Incidental Mutation 'IGL01753:Clec4b2'
| ID |
153156 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clec4b2
|
| Ensembl Gene |
ENSMUSG00000067767 |
| Gene Name |
C-type lectin domain family 4, member b2 |
| Synonyms |
mDCAR1, F830043G12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL01753
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
123149852-123181630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 123179169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 157
(Y157F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088455]
|
| AlphaFold |
Q67DU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088455
AA Change: Y157F
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000085802
Gene: ENSMUSG00000067767
AA Change: Y157F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
CLECT
|
79 |
202 |
1.87e-33 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,599,112 (GRCm39) |
F163L |
probably benign |
Het |
| Ap2b1 |
A |
G |
11: 83,212,799 (GRCm39) |
T60A |
probably damaging |
Het |
| Casp3 |
A |
G |
8: 47,082,776 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,919,438 (GRCm39) |
Y118C |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,087,015 (GRCm39) |
|
probably benign |
Het |
| Crppa |
C |
T |
12: 36,523,176 (GRCm39) |
L202F |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,932,173 (GRCm39) |
F480I |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,038,656 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,530,906 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,390,677 (GRCm39) |
Y830H |
probably damaging |
Het |
| Hook2 |
T |
C |
8: 85,719,865 (GRCm39) |
|
probably null |
Het |
| Ighv2-9-1 |
T |
C |
12: 113,733,548 (GRCm39) |
D91G |
probably damaging |
Het |
| Igkv12-41 |
T |
C |
6: 69,835,510 (GRCm39) |
R81G |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,067,794 (GRCm39) |
S1766T |
probably damaging |
Het |
| Mdn1 |
G |
A |
4: 32,708,483 (GRCm39) |
V1670I |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,350,274 (GRCm39) |
F124L |
probably damaging |
Het |
| Nek2 |
C |
T |
1: 191,557,598 (GRCm39) |
Q187* |
probably null |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pif1 |
G |
A |
9: 65,500,590 (GRCm39) |
G505D |
probably damaging |
Het |
| Plxna4 |
T |
A |
6: 32,287,413 (GRCm39) |
I495F |
probably benign |
Het |
| Ppp1r21 |
T |
C |
17: 88,869,530 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,444,802 (GRCm39) |
I282V |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,479,146 (GRCm39) |
I669N |
possibly damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,180,031 (GRCm39) |
|
probably benign |
Het |
| Top2a |
T |
A |
11: 98,898,100 (GRCm39) |
T689S |
probably damaging |
Het |
| Trerf1 |
T |
A |
17: 47,626,362 (GRCm39) |
|
noncoding transcript |
Het |
| Uso1 |
T |
C |
5: 92,300,777 (GRCm39) |
|
probably null |
Het |
| Vmn2r-ps158 |
T |
A |
7: 42,674,139 (GRCm39) |
V399E |
probably damaging |
Het |
| Zcchc7 |
A |
G |
4: 44,929,217 (GRCm39) |
I390V |
probably benign |
Het |
| Zfp90 |
C |
T |
8: 107,150,782 (GRCm39) |
T165I |
probably benign |
Het |
|
| Other mutations in Clec4b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00956:Clec4b2
|
APN |
6 |
123,179,110 (GRCm39) |
nonsense |
probably null |
|
|
IGL02168:Clec4b2
|
APN |
6 |
123,181,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02388:Clec4b2
|
APN |
6 |
123,179,187 (GRCm39) |
splice site |
probably null |
|
|
IGL03194:Clec4b2
|
APN |
6 |
123,177,946 (GRCm39) |
missense |
probably benign |
0.07 |
|
P0041:Clec4b2
|
UTSW |
6 |
123,158,253 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0013:Clec4b2
|
UTSW |
6 |
123,179,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Clec4b2
|
UTSW |
6 |
123,181,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0401:Clec4b2
|
UTSW |
6 |
123,158,259 (GRCm39) |
nonsense |
probably null |
|
|
R1072:Clec4b2
|
UTSW |
6 |
123,181,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2520:Clec4b2
|
UTSW |
6 |
123,177,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Clec4b2
|
UTSW |
6 |
123,150,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4897:Clec4b2
|
UTSW |
6 |
123,177,999 (GRCm39) |
nonsense |
probably null |
|
|
R4898:Clec4b2
|
UTSW |
6 |
123,181,163 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5022:Clec4b2
|
UTSW |
6 |
123,177,915 (GRCm39) |
missense |
probably null |
1.00 |
|
R5023:Clec4b2
|
UTSW |
6 |
123,177,915 (GRCm39) |
missense |
probably null |
1.00 |
|
R5057:Clec4b2
|
UTSW |
6 |
123,177,915 (GRCm39) |
missense |
probably null |
1.00 |
|
R5404:Clec4b2
|
UTSW |
6 |
123,158,308 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5508:Clec4b2
|
UTSW |
6 |
123,150,001 (GRCm39) |
start gained |
probably benign |
|
|
R6082:Clec4b2
|
UTSW |
6 |
123,181,100 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6333:Clec4b2
|
UTSW |
6 |
123,177,637 (GRCm39) |
splice site |
probably null |
|
|
R6902:Clec4b2
|
UTSW |
6 |
123,177,987 (GRCm39) |
nonsense |
probably null |
|
|
R6946:Clec4b2
|
UTSW |
6 |
123,177,987 (GRCm39) |
nonsense |
probably null |
|
|
R7144:Clec4b2
|
UTSW |
6 |
123,158,343 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7709:Clec4b2
|
UTSW |
6 |
123,149,974 (GRCm39) |
start gained |
probably benign |
|
|
R7973:Clec4b2
|
UTSW |
6 |
123,181,148 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8810:Clec4b2
|
UTSW |
6 |
123,158,269 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9278:Clec4b2
|
UTSW |
6 |
123,181,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-02-04 |
Incidental Mutation