Incidental Mutation 'IGL02754:Lvrn'
| ID |
306352 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lvrn
|
| Ensembl Gene |
ENSMUSG00000024481 |
| Gene Name |
laeverin |
| Synonyms |
4833403I15Rik, Aqpep |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.374)
|
| Stock # |
IGL02754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
46983105-47040309 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 47023971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 773
(Q773*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025358]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025358
AA Change: Q773*
|
| SMART Domains |
Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: Q773*
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AW551984 |
T |
A |
9: 39,507,922 (GRCm39) |
R405* |
probably null |
Het |
| AW551984 |
C |
T |
9: 39,504,624 (GRCm39) |
|
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,197,481 (GRCm39) |
E968G |
possibly damaging |
Het |
| Ccdc68 |
T |
C |
18: 70,076,935 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
A |
19: 4,889,889 (GRCm39) |
L127H |
probably damaging |
Het |
| Cdk5r1 |
G |
T |
11: 80,368,569 (GRCm39) |
A79S |
probably benign |
Het |
| Cdyl |
A |
T |
13: 35,867,725 (GRCm39) |
|
probably benign |
Het |
| Cfdp1 |
A |
G |
8: 112,580,766 (GRCm39) |
|
probably benign |
Het |
| Chi3l1 |
A |
T |
1: 134,111,339 (GRCm39) |
I62F |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,481,706 (GRCm39) |
I789K |
probably benign |
Het |
| Cobl |
T |
C |
11: 12,204,371 (GRCm39) |
K695R |
probably damaging |
Het |
| Cobl |
C |
A |
11: 12,204,370 (GRCm39) |
K752N |
probably damaging |
Het |
| Cstdc5 |
G |
A |
16: 36,179,899 (GRCm39) |
P73S |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,165,915 (GRCm39) |
|
probably null |
Het |
| Ece2 |
A |
T |
16: 20,451,398 (GRCm39) |
I197F |
probably damaging |
Het |
| Eif2b5 |
T |
G |
16: 20,321,536 (GRCm39) |
V363G |
possibly damaging |
Het |
| Gca |
T |
C |
2: 62,502,702 (GRCm39) |
S37P |
probably benign |
Het |
| Ghsr |
A |
C |
3: 27,426,645 (GRCm39) |
I234L |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,808,723 (GRCm39) |
I158F |
possibly damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,617,747 (GRCm39) |
D178E |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,747,246 (GRCm39) |
E461G |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,547,057 (GRCm39) |
N531I |
possibly damaging |
Het |
| Insl6 |
G |
T |
19: 29,302,529 (GRCm39) |
Q63K |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,691,952 (GRCm39) |
|
probably null |
Het |
| Mterf1b |
T |
C |
5: 4,246,478 (GRCm39) |
F40L |
possibly damaging |
Het |
| Nrg1 |
G |
A |
8: 32,316,391 (GRCm39) |
|
probably benign |
Het |
| Or10ak13 |
T |
A |
4: 118,639,117 (GRCm39) |
I222F |
possibly damaging |
Het |
| Or1n1 |
T |
A |
2: 36,750,232 (GRCm39) |
I43F |
probably damaging |
Het |
| Or5p79 |
T |
C |
7: 108,221,880 (GRCm39) |
I287T |
possibly damaging |
Het |
| Pax5 |
C |
T |
4: 44,570,059 (GRCm39) |
V319I |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,956,307 (GRCm39) |
T321S |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,212,676 (GRCm39) |
E660G |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,943,428 (GRCm39) |
M1T |
probably null |
Het |
| Prickle1 |
C |
T |
15: 93,399,034 (GRCm39) |
S598N |
possibly damaging |
Het |
| Prtn3 |
A |
G |
10: 79,716,932 (GRCm39) |
Q99R |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,592,883 (GRCm39) |
V89A |
probably damaging |
Het |
| Ret |
T |
C |
6: 118,153,213 (GRCm39) |
Y485C |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,379,124 (GRCm39) |
F980I |
possibly damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,140,279 (GRCm39) |
Y228C |
probably damaging |
Het |
| Tex10 |
C |
T |
4: 48,435,028 (GRCm39) |
C779Y |
possibly damaging |
Het |
| Tfdp2 |
T |
G |
9: 96,199,592 (GRCm39) |
S285A |
probably benign |
Het |
| Thsd4 |
T |
A |
9: 59,896,380 (GRCm39) |
|
probably benign |
Het |
| Tmem106a |
A |
C |
11: 101,481,219 (GRCm39) |
E242D |
probably benign |
Het |
| Ttc22 |
T |
C |
4: 106,495,669 (GRCm39) |
V341A |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,138,095 (GRCm39) |
S1151T |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
| Vmn1r206 |
A |
T |
13: 22,805,060 (GRCm39) |
L49* |
probably null |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,887 (GRCm39) |
F21Y |
probably benign |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,886 (GRCm39) |
F21L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,134 (GRCm39) |
C241* |
probably null |
Het |
| Zmym6 |
T |
A |
4: 127,003,764 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation