V |
possibly damaging |
Het |
Krtap5-5 |
C |
A |
7: 141,783,524 (GRCm39) |
C42F |
unknown |
Het |
Lmod3 |
T |
C |
6: 97,229,514 (GRCm39) |
N7D |
probably damaging |
Het |
Ms4a4c |
A |
G |
19: 11,403,593 (GRCm39) |
T192A |
possibly damaging |
Het |
Ncald |
A |
T |
15: 37,397,476 (GRCm39) |
V68D |
probably damaging |
Het |
Or4e5 |
T |
A |
14: 52,728,188 (GRCm39) |
T78S |
probably benign |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,315 (GRCm39) |
I162F |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,834 (GRCm39) |
T4A |
possibly damaging |
Het |
Qrich2 |
T |
A |
11: 116,348,955 (GRCm39) |
|
probably benign |
Het |
Rgl1 |
C |
T |
1: 152,462,321 (GRCm39) |
E60K |
possibly damaging |
Het |
Rtn1 |
A |
T |
12: 72,455,265 (GRCm39) |
W21R |
probably benign |
Het |
Scart2 |
A |
G |
7: 139,875,947 (GRCm39) |
T404A |
possibly damaging |
Het |
Spast |
A |
G |
17: 74,680,353 (GRCm39) |
I438M |
probably damaging |
Het |
Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Tas1r1 |
A |
G |
4: 152,116,998 (GRCm39) |
I212T |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,432,768 (GRCm39) |
N439D |
probably damaging |
Het |
Tjp2 |
C |
T |
19: 24,078,155 (GRCm39) |
A913T |
probably damaging |
Het |
Tnfrsf26 |
A |
G |
7: 143,165,494 (GRCm39) |
L47P |
probably damaging |
Het |
Unc13a |
A |
T |
8: 72,097,310 (GRCm39) |
S1195T |
probably damaging |
Het |
Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
Vmn1r54 |
T |
A |
6: 90,246,272 (GRCm39) |
M62K |
possibly damaging |
Het |
Vmn2r125 |
A |
T |
4: 156,702,364 (GRCm39) |
D50V |
probably damaging |
Het |
Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,664,192 (GRCm39) |
N470K |
probably damaging |
Het |
Zc3h7a |
A |
T |
16: 10,965,234 (GRCm39) |
I633N |
possibly 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 |
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 |
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'- TCCCACTTCACTATGATCTGGAGC -3'
(R):5'- CATAGCCCTTACCTGAGCTC -3'
Sequencing Primer
(F):5'- CACTATGATCTGGAGCTGTGGCC -3'
(R):5'- CTGAGCTCATCTTCATCATGGTAGAG -3'
|
Posted On |
2017-10-10 |