Mutagenetix > Incidental Mutation

Incidental Mutation 'R8479:Col18a1'

657433

Institutional Source

Beutler Lab

Gene Symbol

Col18a1

Ensembl Gene

ENSMUSG00000001435

Gene Name

collagen, type XVIII, alpha 1

Synonyms

endostatin

MMRRC Submission

067923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8479 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76888013-77002351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76916988 bp (GRCm39)

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (52/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,061 (GRCm39)	H241Y	probably benign	Het
Afg3l2	C	T	18: 67,581,986 (GRCm39)	G29D	probably benign	Het
Ano2	T	C	6: 125,689,123 (GRCm39)	S52P	possibly damaging	Het
Atp11a	A	T	8: 12,892,932 (GRCm39)	E641V	possibly damaging	Het
Atp6v1d	T	C	12: 78,896,520 (GRCm39)	T116A	probably benign	Het
Cacna2d2	T	C	9: 107,403,596 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,574,628 (GRCm39)	Y537*	probably null	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cntnap2	C	T	6: 46,736,707 (GRCm39)	A711V	probably benign	Het
Crhbp	A	G	13: 95,578,632 (GRCm39)	V163A	possibly damaging	Het
Crmp1	C	A	5: 37,441,502 (GRCm39)	P414Q	possibly damaging	Het
Cse1l	G	A	2: 166,763,893 (GRCm39)	E78K	possibly damaging	Het
Ctnna2	A	G	6: 77,735,573 (GRCm39)	V35A	probably damaging	Het
Ddx1	T	A	12: 13,270,749 (GRCm39)	N654I	probably damaging	Het
Dido1	A	T	2: 180,315,022 (GRCm39)		probably null	Het
Dmtf1	C	T	5: 9,170,428 (GRCm39)	V630I	probably damaging	Het
Ercc6	T	C	14: 32,248,363 (GRCm39)	S305P	probably benign	Het
Ercc6l2	T	A	13: 63,972,629 (GRCm39)	S37T	possibly damaging	Het
Ess2	T	C	16: 17,728,805 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,419,862 (GRCm39)	M138T	probably damaging	Het
Galnt9	T	C	5: 110,692,617 (GRCm39)	V17A	probably benign	Het
Gm7324	T	C	14: 43,952,220 (GRCm39)	S288P	probably benign	Het
Gucy2e	G	A	11: 69,123,789 (GRCm39)	A370V	probably benign	Het
H2-T13	G	A	17: 36,395,111 (GRCm39)	A2V	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Ipo7	G	A	7: 109,638,452 (GRCm39)	V240I	probably benign	Het
Lrrc4c	A	G	2: 97,459,977 (GRCm39)	Y201C	probably damaging	Het
Ly6g2	A	G	15: 75,089,626 (GRCm39)	T45A	probably damaging	Het
Mapkap1	A	T	2: 34,471,302 (GRCm39)	S389C	probably damaging	Het
Met	G	T	6: 17,491,746 (GRCm39)		probably null	Het
Misp	T	C	10: 79,663,750 (GRCm39)	F575L	possibly damaging	Het
Mtmr11	T	C	3: 96,071,051 (GRCm39)	L136P	probably damaging	Het
Muc4	C	T	16: 32,574,799 (GRCm39)	T1128M	possibly damaging	Het
Nfyc	A	T	4: 120,626,089 (GRCm39)	V70E	probably damaging	Het
Nphp4	T	C	4: 152,608,747 (GRCm39)	S452P	probably benign	Het
Oasl2	T	A	5: 115,035,852 (GRCm39)	F43I	probably damaging	Het
Or10ak11	A	G	4: 118,687,212 (GRCm39)	C141R	probably damaging	Het
Or5g25	A	G	2: 85,478,447 (GRCm39)	S73P	probably damaging	Het
Pros1	G	T	16: 62,728,102 (GRCm39)	G269W	probably damaging	Het
Rif1	A	C	2: 52,002,563 (GRCm39)	S2006R	possibly damaging	Het
Ror2	G	T	13: 53,271,400 (GRCm39)	N306K	probably damaging	Het
Rragd	C	T	4: 33,018,734 (GRCm39)	A379V	probably benign	Het
Slc10a2	C	T	8: 5,148,443 (GRCm39)		probably null	Het
Susd3	C	T	13: 49,390,952 (GRCm39)	G113S	probably benign	Het
Tbc1d19	T	A	5: 54,041,031 (GRCm39)	M371K	possibly damaging	Het
Tnn	C	A	1: 159,950,397 (GRCm39)	R736S	probably benign	Het
Trio	T	C	15: 27,901,286 (GRCm39)	T323A	probably benign	Het
Ubqln1	G	A	13: 58,339,653 (GRCm39)	P324S	probably benign	Het
Uspl1	T	C	5: 149,152,004 (GRCm39)	L1068P	probably damaging	Het
Vmn2r86	A	T	10: 130,282,735 (GRCm39)	I627N	probably damaging	Het
Wdr35	C	A	12: 9,035,985 (GRCm39)	T252K	probably benign	Het
Zfp62	T	C	11: 49,107,319 (GRCm39)	I470T	probably damaging	Het

