Mutagenetix > Incidental Mutation

Incidental Mutation 'R0512:Clec16a'

47940

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

038706-MU

Accession Numbers

Essential gene?

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

Stock #

R0512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10363203-10562742 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10432444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 488 (Y488C)

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: Y504C

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

SMART Domains

Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663
AA Change: Y504C

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: Y490C

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

SMART Domains

Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663
AA Change: Y490C

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: Y69C

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

SMART Domains

Protein: ENSMUSP00000111489
Gene: ENSMUSG00000068663
AA Change: Y69C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115824
AA Change: Y490C

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

SMART Domains

Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663
AA Change: Y490C

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: Y504C

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

SMART Domains

Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663
AA Change: Y504C

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: Y504C

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

SMART Domains

Protein: ENSMUSP00000111494
Gene: ENSMUSG00000068663
AA Change: Y504C

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

probably damaging
Transcript: ENSMUST00000155633
AA Change: Y488C

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

SMART Domains

Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663
AA Change: Y488C

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

0.8712

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (92/92)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	G	5: 115,001,569 (GRCm39)	M22R	probably benign	Het
Abca8b	C	A	11: 109,841,476 (GRCm39)	M1039I	probably benign	Het
Actn2	A	T	13: 12,292,301 (GRCm39)	I653N	probably damaging	Het
Actr8	G	T	14: 29,700,513 (GRCm39)	V31L	probably benign	Het
Adam30	T	C	3: 98,069,441 (GRCm39)	C425R	probably damaging	Het
Armc1	A	G	3: 19,203,659 (GRCm39)	V89A	possibly damaging	Het
Atr	T	C	9: 95,817,579 (GRCm39)	M2090T	probably damaging	Het
Braf	T	A	6: 39,641,923 (GRCm39)		probably benign	Het
Cant1	A	T	11: 118,302,091 (GRCm39)	N75K	probably benign	Het
Chd7	C	T	4: 8,805,139 (GRCm39)		probably benign	Het
Col6a3	A	T	1: 90,749,520 (GRCm39)		probably benign	Het
Col9a2	T	A	4: 120,911,504 (GRCm39)	M615K	probably benign	Het
Dedd	G	A	1: 171,168,498 (GRCm39)	R228H	probably damaging	Het
Dhtkd1	C	T	2: 5,908,902 (GRCm39)	D731N	probably damaging	Het
Ercc2	A	G	7: 19,127,812 (GRCm39)	T651A	probably damaging	Het
Fam13a	T	A	6: 58,933,684 (GRCm39)	D302V	probably damaging	Het
Fam193a	T	C	5: 34,583,735 (GRCm39)	S19P	probably damaging	Het
Fam43a	T	C	16: 30,420,553 (GRCm39)	V379A	possibly damaging	Het
Fat1	C	A	8: 45,404,369 (GRCm39)	Y373*	probably null	Het
Fbxl15	A	C	19: 46,317,861 (GRCm39)	D181A	probably damaging	Het
Flt3	A	T	5: 147,278,080 (GRCm39)	C831*	probably null	Het
Foxj3	T	A	4: 119,443,033 (GRCm39)		probably benign	Het
Glul	T	C	1: 153,781,132 (GRCm39)		probably benign	Het
Gm16380	A	T	9: 53,791,529 (GRCm39)		noncoding transcript	Het
Gm7964	A	T	7: 83,405,158 (GRCm39)		noncoding transcript	Het
Hipk1	A	G	3: 103,667,890 (GRCm39)	F559S	possibly damaging	Het
Hnf4g	A	T	3: 3,716,682 (GRCm39)	I284F	probably damaging	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Icosl	A	G	10: 77,907,800 (GRCm39)	N120S	possibly damaging	Het
Ift172	A	G	5: 31,442,821 (GRCm39)	V155A	possibly damaging	Het
