Mutagenetix > Incidental Mutations

Incidental Mutation 'R6894:Clec16a'

538257

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

Accession Numbers

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

Is this an essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R6894 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10545339-10744878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10644854 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 260 (I260F)

Ref Sequence

ENSEMBL: ENSMUSP00000111489 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038145
AA Change: I695F

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

SMART Domains

Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663
AA Change: I695F

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: I681F

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663
AA Change: I681F

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: ENSMUST00000115823
AA Change: I260F

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

SMART Domains

Protein: ENSMUSP00000111489
Gene: ENSMUSG00000068663
AA Change: I260F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115824
AA Change: I681F

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663
AA Change: I681F

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: I695F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663
AA Change: I695F

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

possibly damaging
Transcript: ENSMUST00000155633
AA Change: I679F

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663
AA Change: I679F

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: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,930,662	A199T	probably damaging	Het
2410089E03Rik	T	C	15: 8,187,368	L690P	probably damaging	Het
4921509C19Rik	C	A	2: 151,473,307	L150F	probably damaging	Het
4930449I24Rik	G	A	5: 146,504,732	E230K	possibly damaging	Het
4930449I24Rik	A	T	5: 146,504,733	E230V	probably benign	Het
9430038I01Rik	A	G	7: 137,387,388	C93R	possibly damaging	Het
Apobec1	T	C	6: 122,591,242		probably benign	Het
Arl4c	T	A	1: 88,701,375	D97V	probably damaging	Het
Ash1l	A	G	3: 88,982,991	T726A	probably benign	Het
Asz1	A	C	6: 18,055,521	F359V	probably damaging	Het
Atr	T	A	9: 95,927,197	L1970H	probably damaging	Het
Baz2a	G	T	10: 128,123,581	A1322S	possibly damaging	Het
Cd209e	T	A	8: 3,853,569	I37F	possibly damaging	Het
Cd209f	T	C	8: 4,105,477	K37R	probably benign	Het
Cd5	G	C	19: 10,738,839	S3C	possibly damaging	Het
Cltc	A	T	11: 86,712,602	Y799*	probably null	Het
Csde1	G	A	3: 103,044,656	V258I	possibly damaging	Het
Dennd5a	G	T	7: 109,901,118	H909Q	probably damaging	Het
Dnah12	A	G	14: 26,735,749	D890G	probably damaging	Het
Dnah2	A	T	11: 69,484,260	M1379K	probably benign	Het
Dpp10	A	T	1: 123,336,864	I743N	probably damaging	Het
Dpp9	T	A	17: 56,188,321	T815S	probably damaging	Het
Ears2	T	C	7: 122,048,224	N279S	probably damaging	Het
Ect2l	A	G	10: 18,169,380		probably null	Het
Eomes	C	G	9: 118,481,285	P288A	probably damaging	Het
Fam205a1	G	A	4: 42,850,291	P622S	probably benign	Het
Fat3	T	C	9: 15,997,776	D2310G	probably damaging	Het
Fignl2	T	C	15: 101,053,973	T143A	probably benign	Het
Gdf9	A	G	11: 53,436,819	K201E	possibly damaging	Het
Gfra3	C	T	18: 34,695,657	R228Q	probably damaging	Het
Grin1	A	T	2: 25,295,817	V876E	probably damaging	Het
Igkv12-41	A	C	6: 69,858,651	V39G	probably damaging	Het
Kat7	A	T	11: 95,284,084	M367K	possibly damaging	Het
Ly6d	T	C	15: 74,762,805	K33E	possibly damaging	Het
Lztfl1	T	C	9: 123,700,933	N273S	possibly damaging	Het
Macf1	T	A	4: 123,483,687	I1485F	possibly damaging	Het
March10	G	T	11: 105,396,961	L172I	possibly damaging	Het
Mdn1	T	G	4: 32,748,614	S4220A	possibly damaging	Het
Muc16	A	G	9: 18,495,576	V8460A	possibly damaging	Het
Myh14	A	G	7: 44,633,512	F769L	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Mylk4	A	G	13: 32,722,015	L395P	probably damaging	Het
Nat8f6	A	T	6: 85,808,522	L215*	probably null	Het
Nell2	T	C	15: 95,346,887	D443G	probably damaging	Het
Nkx6-3	A	G	8: 23,157,616	K197R	probably benign	Het
Nt5c3	A	T	6: 56,882,973	L293*	probably null	Het
Ntrk1	A	T	3: 87,782,802	V429D	probably damaging	Het
Obscn	A	G	11: 59,132,682	V623A	probably benign	Het
Olfr1054	A	T	2: 86,332,951	I135N	probably damaging	Het
Olfr1231	A	G	2: 89,303,493	L33S	probably damaging	Het
Olfr1394	T	C	11: 49,160,359	F115S	probably benign	Het
Olfr203	A	G	16: 59,303,779	T209A	probably damaging	Het
Olfr467	C	T	7: 107,815,064	T160I	probably benign	Het
Olfr821	T	C	10: 130,034,309	S228P	probably damaging	Het
Pate3	T	A	9: 35,646,673	D33V	probably damaging	Het
Pcnx	T	A	12: 81,987,973	I1843N	probably damaging	Het
Pla2g4f	A	T	2: 120,303,596	I503N	probably benign	Het
Prkg1	C	A	19: 30,624,774	E361*	probably null	Het
Proca1	A	G	11: 78,194,787		probably benign	Het
Prss38	G	T	11: 59,373,024	H287Q	probably benign	Het
Ptpdc1	T	C	13: 48,590,638	E169G	probably benign	Het
Ptpn21	T	C	12: 98,715,181	S65G	probably damaging	Het
Rfx6	A	T	10: 51,716,039	H177L	probably damaging	Het
Slc20a2	G	A	8: 22,560,593	G276D	possibly damaging	Het
Spag6l	A	T	16: 16,783,938	L159I	probably damaging	Het
St3gal1	A	G	15: 67,111,346	V187A	possibly damaging	Het
Stk33	T	A	7: 109,336,062	E174D	possibly damaging	Het
Stxbp5	A	T	10: 9,784,361	V730E	probably benign	Het
Tmprss15	A	T	16: 79,075,814	L168*	probably null	Het
Tnrc18	A	T	5: 142,760,049	M1323K	unknown	Het
Tpr	T	C	1: 150,436,847	V1932A	probably benign	Het
Trak2	A	G	1: 58,911,733	S432P	probably damaging	Het
Ttn	A	T	2: 76,908,190	F4002I	probably benign	Het
Txndc11	G	A	16: 11,088,145	T507I	probably damaging	Het
Usp12	G	A	5: 146,754,539	T135I	possibly damaging	Het
Vit	T	A	17: 78,626,758	Y596*	probably null	Het
Vmn1r32	A	T	6: 66,553,361	Y144N	possibly damaging	Het
Vmn2r80	G	T	10: 79,169,604	L358F	probably benign	Het
Zfp382	T	G	7: 30,125,836	S38A	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTCACCATGCAATGCCTTC -3'
(R):5'- AGGCCAGTGCTGTTCTCATG -3'

Sequencing Primer
(F):5'- ATGCAATGCCTTCATGCAGG -3'
(R):5'- GTTCTCATGTCAGTGCGGCC -3'

Posted On

2018-11-06