Other mutations in Col18a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Col18a1	APN	10	76,905,813 (GRCm39)	missense	possibly damaging	0.93
IGL01023:Col18a1	APN	10	76,906,809 (GRCm39)	missense	probably damaging	0.98
IGL01304:Col18a1	APN	10	76,911,975 (GRCm39)	unclassified	probably benign
IGL01519:Col18a1	APN	10	76,895,157 (GRCm39)	missense	probably damaging	0.99
IGL02217:Col18a1	APN	10	76,889,132 (GRCm39)	missense	probably damaging	0.96
IGL02275:Col18a1	APN	10	76,895,217 (GRCm39)	missense	possibly damaging	0.92
IGL02283:Col18a1	APN	10	76,948,943 (GRCm39)	missense	possibly damaging	0.71
IGL02492:Col18a1	APN	10	76,907,855 (GRCm39)	splice site	probably benign
IGL02673:Col18a1	APN	10	76,894,997 (GRCm39)	missense	probably damaging	1.00
IGL02710:Col18a1	APN	10	76,949,146 (GRCm39)	missense	possibly damaging	0.92
IGL02850:Col18a1	APN	10	76,932,300 (GRCm39)	missense	probably damaging	0.98
IGL03085:Col18a1	APN	10	76,895,015 (GRCm39)	splice site	probably benign
IGL03102:Col18a1	APN	10	76,903,457 (GRCm39)	splice site	probably benign
IGL03139:Col18a1	APN	10	76,949,177 (GRCm39)	missense	possibly damaging	0.84
IGL03181:Col18a1	APN	10	76,891,532 (GRCm39)	missense	probably damaging	1.00
IGL03183:Col18a1	APN	10	76,909,588 (GRCm39)	missense	probably damaging	1.00
R0039:Col18a1	UTSW	10	76,913,002 (GRCm39)	missense	probably damaging	1.00
R0180:Col18a1	UTSW	10	76,932,351 (GRCm39)	missense	probably benign	0.33
R0225:Col18a1	UTSW	10	76,924,748 (GRCm39)	missense	possibly damaging	0.90
R0335:Col18a1	UTSW	10	76,895,197 (GRCm39)	missense	probably damaging	0.99
R0336:Col18a1	UTSW	10	76,894,570 (GRCm39)	missense	probably damaging	1.00
R1471:Col18a1	UTSW	10	76,932,040 (GRCm39)	missense	unknown
R1538:Col18a1	UTSW	10	76,907,170 (GRCm39)	missense	probably damaging	1.00
R1594:Col18a1	UTSW	10	76,948,870 (GRCm39)	missense	possibly damaging	0.51
R1631:Col18a1	UTSW	10	76,895,131 (GRCm39)	missense	probably damaging	0.99
R1774:Col18a1	UTSW	10	76,895,815 (GRCm39)	missense	probably damaging	0.96
R1934:Col18a1	UTSW	10	76,948,578 (GRCm39)	missense	possibly damaging	0.73
R1990:Col18a1	UTSW	10	76,916,988 (GRCm39)	missense	unknown
R1991:Col18a1	UTSW	10	76,916,988 (GRCm39)	missense	unknown
R1992:Col18a1	UTSW	10	76,916,988 (GRCm39)	missense	unknown
