Mutagenetix > Incidental Mutation

Incidental Mutation 'R1991:Col18a1'

225172

Institutional Source

Beutler Lab

Gene Symbol

Col18a1

Ensembl Gene

ENSMUSG00000001435

Gene Name

collagen, type XVIII, alpha 1

Synonyms

endostatin

MMRRC Submission

040002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77052178-77166548 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77081154 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 114 (I114V)

Ref Sequence

ENSEMBL: ENSMUSP00000122580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072755] [ENSMUST00000081654] [ENSMUST00000105409] [ENSMUST00000156009]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000072755
AA Change: I783V

SMART Domains

Protein: ENSMUSP00000072538
Gene: ENSMUSG00000001435
AA Change: I783V

Domain	Start	End	E-Value	Type
Pfam:DUF959	16	218	6.8e-104	PFAM
low complexity region	295	307	N/A	INTRINSIC
FRI	369	484	4.03e-47	SMART
TSPN	492	680	4.25e-72	SMART
LamG	541	679	2.17e-2	SMART
low complexity region	699	715	N/A	INTRINSIC
low complexity region	719	734	N/A	INTRINSIC
low complexity region	739	751	N/A	INTRINSIC
Pfam:Collagen	820	881	5.5e-11	PFAM
low complexity region	921	942	N/A	INTRINSIC
Pfam:Collagen	951	1008	6.1e-10	PFAM
Pfam:Collagen	988	1053	1.4e-8	PFAM
Pfam:Collagen	1060	1117	7.3e-10	PFAM
low complexity region	1132	1147	N/A	INTRINSIC
low complexity region	1166	1181	N/A	INTRINSIC
low complexity region	1186	1202	N/A	INTRINSIC
Pfam:Collagen	1207	1267	8.2e-10	PFAM
low complexity region	1275	1288	N/A	INTRINSIC
low complexity region	1301	1319	N/A	INTRINSIC
low complexity region	1358	1393	N/A	INTRINSIC
low complexity region	1397	1414	N/A	INTRINSIC
low complexity region	1417	1433	N/A	INTRINSIC
low complexity region	1441	1454	N/A	INTRINSIC
Pfam:Endostatin	1461	1769	4.4e-116	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000081654
AA Change: I324V

SMART Domains

Protein: ENSMUSP00000080358
Gene: ENSMUSG00000001435
AA Change: I324V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
TSPN	33	221	4.25e-72	SMART
LamG	82	220	2.17e-2	SMART
low complexity region	240	256	N/A	INTRINSIC
low complexity region	260	275	N/A	INTRINSIC
low complexity region	280	292	N/A	INTRINSIC
Pfam:Collagen	359	422	1.6e-10	PFAM
low complexity region	462	483	N/A	INTRINSIC
Pfam:Collagen	492	549	1.6e-9	PFAM
Pfam:Collagen	529	594	3.3e-8	PFAM
Pfam:Collagen	601	658	1.9e-9	PFAM
Pfam:Collagen	631	689	4e-8	PFAM
Pfam:Collagen	701	752	1.7e-7	PFAM
Pfam:Collagen	748	808	2.2e-9	PFAM
low complexity region	816	829	N/A	INTRINSIC
low complexity region	842	860	N/A	INTRINSIC
low complexity region	899	934	N/A	INTRINSIC
low complexity region	938	955	N/A	INTRINSIC
low complexity region	958	974	N/A	INTRINSIC
low complexity region	982	995	N/A	INTRINSIC
Pfam:Endostatin	999	1315	8.2e-151	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000105409
AA Change: I536V

SMART Domains

Protein: ENSMUSP00000101049
Gene: ENSMUSG00000001435
AA Change: I536V

Domain	Start	End	E-Value	Type
Pfam:DUF959	16	219	3.6e-100	PFAM
TSPN	245	433	4.25e-72	SMART
LamG	294	432	2.17e-2	SMART
low complexity region	452	468	N/A	INTRINSIC
low complexity region	472	487	N/A	INTRINSIC
low complexity region	492	504	N/A	INTRINSIC
low complexity region	542	613	N/A	INTRINSIC
low complexity region	630	648	N/A	INTRINSIC
low complexity region	674	695	N/A	INTRINSIC
Pfam:Collagen	700	761	5.4e-9	PFAM
Pfam:Collagen	741	806	4e-8	PFAM
Pfam:Collagen	813	874	2.1e-10	PFAM
Pfam:Collagen	846	901	1.2e-7	PFAM
Pfam:Collagen	913	964	2.1e-7	PFAM
Pfam:Collagen	960	1020	2.6e-9	PFAM
low complexity region	1028	1041	N/A	INTRINSIC
low complexity region	1054	1072	N/A	INTRINSIC
low complexity region	1111	1146	N/A	INTRINSIC
low complexity region	1150	1167	N/A	INTRINSIC
low complexity region	1170	1186	N/A	INTRINSIC
low complexity region	1194	1207	N/A	INTRINSIC
Pfam:Endostatin	1211	1527	1.1e-150	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000156009
AA Change: I114V

