Mutagenetix > Incidental Mutation

Incidental Mutation 'R6448:Col16a1'

519247

Institutional Source

Beutler Lab

Gene Symbol

Col16a1

Ensembl Gene

ENSMUSG00000040690

Gene Name

collagen, type XVI, alpha 1

Synonyms

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

MMRRC Submission

044584-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R6448 (G1)

Quality Score

193.009

Status

Validated

Chromosome

Chromosomal Location

129941638-129993070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 129952781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 409 (L409R)

Ref Sequence

ENSEMBL: ENSMUSP00000120384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044565] [ENSMUST00000123617] [ENSMUST00000143432] [ENSMUST00000143577]

AlphaFold

Q8BLX7

Predicted Effect

unknown
Transcript: ENSMUST00000044565
AA Change: L409R

SMART Domains

Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690
AA Change: L409R

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

probably benign
Transcript: ENSMUST00000123617

SMART Domains

Protein: ENSMUSP00000121415
Gene: ENSMUSG00000040690

Domain	Start	End	E-Value	Type
Pfam:Collagen	60	97	1.2e-7	PFAM
low complexity region	117	127	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000143432
AA Change: L409R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120384
Gene: ENSMUSG00000040690
AA Change: L409R

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: L94R

SMART Domains

Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690
AA Change: L94R

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: ENSMUST00000154441

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (32/33)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap5	A	T	12: 52,564,446 (GRCm39)	K472N	probably benign	Het
C2	T	G	17: 35,082,335 (GRCm39)	D298A	possibly damaging	Het
Dlgap1	A	G	17: 70,900,325 (GRCm39)	E380G	possibly damaging	Het
Fam111a	C	A	19: 12,565,701 (GRCm39)	H483Q	probably benign	Het
Fancc	C	T	13: 63,488,242 (GRCm39)	R246Q	probably damaging	Het
Glb1	A	T	9: 114,263,499 (GRCm39)	Q256L	probably damaging	Het
Gm9195	A	T	14: 72,671,451 (GRCm39)	D2611E	possibly damaging	Het
Gsto1	C	T	19: 47,846,420 (GRCm39)	T89I	probably benign	Het
Hmcn2	A	G	2: 31,310,832 (GRCm39)	S3359G	probably benign	Het
Hook3	T	A	8: 26,583,692 (GRCm39)	N87I	probably benign	Het
Htt	T	A	5: 35,033,336 (GRCm39)	M1868K	probably benign	Het
Ighv1-19	T	C	12: 114,672,296 (GRCm39)	E107G	probably damaging	Het
Il20rb	A	T	9: 100,356,986 (GRCm39)	M48K	probably benign	Het
Inpp5j	T	C	11: 3,445,387 (GRCm39)	H822R	probably damaging	Het
Kif14	G	T	1: 136,431,085 (GRCm39)	V1161F	probably damaging	Het
Klhdc2	T	A	12: 69,350,694 (GRCm39)	D169E	probably benign	Het
Ly75	A	G	2: 60,129,389 (GRCm39)		probably null	Het
Myh15	T	G	16: 48,992,295 (GRCm39)	S1590A	probably damaging	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Neb	T	C	2: 52,038,826 (GRCm39)	D6748G	probably damaging	Het
Nfrkb	T	C	9: 31,306,085 (GRCm39)	Y142H	probably damaging	Het
Or6c208	A	T	10: 129,224,021 (GRCm39)	D173V	probably damaging	Het
Or7a39	G	A	10: 78,715,516 (GRCm39)	C170Y	possibly damaging	Het
Or8k20	T	A	2: 86,106,691 (GRCm39)	I47F	probably benign	Het
Prm2	G	A	16: 10,609,825 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,766,446 (GRCm39)	T1283A	probably benign	Het
Rest	T	C	5: 77,429,318 (GRCm39)	L579P	possibly damaging	Het
Slc6a1	C	T	6: 114,279,047 (GRCm39)	T46I	possibly damaging	Het
Tcf20	A	G	15: 82,736,861 (GRCm39)	I1530T	probably benign	Het
Tox	T	G	4: 6,822,975 (GRCm39)	D114A	probably benign	Het
Ulk4	C	T	9: 120,932,696 (GRCm39)	G1048D	probably damaging	Het

