Mutagenetix > Incidental Mutation

Incidental Mutation 'R4331:Clec16a'

500581

Institutional Source

Beutler Lab

Gene Symbol

Clec16a

Ensembl Gene

ENSMUSG00000068663

Gene Name

C-type lectin domain family 16, member A

Synonyms

curt, 4932416N17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R4331 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

10363203-10562742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10389533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 200 (V200A)

Ref Sequence

ENSEMBL: ENSMUSP00000111490 (fasta)

Gene Model

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

AlphaFold

Q80U30

Predicted Effect

probably benign
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 benign
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 benign
Transcript: ENSMUST00000115824
AA Change: V200A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663
AA Change: V200A

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

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

probably benign
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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,111,880 (GRCm39)	Y301C	probably damaging	Het
Ahnak	G	A	19: 8,993,184 (GRCm39)	D4823N	probably damaging	Het
Angptl2	A	T	2: 33,118,760 (GRCm39)	D178V	probably damaging	Het
Capn8	A	T	1: 182,432,019 (GRCm39)	D330V	probably damaging	Het
Fcrla	C	T	1: 170,749,245 (GRCm39)	R96Q	possibly damaging	Het
Lrpprc	A	G	17: 85,047,970 (GRCm39)		probably null	Het
Map4k5	A	T	12: 69,874,148 (GRCm39)	S425T	probably benign	Het
Mthfsl	A	G	9: 88,570,834 (GRCm39)	V195A	probably damaging	Het
Myocd	A	T	11: 65,114,590 (GRCm39)	H49Q	probably benign	Het
Nlk	A	G	11: 78,481,774 (GRCm39)	I229T	possibly damaging	Het
Plxna4	G	A	6: 32,127,480 (GRCm39)	Q1876*	probably null	Het
Ramp1	C	T	1: 91,151,067 (GRCm39)	T144I	possibly damaging	Het
Rhbdf2	A	G	11: 116,493,122 (GRCm39)	Y375H	probably damaging	Het
Scpep1	G	A	11: 88,826,729 (GRCm39)	Q236*	probably null	Het
Ssc5d	G	A	7: 4,945,725 (GRCm39)	G919D	probably benign	Het
Vmn1r60	A	T	7: 5,547,364 (GRCm39)	C245*	probably null	Het
Vmn2r103	T	A	17: 20,014,495 (GRCm39)	M429K	probably benign	Het
Zfp28	A	T	7: 6,396,700 (GRCm39)	Q378H	probably benign	Het

Other mutations in Clec16a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Clec16a	APN	16	10,413,760 (GRCm39)	missense	probably damaging	1.00
IGL00503:Clec16a	APN	16	10,512,513 (GRCm39)	missense	possibly damaging	0.53
IGL01622:Clec16a	APN	16	10,395,774 (GRCm39)	missense	possibly damaging	0.47
IGL01623:Clec16a	APN	16	10,395,774 (GRCm39)	missense	possibly damaging	0.47
IGL02008:Clec16a	APN	16	10,398,824 (GRCm39)	missense	probably damaging	1.00
IGL02082:Clec16a	APN	16	10,432,432 (GRCm39)	missense	probably damaging	1.00
IGL02468:Clec16a	APN	16	10,559,742 (GRCm39)	missense	probably benign	0.13
IGL02499:Clec16a	APN	16	10,512,540 (GRCm39)	missense	probably benign	0.25
IGL02671:Clec16a	APN	16	10,445,245 (GRCm39)	missense	probably benign	0.19
G5030:Clec16a	UTSW	16	10,389,425 (GRCm39)	missense	probably damaging	1.00
IGL03055:Clec16a	UTSW	16	10,559,645 (GRCm39)	missense	probably damaging	0.99
P0014:Clec16a	UTSW	16	10,378,020 (GRCm39)	splice site	probably benign
R0183:Clec16a	UTSW	16	10,377,886 (GRCm39)	missense	probably damaging	1.00
R0268:Clec16a	UTSW	16	10,462,692 (GRCm39)	nonsense	probably null
R0512:Clec16a	UTSW	16	10,432,444 (GRCm39)	missense	probably damaging	1.00
R0556:Clec16a	UTSW	16	10,456,649 (GRCm39)	critical splice acceptor site	probably null
R0944:Clec16a	UTSW	16	10,506,510 (GRCm39)	splice site	probably benign
R1456:Clec16a	UTSW	16	10,509,419 (GRCm39)	missense	probably damaging	1.00
R1497:Clec16a	UTSW	16	10,453,123 (GRCm39)	missense	probably damaging	1.00
R1580:Clec16a	UTSW	16	10,413,762 (GRCm39)	missense	probably damaging	1.00
R1933:Clec16a	UTSW	16	10,506,403 (GRCm39)	missense	probably damaging	0.99
R2075:Clec16a	UTSW	16	10,559,480 (GRCm39)	missense	probably benign	0.09
R2269:Clec16a	UTSW	16	10,462,650 (GRCm39)	missense	probably damaging	1.00
R2504:Clec16a	UTSW	16	10,377,551 (GRCm39)	intron	probably benign
R3011:Clec16a	UTSW	16	10,428,975 (GRCm39)	missense	probably benign	0.01
R4616:Clec16a	UTSW	16	10,462,747 (GRCm39)	critical splice donor site	probably null
R4775:Clec16a	UTSW	16	10,456,778 (GRCm39)	missense	probably damaging	1.00
R4969:Clec16a	UTSW	16	10,386,375 (GRCm39)	missense	probably damaging	1.00
R5053:Clec16a	UTSW	16	10,394,461 (GRCm39)	missense	probably damaging	1.00
R5170:Clec16a	UTSW	16	10,559,655 (GRCm39)	missense	probably benign
R5329:Clec16a	UTSW	16	10,549,543 (GRCm39)	missense	probably damaging	0.99
R5331:Clec16a	UTSW	16	10,549,543 (GRCm39)	missense	probably damaging	0.99
R5332:Clec16a	UTSW	16	10,549,543 (GRCm39)	missense	probably damaging	0.99
R5417:Clec16a	UTSW	16	10,549,543 (GRCm39)	missense	probably damaging	0.99
R5419:Clec16a	UTSW	16	10,549,543 (GRCm39)	missense	probably damaging	0.99
R5420:Clec16a	UTSW	16	10,549,543 (GRCm39)	missense	probably damaging	0.99
R5457:Clec16a	UTSW	16	10,363,396 (GRCm39)	splice site	probably null
R5623:Clec16a	UTSW	16	10,428,985 (GRCm39)	missense	probably benign	0.07
R6057:Clec16a	UTSW	16	10,447,951 (GRCm39)	missense	probably damaging	1.00
R6184:Clec16a	UTSW	16	10,390,792 (GRCm39)	splice site	probably null
R6235:Clec16a	UTSW	16	10,512,499 (GRCm39)	missense	probably damaging	1.00
R6260:Clec16a	UTSW	16	10,512,712 (GRCm39)	intron	probably benign
R6292:Clec16a	UTSW	16	10,378,015 (GRCm39)	critical splice donor site	probably null
R6318:Clec16a	UTSW	16	10,448,652 (GRCm39)	missense	probably damaging	1.00
R6894:Clec16a	UTSW	16	10,462,718 (GRCm39)	missense	probably damaging	1.00
R7340:Clec16a	UTSW	16	10,398,827 (GRCm39)	missense	probably null	0.21
R7432:Clec16a	UTSW	16	10,506,419 (GRCm39)	missense	possibly damaging	0.62
R7453:Clec16a	UTSW	16	10,462,686 (GRCm39)	missense	probably damaging	1.00
R7536:Clec16a	UTSW	16	10,456,708 (GRCm39)	missense	possibly damaging	0.90
R8207:Clec16a	UTSW	16	10,512,574 (GRCm39)	missense	probably damaging	1.00
R8207:Clec16a	UTSW	16	10,445,312 (GRCm39)	missense	probably benign	0.00
R8423:Clec16a	UTSW	16	10,394,527 (GRCm39)	missense	probably benign	0.04
R8447:Clec16a	UTSW	16	10,559,487 (GRCm39)	missense	probably benign	0.09
R8700:Clec16a	UTSW	16	10,506,422 (GRCm39)	missense	probably damaging	1.00
R8855:Clec16a	UTSW	16	10,462,731 (GRCm39)	missense	probably damaging	1.00
R9143:Clec16a	UTSW	16	10,428,964 (GRCm39)	missense	probably damaging	0.96
R9676:Clec16a	UTSW	16	10,559,823 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AATGACTTTGCCCTGTACACAG -3'
(R):5'- TGTGATGTGAAATGCTCTCATGC -3'

Sequencing Primer
(F):5'- TTTGCCCTGTACACAGAAGCC -3'
(R):5'- GCTTTATCTAATTAGCTTATGGCCAC -3'

Posted On

2017-12-01