Incidental Mutation 'R8375:Lvrn'
| ID |
646654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lvrn
|
| Ensembl Gene |
ENSMUSG00000024481 |
| Gene Name |
laeverin |
| Synonyms |
4833403I15Rik, Aqpep |
| MMRRC Submission |
067743-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.374)
|
| Stock # |
R8375 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
46983105-47040309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46983289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 11
(V11M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025358]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025358
AA Change: V11M
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025358
Gene: ENSMUSG00000024481
AA Change: V11M
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,265,416 (GRCm39) |
F3030L |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,347,841 (GRCm39) |
I3565F |
probably damaging |
Het |
| Ak7 |
A |
T |
12: 105,708,600 (GRCm39) |
I352F |
probably damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Anapc7 |
C |
T |
5: 122,566,342 (GRCm39) |
P84S |
probably benign |
Het |
| Apol7a |
A |
T |
15: 77,273,547 (GRCm39) |
I305N |
probably damaging |
Het |
| Asf1b |
C |
T |
8: 84,694,559 (GRCm39) |
R108C |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,421,989 (GRCm39) |
E903D |
probably benign |
Het |
| Bpifb3 |
A |
T |
2: 153,767,715 (GRCm39) |
I263F |
probably benign |
Het |
| Cavin3 |
T |
A |
7: 105,130,228 (GRCm39) |
S195C |
probably damaging |
Het |
| Chsy3 |
C |
A |
18: 59,312,585 (GRCm39) |
R353S |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,481,890 (GRCm39) |
V78A |
unknown |
Het |
| Cpxm1 |
C |
T |
2: 130,236,146 (GRCm39) |
E339K |
probably damaging |
Het |
| Cyp26c1 |
G |
T |
19: 37,675,660 (GRCm39) |
A175S |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,327,489 (GRCm39) |
T2069S |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,057,383 (GRCm39) |
F393S |
probably damaging |
Het |
| Fstl4 |
T |
C |
11: 53,053,502 (GRCm39) |
S385P |
possibly damaging |
Het |
| Gabpb2 |
G |
A |
3: 95,112,109 (GRCm39) |
S40L |
probably damaging |
Het |
| Gabrb1 |
T |
C |
5: 72,187,172 (GRCm39) |
I155T |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,873,731 (GRCm39) |
N1668Y |
probably benign |
Het |
| Kcnh1 |
A |
G |
1: 192,117,124 (GRCm39) |
H670R |
probably damaging |
Het |
| Krt31 |
G |
A |
11: 99,938,603 (GRCm39) |
A330V |
probably benign |
Het |
| Lrfn2 |
T |
A |
17: 49,403,851 (GRCm39) |
M658K |
possibly damaging |
Het |
| Lrrc1 |
T |
A |
9: 77,365,129 (GRCm39) |
N184I |
probably damaging |
Het |
| Lrrc69 |
T |
C |
4: 14,795,994 (GRCm39) |
I18V |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,063,801 (GRCm39) |
S1199P |
possibly damaging |
Het |
| Mib1 |
T |
C |
18: 10,768,233 (GRCm39) |
|
probably null |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Myo18b |
C |
T |
5: 112,908,259 (GRCm39) |
V2005I |
possibly damaging |
Het |
| Myo6 |
T |
A |
9: 80,162,206 (GRCm39) |
H314Q |
unknown |
Het |
| Nat8f6 |
A |
C |
6: 85,785,888 (GRCm39) |
M87R |
probably benign |
Het |
| Net1 |
A |
G |
13: 3,943,458 (GRCm39) |
|
probably benign |
Het |
| Notch4 |
C |
T |
17: 34,787,228 (GRCm39) |
T294I |
possibly damaging |
Het |
| Nrros |
A |
G |
16: 31,966,456 (GRCm39) |
L36P |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,037 (GRCm39) |
M277V |
probably benign |
Het |
| Or8c9 |
G |
C |
9: 38,241,231 (GRCm39) |
W113S |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,525,407 (GRCm39) |
H202R |
probably damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,316,538 (GRCm39) |
M284K |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,710 (GRCm39) |
Y107* |
probably null |
Het |
| Rab5c |
G |
T |
11: 100,607,609 (GRCm39) |
N188K |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,005,532 (GRCm39) |
S1259R |
probably damaging |
Het |
| Rrm2 |
T |
C |
12: 24,762,751 (GRCm39) |
V298A |
probably damaging |
Het |
| Rtn4rl2 |
A |
T |
2: 84,711,033 (GRCm39) |
L77H |
possibly damaging |
Het |
| Skint4 |
A |
G |
4: 111,975,173 (GRCm39) |
I44M |
probably damaging |
Het |
| Spaca7 |
T |
C |
8: 12,648,998 (GRCm39) |
I164T |
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,800,568 (GRCm39) |
S153G |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,123,786 (GRCm39) |
S358P |
probably benign |
Het |
| Stx5a |
T |
C |
19: 8,732,462 (GRCm39) |
M377T |
unknown |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,599,844 (GRCm39) |
D1048G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,557,509 (GRCm39) |
W29862R |
probably damaging |
Het |
| Vmn1r203 |
T |
G |
13: 22,709,154 (GRCm39) |
*312G |
probably null |
Het |
| Vmn2r74 |
T |
G |
7: 85,601,914 (GRCm39) |
T575P |
possibly damaging |
Het |
| Zfp14 |
A |
T |
7: 29,738,579 (GRCm39) |
N135K |
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 |
|
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 |
|
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'- AGGTAGGCAGGATCTGGATCTG -3'
(R):5'- TCATAGTGAAGTGGGACAAGCC -3'
Sequencing Primer
(F):5'- AAAACCGTGGTCCCAGGC -3'
(R):5'- ACGGAGGTCCCAAGTCTTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation