Mutagenetix > Incidental Mutations

Incidental Mutation 'R7808:Col16a1'

600920

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7808 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130047840-130099283 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130073264 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 909 (P909S)

Ref Sequence

ENSEMBL: ENSMUSP00000035802 (fasta)

Gene Model

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

AlphaFold

Q8BLX7

Predicted Effect

unknown
Transcript: ENSMUST00000044565
AA Change: P909S

SMART Domains

Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690
AA Change: P909S

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

unknown
Transcript: ENSMUST00000143432
AA Change: P893S

SMART Domains

Protein: ENSMUSP00000120384
Gene: ENSMUSG00000040690
AA Change: P893S

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 damaging
Transcript: ENSMUST00000143577
AA Change: P594S

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

SMART Domains

Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690
AA Change: P594S

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

Meta Mutation Damage Score

0.0987

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (86/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	T	C	2: 91,444,594		probably benign	Het
1700113H08Rik	T	C	10: 87,121,435	V11A	probably benign	Het
Abca12	A	T	1: 71,274,634		probably null	Het
Abcc12	T	A	8: 86,507,939	M1232L	probably benign	Het
Adamts1	T	C	16: 85,800,229	Y314C	probably damaging	Het
Adgb	A	G	10: 10,378,659		probably null	Het
Ankrd12	T	A	17: 65,985,653	K928N	possibly damaging	Het
Ano5	A	T	7: 51,587,795	K789I	possibly damaging	Het
Cacna1d	G	T	14: 30,111,069	N938K	probably damaging	Het
Camk1g	T	C	1: 193,350,285	R273G	possibly damaging	Het
Caprin2	C	A	6: 148,843,030	V966F	probably damaging	Het
Card6	T	C	15: 5,099,472	H814R	probably benign	Het
Ccdc84	T	C	9: 44,412,918	Q228R	probably null	Het
Cflar	A	G	1: 58,711,581		probably benign	Het
Cftr	T	A	6: 18,204,205	N66K	probably benign	Het
Clasrp	C	T	7: 19,588,746		probably null	Het
Clec4a4	T	C	6: 122,990,380	I5T	probably damaging	Het
Cmtr2	T	C	8: 110,221,619	I187T	possibly damaging	Het
Cnga1	A	T	5: 72,604,273	F633I	possibly damaging	Het
Csf1	C	A	3: 107,760,045	A7S	possibly damaging	Het
Dhx30	A	T	9: 110,086,202	V833D	probably benign	Het
Dlg2	T	G	7: 92,431,055	I712M	probably benign	Het
Dmxl1	T	A	18: 49,878,315	F1180I	probably benign	Het
Dnah9	T	A	11: 66,005,805	K2398*	probably null	Het
Dus1l	C	T	11: 120,789,436	G471D	possibly damaging	Het
Dync1h1	A	T	12: 110,655,459	N3412I	possibly damaging	Het
Dync1i2	T	A	2: 71,250,834		probably null	Het
Dysf	T	C	6: 84,070,929	S333P	possibly damaging	Het
Eed	A	T	7: 89,956,333	N349K	probably benign	Het
Eipr1	A	T	12: 28,766,770		probably null	Het
Fam160a2	G	A	7: 105,384,525	R509C	probably damaging	Het
Fbxw16	A	C	9: 109,448,154	V40G	probably damaging	Het
Fgfr4	A	C	13: 55,161,156	R363S	possibly damaging	Het
Fgl2	A	T	5: 21,373,231	N172I	possibly damaging	Het
