Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Col16a1'

204006

Institutional Source

Beutler Lab

Gene Symbol

Col16a1

Ensembl Gene

ENSMUSG00000040690

Gene Name

collagen, type XVI, alpha 1

Synonyms

2700007F12Rik, [a]1 (XVI) collagen, A530052M23Rik

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130047840-130099283 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 130092782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044565] [ENSMUST00000143432] [ENSMUST00000143577] [ENSMUST00000143577]

AlphaFold

Q8BLX7

Predicted Effect

probably null
Transcript: ENSMUST00000044565

SMART Domains

Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSPN	50	231	1.07e-68	SMART
internal_repeat_4	330	355	2.35e-7	PROSPERO
Pfam:Collagen	372	431	1.6e-8	PFAM
low complexity region	441	507	N/A	INTRINSIC
low complexity region	525	542	N/A	INTRINSIC
internal_repeat_2	546	562	2.68e-9	PROSPERO
internal_repeat_1	547	580	9.92e-10	PROSPERO
Pfam:Collagen	584	646	1.5e-9	PFAM
internal_repeat_5	662	689	6.35e-7	PROSPERO
internal_repeat_3	662	731	1.96e-8	PROSPERO
internal_repeat_7	679	695	2.06e-5	PROSPERO
internal_repeat_6	682	730	7.63e-6	PROSPERO
internal_repeat_1	685	742	9.92e-10	PROSPERO
Pfam:Collagen	796	850	3.4e-9	PFAM
internal_repeat_5	859	889	6.35e-7	PROSPERO
low complexity region	891	922	N/A	INTRINSIC
low complexity region	990	1000	N/A	INTRINSIC
Pfam:Collagen	1001	1064	1.4e-10	PFAM
low complexity region	1090	1112	N/A	INTRINSIC
internal_repeat_7	1114	1130	2.06e-5	PROSPERO
low complexity region	1132	1162	N/A	INTRINSIC
low complexity region	1171	1222	N/A	INTRINSIC
low complexity region	1230	1282	N/A	INTRINSIC
internal_repeat_2	1283	1299	2.68e-9	PROSPERO
internal_repeat_6	1287	1335	7.63e-6	PROSPERO
Pfam:Collagen	1350	1411	1.8e-9	PFAM
Pfam:Collagen	1446	1503	5.3e-10	PFAM
low complexity region	1505	1525	N/A	INTRINSIC
low complexity region	1528	1549	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135675

Predicted Effect

probably benign
Transcript: ENSMUST00000143432

SMART Domains

Protein: ENSMUSP00000120384
Gene: ENSMUSG00000040690

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSPN	50	231	1.07e-68	SMART
internal_repeat_1	330	353	5.41e-8	PROSPERO
Pfam:Collagen	372	426	2.1e-9	PFAM
low complexity region	441	507	N/A	INTRINSIC
low complexity region	525	542	N/A	INTRINSIC
internal_repeat_1	546	569	5.41e-8	PROSPERO
internal_repeat_2	547	580	5.41e-8	PROSPERO
Pfam:Collagen	584	646	2.7e-10	PFAM
Pfam:Collagen	659	736	8.6e-8	PFAM
Pfam:Collagen	745	797	1.6e-7	PFAM
Pfam:Collagen	796	850	5.9e-10	PFAM
Pfam:Collagen	848	923	1.6e-7	PFAM
low complexity region	974	984	N/A	INTRINSIC
Pfam:Collagen	987	1045	1e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000143577

SMART Domains

Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690

Domain	Start	End	E-Value	Type
internal_repeat_7	1	43	5.7e-5	PROSPERO
Pfam:Collagen	57	112	2e-9	PFAM
low complexity region	126	192	N/A	INTRINSIC
low complexity region	210	227	N/A	INTRINSIC
internal_repeat_2	231	247	1.5e-10	PROSPERO
internal_repeat_1	232	265	5.16e-11	PROSPERO
Pfam:Collagen	269	331	3.4e-10	PFAM
Pfam:Collagen	360	421	7e-11	PFAM
Pfam:Collagen	430	482	1.9e-7	PFAM
Pfam:Collagen	481	535	7.8e-10	PFAM
Pfam:Collagen	560	623	1.4e-7	PFAM
internal_repeat_9	640	665	9.73e-5	PROSPERO
low complexity region	675	685	N/A	INTRINSIC
Pfam:Collagen	686	747	2.5e-11	PFAM
Pfam:Collagen	730	802	5.2e-9	PFAM
Pfam:Collagen	783	860	9.2e-9	PFAM
low complexity region	871	922	N/A	INTRINSIC
low complexity region	930	985	N/A	INTRINSIC
internal_repeat_2	986	1002	1.5e-10	PROSPERO
internal_repeat_5	990	1038	7.88e-7	PROSPERO
low complexity region	1041	1110	N/A	INTRINSIC
Pfam:Collagen	1149	1205	1.8e-10	PFAM
Pfam:Collagen	1203	1260	1.1e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000143577