Other mutations in Col16a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00501:Col16a1	APN	4	129,988,345 (GRCm39)	splice site	probably null
IGL00885:Col16a1	APN	4	129,990,703 (GRCm39)	missense	probably damaging	1.00
IGL01931:Col16a1	APN	4	129,966,634 (GRCm39)	missense	possibly damaging	0.47
IGL02142:Col16a1	APN	4	129,945,440 (GRCm39)	splice site	probably null
IGL02307:Col16a1	APN	4	129,952,802 (GRCm39)	missense	probably damaging	1.00
IGL02731:Col16a1	APN	4	129,947,323 (GRCm39)	unclassified	probably benign
IGL02742:Col16a1	APN	4	129,955,172 (GRCm39)	unclassified	probably benign
PIT4520001:Col16a1	UTSW	4	129,945,456 (GRCm39)	missense	unknown
R0127:Col16a1	UTSW	4	129,946,650 (GRCm39)	missense	probably damaging	1.00
R0131:Col16a1	UTSW	4	129,960,889 (GRCm39)	missense	unknown
R0131:Col16a1	UTSW	4	129,960,889 (GRCm39)	missense	unknown
R0132:Col16a1	UTSW	4	129,960,889 (GRCm39)	missense	unknown
R0299:Col16a1	UTSW	4	129,952,111 (GRCm39)	frame shift	probably null
R0355:Col16a1	UTSW	4	129,952,206 (GRCm39)	splice site	probably benign
R0395:Col16a1	UTSW	4	129,966,902 (GRCm39)	missense	probably damaging	1.00
R0485:Col16a1	UTSW	4	129,984,290 (GRCm39)	splice site	probably benign
R0573:Col16a1	UTSW	4	129,962,268 (GRCm39)	splice site	probably benign
R1274:Col16a1	UTSW	4	129,991,594 (GRCm39)	missense	probably damaging	0.98
R1619:Col16a1	UTSW	4	129,992,733 (GRCm39)	missense	probably damaging	1.00
R1759:Col16a1	UTSW	4	129,978,062 (GRCm39)	missense	probably damaging	1.00
R1832:Col16a1	UTSW	4	129,970,850 (GRCm39)	splice site	probably null
R1861:Col16a1	UTSW	4	129,955,517 (GRCm39)	unclassified	probably benign
R1862:Col16a1	UTSW	4	129,986,575 (GRCm39)	critical splice donor site	probably null
R1981:Col16a1	UTSW	4	129,959,236 (GRCm39)	missense	unknown
R2265:Col16a1	UTSW	4	129,946,711 (GRCm39)	missense	probably benign	0.02
R2269:Col16a1	UTSW	4	129,946,711 (GRCm39)	missense	probably benign	0.02
R2291:Col16a1	UTSW	4	129,960,833 (GRCm39)	missense	unknown
R3176:Col16a1	UTSW	4	129,951,792 (GRCm39)	missense	probably damaging	0.99
R3276:Col16a1	UTSW	4	129,951,792 (GRCm39)	missense	probably damaging	0.99
R3552:Col16a1	UTSW	4	129,970,834 (GRCm39)	missense	probably benign	0.10
R4049:Col16a1	UTSW	4	129,962,545 (GRCm39)	missense	probably damaging	1.00
R4241:Col16a1	UTSW	4	129,992,843 (GRCm39)	missense	probably damaging	0.98
R4327:Col16a1	UTSW	4	129,988,344 (GRCm39)	critical splice donor site	probably null
R4591:Col16a1	UTSW	4	129,955,592 (GRCm39)	splice site	probably null
R4664:Col16a1	UTSW	4	129,955,883 (GRCm39)	unclassified	probably benign
R4803:Col16a1	UTSW	4	129,948,901 (GRCm39)	unclassified	probably benign
