Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00885:Col16a1'

27188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col16a1

Ensembl Gene

ENSMUSG00000040690

Gene Name

collagen, type XVI, alpha 1

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL00885

Quality Score

Status

Chromosome

Chromosomal Location

130047840-130099283 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 130096910 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 1419 (I1419S)

Ref Sequence

ENSEMBL: ENSMUSP00000035802 (fasta)

Gene Model

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

AlphaFold

Q8BLX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000044565
AA Change: I1419S

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

SMART Domains

Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690
AA Change: I1419S

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

unknown
Transcript: ENSMUST00000143577
AA Change: I1122S

SMART Domains

Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690
AA Change: I1122S

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf2	A	T	17: 42,714,315		probably benign	Het
Adora2a	T	G	10: 75,333,451	F250V	probably damaging	Het
Atp8b5	T	C	4: 43,355,567	S516P	probably damaging	Het
Btbd16	A	G	7: 130,788,822	I150V	probably damaging	Het
Capn13	A	T	17: 73,339,425	I331N	possibly damaging	Het
Capzb	A	G	4: 139,287,050	S233G	probably benign	Het
Clasp2	A	G	9: 113,911,416	R1171G	probably damaging	Het
Coro7	T	A	16: 4,635,026	Y286F	probably benign	Het
Crygd	C	T	1: 65,062,091	R115Q	probably benign	Het
Cyp11b2	T	C	15: 74,853,515	T252A	probably benign	Het
Daam1	T	A	12: 71,944,091	C160S	unknown	Het
Ephx4	T	C	5: 107,406,125		probably benign	Het
Fbxo47	A	T	11: 97,878,120	D63E	probably benign	Het
Fgf3	A	T	7: 144,840,784		probably benign	Het
Fstl4	C	T	11: 53,148,982	T331I	possibly damaging	Het
Gm597	T	C	1: 28,776,845	E702G	unknown	Het
Gpr158	T	C	2: 21,649,021	F467S	probably damaging	Het
Igfbpl1	C	T	4: 45,826,478	V106I	probably damaging	Het
Ikzf2	T	C	1: 69,539,322	T271A	possibly damaging	Het
Kat14	T	A	2: 144,394,255	N302K	probably benign	Het
Kmt2c	G	T	5: 25,409,171	Q184K	possibly damaging	Het
Moxd2	A	G	6: 40,884,179		probably benign	Het
Nbeal2	C	A	9: 110,638,661	E479D	probably damaging	Het
Neo1	A	G	9: 58,888,463	L1231P	probably damaging	Het
Nfatc3	C	T	8: 106,099,177	P620L	probably damaging	Het
Nol9	T	C	4: 152,041,600	F253L	probably damaging	Het
Nutm2	T	A	13: 50,474,860	S653R	probably benign	Het
Olfr138	A	C	17: 38,274,899	I43L	probably benign	Het
Olfr1504	A	T	19: 13,888,168	M14K	probably benign	Het
Plcg1	A	G	2: 160,758,083	D921G	probably benign	Het
Plpp4	A	T	7: 129,321,533	I101F	probably damaging	Het
Psg17	A	T	7: 18,820,166	L53Q	probably damaging	Het
Ptpn4	A	T	1: 119,802,363	I20N	possibly damaging	Het
R3hdm1	A	T	1: 128,236,438	I1030L	probably damaging	Het
Rpl7	A	C	1: 16,102,583	S171A	possibly damaging	Het
Snx25	G	A	8: 46,038,476	T859M	probably damaging	Het
Tmem94	A	G	11: 115,795,328	M990V	probably damaging	Het
Tnnt2	A	G	1: 135,846,764		probably benign	Het
Ttn	T	C	2: 76,709,685	H34319R	possibly damaging	Het
Vmn1r72	A	G	7: 11,670,497	V8A	probably benign	Het
Zbtb41	A	G	1: 139,430,324	T457A	probably benign	Het

Other mutations in Col16a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Col16a1	APN	4	130094552	splice site	probably null
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
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

Posted On

2013-04-17