Mutagenetix > Incidental Mutation

Incidental Mutation 'R7453:Clec16a'

577941

Institutional Source

Beutler Lab

Gene Symbol

Clec16a

Ensembl Gene

ENSMUSG00000068663

Gene Name

C-type lectin domain family 16, member A

Synonyms

curt, 4932416N17Rik

MMRRC Submission

045527-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7453 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10363203-10562742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 10462686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 668 (T668N)

Ref Sequence

ENSEMBL: ENSMUSP00000123189 (fasta)

Gene Model

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

AlphaFold

Q80U30

Predicted Effect

probably damaging
Transcript: ENSMUST00000038145
AA Change: T684N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663
AA Change: T684N

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: T670N

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

SMART Domains

Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663
AA Change: T670N

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: T249N

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

SMART Domains

Protein: ENSMUSP00000111489
Gene: ENSMUSG00000068663
AA Change: T249N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115824
AA Change: T670N

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

SMART Domains

Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663
AA Change: T670N

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
AA Change: T684N

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663
AA Change: T684N

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 damaging
Transcript: ENSMUST00000155633
AA Change: T668N

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

SMART Domains

Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663
AA Change: T668N

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (122/122)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,309 (GRCm39)	S32P	possibly damaging	Het
Acaca	T	C	11: 84,136,136 (GRCm39)	V497A	probably benign	Het
Acox1	T	C	11: 116,071,787 (GRCm39)	T214A	probably benign	Het
Adgrb2	G	A	4: 129,908,430 (GRCm39)		probably null	Het
Adh1	G	A	3: 137,995,702 (GRCm39)		probably null	Het
Angptl1	G	T	1: 156,672,421 (GRCm39)	M82I	probably benign	Het
Arg1	A	G	10: 24,791,674 (GRCm39)	L269P	probably damaging	Het
Arid2	T	G	15: 96,268,605 (GRCm39)	V906G	probably benign	Het
Arid5b	A	T	10: 68,078,994 (GRCm39)	H114Q	probably benign	Het
Atad5	T	C	11: 80,009,969 (GRCm39)		probably null	Het
AU040320	G	A	4: 126,729,493 (GRCm39)		probably null	Het
B230104I21Rik	A	T	4: 154,432,185 (GRCm39)	T44S	unknown	Het
BC024063	G	A	10: 81,945,991 (GRCm39)	R537H	possibly damaging	Het
Bfsp2	A	T	9: 103,330,306 (GRCm39)	L177Q	probably damaging	Het
Birc5	C	A	11: 117,743,507 (GRCm39)	H80Q	probably damaging	Het
Bpifb9a	T	C	2: 154,106,615 (GRCm39)	L382P	probably damaging	Het
Ces2c	A	T	8: 105,576,302 (GRCm39)	N105I	probably benign	Het
Cfap91	A	G	16: 38,141,841 (GRCm39)	S364P	possibly damaging	Het
Cflar	G	A	1: 58,792,956 (GRCm39)	V441M		Het
Ckap4	A	G	10: 84,364,463 (GRCm39)	V200A	probably damaging	Het
Cntrl	A	C	2: 35,045,421 (GRCm39)	E1376D	possibly damaging	Het
Col18a1	A	T	10: 76,921,044 (GRCm39)		probably null	Het
Coq2	T	C	5: 100,811,452 (GRCm39)	Y179C	probably benign	Het
Cpne6	A	G	14: 55,749,473 (GRCm39)	E11G	probably benign	Het
Cr2	A	C	1: 194,847,565 (GRCm39)		probably null	Het
Csf2rb2	C	T	15: 78,169,491 (GRCm39)	D555N	probably benign	Het
Cyp2j12	A	T	4: 95,990,363 (GRCm39)	V401D	possibly damaging	Het
Dbp	C	T	7: 45,355,127 (GRCm39)	A27V	probably benign	Het
Dll1	C	A	17: 15,595,151 (GRCm39)	R42L	probably benign	Het
Dst	C	A	1: 34,230,439 (GRCm39)	H2677Q	possibly damaging	Het
Efl1	G	T	7: 82,330,675 (GRCm39)	V283F	possibly damaging	Het
Enah	C	T	1: 181,789,470 (GRCm39)	C7Y	unknown	Het
Fam193a	A	T	5: 34,621,460 (GRCm39)	E1139V	possibly damaging	Het
Fbn1	G	A	2: 125,162,879 (GRCm39)	P2136S	possibly damaging	Het
Fggy	T	C	4: 95,485,927 (GRCm39)	V91A	probably damaging	Het
Fn1	T	A	1: 71,630,039 (GRCm39)	D2343V	probably damaging	Het
Galk2	T	C	2: 125,729,781 (GRCm39)	V54A	possibly damaging	Het
Glb1l	T	A	1: 75,179,350 (GRCm39)	Y193F	probably damaging	Het
Gm45861	G	T	8: 28,031,686 (GRCm39)	R867L	unknown	Het
Grin2b	T	C	6: 135,717,947 (GRCm39)	D715G	possibly damaging	Het
Hltf	A	T	3: 20,136,916 (GRCm39)	R384S	possibly damaging	Het
Hs3st1	A	G	5: 39,772,310 (GRCm39)	M111T	probably damaging	Het
Idua	A	G	5: 108,829,362 (GRCm39)	T388A	probably benign	Het
Kat14	T	C	2: 144,222,654 (GRCm39)	S136P	possibly damaging	Het
Kif24	A	C	4: 41,394,673 (GRCm39)	C867W	possibly damaging	Het
Klhdc10	T	A	6: 30,447,989 (GRCm39)		probably null	Het
Klra10	A	G	6: 130,257,327 (GRCm39)	V59A	probably damaging	Het
Limk1	T	A	5: 134,698,091 (GRCm39)	I223F	probably damaging	Het
Lrp10	G	A	14: 54,705,913 (GRCm39)	G368S	probably damaging	Het
Lrrc7	T	C	3: 157,891,046 (GRCm39)	R374G	probably benign	Het
Lypd1	T	A	1: 125,801,303 (GRCm39)	M66L	probably benign	Het
Mast4	C	T	13: 102,941,149 (GRCm39)		probably null	Het
Mbp	C	T	18: 82,572,768 (GRCm39)	H155Y	probably damaging	Het
Micu3	G	A	8: 40,788,939 (GRCm39)	C150Y	probably benign	Het
Mras	C	T	9: 99,271,793 (GRCm39)	V174I	probably benign	Het
Mroh1	T	A	15: 76,317,745 (GRCm39)	I827N	probably damaging	Het
Ms4a12	C	A	19: 11,203,026 (GRCm39)	G101*	probably null	Het
Mylk2	A	T	2: 152,754,353 (GRCm39)	K149M	probably damaging	Het
Myom3	T	A	4: 135,528,346 (GRCm39)	L1064I	probably damaging	Het
Naa30	A	G	14: 49,425,144 (GRCm39)	*365W	probably null	Het
Ncoa1	C	T	12: 4,309,307 (GRCm39)	G1330R	probably damaging	Het
Nhlh1	T	A	1: 171,881,846 (GRCm39)	T7S	probably benign	Het
Nipsnap3a	A	G	4: 52,995,882 (GRCm39)	Q110R	probably benign	Het
Nostrin	T	C	2: 69,014,240 (GRCm39)	Y399H	possibly damaging	Het
Nsfl1c	C	A	2: 151,351,431 (GRCm39)	T263K	possibly damaging	Het
Nup153	T	C	13: 46,834,657 (GRCm39)	T1456A	probably damaging	Het
Or14j10	G	T	17: 37,935,276 (GRCm39)	D83E	probably benign	Het
Or1o2	T	C	17: 37,542,871 (GRCm39)	Y130C	probably damaging	Het
Or51e1	T	A	7: 102,358,724 (GRCm39)	I86N	probably damaging	Het
Or52z1	T	A	7: 103,436,879 (GRCm39)	I202F	possibly damaging	Het
Or5g26	T	A	2: 85,494,524 (GRCm39)	M85L	probably benign	Het
Or8d1b	A	T	9: 38,887,500 (GRCm39)	H176L	probably damaging	Het
Pan3	G	A	5: 147,463,491 (GRCm39)		probably null	Het
Pcdhgb2	C	T	18: 37,824,068 (GRCm39)	T353I	probably damaging	Het
Pcif1	A	T	2: 164,730,284 (GRCm39)	H339L	probably damaging	Het
Pcif1	A	G	2: 164,731,550 (GRCm39)	H501R	possibly damaging	Het
Pcnt	T	C	10: 76,225,284 (GRCm39)	H1740R	probably benign	Het
Polr1b	T	A	2: 128,967,583 (GRCm39)	I992N	probably damaging	Het
Ppfia2	C	T	10: 106,763,691 (GRCm39)	T1228M	possibly damaging	Het
Ppp2r5e	A	G	12: 75,509,116 (GRCm39)	F388L	probably damaging	Het
Ptpre	G	T	7: 135,139,803 (GRCm39)	R4L	unknown	Het
Pzp	G	T	6: 128,463,879 (GRCm39)	P1410T	probably damaging	Het
Qrich1	A	C	9: 108,433,675 (GRCm39)	K656T	possibly damaging	Het
Rabep1	C	T	11: 70,808,486 (GRCm39)	P481S	probably damaging	Het
Rgs9	T	A	11: 109,118,094 (GRCm39)	R579W	probably damaging	Het
Rhot1	T	C	11: 80,139,366 (GRCm39)		probably null	Het
Rnf123	T	A	9: 107,947,607 (GRCm39)		probably null	Het
Rreb1	T	G	13: 38,125,545 (GRCm39)	C1284G	probably damaging	Het
Rsph4a	A	G	10: 33,785,289 (GRCm39)	E400G	probably benign	Het
Rufy4	T	A	1: 74,168,493 (GRCm39)		probably null	Het
S100pbp	A	G	4: 129,075,878 (GRCm39)	L149P	probably damaging	Het
Sall3	T	C	18: 81,015,255 (GRCm39)	D891G	probably benign	Het
Scn10a	C	T	9: 119,467,618 (GRCm39)	V841I	probably benign	Het
Scn5a	T	A	9: 119,351,656 (GRCm39)	Y775F	possibly damaging	Het
Sec62	A	T	3: 30,863,945 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,856,583 (GRCm39)	M108K	unknown	Het
Spata22	T	A	11: 73,226,816 (GRCm39)		probably null	Het
Spmap2l	A	G	5: 77,208,633 (GRCm39)	H387R	probably damaging	Het
Stk4	A	G	2: 163,928,522 (GRCm39)	N118S	probably benign	Het
Stt3a	A	T	9: 36,659,266 (GRCm39)	S358T	possibly damaging	Het
Tbc1d31	T	A	15: 57,814,391 (GRCm39)	F531I	probably damaging	Het
Tfrc	A	G	16: 32,437,867 (GRCm39)	T307A	probably damaging	Het
Tnpo2	T	C	8: 85,781,651 (GRCm39)	I811T	probably damaging	Het
Ttc23l	T	C	15: 10,533,853 (GRCm39)	Y230C	probably damaging	Het
Ttll13	A	G	7: 79,910,182 (GRCm39)	D775G	probably benign	Het
Ttn	T	C	2: 76,775,273 (GRCm39)	K1969R	unknown	Het
Ube2s	G	A	7: 4,813,435 (GRCm39)	R110*	probably null	Het
Ubxn11	G	A	4: 133,853,540 (GRCm39)	R364Q	probably benign	Het
Unc13d	T	C	11: 115,958,697 (GRCm39)	Q773R	probably benign	Het
Ush2a	T	C	1: 188,285,308 (GRCm39)	V1948A	probably damaging	Het
Vmn1r205	A	T	13: 22,776,931 (GRCm39)	I57N	probably damaging	Het
Vmn2r69	GAAAA	GAAAAA	7: 85,060,768 (GRCm39)		probably null	Het
Vmn2r71	A	T	7: 85,273,297 (GRCm39)	T704S	probably benign	Het
Vmn2r93	T	A	17: 18,533,580 (GRCm39)	S495T	probably benign	Het
Wiz	T	A	17: 32,598,049 (GRCm39)	I102F	probably benign	Het
Zan	A	C	5: 137,464,264 (GRCm39)	L514V	probably damaging	Het
Zfp106	T	A	2: 120,341,008 (GRCm39)	N1857I	probably damaging	Het
Zfp106	A	T	2: 120,376,400 (GRCm39)		probably null	Het
Zfp738	T	C	13: 67,818,474 (GRCm39)	T506A	probably benign	Het
Zfp934	T	C	13: 62,666,517 (GRCm39)	N53S	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
R4331:Clec16a	UTSW	16	10,389,533 (GRCm39)	missense	probably benign
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
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'- GCTTCAAGGCCTGTTCTGTC -3'
(R):5'- GCTGTTCTCATGTCAGTGCG -3'

Sequencing Primer
(F):5'- AAGGCCTGTTCTGTCTCTCTTC -3'
(R):5'- TGGACCTTCTGCTGCCCAG -3'

Posted On

2019-10-07