Incidental Mutation 'R1376:Lect2'
| ID |
186270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lect2
|
| Ensembl Gene |
ENSMUSG00000021539 |
| Gene Name |
leukocyte cell-derived chemotaxin 2 |
| Synonyms |
chondromodulin-II |
| MMRRC Submission |
039440-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R1376 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
56690277-56696315 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56690577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 133
(I133F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045428]
[ENSMUST00000062806]
[ENSMUST00000121871]
[ENSMUST00000128668]
[ENSMUST00000225183]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045428
|
| SMART Domains |
Protein: ENSMUSP00000035248
Gene: ENSMUSG00000035509
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
45 |
85 |
4.77e-11 |
SMART |
|
SCOP:d1a4ya_
|
177 |
398 |
3e-3 |
SMART |
|
Blast:LRR
|
203 |
228 |
2e-7 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062806
AA Change: I133F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000060495
Gene: ENSMUSG00000021539
AA Change: I133F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_M23
|
51 |
148 |
4.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121871
|
| SMART Domains |
Protein: ENSMUSP00000112518
Gene: ENSMUSG00000035509
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
71 |
111 |
4.77e-11 |
SMART |
|
SCOP:d1a4ya_
|
203 |
424 |
2e-3 |
SMART |
|
Blast:LRR
|
229 |
254 |
2e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128668
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225183
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 89.2%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted, 16 kDa protein that acts as a chemotactic factor to neutrophils and stimulates the growth of chondrocytes and osteoblasts. This protein has high sequence similarity to the chondromodulin repeat regions of the chicken myb-induced myeloid 1 protein. A polymorphism in this gene may be associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased hepatic NKT cell numbers, increased induced cytokine secretion, and increased sensitivity to induced hepatitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,254,735 (GRCm39) |
I362N |
possibly damaging |
Het |
| 9130023H24Rik |
A |
G |
7: 127,836,182 (GRCm39) |
V137A |
probably benign |
Het |
| Adal |
A |
G |
2: 120,983,011 (GRCm39) |
D177G |
probably damaging |
Het |
| Cdcp2 |
G |
T |
4: 106,959,956 (GRCm39) |
V124F |
possibly damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,897,088 (GRCm39) |
C685R |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,252,164 (GRCm39) |
|
probably benign |
Het |
| Cfd |
T |
C |
10: 79,727,986 (GRCm39) |
I174T |
possibly damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Ehd1 |
C |
T |
19: 6,344,418 (GRCm39) |
T226M |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,916 (GRCm39) |
V120A |
probably benign |
Het |
| Fzd1 |
G |
A |
5: 4,807,174 (GRCm39) |
T136M |
possibly damaging |
Het |
| Galntl5 |
G |
T |
5: 25,391,286 (GRCm39) |
V62F |
probably benign |
Het |
| Gm11787 |
A |
G |
4: 3,516,373 (GRCm39) |
|
noncoding transcript |
Het |
| Josd2 |
C |
A |
7: 44,120,539 (GRCm39) |
P50H |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,214,245 (GRCm39) |
T700A |
probably benign |
Het |
| Lpl |
T |
C |
8: 69,340,250 (GRCm39) |
W82R |
probably damaging |
Het |
| Man2a1 |
C |
T |
17: 64,979,038 (GRCm39) |
R523C |
possibly damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,916 (GRCm39) |
K1959E |
possibly damaging |
Het |
| Minar1 |
T |
C |
9: 89,473,299 (GRCm39) |
T871A |
probably damaging |
Het |
| Or10ag57 |
A |
G |
2: 87,218,162 (GRCm39) |
M38V |
probably benign |
Het |
| Or10ag58 |
C |
T |
2: 87,264,903 (GRCm39) |
S24L |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,650,533 (GRCm39) |
V963A |
probably damaging |
Het |
| Pdgfd |
A |
G |
9: 6,376,994 (GRCm39) |
I357V |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,189,986 (GRCm39) |
D400G |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Rimbp2 |
G |
C |
5: 128,847,355 (GRCm39) |
P931A |
possibly damaging |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Sec24a |
A |
C |
11: 51,591,740 (GRCm39) |
|
probably benign |
Het |
| Sf3b1 |
A |
T |
1: 55,058,424 (GRCm39) |
V55E |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,696 (GRCm39) |
V54A |
probably damaging |
Het |
| Taok3 |
T |
C |
5: 117,404,026 (GRCm39) |
Y734H |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,151,338 (GRCm39) |
K105E |
probably benign |
Het |
| Tuba3b |
A |
G |
6: 145,564,500 (GRCm39) |
E90G |
possibly damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Lect2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03036:Lect2
|
APN |
13 |
56,690,520 (GRCm39) |
makesense |
probably null |
|
|
R1376:Lect2
|
UTSW |
13 |
56,690,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Lect2
|
UTSW |
13 |
56,693,538 (GRCm39) |
splice site |
probably null |
|
|
R5771:Lect2
|
UTSW |
13 |
56,696,154 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7157:Lect2
|
UTSW |
13 |
56,690,803 (GRCm39) |
missense |
unknown |
|
|
R8951:Lect2
|
UTSW |
13 |
56,690,822 (GRCm39) |
intron |
probably benign |
|
|
R9548:Lect2
|
UTSW |
13 |
56,694,660 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1176:Lect2
|
UTSW |
13 |
56,696,174 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGGCCCTTTAGGCTCTTTCTCAC -3'
(R):5'- TCTGACTCAAGGCTACAGAAGCCC -3'
Sequencing Primer
(F):5'- CAGGACACATGAGAGGTCATTC -3'
(R):5'- GGCTACAGAAGCCCAAATAATCTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation