Incidental Mutation 'IGL01950:Clec1b'
ID |
181288 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Clec1b
|
Ensembl Gene |
ENSMUSG00000030159 |
Gene Name |
C-type lectin domain family 1, member b |
Synonyms |
Clec-2, 1810061I13Rik, Clec2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL01950
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
129374260-129382376 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 129377043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 29
(W29R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032262]
[ENSMUST00000112079]
[ENSMUST00000112081]
|
AlphaFold |
Q9JL99 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032262
AA Change: W29R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032262 Gene: ENSMUSG00000030159 AA Change: W29R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
28 |
50 |
N/A |
INTRINSIC |
CLECT
|
102 |
217 |
1.59e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112079
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112081
|
SMART Domains |
Protein: ENSMUSP00000107712 Gene: ENSMUSG00000030159
Domain | Start | End | E-Value | Type |
CLECT
|
70 |
185 |
1.59e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133061
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit congestion and hemorrhages during embryogenesis with prenatal and postnatal lethality. Mice homozygous for another knock-out allele exhibit blood-lymph mixing, impaired PDPN-Fc-mediated platelet activation, and intestinal edema. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adm |
G |
A |
7: 110,228,107 (GRCm39) |
R96H |
probably damaging |
Het |
Aebp1 |
C |
T |
11: 5,819,108 (GRCm39) |
T198I |
probably benign |
Het |
Arid3b |
A |
T |
9: 57,702,257 (GRCm39) |
I500N |
probably damaging |
Het |
Cyp2e1 |
T |
C |
7: 140,344,874 (GRCm39) |
|
probably null |
Het |
Dnah5 |
A |
G |
15: 28,290,435 (GRCm39) |
E1275G |
probably null |
Het |
Dnajc13 |
A |
T |
9: 104,067,631 (GRCm39) |
I1171N |
possibly damaging |
Het |
Dpf3 |
T |
G |
12: 83,371,723 (GRCm39) |
T171P |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,151,173 (GRCm39) |
D57G |
probably damaging |
Het |
Kcnc2 |
T |
G |
10: 112,297,980 (GRCm39) |
|
probably benign |
Het |
Kcnj11 |
A |
T |
7: 45,748,573 (GRCm39) |
F250Y |
probably damaging |
Het |
Kirrel3 |
C |
T |
9: 34,939,625 (GRCm39) |
|
probably benign |
Het |
Lmbrd1 |
T |
C |
1: 24,750,683 (GRCm39) |
|
probably null |
Het |
Mga |
T |
C |
2: 119,772,135 (GRCm39) |
V1665A |
possibly damaging |
Het |
Ms4a3 |
G |
T |
19: 11,610,199 (GRCm39) |
A121E |
probably damaging |
Het |
Nfix |
T |
C |
8: 85,440,415 (GRCm39) |
*392W |
probably null |
Het |
Noxred1 |
C |
T |
12: 87,268,190 (GRCm39) |
V314M |
probably damaging |
Het |
Or2t47 |
A |
T |
11: 58,442,560 (GRCm39) |
C168* |
probably null |
Het |
Or51aa5 |
T |
A |
7: 103,167,472 (GRCm39) |
T40S |
probably benign |
Het |
Phospho1 |
A |
G |
11: 95,719,548 (GRCm39) |
|
probably benign |
Het |
Prr5 |
G |
A |
15: 84,650,550 (GRCm39) |
A237T |
probably benign |
Het |
Rev3l |
C |
T |
10: 39,697,153 (GRCm39) |
T550M |
probably damaging |
Het |
Sbf2 |
A |
G |
7: 109,965,032 (GRCm39) |
F955L |
probably benign |
Het |
Slc38a9 |
C |
T |
13: 112,831,787 (GRCm39) |
T179M |
probably damaging |
Het |
Trpv5 |
T |
G |
6: 41,652,912 (GRCm39) |
D87A |
probably benign |
Het |
Tubgcp5 |
A |
G |
7: 55,455,836 (GRCm39) |
Q288R |
possibly damaging |
Het |
Uqcc1 |
A |
G |
2: 155,700,058 (GRCm39) |
Y172H |
probably damaging |
Het |
Vmn2r23 |
T |
C |
6: 123,718,845 (GRCm39) |
F733L |
possibly damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,264,827 (GRCm39) |
Y53C |
probably damaging |
Het |
Vwa5a |
T |
A |
9: 38,638,266 (GRCm39) |
M263K |
probably damaging |
Het |
Zfp503 |
C |
A |
14: 22,036,488 (GRCm39) |
A143S |
probably benign |
Het |
Zfp958 |
T |
C |
8: 4,678,917 (GRCm39) |
L314P |
probably damaging |
Het |
|
Other mutations in Clec1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01785:Clec1b
|
APN |
6 |
129,380,525 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02288:Clec1b
|
APN |
6 |
129,374,586 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02411:Clec1b
|
APN |
6 |
129,378,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R0471:Clec1b
|
UTSW |
6 |
129,378,570 (GRCm39) |
splice site |
probably benign |
|
R4028:Clec1b
|
UTSW |
6 |
129,378,774 (GRCm39) |
missense |
probably benign |
|
R4674:Clec1b
|
UTSW |
6 |
129,377,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R6211:Clec1b
|
UTSW |
6 |
129,378,440 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8777:Clec1b
|
UTSW |
6 |
129,380,537 (GRCm39) |
missense |
probably benign |
0.05 |
R8777-TAIL:Clec1b
|
UTSW |
6 |
129,380,537 (GRCm39) |
missense |
probably benign |
0.05 |
R8887:Clec1b
|
UTSW |
6 |
129,378,703 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8915:Clec1b
|
UTSW |
6 |
129,382,212 (GRCm39) |
makesense |
probably null |
|
R8979:Clec1b
|
UTSW |
6 |
129,380,537 (GRCm39) |
missense |
probably benign |
|
R9546:Clec1b
|
UTSW |
6 |
129,382,167 (GRCm39) |
missense |
probably benign |
0.01 |
R9567:Clec1b
|
UTSW |
6 |
129,382,201 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9717:Clec1b
|
UTSW |
6 |
129,374,603 (GRCm39) |
missense |
probably benign |
0.20 |
R9740:Clec1b
|
UTSW |
6 |
129,380,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-05-07 |