Mutagenetix > Incidental Mutation

Incidental Mutation 'R0395:Col16a1'

31924

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

038601-MU

Accession Numbers

Essential gene?

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

Stock #

R0395 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129941638-129993070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129966902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 583 (G583D)

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: G898D

SMART Domains

Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690
AA Change: G898D

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: 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 damaging
Transcript: ENSMUST00000143577
AA Change: G583D

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

SMART Domains

Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690
AA Change: G583D

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

0.8771

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.4%

Validation Efficiency

98% (103/105)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	C	13: 59,837,470 (GRCm39)	K205R	possibly damaging	Het
9630041A04Rik	A	T	9: 101,819,934 (GRCm39)	N118I	probably damaging	Het
AAdacl4fm3	A	G	4: 144,429,765 (GRCm39)	V408A	probably benign	Het
Acsm2	G	A	7: 119,174,969 (GRCm39)	D245N	probably damaging	Het
Adgrv1	A	T	13: 81,534,072 (GRCm39)	H5836Q	probably benign	Het
Ahcyl2	T	C	6: 29,886,167 (GRCm39)	V391A	probably damaging	Het
Alcam	A	T	16: 52,130,227 (GRCm39)	M41K	probably benign	Het
Aldh3b3	A	C	19: 4,016,472 (GRCm39)	E363D	probably benign	Het
Alk	A	G	17: 72,910,526 (GRCm39)	V60A	probably damaging	Het
Als2cl	G	A	9: 110,727,152 (GRCm39)	R906H	probably damaging	Het
Ap5z1	T	C	5: 142,456,317 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,393,156 (GRCm39)	I547N	probably benign	Het
Apol10b	A	T	15: 77,469,840 (GRCm39)	D112E	probably damaging	Het
Ash1l	C	A	3: 88,965,896 (GRCm39)	R2433S	probably damaging	Het
Cachd1	T	C	4: 100,810,402 (GRCm39)	F335L	probably damaging	Het
Cbfa2t3	G	T	8: 123,365,690 (GRCm39)	Q181K	probably benign	Het
Cct6b	A	G	11: 82,630,506 (GRCm39)	M265T	probably benign	Het
Cd151	G	A	7: 141,050,304 (GRCm39)	V180I	probably damaging	Het
Ces1h	T	A	8: 94,083,706 (GRCm39)	N412I	unknown	Het
Chmp7	T	C	14: 69,969,905 (GRCm39)	T12A	probably benign	Het
Clasp1	A	G	1: 118,467,061 (GRCm39)	T534A	possibly damaging	Het
Cldn15	T	A	5: 136,997,052 (GRCm39)	V31E	possibly damaging	Het
Csmd1	T	C	8: 16,396,652 (GRCm39)	N426S	probably damaging	Het
Dapp1	C	T	3: 137,641,398 (GRCm39)	C199Y	possibly damaging	Het
Dchs1	A	G	7: 105,407,745 (GRCm39)	L2029P	probably damaging	Het
Dmc1	A	G	15: 79,472,973 (GRCm39)	F158S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Dthd1	T	A	5: 62,971,676 (GRCm39)	N166K	possibly damaging	Het
Enam	A	T	5: 88,649,367 (GRCm39)	Y292F	probably damaging	Het
Esrrg	A	T	1: 187,930,832 (GRCm39)	I285F	probably damaging	Het
Fam50b	A	G	13: 34,931,220 (GRCm39)	D232G	probably damaging	Het
Fam91a1	T	A	15: 58,326,641 (GRCm39)	S792T	probably benign	Het
Fbxw22	A	C	9: 109,210,753 (GRCm39)	C419W	probably damaging	Het
Flt4	G	A	11: 49,521,170 (GRCm39)	S393N	probably benign	Het
Fras1	A	T	5: 96,917,512 (GRCm39)	T3511S	possibly damaging	Het
Frat2	A	C	19: 41,836,263 (GRCm39)	S30A	probably damaging	Het
Glp1r	T	A	17: 31,155,312 (GRCm39)	M433K	probably benign	Het
Gm10300	G	A	4: 131,802,299 (GRCm39)		probably benign	Het
Gpatch4	A	G	3: 87,961,661 (GRCm39)		probably benign	Het
Gpr22	A	T	12: 31,759,461 (GRCm39)	S220R	possibly damaging	Het
Grn	T	C	11: 102,327,049 (GRCm39)	V549A	probably benign	Het
Gtf3c5	T	C	2: 28,467,930 (GRCm39)	D177G	probably damaging	Het
Htr1b	A	T	9: 81,513,704 (GRCm39)	M301K	probably benign	Het
Ifi207	A	T	1: 173,557,431 (GRCm39)	S436T	possibly damaging	Het
