Mutagenetix > Incidental Mutation

Incidental Mutation 'R7671:Col18a1'

592169

Institutional Source

Beutler Lab

Gene Symbol

Col18a1

Ensembl Gene

ENSMUSG00000001435

Gene Name

collagen, type XVIII, alpha 1

Synonyms

endostatin

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7671 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77052178-77166548 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77085383 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 261 (L261P)

Ref Sequence

ENSEMBL: ENSMUSP00000080358 (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: L720P

SMART Domains

Protein: ENSMUSP00000072538
Gene: ENSMUSG00000001435
AA Change: L720P

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: L261P

SMART Domains

Protein: ENSMUSP00000080358
Gene: ENSMUSG00000001435
AA Change: L261P

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: L473P

SMART Domains

Protein: ENSMUSP00000101049
Gene: ENSMUSG00000001435
AA Change: L473P

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: L51P

SMART Domains

Protein: ENSMUSP00000122580
Gene: ENSMUSG00000001435
AA Change: L51P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,259,925	I394N	probably damaging	Het
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
4932438A13Rik	T	C	3: 36,943,231	F1146L	probably damaging	Het
4933406M09Rik	T	C	1: 134,390,062	C191R	probably benign	Het
Akap13	C	A	7: 75,569,900	T17K	probably damaging	Het
Ankrd29	T	A	18: 12,260,986	K257I	probably damaging	Het
Bicc1	A	G	10: 70,957,167	L219P	probably benign	Het
Boc	C	T	16: 44,491,849	V617M		Het
Ccl8	A	G	11: 82,115,207		probably benign	Het
Col5a3	T	A	9: 20,775,086		probably null	Het
Cryba4	A	C	5: 112,248,173		probably null	Het
Csf2rb	A	G	15: 78,338,930	Y114C	probably damaging	Het
Ctif	T	C	18: 75,472,016	D484G	probably damaging	Het
Ctnnal1	A	G	4: 56,837,848	F261L	probably damaging	Het
Defb22	A	T	2: 152,486,030	N78K	unknown	Het
Efr3a	G	A	15: 65,837,434		probably null	Het
Elp4	G	T	2: 105,904,481	A3E	probably damaging	Het
Emilin2	A	G	17: 71,273,910	V607A	probably benign	Het
Epsti1	A	G	14: 77,904,490	Y2C	probably damaging	Het
Fam81b	A	C	13: 76,271,293	L46R	probably damaging	Het
Fam81b	G	T	13: 76,271,294	L46I	possibly damaging	Het
Fbxo15	T	A	18: 84,964,153	H288Q	probably damaging	Het
Gabrg1	T	A	5: 70,815,980	N77I	probably damaging	Het
Ganab	A	G	19: 8,912,852	Y715C	possibly damaging	Het
Hist3h2ba	T	C	11: 58,949,276	S113P	possibly damaging	Het
Iqgap2	T	C	13: 95,628,119	D1539G	probably damaging	Het
Kcp	T	C	6: 29,496,517	N633S	probably benign	Het
Krt6a	C	A	15: 101,690,543	S529I	unknown	Het
Leo1	A	G	9: 75,445,562	H129R	probably benign	Het
Lmf1	G	A	17: 25,579,349	V55M	possibly damaging	Het
Mcm9	A	G	10: 53,537,569	S472P	probably benign	Het
Med27	T	A	2: 29,377,938	V33D		Het
Mup15	C	T	4: 61,438,289	E80K	probably benign	Het
Myo18a	G	A	11: 77,859,420	R199H		Het
Nebl	T	A	2: 17,390,916	R558*	probably null	Het
Olfr1121	A	G	2: 87,372,269	T246A	probably damaging	Het
Olfr1252	A	T	2: 89,721,259	I284K	probably damaging	Het
Olfr1329	A	T	4: 118,916,986	H160Q	probably benign	Het
Olfr506	T	C	7: 108,612,991	I228T	probably damaging	Het
Olfr740	G	T	14: 50,453,885	V278L	probably benign	Het
Olfr815	T	C	10: 129,902,353	D119G	probably damaging	Het
Olfr890	A	T	9: 38,143,440	M97L	probably benign	Het
Pde11a	A	T	2: 76,215,353	F376I	possibly damaging	Het
Prima1	A	T	12: 103,235,661	C52S	probably damaging	Het
Pxn	G	A	5: 115,548,547	R366H	not run	Het
Sgce	T	C	6: 4,691,564	Y337C	probably damaging	Het
Slc25a10	T	A	11: 120,495,460	M130K	probably benign	Het
Slc29a2	A	T	19: 5,024,262	N5I	probably benign	Het
Slc35a1	A	T	4: 34,673,875	H150Q		Het
Slc5a4a	T	A	10: 76,147,550	V7D	unknown	Het
Stk17b	T	A	1: 53,766,000	D134V	probably damaging	Het
Thbs3	T	A	3: 89,216,707	S36T	probably benign	Het
Thsd4	A	G	9: 60,428,174	S152P	probably benign	Het
Tmem67	G	T	4: 12,063,698	H422N	probably benign	Het
Tram1	C	A	1: 13,589,644	V27F	probably damaging	Het
Trim14	A	G	4: 46,507,238	V326A	possibly damaging	Het

Other mutations in Col18a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Col18a1	APN	10	77069979	missense	possibly damaging	0.93
IGL01023:Col18a1	APN	10	77070975	missense	probably damaging	0.98
IGL01304:Col18a1	APN	10	77076141	unclassified	probably benign
IGL01519:Col18a1	APN	10	77059323	missense	probably damaging	0.99
IGL02217:Col18a1	APN	10	77053298	missense	probably damaging	0.96
IGL02275:Col18a1	APN	10	77059383	missense	possibly damaging	0.92
IGL02283:Col18a1	APN	10	77113109	missense	possibly damaging	0.71
IGL02492:Col18a1	APN	10	77072021	splice site	probably benign
IGL02673:Col18a1	APN	10	77059163	missense	probably damaging	1.00
IGL02710:Col18a1	APN	10	77113312	missense	possibly damaging	0.92
IGL02850:Col18a1	APN	10	77096466	missense	probably damaging	0.98
IGL03085:Col18a1	APN	10	77059181	splice site	probably benign
IGL03102:Col18a1	APN	10	77067623	splice site	probably benign
IGL03139:Col18a1	APN	10	77113343	missense	possibly damaging	0.84
IGL03181:Col18a1	APN	10	77055698	missense	probably damaging	1.00
IGL03183:Col18a1	APN	10	77073754	missense	probably damaging	1.00
R0039:Col18a1	UTSW	10	77077168	missense	probably damaging	1.00
R0180:Col18a1	UTSW	10	77096517	missense	probably benign	0.33
R0225:Col18a1	UTSW	10	77088914	missense	possibly damaging	0.90
R0335:Col18a1	UTSW	10	77059363	missense	probably damaging	0.99
R0336:Col18a1	UTSW	10	77058736	missense	probably damaging	1.00
R1471:Col18a1	UTSW	10	77096206	missense	unknown
R1538:Col18a1	UTSW	10	77071336	missense	probably damaging	1.00
R1594:Col18a1	UTSW	10	77113036	missense	possibly damaging	0.51
R1631:Col18a1	UTSW	10	77059297	missense	probably damaging	0.99
R1774:Col18a1	UTSW	10	77059981	missense	probably damaging	0.96
R1934:Col18a1	UTSW	10	77112744	missense	possibly damaging	0.73
R1990:Col18a1	UTSW	10	77081154	missense	unknown
R1991:Col18a1	UTSW	10	77081154	missense	unknown
R1992:Col18a1	UTSW	10	77081154	missense	unknown
R2081:Col18a1	UTSW	10	77054185	missense	probably damaging	1.00
R2082:Col18a1	UTSW	10	77059293	missense	probably damaging	1.00
R2351:Col18a1	UTSW	10	77112704	missense	probably benign	0.00
R2510:Col18a1	UTSW	10	77096268	missense	unknown
R3076:Col18a1	UTSW	10	77088928	missense	possibly damaging	0.57
R3433:Col18a1	UTSW	10	77096268	missense	unknown
R3800:Col18a1	UTSW	10	77067387	nonsense	probably null
R3918:Col18a1	UTSW	10	77053358	missense	probably benign	0.05
R3981:Col18a1	UTSW	10	77088887	missense	probably damaging	0.99
R3983:Col18a1	UTSW	10	77088887	missense	probably damaging	0.99
R4182:Col18a1	UTSW	10	77058841	splice site	probably null
R4239:Col18a1	UTSW	10	77096167	missense	unknown
