Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02008:Clec16a'

183236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clec16a

Ensembl Gene

ENSMUSG00000068663

Gene Name

C-type lectin domain family 16, member A

Synonyms

4932416N17Rik, curt

Accession Numbers

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

Is this an essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

10545339-10744878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10580960 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 330 (V330A)

Ref Sequence

ENSEMBL: ENSMUSP00000065423 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038145
AA Change: V328A

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040267
Gene: ENSMUSG00000068663
AA Change: V328A

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: V330A

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

SMART Domains

Protein: ENSMUSP00000065423
Gene: ENSMUSG00000068663
AA Change: V330A

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: ENSMUST00000115824
AA Change: V330A

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

SMART Domains

Protein: ENSMUSP00000111490
Gene: ENSMUSG00000068663
AA Change: V330A

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

possibly damaging
Transcript: ENSMUST00000115827
AA Change: V328A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111493
Gene: ENSMUSG00000068663
AA Change: V328A

Domain	Start	End	E-Value	Type
Pfam:FPL	51	199	8.7e-61	PFAM
low complexity region	395	408	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115828
AA Change: V328A

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111494
Gene: ENSMUSG00000068663
AA Change: V328A

Domain	Start	End	E-Value	Type
Pfam:FPL	51	199	2.1e-61	PFAM
low complexity region	395	408	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155633
AA Change: V328A

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123189
Gene: ENSMUSG00000068663
AA Change: V328A

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

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,176,101	T2252A	probably benign	Het
Abcc2	C	T	19: 43,821,750		probably benign	Het
Abcf1	T	C	17: 35,962,062	E231G	probably benign	Het
Astn2	T	C	4: 66,059,153	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,538,695		probably benign	Het
Atr	T	A	9: 95,881,420		probably benign	Het
Bdp1	A	G	13: 100,023,827	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,560,966	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,715,924	S218G	probably null	Het
Cand2	T	C	6: 115,803,638	V1161A	probably damaging	Het
Cpsf1	A	T	15: 76,603,091	V161D	probably damaging	Het
Ctsh	A	G	9: 90,061,547	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,688,923	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,688,924	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,091,099	W212*	probably null	Het
Dnah5	T	A	15: 28,343,552	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,612,920	M794T	probably damaging	Het
F11	G	T	8: 45,250,095	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,532,823	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705	I347V	probably benign	Het
Fip1l1	C	T	5: 74,545,423	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,546,450	D598A	probably benign	Het
Gm1110	T	A	9: 26,883,230	D500V	probably benign	Het
Gm1840	A	T	8: 5,639,896		noncoding transcript	Het
Gm3248	T	A	14: 5,943,928	M99L	probably benign	Het
Gm906	G	A	13: 50,246,685	P535L	probably benign	Het
Hspa9	G	A	18: 34,947,975	R218*	probably null	Het
Ikbip	G	A	10: 91,093,257		probably null	Het
Kcnb2	C	T	1: 15,710,809	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,978,279	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,570,957	T442A	probably benign	Het
Mgat1	T	A	11: 49,260,735	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,385,151	S334R	probably benign	Het
Notch2	A	T	3: 98,147,296	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,213,263	V520M	probably damaging	Het
Olfr1089	A	C	2: 86,733,177	I145R	possibly damaging	Het
Olfr1167	A	T	2: 88,149,578	V147E	probably damaging	Het
Olfr1179	T	A	2: 88,402,077	T286S	possibly damaging	Het
Olfr149	A	G	9: 39,702,253	V172A	probably damaging	Het
Olfr803	T	A	10: 129,692,018	T8S	probably benign	Het
Olfr972	A	T	9: 39,873,485	D70V	probably damaging	Het
Osr2	A	G	15: 35,301,992	H246R	probably damaging	Het
Papolg	T	C	11: 23,879,898	R224G	probably damaging	Het
Pax6	T	A	2: 105,692,278		probably null	Het
Pcyox1	A	G	6: 86,392,268	V192A	probably benign	Het
Phf1	C	T	17: 26,935,286	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,332,391	R45W	probably damaging	Het
Psmb9	T	A	17: 34,183,679	K109M	probably damaging	Het
Ptprt	T	A	2: 161,927,673	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,689,766	I70V	probably benign	Het
Rnf213	G	A	11: 119,418,309		probably benign	Het
Rom1	T	A	19: 8,928,004	I271F	probably benign	Het
Satb2	T	A	1: 56,796,793	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,448,129	G159V	possibly damaging	Het
Slit1	T	C	19: 41,646,140	I393V	probably damaging	Het
Spata20	T	A	11: 94,483,463	D327V	probably damaging	Het
Tbc1d32	G	T	10: 56,151,775	Q744K	possibly damaging	Het
Thegl	A	T	5: 77,060,758	I378L	probably benign	Het
Tmem108	G	T	9: 103,489,240	N517K	possibly damaging	Het
Trp63	T	A	16: 25,862,461	N160K	probably damaging	Het
Ttll5	T	C	12: 85,933,611	S119P	probably damaging	Het
Ubqln3	T	A	7: 104,142,316	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,737,776	R638H	probably benign	Het
Wdr3	A	G	3: 100,150,982	S436P	probably damaging	Het
Zfp975	A	T	7: 42,662,791	C133S	probably damaging	Het
Zfp976	A	T	7: 42,614,232		probably benign	Het
Zmiz1	A	G	14: 25,656,879	M860V	probably damaging	Het
Zscan4d	T	C	7: 11,162,369	E358G	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
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	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

Posted On

2014-05-07