Ifnb1	A	T	4: 88,440,766 (GRCm39)	N82K	possibly damaging	Het
Ina	T	G	19: 47,010,358 (GRCm39)	N384K	probably damaging	Het
Kirrel2	T	C	7: 30,149,883 (GRCm39)	N541D	possibly damaging	Het
Lrp2	A	T	2: 69,263,421 (GRCm39)	I4377N	possibly damaging	Het
Lrrc37a	A	G	11: 103,355,221 (GRCm39)	V2532A	unknown	Het
Mast4	T	C	13: 102,871,781 (GRCm39)	E2529G	probably damaging	Het
Myh6	T	C	14: 55,183,777 (GRCm39)	H1719R	possibly damaging	Het
Myo5a	A	T	9: 75,101,259 (GRCm39)	H150L	probably benign	Het
Naglu	C	T	11: 100,964,933 (GRCm39)		probably benign	Het
Nags	G	A	11: 102,036,530 (GRCm39)	A40T	unknown	Het
Nav1	G	T	1: 135,460,359 (GRCm39)	Y321*	probably null	Het
Nav1	A	T	1: 135,460,361 (GRCm39)	Y321N	probably damaging	Het
Neu3	C	T	7: 99,462,985 (GRCm39)	S246N	probably benign	Het
Npy5r	C	T	8: 67,134,625 (GRCm39)	G56D	probably benign	Het
Nrxn1	A	G	17: 91,395,742 (GRCm39)	V138A	possibly damaging	Het
Nuggc	C	T	14: 65,850,921 (GRCm39)	Q264*	probably null	Het
Ogfod1	G	A	8: 94,790,156 (GRCm39)		probably null	Het
Or1o11	T	A	17: 37,756,757 (GRCm39)	F115Y	probably damaging	Het
Or2t45	A	T	11: 58,669,195 (GRCm39)	M81L	probably benign	Het
Or5b101	A	G	19: 13,005,663 (GRCm39)	F10S	probably damaging	Het
Or5p66	A	G	7: 107,885,478 (GRCm39)	V285A	probably benign	Het
Per1	T	A	11: 68,993,103 (GRCm39)	I340N	probably damaging	Het
Pkhd1	C	T	1: 20,451,771 (GRCm39)	A2175T	probably benign	Het
Pogk	A	G	1: 166,231,171 (GRCm39)	V52A	probably damaging	Het
Pou2af3	C	T	9: 51,191,834 (GRCm39)		probably benign	Het
Ppib	A	T	9: 65,973,601 (GRCm39)	T185S	possibly damaging	Het
Ptar1	G	T	19: 23,697,563 (GRCm39)	M358I	probably damaging	Het
Qser1	A	C	2: 104,593,226 (GRCm39)	I1597S	probably damaging	Het
Ranbp17	T	C	11: 33,424,896 (GRCm39)	I487V	probably benign	Het
Repin1	C	A	6: 48,574,459 (GRCm39)	R460S	probably damaging	Het
Sfmbt1	T	C	14: 30,509,574 (GRCm39)		probably benign	Het
Sh3rf1	C	T	8: 61,846,696 (GRCm39)		probably benign	Het
Shroom3	C	T	5: 92,928,762 (GRCm39)	R106C	probably damaging	Het
Siglecf	T	A	7: 43,005,399 (GRCm39)	V453D	probably damaging	Het
Slc2a9	A	G	5: 38,610,512 (GRCm39)	S96P	probably damaging	Het
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	probably damaging	Het
Slf1	A	G	13: 77,254,088 (GRCm39)		probably benign	Het
Smad1	T	G	8: 80,076,411 (GRCm39)	K269T	probably benign	Het
Srp54b	G	A	12: 55,296,884 (GRCm39)	R194H	probably damaging	Het
St8sia6	T	A	2: 13,670,247 (GRCm39)	S238C	probably damaging	Het
Stat3	A	T	11: 100,780,763 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,429,497 (GRCm39)	H37L	probably benign	Het
Tas1r2	T	A	4: 139,382,665 (GRCm39)	M101K	possibly damaging	Het
Tesc	A	G	5: 118,191,647 (GRCm39)		probably null	Het
Tle3	T	A	9: 61,317,353 (GRCm39)	M334K	probably damaging	Het
Tmem151a	A	T	19: 5,132,261 (GRCm39)	V315E	probably damaging	Het
Tmprss2	T	C	16: 97,368,245 (GRCm39)	D480G	probably damaging	Het
Trmt1	C	A	8: 85,423,741 (GRCm39)		probably null	Het
Tsr3	T	C	17: 25,461,198 (GRCm39)		probably null	Het
Ube2u	A	G	4: 100,338,845 (GRCm39)	K37E	probably benign	Het
Usp16	T	A	16: 87,272,334 (GRCm39)	D382E	probably damaging	Het
Usp9y	A	T	Y: 1,340,053 (GRCm39)	F1442Y	probably damaging	Het
Utp20	A	T	10: 88,654,457 (GRCm39)	M210K	probably damaging	Het
Utp25	T	C	1: 192,805,984 (GRCm39)	E187G	possibly damaging	Het
V1ra8	C	T	6: 90,179,991 (GRCm39)	L65F	possibly damaging	Het
Vmn2r10	T	C	5: 109,149,859 (GRCm39)	N395S	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp330	G	A	8: 83,491,511 (GRCm39)	Q221*	probably null	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
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

PCR Primer
(F):5'- CATGGCATCTCCGTTCCTAAAGCTC -3'
(R):5'- TACCTGCAATCCAGGCATTCCG -3'

Sequencing Primer
(F):5'- AGATGAGGTTCCAGACTCTCC -3'
(R):5'- AAGAGAGCTCCCTGCCA -3'

Posted On

2013-04-24