SMART Domains

Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690

Domain	Start	End	E-Value	Type
internal_repeat_7	1	43	5.7e-5	PROSPERO
Pfam:Collagen	57	112	2e-9	PFAM
low complexity region	126	192	N/A	INTRINSIC
low complexity region	210	227	N/A	INTRINSIC
internal_repeat_2	231	247	1.5e-10	PROSPERO
internal_repeat_1	232	265	5.16e-11	PROSPERO
Pfam:Collagen	269	331	3.4e-10	PFAM
Pfam:Collagen	360	421	7e-11	PFAM
Pfam:Collagen	430	482	1.9e-7	PFAM
Pfam:Collagen	481	535	7.8e-10	PFAM
Pfam:Collagen	560	623	1.4e-7	PFAM
internal_repeat_9	640	665	9.73e-5	PROSPERO
low complexity region	675	685	N/A	INTRINSIC
Pfam:Collagen	686	747	2.5e-11	PFAM
Pfam:Collagen	730	802	5.2e-9	PFAM
Pfam:Collagen	783	860	9.2e-9	PFAM
low complexity region	871	922	N/A	INTRINSIC
low complexity region	930	985	N/A	INTRINSIC
internal_repeat_2	986	1002	1.5e-10	PROSPERO
internal_repeat_5	990	1038	7.88e-7	PROSPERO
low complexity region	1041	1110	N/A	INTRINSIC
Pfam:Collagen	1149	1205	1.8e-10	PFAM
Pfam:Collagen	1203	1260	1.1e-7	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416	E565D	probably benign	Het
Adam30	A	T	3: 98,162,113	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,749,852		probably null	Het
Cacna1a	A	T	8: 84,415,930	I96F	possibly damaging	Het
Card10	G	A	15: 78,780,514	R747W	probably damaging	Het
Cdh8	T	A	8: 99,190,394	D363V	probably damaging	Het
Cecr2	T	C	6: 120,757,941	Y685H	probably damaging	Het
Cmklr1	T	C	5: 113,614,407	T178A	probably damaging	Het
Col4a1	C	T	8: 11,226,439		probably benign	Het
Coro2a	T	A	4: 46,548,797	I166F	possibly damaging	Het
Cry2	T	C	2: 92,424,566	H148R	probably damaging	Het
Crygd	T	C	1: 65,061,974	Y154C	probably benign	Het
Cubn	T	C	2: 13,308,561	Y3066C	probably damaging	Het
Defb15	C	T	8: 21,929,986	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,697,398	D147G	probably benign	Het
Dnah12	A	T	14: 26,709,257	Y340F	probably benign	Het
Dot1l	G	T	10: 80,783,539	R193L	probably damaging	Het
Dupd1	A	G	14: 21,686,689	V115A	probably benign	Het
Esd	A	C	14: 74,742,074	Y119S	probably damaging	Het
Esp36	A	G	17: 38,419,439		probably benign	Het
Etfbkmt	T	A	6: 149,144,151	M1K	probably null	Het
Exph5	A	G	9: 53,376,248	H1543R	probably benign	Het
Fam92a	C	T	4: 12,155,717	V306I	possibly damaging	Het
Fbxo16	A	G	14: 65,270,803	T23A	probably damaging	Het
Gm11492	A	G	11: 87,567,235	H145R	possibly damaging	Het
Gm6614	T	C	6: 142,003,423	M76V	possibly damaging	Het
Gorasp2	C	A	2: 70,679,464	H136Q	probably damaging	Het
Hdc	T	A	2: 126,597,933	I367F	probably benign	Het
Hmcn1	C	T	1: 150,638,900	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,584,124	D592G	probably benign	Het
Inmt	G	A	6: 55,174,883	A34V	probably damaging	Het
Ints9	A	C	14: 65,026,413	H378P	probably benign	Het
