Incidental Mutation 'R4468:Lancl2'
| ID |
329272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lancl2
|
| Ensembl Gene |
ENSMUSG00000062190 |
| Gene Name |
LanC (bacterial lantibiotic synthetase component C)-like 2 |
| Synonyms |
1700003F10Rik |
| MMRRC Submission |
041725-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4468 (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 57690019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 75
(L75H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050077]
[ENSMUST00000072954]
[ENSMUST00000153777]
|
| AlphaFold |
Q9JJK2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050077
AA Change: L84H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052146
Gene: ENSMUSG00000062190
AA Change: L84H
| 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 damaging
Transcript: ENSMUST00000072954
AA Change: L84H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072723
Gene: ENSMUSG00000062190
AA Change: L84H
| 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 damaging
Transcript: ENSMUST00000153777
AA Change: L75H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121377
Gene: ENSMUSG00000062190
AA Change: L75H
| 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 |
0.7746 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
T |
11: 116,487,781 (GRCm39) |
D160V |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,334,914 (GRCm39) |
Y1962C |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,522,375 (GRCm39) |
M5921L |
probably benign |
Het |
| Bmp2 |
T |
C |
2: 133,396,374 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
| Ccdc33 |
G |
T |
9: 57,977,155 (GRCm39) |
T282K |
possibly damaging |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,629,415 (GRCm39) |
I381T |
probably damaging |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,468 (GRCm39) |
Q383* |
probably null |
Het |
| Igkv6-15 |
A |
G |
6: 70,383,957 (GRCm39) |
V7A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,737 (GRCm39) |
V143M |
probably benign |
Het |
| Or7g29 |
C |
T |
9: 19,286,944 (GRCm39) |
V78I |
probably benign |
Het |
| Pcdha5 |
T |
C |
18: 37,095,233 (GRCm39) |
S581P |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,173,037 (GRCm39) |
|
probably null |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,668 (GRCm39) |
W100* |
probably null |
Het |
| Prxl2b |
T |
G |
4: 154,981,507 (GRCm39) |
K190T |
probably benign |
Het |
| Pwwp3a |
C |
T |
10: 80,076,570 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
G |
A |
19: 4,250,293 (GRCm39) |
H143Y |
probably benign |
Het |
| Riox2 |
T |
A |
16: 59,296,357 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,994,452 (GRCm39) |
Y1276F |
probably damaging |
Het |
| Rps12-ps24 |
A |
G |
8: 36,493,268 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
G |
A |
9: 119,584,053 (GRCm39) |
L1521F |
probably damaging |
Het |
| Shoc2 |
A |
G |
19: 54,014,845 (GRCm39) |
Y346C |
probably damaging |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,992,682 (GRCm39) |
D1726V |
probably damaging |
Het |
| Tns4 |
A |
T |
11: 98,961,241 (GRCm39) |
C646S |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
| Wls |
C |
A |
3: 159,578,564 (GRCm39) |
A42E |
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 |
|
R4202:Lancl2
|
UTSW |
6 |
57,689,977 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- CCAGAATAGGCTCTAGTCACCTATG -3'
(R):5'- GACAGTAGTTCTTCAGCAACAAAAC -3'
Sequencing Primer
(F):5'- AGGCTCTAGTCACCTATGATATGCTG -3'
(R):5'- AAGCCTCAGCTGATACAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation