Incidental Mutation 'G5030:Clec16a'
| ID |
486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clec16a
|
| Ensembl Gene |
ENSMUSG00000068663 |
| Gene Name |
C-type lectin domain family 16, member A |
| Synonyms |
curt, 4932416N17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
G5030 (G3)
of strain
560
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
10363203-10562742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10389425 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 187
(R187Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038145]
[ENSMUST00000066345]
[ENSMUST00000115824]
[ENSMUST00000115827]
[ENSMUST00000115828]
[ENSMUST00000155633]
|
| AlphaFold |
Q80U30 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038145
AA Change: R187Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663
AA Change: R187Q
| 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 damaging
Transcript: ENSMUST00000066345
AA Change: R187Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663
AA Change: R187Q
| 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 damaging
Transcript: ENSMUST00000115824
AA Change: R187Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663
AA Change: R187Q
| 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 damaging
Transcript: ENSMUST00000115827
AA Change: R187Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663
AA Change: R187Q
| 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 damaging
Transcript: ENSMUST00000115828
AA Change: R187Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111494
Gene: ENSMUSG00000068663
AA Change: R187Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FPL
|
51 |
199 |
2.1e-61 |
PFAM |
|
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155633
AA Change: R187Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663
AA Change: R187Q
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
35.6% |
| Validation Efficiency |
87% (206/237) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,961,165 (GRCm39) |
I585F |
probably damaging |
Het |
| Adam18 |
C |
G |
8: 25,141,872 (GRCm39) |
L232F |
probably benign |
Homo |
| Atp13a4 |
A |
G |
16: 29,274,306 (GRCm39) |
I385T |
probably damaging |
Homo |
| Ccdc17 |
T |
A |
4: 116,455,699 (GRCm39) |
S277T |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,629 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
T |
C |
8: 94,000,847 (GRCm39) |
D99G |
probably benign |
Het |
| Cryl1 |
C |
T |
14: 57,579,595 (GRCm39) |
|
probably benign |
Het |
| Cryzl2 |
C |
T |
1: 157,292,580 (GRCm39) |
Q48* |
probably null |
Het |
| Dtx4 |
A |
G |
19: 12,446,943 (GRCm39) |
L583P |
probably benign |
Het |
| Ephx4 |
A |
T |
5: 107,577,693 (GRCm39) |
D339V |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,601 (GRCm39) |
V300E |
possibly damaging |
Het |
| F3 |
T |
A |
3: 121,518,648 (GRCm39) |
N37K |
probably damaging |
Homo |
| Fpr1 |
A |
T |
17: 18,097,068 (GRCm39) |
L307H |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,618 (GRCm39) |
N61K |
possibly damaging |
Het |
| Gm5548 |
T |
C |
3: 112,961,512 (GRCm39) |
|
noncoding transcript |
Homo |
| Il1r1 |
A |
G |
1: 40,352,323 (GRCm39) |
K498E |
possibly damaging |
Homo |
| Myh11 |
T |
C |
16: 14,068,443 (GRCm39) |
I192M |
probably damaging |
Homo |
| Nckap5 |
T |
C |
1: 125,953,591 (GRCm39) |
K923R |
probably damaging |
Het |
| Nmbr |
A |
T |
10: 14,642,747 (GRCm39) |
Y102F |
possibly damaging |
Het |
| Or6c75 |
A |
G |
10: 129,337,406 (GRCm39) |
T218A |
probably benign |
Homo |
| Pde1a |
C |
T |
2: 79,718,180 (GRCm39) |
|
probably benign |
Het |
| Pex6 |
T |
C |
17: 47,026,382 (GRCm39) |
|
probably benign |
Het |
| Rtn2 |
T |
C |
7: 19,027,099 (GRCm39) |
S305P |
probably damaging |
Homo |
| Saal1 |
G |
A |
7: 46,342,207 (GRCm39) |
T412I |
probably damaging |
Homo |
| Slc46a2 |
A |
T |
4: 59,913,867 (GRCm39) |
I352N |
probably damaging |
Het |
| Trim37 |
A |
T |
11: 87,033,967 (GRCm39) |
H99L |
probably damaging |
Het |
| Tubgcp4 |
C |
T |
2: 121,014,815 (GRCm39) |
R242C |
probably damaging |
Het |
| Twf2 |
C |
A |
9: 106,084,141 (GRCm39) |
L27I |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,941 (GRCm39) |
H307Q |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,678,091 (GRCm39) |
V3047G |
possibly damaging |
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 |
|
IGL03055:Clec16a
|
UTSW |
16 |
10,559,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P0014:Clec16a
|
UTSW |
16 |
10,378,020 (GRCm39) |
splice site |
probably benign |
|
|
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 |
 DNA sequencing using the SOLiD technique identified a G to A transition at position 736 of the Clec16a transcript in exon 5 of 24 total exons. Multiple transcripts of the Clec16a gene are displayed on Ensembl and Vega. The mutated nucleotide causes an arginine to glutamine substitution at amino acid 187 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| 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).
The R187Q change is predicted to be probably damaging by the PolyPhen program (see report). |
| Posted On |
2010-10-26 |
Incidental Mutation