Kcnh7	T	A	2: 62,787,754	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,425,330	V259D	probably damaging	Het
Lipo1	A	G	19: 33,784,692	F135S	probably damaging	Het
Lrba	T	C	3: 86,773,203		probably null	Het
Mapk1	T	A	16: 17,026,429	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,444,921	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,459,969	P554L	probably damaging	Het
Mki67	T	C	7: 135,699,361	T1315A	probably benign	Het
Mprip	C	T	11: 59,758,221	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,185,988	I688F	probably benign	Het
Myo1d	A	T	11: 80,663,048	Y536N	probably damaging	Het
Neb	C	T	2: 52,162,187		probably null	Het
Noc2l	A	G	4: 156,237,708	R161G	probably benign	Het
Nup54	T	A	5: 92,419,567	I375L	possibly damaging	Het
Nup93	T	C	8: 94,306,102	F539L	probably damaging	Het
Olfr138	A	G	17: 38,275,344	E191G	probably damaging	Het
Olfr417	T	A	1: 174,369,452	H178Q	probably damaging	Het
Olfr480	A	C	7: 108,066,725	Y24*	probably null	Het
Olfr874	T	A	9: 37,746,968	M278K	probably benign	Het
Panx1	A	T	9: 15,007,428	D378E	probably damaging	Het
Papss1	T	A	3: 131,583,184	V170D	possibly damaging	Het
Pcnx	T	C	12: 81,918,732	S558P	probably damaging	Het
Pde3a	T	A	6: 141,250,353	I255N	probably damaging	Het
Pde3a	G	T	6: 141,487,513	A757S	probably damaging	Het
Pdzph1	A	G	17: 58,922,583	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,551,020	R805S	probably benign	Het
Polr1a	G	A	6: 71,909,203	G14D	probably damaging	Het
Prg4	T	A	1: 150,460,669	D60V	probably damaging	Het
Ptprc	T	C	1: 138,112,227	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,842,209	R205K	probably benign	Het
Rcan2	A	T	17: 44,037,089		probably null	Het
Rock1	A	G	18: 10,079,207	I1087T	probably damaging	Het
Sectm1b	A	G	11: 121,054,942	I191T	possibly damaging	Het
Setd1b	T	C	5: 123,147,613	S241P	unknown	Het
Srpk2	T	C	5: 23,524,150	K497R	probably benign	Het
Sspo	T	C	6: 48,491,006	S4296P	probably damaging	Het
Syne4	T	C	7: 30,316,883	V168A	probably benign	Het
Tank	T	C	2: 61,649,912	F264S	probably damaging	Het
Ticrr	T	C	7: 79,695,207	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,411,198	V457A	probably damaging	Het
Trim43b	T	A	9: 89,085,571	K336N	probably damaging	Het
Trim47	T	C	11: 116,106,137	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,023	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607	S231P	probably benign	Het
Vit	A	G	17: 78,622,746	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,134,521	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 10,173,406	C131Y	possibly damaging	Het
Zadh2	T	C	18: 84,095,318	V373A	possibly damaging	Het
Zfp58	A	T	13: 67,491,188	F395I	probably damaging	Het
Zfp940	C	A	7: 29,845,010	G491C	probably damaging	Het

Other mutations in Col16a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Col16a1	APN	4	130094552	splice site	probably null
IGL00885:Col16a1	APN	4	130096910	missense	probably damaging	1.00
IGL01931:Col16a1	APN	4	130072841	missense	possibly damaging	0.47
IGL02142:Col16a1	APN	4	130051647	splice site	probably null
IGL02307:Col16a1	APN	4	130059009	missense	probably damaging	1.00
IGL02731:Col16a1	APN	4	130053530	unclassified	probably benign
IGL02742:Col16a1	APN	4	130061379	unclassified	probably benign
PIT4520001:Col16a1	UTSW	4	130051663	missense	unknown
R0127:Col16a1	UTSW	4	130052857	missense	probably damaging	1.00
R0131:Col16a1	UTSW	4	130067096	missense	unknown
R0131:Col16a1	UTSW	4	130067096	missense	unknown
R0132:Col16a1	UTSW	4	130067096	missense	unknown
R0299:Col16a1	UTSW	4	130058318	frame shift	probably null
R0355:Col16a1	UTSW	4	130058413	splice site	probably benign
R0395:Col16a1	UTSW	4	130073109	missense	probably damaging	1.00
R0485:Col16a1	UTSW	4	130090497	splice site	probably benign
R0573:Col16a1	UTSW	4	130068475	splice site	probably benign
R1274:Col16a1	UTSW	4	130097801	missense	probably damaging	0.98
R1619:Col16a1	UTSW	4	130098940	missense	probably damaging	1.00
R1759:Col16a1	UTSW	4	130084269	missense	probably damaging	1.00
R1832:Col16a1	UTSW	4	130077057	splice site	probably null
R1861:Col16a1	UTSW	4	130061724	unclassified	probably benign
R1981:Col16a1	UTSW	4	130065443	missense	unknown
R2265:Col16a1	UTSW	4	130052918	missense	probably benign	0.02
R2269:Col16a1	UTSW	4	130052918	missense	probably benign	0.02
R2291:Col16a1	UTSW	4	130067040	missense	unknown
R3176:Col16a1	UTSW	4	130057999	missense	probably damaging	0.99
R3276:Col16a1	UTSW	4	130057999	missense	probably damaging	0.99
R3552:Col16a1	UTSW	4	130077041	missense	probably benign	0.10
R4049:Col16a1	UTSW	4	130068752	missense	probably damaging	1.00
R4241:Col16a1	UTSW	4	130099050	missense	probably damaging	0.98
R4327:Col16a1	UTSW	4	130094551	critical splice donor site	probably null
R4591:Col16a1	UTSW	4	130061799	splice site	probably null
R4664:Col16a1	UTSW	4	130062090	unclassified	probably benign
R4803:Col16a1	UTSW	4	130055108	unclassified	probably benign
R4925:Col16a1	UTSW	4	130054176	missense	probably damaging	1.00
R4961:Col16a1	UTSW	4	130054479	splice site	probably null
R5016:Col16a1	UTSW	4	130079195	missense	probably benign	0.31
R5027:Col16a1	UTSW	4	130079195	missense	probably benign	0.31
R5085:Col16a1	UTSW	4	130054171	missense	probably damaging	1.00
R5088:Col16a1	UTSW	4	130079195	missense	probably benign	0.31
R5089:Col16a1	UTSW	4	130079195	missense	probably benign	0.31
R5408:Col16a1	UTSW	4	130093105	utr 3 prime	probably benign
R5472:Col16a1	UTSW	4	130092771	utr 3 prime	probably benign
R5564:Col16a1	UTSW	4	130053358	missense	probably damaging	1.00
R5597:Col16a1	UTSW	4	130058304	missense	probably damaging	1.00
R5703:Col16a1	UTSW	4	130053299	missense	probably damaging	0.96
R6054:Col16a1	UTSW	4	130061722	unclassified	probably benign
R6226:Col16a1	UTSW	4	130055089	unclassified	probably benign
R6362:Col16a1	UTSW	4	130066190	missense	unknown
R6448:Col16a1	UTSW	4	130058988	missense	probably damaging	1.00
R6449:Col16a1	UTSW	4	130066693	missense	unknown
R6502:Col16a1	UTSW	4	130055994	missense	probably damaging	1.00
R6949:Col16a1	UTSW	4	130059323	missense	probably damaging	1.00
R6969:Col16a1	UTSW	4	130093087	utr 3 prime	probably benign
R7086:Col16a1	UTSW	4	130052980	splice site	probably null
R7375:Col16a1	UTSW	4	130065501	missense	unknown
R7703:Col16a1	UTSW	4	130096502	missense	unknown
R7808:Col16a1	UTSW	4	130073264	missense	unknown
R7904:Col16a1	UTSW	4	130054208	nonsense	probably null
R7936:Col16a1	UTSW	4	130096871	critical splice acceptor site	probably null
R7981:Col16a1	UTSW	4	130086554	critical splice donor site	probably null
R8161:Col16a1	UTSW	4	130060469	missense	unknown
R8178:Col16a1	UTSW	4	130053477	missense	unknown
R8266:Col16a1	UTSW	4	130065431	missense	unknown
R8312:Col16a1	UTSW	4	130054451	missense	unknown
R8714:Col16a1	UTSW	4	130054168	missense	unknown
R9011:Col16a1	UTSW	4	130052859	missense	unknown
R9088:Col16a1	UTSW	4	130077223	missense	unknown
RF014:Col16a1	UTSW	4	130093067	critical splice acceptor site	probably benign
Z1176:Col16a1	UTSW	4	130072878	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCTGGTAGAAGTTCAAGTGTAAGATC -3'
(R):5'- AGGAACAGATGGCATGCCTG -3'

Sequencing Primer
(F):5'- TTTCAGGAGAAAAGAAAGCTAATGC -3'
(R):5'- GCATGCCTGTGCCTGTG -3'

Posted On

2014-06-23