Gabbr2	T	A	4: 46,875,744	H126L	possibly damaging	Het
Gcnt2	A	T	13: 40,860,862	N170Y	possibly damaging	Het
Gpt	A	G	15: 76,698,893		probably null	Het
Igsf10	A	G	3: 59,328,068	I1564T	probably benign	Het
Il22ra1	C	A	4: 135,750,796	Q393K	possibly damaging	Het
Inpp5d	A	T	1: 87,683,845	K340*	probably null	Het
Jcad	A	G	18: 4,673,113	K292E	probably damaging	Het
Krt5	T	A	15: 101,709,018	T427S	probably benign	Het
Krt76	T	C	15: 101,890,494	D252G	probably damaging	Het
Krtap26-1	A	G	16: 88,647,310	V141A	not run	Het
Lce6a	A	T	3: 92,620,335	V55D	probably benign	Het
Lpxn	C	T	19: 12,824,821	S170F	possibly damaging	Het
Magi2	T	C	5: 20,465,840	V394A	probably benign	Het
Mbnl1	G	A	3: 60,614,821		probably null	Het
Med16	T	A	10: 79,898,418	K554M	probably damaging	Het
Mettl14	T	C	3: 123,372,585	D276G	possibly damaging	Het
Mphosph9	T	C	5: 124,260,946	D1002G	probably damaging	Het
Mroh9	T	C	1: 163,039,109	E686G	probably damaging	Het
Nav1	T	C	1: 135,452,248	Y1512C	unknown	Het
Neb	T	C	2: 52,192,023	Y5712C	probably damaging	Het
Nek7	T	A	1: 138,561,771		probably benign	Het
Nptx1	T	A	11: 119,544,636	I285F	probably damaging	Het
Oas1d	G	T	5: 120,914,971	E30*	probably null	Het
Olfr404-ps1	A	T	11: 74,239,899	I112F	probably damaging	Het
Olfr429	C	A	1: 174,089,851	Y270*	probably null	Het
Olfr577	A	G	7: 102,973,110	V294A	possibly damaging	Het
Parp4	T	G	14: 56,635,748	S1150A	possibly damaging	Het
Pinx1	A	T	14: 63,919,292	K223*	probably null	Het
Plekha5	T	C	6: 140,583,914	L1034S	probably damaging	Het
Ppp4r3a	A	G	12: 101,053,496	V400A	possibly damaging	Het
Prtg	A	T	9: 72,842,697	I128F	possibly damaging	Het
Rars	T	C	11: 35,828,707	E96G	probably benign	Het
Rhpn1	T	A	15: 75,713,450	S551T	probably benign	Het
Selenow	C	T	7: 15,922,251		probably null	Het
Serpina9	A	T	12: 104,001,225		probably null	Het
Shank3	A	T	15: 89,548,880	D1276V	probably damaging	Het
Slc17a2	A	C	13: 23,819,334	H285P	probably damaging	Het
Slc27a6	A	G	18: 58,609,195	T494A	probably damaging	Het
Slc6a21	A	C	7: 45,282,936	T54P		Het
Syne2	A	G	12: 75,983,727		probably null	Het
Tal1	T	C	4: 115,068,292	V186A	probably benign	Het
Tarsl2	A	G	7: 65,652,261	K178E	probably benign	Het
Tex10	T	A	4: 48,459,984	I456L	probably benign	Het
Tfcp2	A	G	15: 100,522,429	F175S	probably damaging	Het
Timp2	C	T	11: 118,303,800	A188T	probably damaging	Het
Tmc5	T	A	7: 118,669,217	I836N	probably damaging	Het
Tmem100	T	A	11: 90,035,476	M43K	probably benign	Het
Ulk2	A	G	11: 61,854,552	Y9H	probably damaging	Het
Usp7	T	C	16: 8,705,163	K311E	probably damaging	Het
Vmn1r238	G	A	18: 3,123,033	T127I	probably benign	Het
Vmn2r28	T	C	7: 5,493,679	Y58C	probably damaging	Het
Wdr55	G	A	18: 36,760,416	G44S	probably benign	Het
Zfp677	C	A	17: 21,397,385	H235N	probably damaging	Het
Zfp869	T	A	8: 69,706,986	R312S	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
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
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'- AGGTTTTGTGTCCCAGCCAG -3'
(R):5'- AAACGAGGGATCTGTGAGCC -3'

Sequencing Primer
(F):5'- GGTGTAGACGTTTGCCTATAACCTC -3'
(R):5'- AACTGCTTGGTTCCTGTC -3'

Posted On

2019-11-26