Incidental Mutation 'R2000:Lvrn'
| ID |
225870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lvrn
|
| Ensembl Gene |
ENSMUSG00000024481 |
| Gene Name |
laeverin |
| Synonyms |
4833403I15Rik, Aqpep |
| MMRRC Submission |
040010-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.342)
|
| Stock # |
R2000 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
46983105-47040309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47038374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 976
(N976I)
|
| 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: N976I
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: N976I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178659
|
| Meta Mutation Damage Score |
0.2801 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf2 |
T |
C |
2: 73,693,584 (GRCm39) |
|
probably null |
Het |
| Atrn |
T |
C |
2: 130,777,508 (GRCm39) |
Y186H |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,911,614 (GRCm39) |
V1528A |
possibly damaging |
Het |
| Brpf3 |
A |
C |
17: 29,040,531 (GRCm39) |
E984A |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,059,948 (GRCm39) |
N600S |
probably benign |
Het |
| Camk1d |
A |
T |
2: 5,366,836 (GRCm39) |
Y126* |
probably null |
Het |
| Casp8ap2 |
T |
A |
4: 32,634,874 (GRCm39) |
L136H |
probably damaging |
Het |
| Cd46 |
A |
G |
1: 194,760,012 (GRCm39) |
I280T |
probably benign |
Het |
| Cip2a |
A |
T |
16: 48,835,332 (GRCm39) |
Q699L |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,116 (GRCm39) |
H2374Q |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,870,160 (GRCm39) |
|
probably benign |
Het |
| Dph7 |
T |
A |
2: 24,861,653 (GRCm39) |
D355E |
probably benign |
Het |
| Dync1li1 |
C |
A |
9: 114,542,631 (GRCm39) |
F264L |
probably benign |
Het |
| Fer1l6 |
G |
A |
15: 58,474,160 (GRCm39) |
|
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,278,048 (GRCm39) |
D842G |
probably damaging |
Het |
| Fosl1 |
A |
G |
19: 5,500,383 (GRCm39) |
|
probably benign |
Het |
| Gabrr2 |
T |
A |
4: 33,084,400 (GRCm39) |
I162N |
probably damaging |
Het |
| Gata6 |
T |
C |
18: 11,054,113 (GRCm39) |
F14S |
probably benign |
Het |
| Gm15446 |
T |
C |
5: 110,090,677 (GRCm39) |
S310P |
possibly damaging |
Het |
| Gmppa |
A |
C |
1: 75,418,172 (GRCm39) |
D190A |
probably damaging |
Het |
| Gpr108 |
C |
T |
17: 57,543,712 (GRCm39) |
G455S |
probably benign |
Het |
| Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
| Gvin-ps6 |
G |
A |
7: 106,022,438 (GRCm39) |
S188L |
probably benign |
Het |
| Gzf1 |
T |
C |
2: 148,526,531 (GRCm39) |
I334T |
probably benign |
Het |
| Hadh |
A |
T |
3: 131,038,888 (GRCm39) |
I156K |
probably benign |
Het |
| Htr5a |
G |
A |
5: 28,055,887 (GRCm39) |
V293M |
possibly damaging |
Het |
| Ice1 |
C |
T |
13: 70,750,546 (GRCm39) |
V47M |
possibly damaging |
Het |
| Ifnl3 |
G |
T |
7: 28,222,354 (GRCm39) |
A32S |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,716,176 (GRCm39) |
Y978* |
probably null |
Het |
| Kif1a |
G |
T |
1: 92,982,051 (GRCm39) |
T792N |
probably damaging |
Het |
| Lgals9 |
T |
C |
11: 78,863,996 (GRCm39) |
N50D |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,297,434 (GRCm39) |
Y3176H |
probably damaging |
Het |
| Magea10 |
A |
T |
X: 71,426,379 (GRCm39) |
I205K |
probably benign |
Het |
| Myo1c |
A |
T |
11: 75,561,405 (GRCm39) |
M820L |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,102,982 (GRCm39) |
C4222* |
probably null |
Het |
| Nkain2 |
T |
A |
10: 32,766,281 (GRCm39) |
|
probably benign |
Het |
| Or10g6 |
A |
G |
9: 39,933,985 (GRCm39) |
I99V |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Parp4 |
C |
T |
14: 56,851,181 (GRCm39) |
T728M |
probably damaging |
Het |
| Pnma8a |
T |
A |
7: 16,694,964 (GRCm39) |
V273D |
probably benign |
Het |
| Ppp1r9b |
A |
G |
11: 94,887,446 (GRCm39) |
E486G |
probably damaging |
Het |
| Pth2 |
C |
A |
7: 44,831,146 (GRCm39) |
R98S |
possibly damaging |
Het |
| Ramacl |
A |
T |
13: 67,056,214 (GRCm39) |
N69I |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,971,310 (GRCm39) |
F263I |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,326,848 (GRCm39) |
I1613F |
probably damaging |
Het |
| Rsbn1l |
G |
A |
5: 21,107,368 (GRCm39) |
H549Y |
probably damaging |
Het |
| Rtl1 |
C |
A |
12: 109,560,321 (GRCm39) |
W506L |
probably damaging |
Het |
| Slc4a4 |
C |
T |
5: 89,176,206 (GRCm39) |
P59L |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,050,200 (GRCm39) |
E273G |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Ttf1 |
T |
A |
2: 28,955,197 (GRCm39) |
L187Q |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Ufsp1 |
T |
C |
5: 137,293,166 (GRCm39) |
|
probably null |
Het |
| Uox |
A |
C |
3: 146,316,154 (GRCm39) |
K30Q |
possibly damaging |
Het |
| Ush1c |
A |
G |
7: 45,870,857 (GRCm39) |
S327P |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,767,374 (GRCm39) |
L419Q |
probably damaging |
Het |
| Xrn1 |
C |
T |
9: 95,927,616 (GRCm39) |
Q1463* |
probably null |
Het |
| Yeats2 |
G |
A |
16: 20,005,141 (GRCm39) |
A393T |
probably benign |
Het |
| Zfp101 |
C |
T |
17: 33,600,491 (GRCm39) |
A422T |
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 |
|
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 |
|
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'- ATGGTTTTGCTATTTCCCAGGAAC -3'
(R):5'- ACTCTGAGTAGGAGATGGGACC -3'
Sequencing Primer
(F):5'- CCCAGGAACTCTGTTTTGATTTG -3'
(R):5'- CCGAAATAAAAGAAGCCGTGTGTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation