Mutagenetix > Incidental Mutation

Incidental Mutation 'R1832:Col16a1'

204853

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

039859-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1832 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130047840-130099283 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 130077057 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: ENSMUST00000106001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129937

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151541

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.7%

Validation Efficiency

100% (82/82)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,556,860	D143V	unknown	Het
Abca8a	A	T	11: 110,071,451	N525K	probably damaging	Het
Abhd12	T	A	2: 150,848,418	D119V	probably damaging	Het
Adamts20	A	T	15: 94,286,344	M1526K	probably benign	Het
AI481877	T	G	4: 59,066,441	I768L	probably benign	Het
Ankdd1a	A	T	9: 65,504,489		probably null	Het
Ankrd1	C	T	19: 36,114,978	C283Y	possibly damaging	Het
Arfgef1	G	C	1: 10,204,890	I312M	probably benign	Het
Bhlhe22	G	A	3: 18,054,975	C63Y	probably damaging	Het
Bmp8a	A	T	4: 123,325,092		probably benign	Het
Ccdc148	A	T	2: 59,001,899	S235T	probably damaging	Het
Ccdc88b	G	A	19: 6,853,532	Q681*	probably null	Het
Cep104	T	A	4: 154,002,546	V842E	probably benign	Het
Chac2	T	C	11: 30,977,568	N117S	probably benign	Het
Cldn8	T	A	16: 88,562,858	I60F	probably benign	Het
Col4a1	A	G	8: 11,214,644		probably benign	Het
Cyp2a4	G	T	7: 26,312,210	E285D	probably damaging	Het
Cyp4a31	G	A	4: 115,569,731	G176D	probably benign	Het
Dmxl2	A	C	9: 54,460,949	Y246D	probably damaging	Het
Dync1h1	A	G	12: 110,614,059	K118R	probably damaging	Het
Eif3h	T	C	15: 51,865,436	T8A	possibly damaging	Het
Fam71d	G	A	12: 78,715,506		probably benign	Het
Fbxo18	G	T	2: 11,767,400	L157I	probably benign	Het
Fbxo40	C	A	16: 36,968,856	G631*	probably null	Het
Gabrb1	T	A	5: 72,121,938		probably null	Het
Galc	A	G	12: 98,234,240		probably null	Het
Gm10436	T	C	12: 88,178,448	E44G	possibly damaging	Het
H2-Q7	C	A	17: 35,439,699	S104R	probably benign	Het
Igkv13-54-1	A	T	6: 69,617,293	M31L	probably benign	Het
Lamc2	C	T	1: 153,166,187	R67Q	possibly damaging	Het
Lcn10	A	G	2: 25,685,139	D173G	probably damaging	Het
Llgl2	G	T	11: 115,851,100	R656L	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrrc66	G	A	5: 73,607,426	S758L	possibly damaging	Het
Ly6d	T	C	15: 74,762,766	K46E	probably damaging	Het
Map3k5	A	G	10: 20,099,560	N88D	probably damaging	Het
Mertk	A	T	2: 128,762,212	E422V	probably benign	Het
Mixl1	A	G	1: 180,694,731	V195A	probably benign	Het
Nmnat3	T	C	9: 98,399,468	V41A	probably damaging	Het
Olfr13	A	G	6: 43,174,900	R305G	probably benign	Het
Olfr398	A	T	11: 73,984,493	N38K	probably damaging	Het
Olfr854	A	G	9: 19,567,196	Y63H	possibly damaging	Het
Pappa2	T	A	1: 158,857,316	E751V	probably damaging	Het
Pcsk2	A	G	2: 143,793,269	S355G	probably damaging	Het
Pdzd2	A	G	15: 12,390,048	V821A	probably damaging	Het
Pifo	C	T	3: 106,014,596	E4K	possibly damaging	Het
Plxna4	A	C	6: 32,197,826	D1109E	probably benign	Het
Ppard	A	G	17: 28,297,110	M103V	probably benign	Het
Ralgapa1	T	C	12: 55,757,967	T515A	probably benign	Het
Rin2	A	G	2: 145,861,171	I596V	possibly damaging	Het
Rnls	A	G	19: 33,168,495	S75P	possibly damaging	Het
Rsph10b	A	T	5: 143,967,179	Y236F	possibly damaging	Het
Runx1t1	C	T	4: 13,835,628		probably benign	Het
Sardh	A	G	2: 27,235,569	V311A	possibly damaging	Het
Sbno2	G	T	10: 80,060,605	Y889*	probably null	Het
Sclt1	A	G	3: 41,727,111	V91A	probably damaging	Het
Sema4g	T	A	19: 44,999,017	V534E	probably benign	Het
Slc10a1	G	A	12: 80,953,672	S351F	probably benign	Het
Slc19a3	A	T	1: 83,022,747	V183E	probably damaging	Het
Slc25a12	A	G	2: 71,333,710	Y74H	possibly damaging	Het
Slc6a19	T	A	13: 73,692,950	I114L	probably benign	Het
Smpd2	A	T	10: 41,488,236	C189S	probably benign	Het
Spon1	T	A	7: 114,016,785	V295D	probably benign	Het
Tet3	A	G	6: 83,403,645	S514P	probably benign	Het
Tnk1	T	C	11: 69,856,928	I49M	probably damaging	Het
Trim80	A	G	11: 115,446,793	T431A	probably benign	Het
Vgf	A	T	5: 137,031,299	Q105L	possibly damaging	Het
Vmn1r37	G	T	6: 66,731,796	L135F	probably benign	Het
Vps37d	C	T	5: 135,073,740	A128T	possibly damaging	Het
Wdr60	T	A	12: 116,207,743	S958C	probably damaging	Het
Wwp1	T	C	4: 19,650,197	D323G	probably benign	Het
Zfp456	T	A	13: 67,367,363	I75L	probably benign	Het
Zfp990	A	G	4: 145,538,210	I593V	possibly 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
R1861:Col16a1	UTSW	4	130061724	unclassified	probably benign
R1862:Col16a1	UTSW	4	130092782	critical splice donor site	probably null
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'- AGAGTAGTCAGAGCTACCACC -3'
(R):5'- AATCCCGTTGGTGACACCTG -3'

Sequencing Primer
(F):5'- GTAGTCAGAGCTACCACCCATGC -3'
(R):5'- TCTCGATGGGTAAGGATCCC -3'

Posted On

2014-06-23