Kdm4c	A	G	4: 74,252,031 (GRCm39)	E426G	probably benign	Het
Kif23	A	G	9: 61,826,257 (GRCm39)		probably benign	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,086,129 (GRCm39)	C1456Y	possibly damaging	Het
Lamc3	T	A	2: 31,827,980 (GRCm39)	L1378Q	probably damaging	Het
Larp1b	T	A	3: 40,924,469 (GRCm39)	L121M	probably benign	Het
Lepr	T	A	4: 101,649,216 (GRCm39)	D872E	probably damaging	Het
Lepr	A	C	4: 101,671,901 (GRCm39)	D975A	possibly damaging	Het
Magi1	A	G	6: 93,671,045 (GRCm39)	V1068A	probably damaging	Het
Malt1	T	A	18: 65,591,271 (GRCm39)	N358K	probably damaging	Het
Mfap4	T	A	11: 61,378,771 (GRCm39)	W240R	probably damaging	Het
Mis18a	A	G	16: 90,523,244 (GRCm39)	V84A	possibly damaging	Het
Mns1	A	G	9: 72,356,753 (GRCm39)	E308G	possibly damaging	Het
Mpp2	C	A	11: 101,953,116 (GRCm39)	L258F	possibly damaging	Het
Myh2	A	G	11: 67,079,504 (GRCm39)	E987G	probably damaging	Het
Myof	A	G	19: 37,942,972 (GRCm39)	V702A	possibly damaging	Het
Nhs	C	A	X: 160,620,355 (GRCm39)	R1467I	probably damaging	Het
Nrxn2	A	G	19: 6,567,228 (GRCm39)	T1360A	probably damaging	Het
Obox6	A	G	7: 15,567,874 (GRCm39)	I191T	probably benign	Het
Pacs2	G	T	12: 113,014,547 (GRCm39)	R236L	probably damaging	Het
Pcdhb2	T	G	18: 37,429,032 (GRCm39)	V335G	probably damaging	Het
Phyhipl	T	C	10: 70,404,748 (GRCm39)	I140M	probably damaging	Het
Pkhd1	T	C	1: 20,380,738 (GRCm39)		probably benign	Het
Ppp1r3b	T	G	8: 35,851,571 (GRCm39)	C137G	probably damaging	Het
Prdm13	T	A	4: 21,678,490 (GRCm39)	I667F	probably damaging	Het
Prex2	A	G	1: 11,270,157 (GRCm39)	M1281V	probably benign	Het
Rab40b	A	G	11: 121,250,412 (GRCm39)	F81L	probably damaging	Het
Rb1cc1	T	C	1: 6,318,767 (GRCm39)	S729P	probably damaging	Het
Rcl1	A	G	19: 29,105,497 (GRCm39)	D228G	probably damaging	Het
Rhbdf1	A	T	11: 32,160,875 (GRCm39)	C19*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf150	G	A	8: 83,590,807 (GRCm39)	V57M	probably benign	Het
Rp9	A	G	9: 22,370,015 (GRCm39)	F51L	probably benign	Het
Sav1	A	T	12: 70,015,975 (GRCm39)	Y274*	probably null	Het
Scn4a	A	T	11: 106,236,503 (GRCm39)	D252E	probably damaging	Het
Scn5a	T	C	9: 119,379,724 (GRCm39)	T187A	probably damaging	Het
Sigirr	T	A	7: 140,672,333 (GRCm39)	D229V	probably benign	Het
Slc39a13	T	C	2: 90,896,031 (GRCm39)	S157G	possibly damaging	Het
Slc6a20a	A	G	9: 123,489,471 (GRCm39)	S191P	probably damaging	Het
Sorl1	C	A	9: 41,979,128 (GRCm39)	A457S	probably benign	Het
Spag5	A	G	11: 78,210,412 (GRCm39)		probably benign	Het
Spon1	A	G	7: 113,436,066 (GRCm39)	E119G	possibly damaging	Het
Spred2	T	A	11: 19,958,485 (GRCm39)		probably benign	Het
Sprr3	T	G	3: 92,364,784 (GRCm39)	Q20P	possibly damaging	Het
Strn3	A	T	12: 51,673,966 (GRCm39)	F464L	possibly damaging	Het
Sun1	A	G	5: 139,220,602 (GRCm39)		probably benign	Het
Sypl2	A	G	3: 108,133,486 (GRCm39)	W28R	possibly damaging	Het
Syt5	A	T	7: 4,545,813 (GRCm39)	V150D	probably damaging	Het
Tasor	T	C	14: 27,168,363 (GRCm39)	F302L	probably damaging	Het
Thsd7a	A	G	6: 12,379,604 (GRCm39)	I940T	possibly damaging	Het
Tlcd3b	C	T	7: 126,426,795 (GRCm39)	R73C	probably damaging	Het
Tnrc6a	T	A	7: 122,785,951 (GRCm39)		probably benign	Het
Trp53	T	A	11: 69,479,509 (GRCm39)	L203Q	probably damaging	Het
Tubgcp4	T	C	2: 121,005,900 (GRCm39)	V96A	probably benign	Het
Usp17la	A	G	7: 104,510,246 (GRCm39)	T284A	possibly damaging	Het
Usp34	T	C	11: 23,401,997 (GRCm39)	M2409T	probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,449,350 (GRCm39)	I296T	probably benign	Het
Vmn2r67	A	G	7: 84,799,900 (GRCm39)	V446A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp267	T	C	3: 36,220,262 (GRCm39)	C762R	probably damaging	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
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
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'- ATGTGTTCCCAGTGCCTGATTCTG -3'
(R):5'- AGTCACCAATGCCTGTGGCTTC -3'

Sequencing Primer
(F):5'- CAAGCTAGTAGCCTTAGACCTGTG -3'
(R):5'- CACCTGAGAAATTGTAATGAGGC -3'

Posted On

2013-06-12