Mutagenetix > Incidental Mutations

Incidental Mutation 'R1580:Clec16a'

171369

Institutional Source

Beutler Lab

Gene Symbol

Clec16a

Ensembl Gene

ENSMUSG00000068663

Gene Name

C-type lectin domain family 16, member A

Synonyms

4932416N17Rik, curt

MMRRC Submission

039617-MU

Accession Numbers

NCBI RefSeq: NM_177562.5, NM_001204229.1; MGI: 1921624

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R1580 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10545339-10744878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10595898 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 390 (R390G)

Ref Sequence

ENSEMBL: ENSMUSP00000111490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038145] [ENSMUST00000066345] [ENSMUST00000115823] [ENSMUST00000115824] [ENSMUST00000115827] [ENSMUST00000115828] [ENSMUST00000155633]

Predicted Effect

probably benign
Transcript: ENSMUST00000038145
AA Change: R388G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663
AA Change: R388G

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

possibly damaging
Transcript: ENSMUST00000066345
AA Change: R390G

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663
AA Change: R390G

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: ENSMUST00000115823

SMART Domains

Protein: ENSMUSP00000111489
Gene: ENSMUSG00000068663

Domain	Start	End	E-Value	Type
low complexity region	456	491	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000115824
AA Change: R390G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663
AA Change: R390G

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
AA Change: R388G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663
AA Change: R388G

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
AA Change: R388G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111494
Gene: ENSMUSG00000068663
AA Change: R388G

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 benign
Transcript: ENSMUST00000155633
AA Change: R388G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663
AA Change: R388G

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

0.0752

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.8%

Validation Efficiency

96% (43/45)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,265,965	V2044I	possibly damaging	Het
Adgrv1	A	G	13: 81,466,160		probably null	Het
Arhgef38	T	C	3: 133,133,704	Q526R	probably benign	Het
Atp2c2	A	G	8: 119,752,987	N752D	probably benign	Het
Atp6v0a1	T	C	11: 101,029,204	I221T	probably damaging	Het
Atp8b5	T	C	4: 43,355,673	V551A	possibly damaging	Het
B3galnt1	A	G	3: 69,575,707	S74P	possibly damaging	Het
Bcl2l13	A	G	6: 120,865,714	I123V	probably benign	Het
Brms1l	A	T	12: 55,868,222	K305N	probably damaging	Het
Ccdc82	C	T	9: 13,252,760	R226C	probably damaging	Het
Chst9	T	G	18: 15,453,065	K147T	probably benign	Het
Clec5a	G	T	6: 40,585,219	H4N	probably benign	Het
Csmd1	T	A	8: 15,925,299	Q2970L	probably damaging	Het
Cyp2a4	T	C	7: 26,307,651	I61T	possibly damaging	Het
Cyp3a16	T	A	5: 145,442,074	K379I	possibly damaging	Het
Cyp3a16	T	C	5: 145,442,075	K379E	probably damaging	Het
Dok2	A	G	14: 70,776,957	D195G	probably benign	Het
Emilin1	A	G	5: 30,917,420	E335G	probably damaging	Het
Fam205c	T	C	4: 42,874,020		probably null	Het
Gm7361	G	T	5: 26,257,770	L3F	probably damaging	Het
Haus1	T	C	18: 77,766,920	D50G	probably damaging	Het
Igf1r	T	C	7: 68,207,869	V1099A	probably benign	Het
Kif15	T	C	9: 122,959,956	V71A	probably benign	Het
Klk10	C	T	7: 43,782,862	A73V	probably damaging	Het
Lins1	C	A	7: 66,714,491	D711E	probably benign	Het
Mbtps1	C	T	8: 119,538,900	V303I	possibly damaging	Het
Mest	G	A	6: 30,745,823		probably benign	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr299	A	G	7: 86,465,450	E13G	probably benign	Het
Olfr800	G	T	10: 129,660,315	V170F	probably benign	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Sbspon	C	A	1: 15,892,468	C62F	probably damaging	Het
Spg7	T	A	8: 123,090,238		probably benign	Het
Trabd2b	T	C	4: 114,580,334	V236A	possibly damaging	Het
Vmn2r10	A	T	5: 109,006,251	N62K	possibly damaging	Het
Vmn2r45	T	G	7: 8,471,747	S761R	possibly damaging	Het
Zfp580	C	T	7: 5,053,285	R215C	probably damaging	Het
Zfpm2	A	G	15: 41,103,209	D898G	possibly damaging	Het