SMART Domains

Protein: ENSMUSP00000122580
Gene: ENSMUSG00000001435
AA Change: I114V

Domain	Start	End	E-Value	Type
low complexity region	30	46	N/A	INTRINSIC
low complexity region	50	65	N/A	INTRINSIC
low complexity region	70	82	N/A	INTRINSIC
low complexity region	120	161	N/A	INTRINSIC

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (124/124)

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 XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,065,658 (GRCm38)	R203*	probably null	Het
Abcc2	A	T	19: 43,807,142 (GRCm38)	I446F	probably damaging	Het
Afap1l2	A	T	19: 57,002,267 (GRCm38)	I18N	possibly damaging	Het
Aida	A	T	1: 183,313,692 (GRCm38)	E107D	probably benign	Het
Amer2	A	G	14: 60,379,820 (GRCm38)	Y362C	probably damaging	Het
Amigo1	T	C	3: 108,187,328 (GRCm38)	S48P	probably benign	Het
Ano5	A	G	7: 51,537,813 (GRCm38)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,483,816 (GRCm38)	D95V	probably damaging	Het
Arhgap22	A	G	14: 33,366,959 (GRCm38)	N466D	probably damaging	Het
Armc3	T	C	2: 19,293,142 (GRCm38)	Y575H	probably damaging	Het
Ascc2	A	G	11: 4,679,257 (GRCm38)	E523G	probably benign	Het
B3galt5	A	T	16: 96,316,025 (GRCm38)	K286M	probably damaging	Het
Bag3	C	T	7: 128,545,683 (GRCm38)	H341Y	probably benign	Het
Blm	G	T	7: 80,505,949 (GRCm38)		probably null	Het
Cacna1b	G	A	2: 24,732,306 (GRCm38)	P222L	probably damaging	Het
Cap2	T	A	13: 46,637,881 (GRCm38)	Y175N	possibly damaging	Het
Cd81	G	T	7: 143,067,201 (GRCm38)	G206*	probably null	Het
Cep290	T	A	10: 100,531,184 (GRCm38)	S1132R	possibly damaging	Het
Cluh	C	A	11: 74,659,529 (GRCm38)	C222*	probably null	Het
Col14a1	A	T	15: 55,449,940 (GRCm38)	D1320V	unknown	Het
Cped1	A	G	6: 22,233,927 (GRCm38)	T847A	probably damaging	Het
Cpne7	A	G	8: 123,127,437 (GRCm38)	K288E	possibly damaging	Het
Cr2	G	A	1: 195,154,150 (GRCm38)	P1278S	possibly damaging	Het
Creb3	C	A	4: 43,565,327 (GRCm38)	R202S	probably damaging	Het
Cyp2j9	T	A	4: 96,571,964 (GRCm38)	K434M	probably damaging	Het
Dpp10	A	T	1: 123,905,106 (GRCm38)	V48E	probably null	Het
Dsg2	A	G	18: 20,601,473 (GRCm38)	K836R	probably damaging	Het
Dst	A	G	1: 34,190,258 (GRCm38)	T1986A	probably benign	Het
Dvl1	G	A	4: 155,847,816 (GRCm38)	V28I	possibly damaging	Het
Ecm2	A	G	13: 49,530,256 (GRCm38)	D570G	probably benign	Het
Efhc1	T	A	1: 20,989,560 (GRCm38)	C611*	probably null	Het
Epop	T	C	11: 97,628,654 (GRCm38)	T210A	probably benign	Het
Erc2	A	G	14: 28,011,636 (GRCm38)	I556V	probably benign	Het
Fdxacb1	A	T	9: 50,771,646 (GRCm38)	N101I	probably benign	Het
Fhad1	T	C	4: 141,982,162 (GRCm38)	S294G	possibly damaging	Het
Galnt16	A	G	12: 80,583,656 (GRCm38)	D262G	probably damaging	Het
