Incidental Mutation 'R3817:Clec4a4'
| ID |
274739 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec4a4
|
| Ensembl Gene |
ENSMUSG00000059639 |
| Gene Name |
C-type lectin domain family 4, member a4 |
| Synonyms |
Dcir2 |
| MMRRC Submission |
040771-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3817 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
122967326-123001064 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 122967366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 14
(N14T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079379]
|
| AlphaFold |
Q5YIR8 |
| PDB Structure |
Crystal structure of C-type lectin domain of murine dendritic cell inhibitory receptor 2 (apo form) [X-RAY DIFFRACTION]
Crystal structure of C-type lectin domain of murine dendritic cell inhibitory receptor 2 in complex with N-glycan [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079379
AA Change: N14T
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078351
Gene: ENSMUSG00000059639
AA Change: N14T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
45 |
67 |
N/A |
INTRINSIC |
|
CLECT
|
107 |
230 |
1.72e-32 |
SMART |
|
| Meta Mutation Damage Score |
0.2238 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Appbp2 |
G |
T |
11: 85,088,934 (GRCm39) |
P369T |
probably damaging |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| B3galt2 |
G |
T |
1: 143,522,811 (GRCm39) |
G316C |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,710,893 (GRCm39) |
|
probably benign |
Het |
| Crb1 |
T |
A |
1: 139,175,835 (GRCm39) |
Q716L |
probably benign |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Cyb561a3 |
T |
C |
19: 10,559,728 (GRCm39) |
S18P |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,127 (GRCm39) |
F234L |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
| Exph5 |
C |
T |
9: 53,286,794 (GRCm39) |
Q1292* |
probably null |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Lig3 |
G |
A |
11: 82,686,941 (GRCm39) |
V695M |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,766,670 (GRCm39) |
E2735G |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,044 (GRCm39) |
E152G |
probably benign |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,310 (GRCm39) |
T765A |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Or8g52 |
A |
G |
9: 39,631,404 (GRCm39) |
N294D |
possibly damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
| Ppp2r5c |
T |
C |
12: 110,510,621 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,037,122 (GRCm39) |
V422A |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Tns3 |
G |
C |
11: 8,384,619 (GRCm39) |
R1400G |
probably damaging |
Het |
| Vmn2r19 |
A |
T |
6: 123,286,601 (GRCm39) |
Y78F |
probably damaging |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Zfp672 |
G |
T |
11: 58,207,462 (GRCm39) |
H286Q |
possibly damaging |
Het |
|
| Other mutations in Clec4a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01561:Clec4a4
|
APN |
6 |
123,000,975 (GRCm39) |
nonsense |
probably null |
|
|
IGL01659:Clec4a4
|
APN |
6 |
123,000,894 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02455:Clec4a4
|
APN |
6 |
122,990,739 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02726:Clec4a4
|
APN |
6 |
122,967,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03241:Clec4a4
|
APN |
6 |
122,967,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0751:Clec4a4
|
UTSW |
6 |
122,989,671 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1184:Clec4a4
|
UTSW |
6 |
122,989,671 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1455:Clec4a4
|
UTSW |
6 |
122,989,758 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1474:Clec4a4
|
UTSW |
6 |
122,989,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1514:Clec4a4
|
UTSW |
6 |
122,967,401 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1779:Clec4a4
|
UTSW |
6 |
123,000,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2138:Clec4a4
|
UTSW |
6 |
123,000,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2182:Clec4a4
|
UTSW |
6 |
122,990,716 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2207:Clec4a4
|
UTSW |
6 |
122,990,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5474:Clec4a4
|
UTSW |
6 |
122,989,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5917:Clec4a4
|
UTSW |
6 |
122,981,017 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6164:Clec4a4
|
UTSW |
6 |
122,968,833 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6628:Clec4a4
|
UTSW |
6 |
122,989,763 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7212:Clec4a4
|
UTSW |
6 |
122,968,704 (GRCm39) |
splice site |
probably null |
|
|
R7399:Clec4a4
|
UTSW |
6 |
122,968,788 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7808:Clec4a4
|
UTSW |
6 |
122,967,339 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8370:Clec4a4
|
UTSW |
6 |
122,968,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Clec4a4
|
UTSW |
6 |
122,980,982 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8900:Clec4a4
|
UTSW |
6 |
123,000,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8904:Clec4a4
|
UTSW |
6 |
122,990,836 (GRCm39) |
splice site |
probably benign |
|
|
R9260:Clec4a4
|
UTSW |
6 |
123,000,895 (GRCm39) |
nonsense |
probably null |
|
|
X0013:Clec4a4
|
UTSW |
6 |
123,000,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTAGTGAGACATGCCTCTTC -3'
(R):5'- TGTCCAGCTCTTCAAGTTGATC -3'
Sequencing Primer
(F):5'- AGTGAGACATGCCTCTTCTTTCATAC -3'
(R):5'- TAAGACTCCAGTAAAATACCAGATGG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation