Incidental Mutation 'P0014:Clec16a'
| ID |
7577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec16a
|
| Ensembl Gene |
ENSMUSG00000068663 |
| Gene Name |
C-type lectin domain family 16, member A |
| Synonyms |
curt, 4932416N17Rik |
| MMRRC Submission |
038267-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
P0014 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
10363203-10562742 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 10378020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038145]
[ENSMUST00000066345]
[ENSMUST00000115824]
[ENSMUST00000115827]
[ENSMUST00000115828]
[ENSMUST00000150894]
[ENSMUST00000155633]
|
| AlphaFold |
Q80U30 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038145
|
| SMART Domains |
Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPL
|
51 |
199 |
9.2e-61 |
PFAM |
|
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066345
|
| SMART Domains |
Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPL
|
51 |
199 |
1.1e-60 |
PFAM |
|
coiled coil region
|
398 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
924 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
955 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115824
|
| SMART Domains |
Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPL
|
51 |
198 |
5.9e-66 |
PFAM |
|
coiled coil region
|
398 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
924 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
955 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115827
|
| SMART Domains |
Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPL
|
51 |
199 |
8.7e-61 |
PFAM |
|
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115828
|
| SMART Domains |
Protein: ENSMUSP00000111494
Gene: ENSMUSG00000068663
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPL
|
51 |
199 |
2.1e-61 |
PFAM |
|
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150894
|
| SMART Domains |
Protein: ENSMUSP00000114577
Gene: ENSMUSG00000068663
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155633
|
| SMART Domains |
Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPL
|
51 |
199 |
1.1e-60 |
PFAM |
|
coiled coil region
|
396 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
875 |
922 |
N/A |
INTRINSIC |
|
low complexity region
|
941 |
953 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 85.4%
- 3x: 80.7%
- 10x: 66.7%
- 20x: 50.4%
|
| Validation Efficiency |
95% (100/105) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for a spontaneous mutation have a curved tail, small body size, squinting eyes, crooked digits that curve outward, and premature death. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(13) : Gene trapped(13)
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 9,000,083 (GRCm39) |
Y1017C |
probably benign |
Het |
| Acly |
T |
C |
11: 100,375,430 (GRCm39) |
I787V |
probably benign |
Het |
| Aldob |
T |
C |
4: 49,538,153 (GRCm39) |
Q325R |
probably benign |
Het |
| Armh4 |
C |
T |
14: 49,989,116 (GRCm39) |
E618K |
probably damaging |
Het |
| Capns2 |
A |
G |
8: 93,628,842 (GRCm39) |
T244A |
probably damaging |
Het |
| Creb3 |
A |
G |
4: 43,563,265 (GRCm39) |
T121A |
possibly damaging |
Het |
| Ddah1 |
A |
G |
3: 145,558,913 (GRCm39) |
D160G |
probably benign |
Het |
| Dhx57 |
A |
T |
17: 80,582,620 (GRCm39) |
H328Q |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,309,048 (GRCm39) |
L1901R |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,403,619 (GRCm39) |
L3448Q |
probably damaging |
Het |
| Gcdh |
A |
G |
8: 85,615,154 (GRCm39) |
|
probably null |
Het |
| Lrrc8c |
T |
C |
5: 105,755,110 (GRCm39) |
V295A |
probably benign |
Het |
| Nek1 |
A |
T |
8: 61,524,781 (GRCm39) |
|
probably benign |
Het |
| Pkp2 |
C |
T |
16: 16,058,386 (GRCm39) |
P356L |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,082,640 (GRCm39) |
T752A |
probably damaging |
Het |
| Slc38a2 |
C |
A |
15: 96,588,042 (GRCm39) |
W494L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,628,814 (GRCm39) |
D12734G |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,281,950 (GRCm39) |
S742P |
probably damaging |
Het |
| Vwa3b |
C |
T |
1: 37,212,995 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Clec16a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Clec16a
|
APN |
16 |
10,413,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00503:Clec16a
|
APN |
16 |
10,512,513 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01622:Clec16a
|
APN |
16 |
10,395,774 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01623:Clec16a
|
APN |
16 |
10,395,774 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02008:Clec16a
|
APN |
16 |
10,398,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02082:Clec16a
|
APN |
16 |
10,432,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02468:Clec16a
|
APN |
16 |
10,559,742 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02499:Clec16a
|
APN |
16 |
10,512,540 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02671:Clec16a
|
APN |
16 |
10,445,245 (GRCm39) |
missense |
probably benign |
0.19 |
|
G5030:Clec16a
|
UTSW |
16 |
10,389,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03055:Clec16a
|
UTSW |
16 |
10,559,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0183:Clec16a
|
UTSW |
16 |
10,377,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Clec16a
|
UTSW |
16 |
10,462,692 (GRCm39) |
nonsense |
probably null |
|
|
R0512:Clec16a
|
UTSW |
16 |
10,432,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Clec16a
|
UTSW |
16 |
10,456,649 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0944:Clec16a
|
UTSW |
16 |
10,506,510 (GRCm39) |
splice site |
probably benign |
|
|
R1456:Clec16a
|
UTSW |
16 |
10,509,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Clec16a
|
UTSW |
16 |
