Mutagenetix > Incidental Mutation

Incidental Mutation 'R0131:Col16a1'

500119

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

038416-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129941638-129993070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129960889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 449 (V449E)

Ref Sequence

ENSEMBL: ENSMUSP00000120339 (fasta)

Gene Model

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

AlphaFold

Q8BLX7

Predicted Effect

unknown
Transcript: ENSMUST00000044565
AA Change: V764E

SMART Domains

Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690
AA Change: V764E

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

unknown
Transcript: ENSMUST00000143432
AA Change: V764E

SMART Domains

Protein: ENSMUSP00000120384
Gene: ENSMUSG00000040690
AA Change: V764E

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: V449E

SMART Domains

Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690
AA Change: V449E

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

Meta Mutation Damage Score

0.0716

Coding Region Coverage

1x: 98.8%
3x: 97.2%
10x: 90.2%
20x: 71.5%

Validation Efficiency

87% (52/60)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,833,115 (GRCm39)	Q1195L	possibly damaging	Het
Abcc12	A	G	8: 87,258,197 (GRCm39)	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,260,960 (GRCm39)	I1057N	possibly damaging	Het
Adgrv1	A	T	13: 81,651,114 (GRCm39)		probably benign	Het
Anxa5	G	A	3: 36,504,821 (GRCm39)	A247V	probably damaging	Het
Ascc3	T	G	10: 50,611,425 (GRCm39)	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,770,743 (GRCm39)	P389S	probably damaging	Het
Bicd1	A	G	6: 149,414,445 (GRCm39)	E386G	probably damaging	Het
Bmal2	C	A	6: 146,729,601 (GRCm39)	H471N	probably benign	Het
Bpifa6	T	A	2: 153,824,851 (GRCm39)	S9T	probably benign	Het
Cacna1c	T	C	6: 118,602,473 (GRCm39)	I1428V	probably damaging	Het
Cfhr4	T	A	1: 139,682,009 (GRCm39)	T196S	probably damaging	Het
Chd8	A	G	14: 52,442,783 (GRCm39)	V589A	probably benign	Het
Chrnb2	T	C	3: 89,671,713 (GRCm39)	M1V	probably null	Het
Cldnd1	T	C	16: 58,553,355 (GRCm39)	L232P	probably damaging	Het
Col3a1	T	A	1: 45,368,028 (GRCm39)		probably benign	Het
Cttnbp2nl	T	G	3: 104,913,173 (GRCm39)	K237T	probably damaging	Het
Cyc1	G	A	15: 76,229,159 (GRCm39)	V142I	probably benign	Het
Dapk3	A	G	10: 81,028,141 (GRCm39)	T265A	probably benign	Het
Ddx21	A	T	10: 62,420,531 (GRCm39)	M711K	possibly damaging	Het
Dlg5	A	T	14: 24,188,717 (GRCm39)	L1735Q	probably damaging	Het
Dse	A	G	10: 34,029,660 (GRCm39)	Y341H	probably damaging	Het
Elmod2	A	G	8: 84,046,133 (GRCm39)	I148T	probably damaging	Het
Fam187b	T	A	7: 30,688,545 (GRCm39)	V22E	probably damaging	Het
Faxc	A	G	4: 21,936,659 (GRCm39)	D98G	probably damaging	Het
Fcgbpl1	A	G	7: 27,837,040 (GRCm39)	R320G	probably damaging	Het
Fcrl2	A	G	3: 87,166,266 (GRCm39)	S170P	possibly damaging	Het
Fsip2	G	A	2: 82,821,465 (GRCm39)	D5733N	probably benign	Het
Gbe1	T	C	16: 70,157,740 (GRCm39)		probably benign	Het
Gm6327	T	C	16: 12,578,909 (GRCm39)		noncoding transcript	Het
H2-T24	T	A	17: 36,325,878 (GRCm39)	I238F	probably damaging	Het
Hectd4	A	G	5: 121,471,087 (GRCm39)	E2658G	probably benign	Het
Herc1	A	C	9: 66,388,192 (GRCm39)	I3826L	probably benign	Het
Hinfp	A	G	9: 44,211,060 (GRCm39)	C67R	probably damaging	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Hspg2	T	C	4: 137,279,198 (GRCm39)	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,747,091 (GRCm39)	V67A	probably damaging	Het
Idi2l	T	A	13: 8,990,563 (GRCm39)		probably benign	Het
Iqcc	T	G	4: 129,510,392 (GRCm39)	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,153,765 (GRCm39)	T120A	probably damaging	Het
Kitl	C	T	10: 99,923,226 (GRCm39)	P208S	probably benign	Het
