Mutagenetix > Incidental Mutations

Incidental Mutation 'R0556:Clec16a'

45587

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

038748-MU

Accession Numbers

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

Is this an essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R0556 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

10545339-10744878 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 10638785 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123189 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000038145

SMART Domains

Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663

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 null
Transcript: ENSMUST00000066345

SMART Domains

Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663

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 null
Transcript: ENSMUST00000066345

SMART Domains

Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663

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 null
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 null
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 null
Transcript: ENSMUST00000115824

SMART Domains

Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663

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 null
Transcript: ENSMUST00000115824

SMART Domains

Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663

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 null
Transcript: ENSMUST00000115827

SMART Domains

Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663

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

noncoding transcript
Transcript: ENSMUST00000145866

Predicted Effect

probably null
Transcript: ENSMUST00000155633

SMART Domains

Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663

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

0.9495

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.7%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 14,943,951	Y113*	probably null	Het
4930402F06Rik	T	C	2: 35,390,470		probably benign	Het
4931406P16Rik	T	C	7: 34,239,797	T222A	probably damaging	Het
9530053A07Rik	C	T	7: 28,159,378	H2308Y	probably benign	Het
Acad11	A	G	9: 104,115,302	E481G	probably damaging	Het
Aldh1a1	A	T	19: 20,634,478	N389Y	probably damaging	Het
Bmpr2	C	T	1: 59,815,328	T112M	probably damaging	Het
Bms1	A	G	6: 118,413,179	Y227H	probably damaging	Het
Cab39	A	G	1: 85,835,491		probably benign	Het
Ccno	T	C	13: 112,988,286		probably null	Het
Cct6b	A	G	11: 82,719,444		probably benign	Het
Cd101	A	C	3: 101,020,654	I37S	probably damaging	Het
Ces1a	T	C	8: 93,045,112	H19R	probably benign	Het
Cntnap1	T	C	11: 101,183,996	F831S	probably benign	Het
Col24a1	A	G	3: 145,314,728	T287A	possibly damaging	Het
Colgalt2	C	T	1: 152,471,813		probably benign	Het
Cpd	A	G	11: 76,802,345		probably benign	Het
Cyp3a16	C	A	5: 145,455,980	M145I	probably benign	Het
Ddx54	T	A	5: 120,619,654		probably benign	Het
Dock7	A	T	4: 98,945,189	L1925Q	probably damaging	Het
Eif4g1	A	T	16: 20,675,794	Y127F	probably damaging	Het
Erap1	T	A	13: 74,660,325	V52E	probably damaging	Het
Fbxo6	G	T	4: 148,146,175	T210N	probably damaging	Het
Gnat3	T	G	5: 18,019,598	V332G	probably damaging	Het
Ift22	T	A	5: 136,911,291		probably null	Het
Igkv4-71	A	G	6: 69,243,187	C109R	probably damaging	Het
Igsf10	A	G	3: 59,328,875	L1295P	probably benign	Het
Itga4	T	C	2: 79,325,639	I983T	probably benign	Het
Lhcgr	A	T	17: 88,772,063	V65D	probably damaging	Het
Mau2	G	C	8: 70,042,432	T85R	probably damaging	Het
Morc2a	T	C	11: 3,681,809		probably null	Het
Morc2b	A	T	17: 33,137,838	M320K	probably benign	Het
Ms4a18	C	A	19: 11,013,701	V10F	probably damaging	Het
Mstn	A	T	1: 53,064,125	I207F	probably benign	Het
Mtor	A	G	4: 148,469,380	E812G	possibly damaging	Het
Myo1h	A	G	5: 114,319,791	Y121C	probably damaging	Het
Nov	A	T	15: 54,749,167	T191S	probably damaging	Het
Olfr1196	A	C	2: 88,700,771	V186G	possibly damaging	Het
Olfr743	T	C	14: 50,533,924	S171P	probably benign	Het
Olfr920	A	T	9: 38,755,745	D19V	possibly damaging	Het
Plcd3	G	A	11: 103,077,806	T353M	probably damaging	Het
Pnpla7	T	A	2: 25,052,301		probably null	Het
Ppp1r12b	T	A	1: 134,777,322	Y876F	probably damaging	Het
Prelid2	T	A	18: 41,951,180		probably benign	Het
Prickle1	A	G	15: 93,500,781	L722P	probably benign	Het
Prr12	A	G	7: 45,030,669	L1887P	unknown	Het
Ptk2b	A	G	14: 66,172,144	L481P	probably damaging	Het
Rgl3	T	A	9: 21,975,844	K531*	probably null	Het
Sacs	A	G	14: 61,183,958	I115V	probably damaging	Het
Sept3	G	T	15: 82,283,765		probably benign	Het
Simc1	T	C	13: 54,525,347	S503P	probably benign	Het
Stard9	T	C	2: 120,698,923	V1887A	probably benign	Het
Synj2	T	A	17: 6,037,955	L1427*	probably null	Het
Taar2	A	G	10: 23,940,895	D111G	probably damaging	Het
Tlr5	A	G	1: 182,974,151	N340S	probably damaging	Het
Tmco2	A	G	4: 121,109,117	L14P	probably damaging	Het
Tnik	A	T	3: 28,625,218	D746V	possibly damaging	Het
Trip11	C	A	12: 101,884,518	E811*	probably null	Het
Ttll9	T	C	2: 152,973,606		probably null	Het
Uchl1	A	G	5: 66,682,481	E122G	probably benign	Het
Vwa3b	C	A	1: 37,164,485		probably benign	Het
Zan	T	C	5: 137,454,220	N1533S	unknown	Het
Zfp687	G	T	3: 95,010,408	D684E	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
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	unclassified	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

Predicted Primers

PCR Primer
(F):5'- GCTGTGAAACCAGTGCCAAGAAC -3'
(R):5'- CGTGAGGCTATTCTTTCCAGGTGAC -3'

Sequencing Primer
(F):5'- GCCTCTGGAAAACAGTGTTAAAC -3'
(R):5'- TCCAGGTGACTAGACACCTATTG -3'

Posted On

2013-06-11