Gm9573	A	T	17: 35,618,708 (GRCm38)	S1529T	probably benign	Het
Gorab	A	G	1: 163,397,056 (GRCm38)	S59P	probably damaging	Het
Gpr161	G	T	1: 165,306,563 (GRCm38)	M131I	probably damaging	Het
Gpr22	T	A	12: 31,709,203 (GRCm38)	M270L	probably benign	Het
Grin3b	C	A	10: 79,970,912 (GRCm38)	Q5K	probably benign	Het
Grin3b	C	T	10: 79,974,646 (GRCm38)	A662V	probably damaging	Het
Gsdmc	A	G	15: 63,801,899 (GRCm38)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,828,237 (GRCm38)	M229L	probably benign	Het
H2-Eb2	A	G	17: 34,334,304 (GRCm38)	I155V	probably benign	Het
Hoga1	A	C	19: 42,060,020 (GRCm38)		probably null	Het
Hs3st5	A	G	10: 36,832,886 (GRCm38)	Y139C	probably damaging	Het
Il10ra	C	A	9: 45,255,811 (GRCm38)	A481S	probably benign	Het
Ints2	T	A	11: 86,248,934 (GRCm38)	H278L	possibly damaging	Het
Kalrn	T	G	16: 33,975,738 (GRCm38)	L1222F	probably damaging	Het
Klhl25	T	A	7: 75,866,732 (GRCm38)	V157D	probably damaging	Het
Klk1b26	A	T	7: 44,016,900 (GRCm38)	T256S	probably damaging	Het
Krt81	T	C	15: 101,462,554 (GRCm38)	Q184R	probably benign	Het
Lce1k	A	T	3: 92,806,818 (GRCm38)	C20S	unknown	Het
Letm1	A	AG	5: 33,769,515 (GRCm38)		probably null	Het
Lin54	A	G	5: 100,485,801 (GRCm38)		probably null	Het
Lrrc37a	T	C	11: 103,500,261 (GRCm38)	E1446G	probably benign	Het
Macf1	A	G	4: 123,456,695 (GRCm38)	S3792P	probably damaging	Het
Manba	T	A	3: 135,551,191 (GRCm38)	D538E	probably benign	Het
Mcc	C	A	18: 44,491,315 (GRCm38)	E213*	probably null	Het
Mfap4	T	C	11: 61,485,807 (GRCm38)		probably null	Het
Nebl	T	A	2: 17,452,510 (GRCm38)	I80F	probably damaging	Het
Nek4	A	G	14: 30,956,953 (GRCm38)	I145V	probably damaging	Het
Nlrp14	T	C	7: 107,196,200 (GRCm38)	V230A	probably benign	Het
Nxf3	G	A	X: 136,075,834 (GRCm38)	P380S	possibly damaging	Het
Olfr1451	T	C	19: 12,999,502 (GRCm38)	V172A	possibly damaging	Het
Olfr403	T	C	11: 74,196,163 (GRCm38)	V220A	probably damaging	Het
Olfr421-ps1	C	T	1: 174,152,121 (GRCm38)	H202Y	probably damaging	Het
Olfr490	C	A	7: 108,286,359 (GRCm38)	G256*	probably null	Het
Olfr745	G	A	14: 50,642,866 (GRCm38)	C195Y	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,859 (GRCm38)	T430I	possibly damaging	Het
Piezo2	A	T	18: 63,074,662 (GRCm38)	L1426Q	probably null	Het
Pigk	T	A	3: 152,744,494 (GRCm38)	Y212N	probably damaging	Het
Pigm	T	G	1: 172,377,261 (GRCm38)	L188R	probably damaging	Het
Plce1	T	C	19: 38,777,924 (GRCm38)	F2117S	probably damaging	Het
Plec	A	G	15: 76,173,543 (GRCm38)	F4055L	probably damaging	Het
Plk5	C	T	10: 80,363,102 (GRCm38)	S435L	possibly damaging	Het
Pms1	G	A	1: 53,282,042 (GRCm38)	L11F	probably damaging	Het
Prl3b1	C	T	13: 27,247,912 (GRCm38)	T140I	possibly damaging	Het
