Incidental Mutation 'R4202:Lancl2'
| ID |
318791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lancl2
|
| Ensembl Gene |
ENSMUSG00000062190 |
| Gene Name |
LanC (bacterial lantibiotic synthetase component C)-like 2 |
| Synonyms |
1700003F10Rik |
| MMRRC Submission |
041032-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4202 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57679525-57716424 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57689977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 61
(V61D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050077]
[ENSMUST00000072954]
[ENSMUST00000153777]
|
| AlphaFold |
Q9JJK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050077
AA Change: V70D
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000052146
Gene: ENSMUSG00000062190
AA Change: V70D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
LANC_like
|
96 |
444 |
2.51e-148 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072954
AA Change: V70D
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000072723
Gene: ENSMUSG00000062190
AA Change: V70D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
LANC_like
|
96 |
444 |
2.51e-148 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153777
AA Change: V61D
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000121377
Gene: ENSMUSG00000062190
AA Change: V61D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
LANC_like
|
87 |
435 |
2.51e-148 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (33/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
T |
15: 80,836,417 (GRCm39) |
T58I |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,226,430 (GRCm39) |
|
probably null |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,251 (GRCm39) |
S166P |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,959,701 (GRCm39) |
F816L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,463 (GRCm39) |
Y6C |
probably damaging |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Gmeb2 |
A |
G |
2: 180,895,766 (GRCm39) |
V468A |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,218,201 (GRCm39) |
S416P |
possibly damaging |
Het |
| Hormad1 |
G |
A |
3: 95,492,509 (GRCm39) |
R362H |
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,306,669 (GRCm39) |
D287G |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or7a42 |
T |
C |
10: 78,791,129 (GRCm39) |
V30A |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 109,029,437 (GRCm39) |
|
probably benign |
Het |
| Oser1 |
T |
C |
2: 163,253,375 (GRCm39) |
T45A |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,168,112 (GRCm39) |
S41P |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Prss43 |
T |
A |
9: 110,656,529 (GRCm39) |
V72D |
probably benign |
Het |
| Sdhb |
T |
A |
4: 140,706,379 (GRCm39) |
M272K |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,410 (GRCm39) |
M279V |
possibly damaging |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,417,272 (GRCm39) |
N198D |
probably damaging |
Het |
|
| Other mutations in Lancl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Lancl2
|
APN |
6 |
57,701,522 (GRCm39) |
splice site |
probably benign |
|
|
IGL00469:Lancl2
|
APN |
6 |
57,711,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00568:Lancl2
|
APN |
6 |
57,700,470 (GRCm39) |
splice site |
probably benign |
|
|
IGL01527:Lancl2
|
APN |
6 |
57,709,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02086:Lancl2
|
APN |
6 |
57,711,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Lancl2
|
UTSW |
6 |
57,680,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4468:Lancl2
|
UTSW |
6 |
57,690,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4469:Lancl2
|
UTSW |
6 |
57,690,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4729:Lancl2
|
UTSW |
6 |
57,714,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Lancl2
|
UTSW |
6 |
57,709,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5296:Lancl2
|
UTSW |
6 |
57,701,567 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5615:Lancl2
|
UTSW |
6 |
57,699,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Lancl2
|
UTSW |
6 |
57,699,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6784:Lancl2
|
UTSW |
6 |
57,680,240 (GRCm39) |
missense |
probably benign |
|
|
R6873:Lancl2
|
UTSW |
6 |
57,699,642 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7363:Lancl2
|
UTSW |
6 |
57,699,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8018:Lancl2
|
UTSW |
6 |
57,690,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8204:Lancl2
|
UTSW |
6 |
57,714,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9212:Lancl2
|
UTSW |
6 |
57,714,673 (GRCm39) |
missense |
probably benign |
|
|
R9794:Lancl2
|
UTSW |
6 |
57,714,708 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTCAAATCATTTGCTTTTCTTTTG -3'
(R):5'- AGAGAATGTCAAAGCCTCAGC -3'
Sequencing Primer
(F):5'- AAATCATTTGCTTTTCTTTTGTTCCC -3'
(R):5'- TCAGCTGATACACCATAGTTCAGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation