Mutagenetix > Incidental Mutations

Incidental Mutation 'R5053:Clec16a'

394776

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

042643-MU

Accession Numbers

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

Is this an essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R5053 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10545339-10744878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10576597 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 273 (L273P)

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: L273P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663
AA Change: L273P

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: L275P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663
AA Change: L275P

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: L275P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663
AA Change: L275P

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: L273P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663
AA Change: L273P

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: L273P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111494
Gene: ENSMUSG00000068663
AA Change: L273P

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: L273P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663
AA Change: L273P

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: 99.3%
3x: 98.3%
10x: 95.9%
20x: 90.6%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	A	T	15: 101,137,369	I259F	probably damaging	Het
Adgrf2	A	G	17: 42,710,443	S497P	probably damaging	Het
Adsl	T	C	15: 80,960,450	C180R	probably damaging	Het
Ahctf1	A	G	1: 179,786,784	I448T	possibly damaging	Het
Alg9	G	T	9: 50,788,172	G200W	probably damaging	Het
Amhr2	G	A	15: 102,447,258	V213I	probably damaging	Het
Ankrd44	A	T	1: 54,735,089	L200*	probably null	Het
As3mt	A	G	19: 46,709,054	Y87C	probably damaging	Het
Bcl11a	C	A	11: 24,164,068	F470L	probably benign	Het
Cacna2d2	A	T	9: 107,514,864	Y468F	probably damaging	Het
Cep250	A	G	2: 155,962,928	D71G	possibly damaging	Het
Clca4b	T	C	3: 144,911,121	T923A	probably benign	Het
Comtd1	T	C	14: 21,847,696	D123G	probably damaging	Het
Cpa5	A	T	6: 30,623,272	E144V	probably damaging	Het
Cyp2c37	G	A	19: 40,001,887	S343N	probably benign	Het
Dennd6a	C	A	14: 26,608,583	T103K	probably damaging	Het
Ect2l	A	G	10: 18,140,345	L733P	probably damaging	Het
Erg	T	A	16: 95,524,534	H11L	probably benign	Het
Ero1lb	T	C	13: 12,599,906	L253P	probably damaging	Het
Etfbkmt	T	A	6: 149,147,268	L135*	probably null	Het
Frmd4a	A	T	2: 4,603,921	T867S	probably damaging	Het
Gm815	C	T	19: 26,886,413	A18V	unknown	Het
Gna12	C	A	5: 140,760,727	R321L	probably benign	Het
Herc1	A	T	9: 66,470,326	K3458M	possibly damaging	Het
Irs1	A	G	1: 82,286,922	L1191P	probably benign	Het
Kcp	G	T	6: 29,496,958	Q551K	probably benign	Het
Klhl11	C	T	11: 100,472,200	V177M	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Llcfc1	A	G	6: 41,685,335	H91R	possibly damaging	Het
Lmnb2	A	T	10: 80,904,655	M223K	probably damaging	Het
Mbd6	C	T	10: 127,286,441	V173I	probably benign	Het
Mme	T	A	3: 63,364,849	V623E	probably damaging	Het
Ndc1	T	C	4: 107,374,218	S119P	probably damaging	Het
Nfs1	A	C	2: 156,126,398	C383G	probably damaging	Het
Nphp4	A	G	4: 152,544,462		probably null	Het
Oca2	C	A	7: 56,323,580	Q411K	probably benign	Het
Olfr1061	A	G	2: 86,413,338	F238S	probably damaging	Het
Olfr1211	C	A	2: 88,930,253	V21F	probably benign	Het
Olfr1377	G	A	11: 50,985,310	G203D	probably damaging	Het
Olfr479	A	G	7: 108,055,534	H184R	probably benign	Het
Olfr748	T	A	14: 50,710,511	Y60*	probably null	Het
Pcdh7	A	T	5: 57,721,601	T493S	probably damaging	Het
Phf20	T	C	2: 156,273,862	S368P	probably benign	Het
Pla2g2e	T	G	4: 138,880,375	V22G	possibly damaging	Het
Plxna1	A	T	6: 89,322,460	H1736Q	probably damaging	Het
Prlr	C	A	15: 10,325,385	Q215K	probably benign	Het
Prpf6	T	C	2: 181,649,453	V687A	probably benign	Het
Ptprq	T	A	10: 107,563,202	T1951S	probably damaging	Het
Sec31a	G	T	5: 100,393,214	Q345K	possibly damaging	Het
Serpina3k	T	C	12: 104,343,214		probably null	Het
Sertad3	T	A	7: 27,476,522	V127E	probably benign	Het
Sf3b1	A	T	1: 54,997,177	N912K	probably benign	Het
Shq1	A	G	6: 100,655,259	L202P	probably damaging	Het
Sp8	C	T	12: 118,849,604	T398M	probably damaging	Het
Tmem150c	A	T	5: 100,083,740	D125E	probably benign	Het
Trim3	G	T	7: 105,617,761	D470E	probably damaging	Het
Ubap1	T	A	4: 41,387,315	C88*	probably null	Het
Unc79	T	A	12: 103,104,748	D1124E	probably damaging	Het
Usf3	T	C	16: 44,217,187	S677P	probably benign	Het
Vmn1r76	T	C	7: 11,930,314		probably null	Het
Zfp819	C	T	7: 43,617,146	T275I	probably damaging	Het
Zranb2	T	A	3: 157,541,159	D161E	probably 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
R1580:Clec16a	UTSW	16	10595898	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
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'- GCTTACACTAGCTTGGAGGCTG -3'
(R):5'- CTTTGAAAGGCCTTTCCCTGG -3'

Sequencing Primer
(F):5'- AGGCTGGAGTGAATGTGTCTCC -3'
(R):5'- GGGTGTGAGGCTCTGCTACTTC -3'

Posted On

2016-06-15