Prl7a1	T	G	13: 27,633,672 (GRCm38)	D203A	probably damaging	Het
Psg17	A	G	7: 18,814,652 (GRCm38)	V398A	probably benign	Het
Pum1	T	A	4: 130,718,218 (GRCm38)	I166K	possibly damaging	Het
R3hdm1	T	A	1: 128,169,016 (GRCm38)	D108E	probably damaging	Het
Reln	A	T	5: 21,969,360 (GRCm38)	D1948E	possibly damaging	Het
Rnf112	C	T	11: 61,452,426 (GRCm38)	R141Q	probably damaging	Het
Rnf145	T	C	11: 44,561,466 (GRCm38)	V424A	possibly damaging	Het
Serpina3m	C	A	12: 104,389,699 (GRCm38)	Y208*	probably null	Het
Serpind1	T	C	16: 17,342,944 (GRCm38)	V446A	probably benign	Het
Shc3	T	A	13: 51,442,836 (GRCm38)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,330,339 (GRCm38)	F304L	probably benign	Het
Slpi	C	T	2: 164,355,543 (GRCm38)	C28Y	probably damaging	Het
Specc1	C	A	11: 62,029,294 (GRCm38)	P7T	possibly damaging	Het
Spib	T	C	7: 44,528,857 (GRCm38)	E180G	probably benign	Het
Spint5	T	C	2: 164,716,983 (GRCm38)		probably benign	Het
Ssr2	T	A	3: 88,576,867 (GRCm38)		probably benign	Het
Tbrg1	T	C	9: 37,649,419 (GRCm38)	D387G	probably benign	Het
Tex14	T	G	11: 87,549,470 (GRCm38)	L1367R	probably damaging	Het
Tfpi	A	C	2: 84,458,016 (GRCm38)		probably benign	Het
Tlr5	T	A	1: 182,974,347 (GRCm38)	D405E	probably damaging	Het
Tnnt3	C	T	7: 142,511,525 (GRCm38)	R131C	possibly damaging	Het
Tnxb	T	C	17: 34,671,904 (GRCm38)	V407A	probably damaging	Het
Tnxb	A	G	17: 34,682,251 (GRCm38)	Y1013C	probably damaging	Het
Tpx2	T	A	2: 152,890,624 (GRCm38)	M606K	probably benign	Het
Trim30a	T	A	7: 104,430,230 (GRCm38)		probably benign	Het
Trim46	A	T	3: 89,237,701 (GRCm38)	Y489N	probably damaging	Het
Trpm6	A	T	19: 18,796,284 (GRCm38)	H380L	probably benign	Het
Tstd2	A	G	4: 46,120,563 (GRCm38)	I279T	probably benign	Het
Ttn	C	T	2: 76,946,391 (GRCm38)		probably null	Het
Txnl1	T	C	18: 63,679,514 (GRCm38)	T70A	probably benign	Het
Ush2a	C	T	1: 188,578,532 (GRCm38)		probably benign	Het
Usp1	A	G	4: 98,934,294 (GRCm38)	D615G	probably benign	Het
Virma	T	A	4: 11,519,242 (GRCm38)	C830S	probably benign	Het
Vmn1r7	A	T	6: 57,024,868 (GRCm38)	S136T	probably benign	Het
Vmn2r9	A	G	5: 108,846,439 (GRCm38)	V448A	probably damaging	Het
Vps11	G	A	9: 44,359,227 (GRCm38)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,467,468 (GRCm38)	T476A	possibly damaging	Het
Wdr63	G	T	3: 146,063,480 (GRCm38)	T522K	possibly damaging	Het
Whamm	C	T	7: 81,591,771 (GRCm38)	R277*	probably null	Het
Wnt8a	A	G	18: 34,544,884 (GRCm38)	D115G	probably damaging	Het
Xndc1	T	A	7: 102,073,191 (GRCm38)	V21E	probably damaging	Het
Zc3hav1	C	A	6: 38,336,517 (GRCm38)	V198L	probably damaging	Het
Zfp874a	T	A	13: 67,442,504 (GRCm38)	I354F	probably benign	Het
Zfr2	A	T	10: 81,242,852 (GRCm38)	D306V	possibly damaging	Het