Kmt2b	A	T	7: 30,283,346 (GRCm39)	C296S	probably damaging	Het
Lgals4	A	G	7: 28,533,657 (GRCm39)		probably null	Het
Lpcat4	A	G	2: 112,077,093 (GRCm39)	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,371,016 (GRCm39)	N227S	probably damaging	Het
Mdc1	T	A	17: 36,163,473 (GRCm39)	V1007D	probably damaging	Het
Mocos	T	G	18: 24,812,819 (GRCm39)	I571S	probably benign	Het
Myh8	A	G	11: 67,183,014 (GRCm39)	N659D	probably damaging	Het
Mylk	T	C	16: 34,695,874 (GRCm39)	V203A	probably benign	Het
Myom2	A	G	8: 15,133,329 (GRCm39)	N407S	probably damaging	Het
Naip2	A	G	13: 100,320,296 (GRCm39)	V240A	probably benign	Het
Nap1l1	T	C	10: 111,321,370 (GRCm39)	S37P	probably benign	Het
Nin	T	G	12: 70,097,915 (GRCm39)	K515T	probably damaging	Het
Npl	T	A	1: 153,384,864 (GRCm39)	K258*	probably null	Het
Ntn4	T	A	10: 93,480,569 (GRCm39)	S98T	possibly damaging	Het
Or10x1	T	C	1: 174,197,152 (GRCm39)	V223A	probably damaging	Het
Or2t6	T	C	14: 14,175,620 (GRCm38)	D154G	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5k14	C	A	16: 58,693,269 (GRCm39)	M81I	probably benign	Het
Or8u10	T	C	2: 85,915,844 (GRCm39)	I92M	probably damaging	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pate3	A	G	9: 35,557,453 (GRCm39)	C68R	probably damaging	Het
Pcdh15	A	G	10: 74,006,440 (GRCm39)	D106G	probably null	Het
Ppox	C	A	1: 171,106,849 (GRCm39)	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,531,517 (GRCm39)	L1380S	probably benign	Het
Proc	C	T	18: 32,268,951 (GRCm39)	M11I	probably benign	Het
Psd4	C	A	2: 24,295,363 (GRCm39)	A839E	probably damaging	Het
Psg21	A	G	7: 18,388,793 (GRCm39)	Y100H	probably benign	Het
Pten	T	A	19: 32,753,469 (GRCm39)	V45E	probably benign	Het
Ptprn2	T	G	12: 116,685,711 (GRCm39)	F57V	probably damaging	Het
Ptprt	C	T	2: 162,120,030 (GRCm39)	V146I	probably benign	Het
R3hdm2	T	A	10: 127,334,322 (GRCm39)	M915K	probably damaging	Het
Rab26	C	T	17: 24,749,759 (GRCm39)		probably null	Het
Rab7b	T	C	1: 131,626,293 (GRCm39)	L107P	probably damaging	Het
Rbm47	T	A	5: 66,183,872 (GRCm39)	T244S	possibly damaging	Het
Rhbdf2	C	A	11: 116,496,170 (GRCm39)	G122C	probably damaging	Het
Rnf213	A	G	11: 119,321,187 (GRCm39)	E1215G	probably benign	Het
Rprd2	T	C	3: 95,681,673 (GRCm39)	K407E	probably damaging	Het
Siah3	G	A	14: 75,693,574 (GRCm39)	V27I	possibly damaging	Het
Slc12a3	G	A	8: 95,067,511 (GRCm39)		probably benign	Het
Slc14a2	T	A	18: 78,235,338 (GRCm39)	N280Y	probably damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,862,786 (GRCm39)	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Slc35d1	C	T	4: 103,065,378 (GRCm39)	V189I	probably benign	Het
Spg11	T	C	2: 121,901,449 (GRCm39)	E1497G	probably damaging	Het
Srrm1	G	A	4: 135,067,884 (GRCm39)	R322*	probably null	Het
Stac3	A	T	10: 127,339,519 (GRCm39)	R138S	probably damaging	Het
Tet3	C	G	6: 83,345,770 (GRCm39)	G1556R	probably damaging	Het
Tgfbr3	A	G	5: 107,280,682 (GRCm39)	S693P	probably benign	Het
Tmcc2	C	T	1: 132,308,444 (GRCm39)	G150D	probably benign	Het
Tmem216	T	C	19: 10,531,970 (GRCm39)	Y44C	probably damaging	Het
Tmem260	T	A	14: 48,720,779 (GRCm39)	C306*	probably null	Het
Tspyl1	A	G	10: 34,159,085 (GRCm39)	N270S	probably damaging	Het
Ubr4	A	G	4: 139,191,362 (GRCm39)	T4127A	possibly damaging	Het
Ugt2a2	T	A	5: 87,622,720 (GRCm39)	K293*	probably null	Het
Vmn2r102	A	C	17: 19,899,025 (GRCm39)	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,932,511 (GRCm39)	S139R	probably benign	Het
Wrnip1	G	A	13: 32,990,847 (GRCm39)	V369I	probably damaging	Het
Zc3h12c	T	A	9: 52,037,923 (GRCm39)	I305F	possibly damaging	Het
Zmym2	A	G	14: 57,180,715 (GRCm39)	N876D	probably benign	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
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
R6448:Col16a1	UTSW	4	129,952,781 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2017-12-01