R4925:Col16a1	UTSW	4	129,947,969 (GRCm39)	missense	probably damaging	1.00
R4961:Col16a1	UTSW	4	129,948,272 (GRCm39)	splice site	probably null
R5016:Col16a1	UTSW	4	129,972,988 (GRCm39)	missense	probably benign	0.31
R5027:Col16a1	UTSW	4	129,972,988 (GRCm39)	missense	probably benign	0.31
R5085:Col16a1	UTSW	4	129,947,964 (GRCm39)	missense	probably damaging	1.00
R5088:Col16a1	UTSW	4	129,972,988 (GRCm39)	missense	probably benign	0.31
R5089:Col16a1	UTSW	4	129,972,988 (GRCm39)	missense	probably benign	0.31
R5408:Col16a1	UTSW	4	129,986,898 (GRCm39)	utr 3 prime	probably benign
R5472:Col16a1	UTSW	4	129,986,564 (GRCm39)	utr 3 prime	probably benign
R5564:Col16a1	UTSW	4	129,947,151 (GRCm39)	missense	probably damaging	1.00
R5597:Col16a1	UTSW	4	129,952,097 (GRCm39)	missense	probably damaging	1.00
R5703:Col16a1	UTSW	4	129,947,092 (GRCm39)	missense	probably damaging	0.96
R6054:Col16a1	UTSW	4	129,955,515 (GRCm39)	unclassified	probably benign
R6226:Col16a1	UTSW	4	129,948,882 (GRCm39)	unclassified	probably benign
R6362:Col16a1	UTSW	4	129,959,983 (GRCm39)	missense	unknown
R6449:Col16a1	UTSW	4	129,960,486 (GRCm39)	missense	unknown
R6502:Col16a1	UTSW	4	129,949,787 (GRCm39)	missense	probably damaging	1.00
R6949:Col16a1	UTSW	4	129,953,116 (GRCm39)	missense	probably damaging	1.00
R6969:Col16a1	UTSW	4	129,986,880 (GRCm39)	utr 3 prime	probably benign
R7086:Col16a1	UTSW	4	129,946,773 (GRCm39)	splice site	probably null
R7375:Col16a1	UTSW	4	129,959,294 (GRCm39)	missense	unknown
R7703:Col16a1	UTSW	4	129,990,295 (GRCm39)	missense	unknown
R7808:Col16a1	UTSW	4	129,967,057 (GRCm39)	missense	unknown
R7904:Col16a1	UTSW	4	129,948,001 (GRCm39)	nonsense	probably null
R7936:Col16a1	UTSW	4	129,990,664 (GRCm39)	critical splice acceptor site	probably null
R7981:Col16a1	UTSW	4	129,980,347 (GRCm39)	critical splice donor site	probably null
R8161:Col16a1	UTSW	4	129,954,262 (GRCm39)	missense	unknown
R8178:Col16a1	UTSW	4	129,947,270 (GRCm39)	missense	unknown
R8266:Col16a1	UTSW	4	129,959,224 (GRCm39)	missense	unknown
R8312:Col16a1	UTSW	4	129,948,244 (GRCm39)	missense	unknown
R8714:Col16a1	UTSW	4	129,947,961 (GRCm39)	missense	unknown
R9011:Col16a1	UTSW	4	129,946,652 (GRCm39)	missense	unknown
R9088:Col16a1	UTSW	4	129,971,016 (GRCm39)	missense	unknown
RF014:Col16a1	UTSW	4	129,986,860 (GRCm39)	critical splice acceptor site	probably benign
Z1176:Col16a1	UTSW	4	129,966,671 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTCGAATGAGAGGTCCAGC -3'
(R):5'- AATGTCAAAGGGCGGGGTTC -3'

Sequencing Primer
(F):5'- CCAGCTGGCTTGGAAGTTC -3'
(R):5'- TCAAAGGGCGGGGTTCAGTATC -3'

Posted On

2018-05-24