R5014:Col18a1	UTSW	10	77070960	critical splice donor site	probably null
R5107:Col18a1	UTSW	10	77077223	critical splice acceptor site	probably null
R5413:Col18a1	UTSW	10	77069476	missense	probably damaging	1.00
R5503:Col18a1	UTSW	10	77071620	missense	probably damaging	1.00
R5524:Col18a1	UTSW	10	77058724	missense	probably damaging	1.00
R5772:Col18a1	UTSW	10	77166343	missense	unknown
R5958:Col18a1	UTSW	10	77096397	missense	probably benign	0.01
R6280:Col18a1	UTSW	10	77112489	intron	probably benign
R6309:Col18a1	UTSW	10	77112742	intron	probably benign
R6603:Col18a1	UTSW	10	77063977	critical splice donor site	probably null
R6608:Col18a1	UTSW	10	77112794	intron	probably benign
R6805:Col18a1	UTSW	10	77054239	missense	probably damaging	1.00
R6890:Col18a1	UTSW	10	77113484	intron	probably benign
R6938:Col18a1	UTSW	10	77112499	intron	probably benign
R7002:Col18a1	UTSW	10	77166343	missense	unknown
R7154:Col18a1	UTSW	10	77072965	missense	probably benign	0.25
R7204:Col18a1	UTSW	10	77085276	missense	unknown
R7278:Col18a1	UTSW	10	77096284	missense	unknown
R7442:Col18a1	UTSW	10	77096238	missense	unknown
R7453:Col18a1	UTSW	10	77085210	splice site	probably null
R7597:Col18a1	UTSW	10	77113303	missense	unknown
R7615:Col18a1	UTSW	10	77067005	missense	probably damaging	1.00
R7696:Col18a1	UTSW	10	77085272	missense	unknown
R7719:Col18a1	UTSW	10	77078012	missense	probably benign	0.13
R7772:Col18a1	UTSW	10	77068386	splice site	probably null
R8077:Col18a1	UTSW	10	77080851	missense	unknown
R8085:Col18a1	UTSW	10	77088907	missense	unknown
R8097:Col18a1	UTSW	10	77112508	missense	unknown
R8117:Col18a1	UTSW	10	77059974	missense	probably benign	0.41
R8130:Col18a1	UTSW	10	77074450	missense	probably benign	0.03
R8151:Col18a1	UTSW	10	77112584	missense	unknown
R8379:Col18a1	UTSW	10	77053238	missense	probably benign	0.08
R8479:Col18a1	UTSW	10	77081154	missense	unknown
R8523:Col18a1	UTSW	10	77054234	missense	probably damaging	0.99
R8862:Col18a1	UTSW	10	77113210	nonsense	probably null
R9109:Col18a1	UTSW	10	77057370	missense	probably damaging	1.00
R9298:Col18a1	UTSW	10	77057370	missense	probably damaging	1.00
R9312:Col18a1	UTSW	10	77058772	missense	probably damaging	0.98
R9366:Col18a1	UTSW	10	77096424	missense	unknown
R9399:Col18a1	UTSW	10	77080750	missense	unknown
Z1176:Col18a1	UTSW	10	77055709	missense	possibly damaging	0.81
Z1176:Col18a1	UTSW	10	77112851	missense	unknown
Z1177:Col18a1	UTSW	10	77112838	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTGGCTCTGAAATAACTCTCATCC -3'
(R):5'- ACCTGTAGCACATACGTCTG -3'

Sequencing Primer
(F):5'- CACTGTGTGTGCGTGCAC -3'
(R):5'- CTGTAGCACATACGTCTGAAGAAATG -3'

Posted On

2019-11-12