Other mutations in Col18a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Col18a1	APN	10	77,069,979 (GRCm38)	missense	possibly damaging	0.93
IGL01023:Col18a1	APN	10	77,070,975 (GRCm38)	missense	probably damaging	0.98
IGL01304:Col18a1	APN	10	77,076,141 (GRCm38)	unclassified	probably benign
IGL01519:Col18a1	APN	10	77,059,323 (GRCm38)	missense	probably damaging	0.99
IGL02217:Col18a1	APN	10	77,053,298 (GRCm38)	missense	probably damaging	0.96
IGL02275:Col18a1	APN	10	77,059,383 (GRCm38)	missense	possibly damaging	0.92
IGL02283:Col18a1	APN	10	77,113,109 (GRCm38)	missense	possibly damaging	0.71
IGL02492:Col18a1	APN	10	77,072,021 (GRCm38)	splice site	probably benign
IGL02673:Col18a1	APN	10	77,059,163 (GRCm38)	missense	probably damaging	1.00
IGL02710:Col18a1	APN	10	77,113,312 (GRCm38)	missense	possibly damaging	0.92
IGL02850:Col18a1	APN	10	77,096,466 (GRCm38)	missense	probably damaging	0.98
IGL03085:Col18a1	APN	10	77,059,181 (GRCm38)	splice site	probably benign
IGL03102:Col18a1	APN	10	77,067,623 (GRCm38)	splice site	probably benign
IGL03139:Col18a1	APN	10	77,113,343 (GRCm38)	missense	possibly damaging	0.84
IGL03181:Col18a1	APN	10	77,055,698 (GRCm38)	missense	probably damaging	1.00
IGL03183:Col18a1	APN	10	77,073,754 (GRCm38)	missense	probably damaging	1.00
R0039:Col18a1	UTSW	10	77,077,168 (GRCm38)	missense	probably damaging	1.00
R0180:Col18a1	UTSW	10	77,096,517 (GRCm38)	missense	probably benign	0.33
R0225:Col18a1	UTSW	10	77,088,914 (GRCm38)	missense	possibly damaging	0.90
R0335:Col18a1	UTSW	10	77,059,363 (GRCm38)	missense	probably damaging	0.99
R0336:Col18a1	UTSW	10	77,058,736 (GRCm38)	missense	probably damaging	1.00
R1471:Col18a1	UTSW	10	77,096,206 (GRCm38)	missense	unknown
R1538:Col18a1	UTSW	10	77,071,336 (GRCm38)	missense	probably damaging	1.00
R1594:Col18a1	UTSW	10	77,113,036 (GRCm38)	missense	possibly damaging	0.51
R1631:Col18a1	UTSW	10	77,059,297 (GRCm38)	missense	probably damaging	0.99
R1774:Col18a1	UTSW	10	77,059,981 (GRCm38)	missense	probably damaging	0.96
R1934:Col18a1	UTSW	10	77,112,744 (GRCm38)	missense	possibly damaging	0.73
R1990:Col18a1	UTSW	10	77,081,154 (GRCm38)	missense	unknown
R1992:Col18a1	UTSW	10	77,081,154 (GRCm38)	missense	unknown
R2081:Col18a1	UTSW	10	77,054,185 (GRCm38)	missense	probably damaging	1.00
R2082:Col18a1	UTSW	10	77,059,293 (GRCm38)	missense	probably damaging	1.00
R2351:Col18a1	UTSW	10	77,112,704 (GRCm38)	missense	probably benign	0.00
R2510:Col18a1	UTSW	10	77,096,268 (GRCm38)	missense	unknown
R3076:Col18a1	UTSW	10	77,088,928 (GRCm38)	missense	possibly damaging	0.57
R3433:Col18a1	UTSW	10	77,096,268 (GRCm38)	missense	unknown
R3800:Col18a1	UTSW	10	77,067,387 (GRCm38)	nonsense	probably null
R3918:Col18a1	UTSW	10	77,053,358 (GRCm38)	missense	probably benign	0.05
R3981:Col18a1	UTSW	10	77,088,887 (GRCm38)	missense	probably damaging	0.99
R3983:Col18a1	UTSW	10	77,088,887 (GRCm38)	missense	probably damaging	0.99
R4182:Col18a1	UTSW	10	77,058,841 (GRCm38)	splice site	probably null
R4239:Col18a1	UTSW	10	77,096,167 (GRCm38)	missense	unknown
R5014:Col18a1	UTSW	10	77,070,960 (GRCm38)	critical splice donor site	probably null
R5107:Col18a1	UTSW	10	77,077,223 (GRCm38)	critical splice acceptor site	probably null
