Mutagenetix > Incidental Mutations

Incidental Mutation 'R6318:Clec16a'

510315

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: 0.158) question?

Stock #

R6318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10545339-10744878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10630788 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 599 (R599H)

Ref Sequence

ENSEMBL: ENSMUSP00000111494 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000038145
AA Change: R599H

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

SMART Domains

Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663
AA Change: R599H

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: R585H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663
AA Change: R585H

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: R164H

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

SMART Domains

Protein: ENSMUSP00000111489
Gene: ENSMUSG00000068663
AA Change: R164H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115824
AA Change: R585H

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

SMART Domains

Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663
AA Change: R585H

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: R599H

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

SMART Domains

Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663
AA Change: R599H

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: R599H

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

SMART Domains

Protein: ENSMUSP00000111494
Gene: ENSMUSG00000068663
AA Change: R599H

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: ENSMUST00000122856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145866

Predicted Effect

probably damaging
Transcript: ENSMUST00000155633
AA Change: R583H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663
AA Change: R583H

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: 99.1%
20x: 97.3%

Validation Efficiency

99% (74/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,393,275	T13A	possibly damaging	Het
Abcg4	T	C	9: 44,275,348	T500A	probably benign	Het
Adcy4	T	A	14: 55,769,224	I1051F	probably damaging	Het
Adgrg6	A	T	10: 14,467,497	N235K	probably benign	Het
Aldh3a2	A	C	11: 61,262,419	Y160*	probably null	Het
Arhgef4	G	A	1: 34,723,477	A605T	unknown	Het
Armt1	T	C	10: 4,450,859	M202T	probably benign	Het
AU019823	T	C	9: 50,607,461	R284G	probably benign	Het
Brd2	C	A	17: 34,112,898	V349F	probably damaging	Het
Btnl10	A	T	11: 58,926,865		probably benign	Het
Ccdc178	A	G	18: 22,120,534	V216A	possibly damaging	Het
Ccdc85c	A	T	12: 108,274,709	L142Q	unknown	Het
Cdc27	A	T	11: 104,528,694	S172T	probably damaging	Het
Ceacam14	T	C	7: 17,814,312	I109T	probably damaging	Het
Ces5a	C	T	8: 93,534,583	G72E	probably damaging	Het
Cfb	A	G	17: 34,861,824	Y66H	possibly damaging	Het
Clec14a	G	A	12: 58,268,215	P207L	probably damaging	Het
Csmd1	A	T	8: 15,903,212	I3423N	probably damaging	Het
Cyp4a29	C	A	4: 115,250,199	N243K	probably benign	Het
Ddx59	T	C	1: 136,416,872	F94L	probably damaging	Het
Dusp3	A	C	11: 101,986,871	V19G	probably benign	Het
Fat3	T	C	9: 15,916,984		probably benign	Het
Fgfr4	T	A	13: 55,166,108	V545E	probably damaging	Het
Fxn	G	T	19: 24,280,426	A47D	probably damaging	Het
Gdpgp1	A	T	7: 80,239,150	I310F	possibly damaging	Het
Gm7210	A	T	7: 11,594,113		noncoding transcript	Het
Grm7	G	T	6: 111,358,875	C749F	probably damaging	Het
Hps4	T	G	5: 112,346,629	V26G	probably damaging	Het
Igf1r	A	G	7: 68,165,233	D294G	probably benign	Het
Immp1l	T	C	2: 105,930,827	F27S	probably benign	Het
Kcnk3	T	A	5: 30,622,586	C327S	probably damaging	Het
Kif13a	T	A	13: 46,815,207		probably null	Het
Krtap5-4	T	C	7: 142,304,090	S166P	unknown	Het
Lyst	G	A	13: 13,743,311	D3319N	possibly damaging	Het
Malrd1	T	G	2: 16,042,267	S1735A	unknown	Het
Myh4	A	G	11: 67,243,442	T308A	probably benign	Het
Myh8	A	T	11: 67,299,341	Q1269L	probably benign	Het
Myo15b	G	A	11: 115,890,831	V1367I	probably damaging	Het
Nae1	T	C	8: 104,523,637	D208G	probably benign	Het
Nelfe	T	A	17: 34,854,456	V296D	probably damaging	Het
Npepps	A	T	11: 97,218,548	V734E	probably damaging	Het
Ogdh	A	G	11: 6,349,390	N752S	probably damaging	Het
Olfr1094	A	G	2: 86,829,654	I301V	possibly damaging	Het
Olfr266	T	C	3: 106,822,187	D124G	probably damaging	Het
Olfr401	A	T	11: 74,121,721	Q144L	possibly damaging	Het
Olfr906	T	C	9: 38,488,377	M116T	probably benign	Het
Otof	C	A	5: 30,414,544	G171V	probably damaging	Het
Phtf2	A	T	5: 20,801,941	V208D	probably damaging	Het
Pkn1	T	A	8: 83,683,591	T340S	probably damaging	Het
Plcd4	C	T	1: 74,563,594	L668F	possibly damaging	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Prss50	A	T	9: 110,861,299	D170V	probably damaging	Het
Ptprg	T	C	14: 12,237,118	V604A	probably damaging	Het
Rab33b	T	C	3: 51,493,405	V100A	probably damaging	Het
Rbm26	T	A	14: 105,131,535	D736V	probably damaging	Het
Rela	C	A	19: 5,646,964	P400T	probably benign	Het
Rpusd4	T	C	9: 35,268,038	L50P	probably damaging	Het
Scn10a	A	C	9: 119,627,115	Y1214D	probably damaging	Het
Sema3c	A	G	5: 17,672,432	E179G	probably damaging	Het
Skint5	T	A	4: 113,517,133	D1253V	unknown	Het
Sp4	G	T	12: 118,238,178	P771H	probably damaging	Het
Sphkap	T	A	1: 83,278,378	Y263F	probably damaging	Het
Ssbp1	G	A	6: 40,476,753	V78I	probably benign	Het
St3gal6	A	G	16: 58,486,406	I87T	probably benign	Het
Tango6	T	A	8: 106,818,497	D997E	probably benign	Het
Tpr	C	T	1: 150,445,888	P2265S	possibly damaging	Het
Ttc7b	A	T	12: 100,325,677	F212Y	probably damaging	Het
Ubc	A	G	5: 125,388,260	M1T	probably null	Het
Vill	G	C	9: 119,063,648	Q376H	probably benign	Het
Yes1	T	C	5: 32,651,686	I132T	possibly damaging	Het
Ythdc2	A	G	18: 44,860,377	T830A	probably benign	Het
Zbtb41	T	A	1: 139,430,306	F451I	possibly damaging	Het
Zfp995	C	T	17: 21,880,512	C247Y	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
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

Predicted Primers

PCR Primer
(F):5'- CGCGCGTATCTGTTCTGATC -3'
(R):5'- ACAAGTGTGACAAGGTACTCC -3'

Sequencing Primer
(F):5'- GCGTATCTGTTCTGATCCACTC -3'
(R):5'- ACCCTGATGAGCCAAGTTTG -3'

Posted On

2018-04-02