Other mutations in Clec16a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Clec16a	APN	16	10595896	missense	probably damaging	1.00
IGL00503:Clec16a	APN	16	10694649	missense	possibly damaging	0.53
IGL01622:Clec16a	APN	16	10577910	missense	possibly damaging	0.47
IGL01623:Clec16a	APN	16	10577910	missense	possibly damaging	0.47
IGL02008:Clec16a	APN	16	10580960	missense	probably damaging	1.00
IGL02082:Clec16a	APN	16	10614568	missense	probably damaging	1.00
IGL02468:Clec16a	APN	16	10741878	missense	probably benign	0.13
IGL02499:Clec16a	APN	16	10694676	missense	probably benign	0.25
IGL02671:Clec16a	APN	16	10627381	missense	probably benign	0.19
G5030:Clec16a	UTSW	16	10571561	missense	probably damaging	1.00
IGL03055:Clec16a	UTSW	16	10741781	missense	probably damaging	0.99
P0014:Clec16a	UTSW	16	10560156	splice site	probably benign
R0183:Clec16a	UTSW	16	10560022	missense	probably damaging	1.00
R0268:Clec16a	UTSW	16	10644828	nonsense	probably null
R0512:Clec16a	UTSW	16	10614580	missense	probably damaging	1.00
R0556:Clec16a	UTSW	16	10638785	critical splice acceptor site	probably null
R0944:Clec16a	UTSW	16	10688646	splice site	probably benign
R1456:Clec16a	UTSW	16	10691555	missense	probably damaging	1.00
R1497:Clec16a	UTSW	16	10635259	missense	probably damaging	1.00
R1933:Clec16a	UTSW	16	10688539	missense	probably damaging	0.99
R2075:Clec16a	UTSW	16	10741616	missense	probably benign	0.09
R2269:Clec16a	UTSW	16	10644786	missense	probably damaging	1.00
R2504:Clec16a	UTSW	16	10559687	intron	probably benign
R3011:Clec16a	UTSW	16	10611111	missense	probably benign	0.01
R4331:Clec16a	UTSW	16	10571669	missense	probably benign
R4616:Clec16a	UTSW	16	10644883	critical splice donor site	probably null
R4775:Clec16a	UTSW	16	10638914	missense	probably damaging	1.00
R4969:Clec16a	UTSW	16	10568511	missense	probably damaging	1.00
R5053:Clec16a	UTSW	16	10576597	missense	probably damaging	1.00
R5170:Clec16a	UTSW	16	10741791	missense	probably benign
R5329:Clec16a	UTSW	16	10731679	missense	probably damaging	0.99
R5331:Clec16a	UTSW	16	10731679	missense	probably damaging	0.99
R5332:Clec16a	UTSW	16	10731679	missense	probably damaging	0.99
R5417:Clec16a	UTSW	16	10731679	missense	probably damaging	0.99
R5419:Clec16a	UTSW	16	10731679	missense	probably damaging	0.99
R5420:Clec16a	UTSW	16	10731679	missense	probably damaging	0.99
R5457:Clec16a	UTSW	16	10545532	splice site	probably null
R5623:Clec16a	UTSW	16	10611121	missense	probably benign	0.07
R6057:Clec16a	UTSW	16	10630087	missense	probably damaging	1.00
R6184:Clec16a	UTSW	16	10572928	splice site	probably null
R6235:Clec16a	UTSW	16	10694635	missense	probably damaging	1.00
R6260:Clec16a	UTSW	16	10694848	intron	probably benign
R6292:Clec16a	UTSW	16	10560151	critical splice donor site	probably null
R6318:Clec16a	UTSW	16	10630788	missense	probably damaging	1.00
R6894:Clec16a	UTSW	16	10644854	missense	probably damaging	1.00
R7340:Clec16a	UTSW	16	10580963	missense	probably null	0.21
R7432:Clec16a	UTSW	16	10688555	missense	possibly damaging	0.62
R7453:Clec16a	UTSW	16	10644822	missense	probably damaging	1.00
R7536:Clec16a	UTSW	16	10638844	missense	possibly damaging	0.90
R8207:Clec16a	UTSW	16	10627448	missense	probably benign	0.00
R8207:Clec16a	UTSW	16	10694710	missense	probably damaging	1.00
R8423:Clec16a	UTSW	16	10576663	missense	probably benign	0.04
R8447:Clec16a	UTSW	16	10741623	missense	probably benign	0.09
R8700:Clec16a	UTSW	16	10688558	missense	probably damaging	1.00
R8855:Clec16a	UTSW	16	10644867	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAACTTGCTAAGGCAGGCCCTC -3'
(R):5'- CACAGGTGGGACTTGCACTGAATC -3'

Sequencing Primer
(F):5'- CCCTCTGGCAGCTCGTG -3'
(R):5'- CTGTCCAGAATGAGGTACACTG -3'

Posted On

2014-04-13