R5413:Col18a1	UTSW	10	77,069,476 (GRCm38)	missense	probably damaging	1.00
R5503:Col18a1	UTSW	10	77,071,620 (GRCm38)	missense	probably damaging	1.00
R5524:Col18a1	UTSW	10	77,058,724 (GRCm38)	missense	probably damaging	1.00
R5772:Col18a1	UTSW	10	77,166,343 (GRCm38)	missense	unknown
R5958:Col18a1	UTSW	10	77,096,397 (GRCm38)	missense	probably benign	0.01
R6280:Col18a1	UTSW	10	77,112,489 (GRCm38)	intron	probably benign
R6309:Col18a1	UTSW	10	77,112,742 (GRCm38)	intron	probably benign
R6603:Col18a1	UTSW	10	77,063,977 (GRCm38)	critical splice donor site	probably null
R6608:Col18a1	UTSW	10	77,112,794 (GRCm38)	intron	probably benign
R6805:Col18a1	UTSW	10	77,054,239 (GRCm38)	missense	probably damaging	1.00
R6890:Col18a1	UTSW	10	77,113,484 (GRCm38)	intron	probably benign
R6938:Col18a1	UTSW	10	77,112,499 (GRCm38)	intron	probably benign
R7002:Col18a1	UTSW	10	77,166,343 (GRCm38)	missense	unknown
R7154:Col18a1	UTSW	10	77,072,965 (GRCm38)	missense	probably benign	0.25
R7204:Col18a1	UTSW	10	77,085,276 (GRCm38)	missense	unknown
R7278:Col18a1	UTSW	10	77,096,284 (GRCm38)	missense	unknown
R7442:Col18a1	UTSW	10	77,096,238 (GRCm38)	missense	unknown
R7453:Col18a1	UTSW	10	77,085,210 (GRCm38)	splice site	probably null
R7597:Col18a1	UTSW	10	77,113,303 (GRCm38)	missense	unknown
R7615:Col18a1	UTSW	10	77,067,005 (GRCm38)	missense	probably damaging	1.00
R7671:Col18a1	UTSW	10	77,085,383 (GRCm38)	missense	unknown
R7696:Col18a1	UTSW	10	77,085,272 (GRCm38)	missense	unknown
R7719:Col18a1	UTSW	10	77,078,012 (GRCm38)	missense	probably benign	0.13
R7772:Col18a1	UTSW	10	77,068,386 (GRCm38)	splice site	probably null
R8077:Col18a1	UTSW	10	77,080,851 (GRCm38)	missense	unknown
R8085:Col18a1	UTSW	10	77,088,907 (GRCm38)	missense	unknown
R8097:Col18a1	UTSW	10	77,112,508 (GRCm38)	missense	unknown
R8117:Col18a1	UTSW	10	77,059,974 (GRCm38)	missense	probably benign	0.41
R8130:Col18a1	UTSW	10	77,074,450 (GRCm38)	missense	probably benign	0.03
R8151:Col18a1	UTSW	10	77,112,584 (GRCm38)	missense	unknown
R8379:Col18a1	UTSW	10	77,053,238 (GRCm38)	missense	probably benign	0.08
R8479:Col18a1	UTSW	10	77,081,154 (GRCm38)	missense	unknown
R8523:Col18a1	UTSW	10	77,054,234 (GRCm38)	missense	probably damaging	0.99
R8862:Col18a1	UTSW	10	77,113,210 (GRCm38)	nonsense	probably null
R9109:Col18a1	UTSW	10	77,057,370 (GRCm38)	missense	probably damaging	1.00
R9298:Col18a1	UTSW	10	77,057,370 (GRCm38)	missense	probably damaging	1.00
R9312:Col18a1	UTSW	10	77,058,772 (GRCm38)	missense	probably damaging	0.98
R9366:Col18a1	UTSW	10	77,096,424 (GRCm38)	missense	unknown
R9399:Col18a1	UTSW	10	77,080,750 (GRCm38)	missense	unknown
R9559:Col18a1	UTSW	10	77,077,796 (GRCm38)	missense	probably damaging	1.00
R9649:Col18a1	UTSW	10	77,080,839 (GRCm38)	missense	unknown
R9689:Col18a1	UTSW	10	77,080,744 (GRCm38)	nonsense	probably null
R9719:Col18a1	UTSW	10	77,113,598 (GRCm38)	missense	unknown
Z1176:Col18a1	UTSW	10	77,112,851 (GRCm38)	missense	unknown
Z1176:Col18a1	UTSW	10	77,055,709 (GRCm38)	missense	possibly damaging	0.81
Z1177:Col18a1	UTSW	10	77,112,838 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGTTCAGCAGGGTATGGAG -3'
(R):5'- GAAAGACAGGTGGCCATTCC -3'

Sequencing Primer
(F):5'- CAGGGTATGGAGGGAGGGTTC -3'
(R):5'- AGACAGGTGGCCATTCCCATAG -3'

Posted On

2014-08-25