10,453,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1580:Clec16a
|
UTSW |
16 |
10,413,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Clec16a
|
UTSW |
16 |
10,506,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2075:Clec16a
|
UTSW |
16 |
10,559,480 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2269:Clec16a
|
UTSW |
16 |
10,462,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Clec16a
|
UTSW |
16 |
10,377,551 (GRCm39) |
intron |
probably benign |
|
|
R3011:Clec16a
|
UTSW |
16 |
10,428,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4331:Clec16a
|
UTSW |
16 |
10,389,533 (GRCm39) |
missense |
probably benign |
|
|
R4616:Clec16a
|
UTSW |
16 |
10,462,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4775:Clec16a
|
UTSW |
16 |
10,456,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Clec16a
|
UTSW |
16 |
10,386,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Clec16a
|
UTSW |
16 |
10,394,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5170:Clec16a
|
UTSW |
16 |
10,559,655 (GRCm39) |
missense |
probably benign |
|
|
R5329:Clec16a
|
UTSW |
16 |
10,549,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5331:Clec16a
|
UTSW |
16 |
10,549,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5332:Clec16a
|
UTSW |
16 |
10,549,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5417:Clec16a
|
UTSW |
16 |
10,549,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5419:Clec16a
|
UTSW |
16 |
10,549,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5420:Clec16a
|
UTSW |
16 |
10,549,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5457:Clec16a
|
UTSW |
16 |
10,363,396 (GRCm39) |
splice site |
probably null |
|
|
R5623:Clec16a
|
UTSW |
16 |
10,428,985 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6057:Clec16a
|
UTSW |
16 |
10,447,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6184:Clec16a
|
UTSW |
16 |
10,390,792 (GRCm39) |
splice site |
probably null |
|
|
R6235:Clec16a
|
UTSW |
16 |
10,512,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Clec16a
|
UTSW |
16 |
10,512,712 (GRCm39) |
intron |
probably benign |
|
|
R6292:Clec16a
|
UTSW |
16 |
10,378,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6318:Clec16a
|
UTSW |
16 |
10,448,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6894:Clec16a
|
UTSW |
16 |
10,462,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Clec16a
|
UTSW |
16 |
10,398,827 (GRCm39) |
missense |
probably null |
0.21 |
|
R7432:Clec16a
|
UTSW |
16 |
10,506,419 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7453:Clec16a
|
UTSW |
16 |
10,462,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Clec16a
|
UTSW |
16 |
10,456,708 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8207:Clec16a
|
UTSW |
16 |
10,512,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8207:Clec16a
|
UTSW |
16 |
10,445,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8423:Clec16a
|
UTSW |
16 |
10,394,527 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8447:Clec16a
|
UTSW |
16 |
10,559,487 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8700:Clec16a
|
UTSW |
16 |
10,506,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Clec16a
|
UTSW |
16 |
10,462,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9143:Clec16a
|
UTSW |
16 |
10,428,964 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9676:Clec16a
|
UTSW |
16 |
10,559,823 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Nature of Mutation |
Multiple transcripts of the Clec16a gene are displayed on Ensembl and Vega.
|
| Protein Function and Prediction |
The Clec16a gene encodes a 1036 amino acid protein that belongs to the C-type lectin domain family. Several isoforms are produced by alternative splicing (Uniprot Q80U30).
|
| Expression/Localization |
CLEC16A is ubiquitously expressed, with highest levels in the kidney, testis, and ovary (1). Other studies state that CLEC16A is almost uniquely expressed on immune cells (2).
|
| Background |
Mutations in CLEC16A have been linked to susceptibility to Immunoglobulin A deficiency [(3); OMIM:#137100], insulin-dependent diabetes mellitus 1 [(4;5); OMIM: #222100], and multiple sclerosis [(2); OMIM:# 126200].
|
| References |
1. Nagase, T., Ishikawa, K., Nakajima, D., Ohira, M., Seki, N., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., and Ohara, O. (1997) Prediction of the Coding Sequences of Unidentified Human Genes. VII. the Complete Sequences of 100 New cDNA Clones from Brain which can Code for Large Proteins in Vitro. DNA Res. 4, 141-150.
2. Mero, I. L., Ban, M., Lorentzen, A. R., Smestad, C., Celius, E. G., Saether, H., Saeedi, H., Viken, M. K., Skinningsrud, B., Undlien, D. E., Aarseth, J., Myhr, K. M., Granum, S., Spurkland, A., Sawcer, S., Compston, A., Lie, B. A., and Harbo, H. F. (2011) Exploring the CLEC16A Gene Reveals a MS-Associated Variant with Correlation to the Relative Expression of CLEC16A Isoforms in Thymus. Genes Immun. 12, 191-198.
3. Wang, N., Shen, N., Vyse, T. J., Anand, V., Gunnarson, I., Sturfelt, G., Rantapaa-Dahlqvist, S., Elvin, K., Truedsson, L., Andersson, B. A., Dahle, C., Ortqvist, E., Gregersen, P. K., Behrens, T. W., and Hammarstrom, L. (2011) Selective IgA Deficiency in Autoimmune Diseases. Mol Med. 17, 1383-1396.
5. Hakonarson, H., Grant, S. F., Bradfield, J. P., Marchand, L., Kim, C. E., Glessner, J. T., Grabs, R., Casalunovo, T., Taback, S. P., Frackelton, E. C., Lawson, M. L., Robinson, L. J., Skraban, R., Lu, Y., Chiavacci, R. M., Stanley, C. A., Kirsch, S. E., Rappaport, E. F., Orange, J. S., Monos, D. S., Devoto, M., Qu, H. Q., and Polychronakos, C. (2007) A Genome-Wide Association Study Identifies KIAA0350 as a Type 1 Diabetes Gene. Nature. 448, 591-594. |
| Posted On |
2012-10-05 |
| Science Writer |
Anne Murray |
Incidental Mutation