Mutagenetix > Incidental Mutation

Incidental Mutation 'R1274:Col16a1'

150840

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

039340-MU

Accession Numbers

Essential gene?

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

Stock #

R1274 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

129941638-129993070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129991594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1431 (M1431K)

Ref Sequence

ENSEMBL: ENSMUSP00000035802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044565] [ENSMUST00000118199] [ENSMUST00000143432] [ENSMUST00000143577]

AlphaFold

Q8BLX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000044565
AA Change: M1431K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035802
Gene: ENSMUSG00000040690
AA Change: M1431K

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

probably benign
Transcript: ENSMUST00000118199

SMART Domains

Protein: ENSMUSP00000112638
Gene: ENSMUSG00000028779

Domain	Start	End	E-Value	Type
low complexity region	11	101	N/A	INTRINSIC
EFh	109	137	2.5e-2	SMART
EFh	146	174	1.23e1	SMART
EFh	176	204	4.42e-3	SMART
Blast:EFh	243	273	3e-9	BLAST

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: M1134K

SMART Domains

Protein: ENSMUSP00000120339
Gene: ENSMUSG00000040690
AA Change: M1134K

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	T	C	19: 56,902,995 (GRCm39)	D728G	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ceacam3	A	G	7: 16,897,064 (GRCm39)	R677G	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Gm6563	A	T	19: 23,653,701 (GRCm39)	I164F	probably benign	Het
Msantd5f6	T	C	4: 73,321,313 (GRCm39)	Y148C	probably damaging	Het
Nav2	C	A	7: 49,254,178 (GRCm39)	Y2325*	probably null	Het
Or10ak12	T	C	4: 118,666,593 (GRCm39)	N156S	probably benign	Het
Or5d36	A	C	2: 87,900,939 (GRCm39)	C262W	probably damaging	Het
P2ry12	T	C	3: 59,124,641 (GRCm39)	T345A	possibly damaging	Het
Ptpn13	C	T	5: 103,698,126 (GRCm39)	P1078S	probably damaging	Het
Rgs20	G	A	1: 4,982,670 (GRCm39)	T166I	probably damaging	Het
Sik1	A	T	17: 32,065,549 (GRCm39)	L683Q	possibly damaging	Het
Slc7a5	C	T	8: 122,610,453 (GRCm39)	V454M	probably benign	Het
Snx30	A	G	4: 59,885,133 (GRCm39)	T258A	probably benign	Het
Vmn1r234	CTT	CTTT	17: 21,449,513 (GRCm39)		probably null	Het
Zfp335	GTCCTCCTCCTCCTCCTC	GTCCTCCTCCTCCTC	2: 164,749,388 (GRCm39)		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
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
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'- GCCTGCTTGGCAAAGAGACCAATC -3'
(R):5'- GAGCTACCTCTCATTCCTGGCAAAC -3'

Sequencing Primer
(F):5'- TCCGGGACTATATTCAGAAGGC -3'
(R):5'- ATTCCTGGCAAACCCTGG -3'

Posted On

2014-01-29