R2081:Col18a1	UTSW	10	76,890,019 (GRCm39)	missense	probably damaging	1.00
R2082:Col18a1	UTSW	10	76,895,127 (GRCm39)	missense	probably damaging	1.00
R2351:Col18a1	UTSW	10	76,948,538 (GRCm39)	missense	probably benign	0.00
R2510:Col18a1	UTSW	10	76,932,102 (GRCm39)	missense	unknown
R3076:Col18a1	UTSW	10	76,924,762 (GRCm39)	missense	possibly damaging	0.57
R3433:Col18a1	UTSW	10	76,932,102 (GRCm39)	missense	unknown
R3800:Col18a1	UTSW	10	76,903,221 (GRCm39)	nonsense	probably null
R3918:Col18a1	UTSW	10	76,889,192 (GRCm39)	missense	probably benign	0.05
R3981:Col18a1	UTSW	10	76,924,721 (GRCm39)	missense	probably damaging	0.99
R3983:Col18a1	UTSW	10	76,924,721 (GRCm39)	missense	probably damaging	0.99
R4182:Col18a1	UTSW	10	76,894,675 (GRCm39)	splice site	probably null
R4239:Col18a1	UTSW	10	76,932,001 (GRCm39)	missense	unknown
R5014:Col18a1	UTSW	10	76,906,794 (GRCm39)	critical splice donor site	probably null
R5107:Col18a1	UTSW	10	76,913,057 (GRCm39)	critical splice acceptor site	probably null
R5413:Col18a1	UTSW	10	76,905,310 (GRCm39)	missense	probably damaging	1.00
R5503:Col18a1	UTSW	10	76,907,454 (GRCm39)	missense	probably damaging	1.00
R5524:Col18a1	UTSW	10	76,894,558 (GRCm39)	missense	probably damaging	1.00
R5772:Col18a1	UTSW	10	77,002,177 (GRCm39)	missense	unknown
R5958:Col18a1	UTSW	10	76,932,231 (GRCm39)	missense	probably benign	0.01
R6280:Col18a1	UTSW	10	76,948,323 (GRCm39)	intron	probably benign
R6309:Col18a1	UTSW	10	76,948,576 (GRCm39)	intron	probably benign
R6603:Col18a1	UTSW	10	76,899,811 (GRCm39)	critical splice donor site	probably null
R6608:Col18a1	UTSW	10	76,948,628 (GRCm39)	intron	probably benign
R6805:Col18a1	UTSW	10	76,890,073 (GRCm39)	missense	probably damaging	1.00
R6890:Col18a1	UTSW	10	76,949,318 (GRCm39)	intron	probably benign
R6938:Col18a1	UTSW	10	76,948,333 (GRCm39)	intron	probably benign
R7002:Col18a1	UTSW	10	77,002,177 (GRCm39)	missense	unknown
R7154:Col18a1	UTSW	10	76,908,799 (GRCm39)	missense	probably benign	0.25
R7204:Col18a1	UTSW	10	76,921,110 (GRCm39)	missense	unknown
R7278:Col18a1	UTSW	10	76,932,118 (GRCm39)	missense	unknown
R7442:Col18a1	UTSW	10	76,932,072 (GRCm39)	missense	unknown
R7453:Col18a1	UTSW	10	76,921,044 (GRCm39)	splice site	probably null
R7597:Col18a1	UTSW	10	76,949,137 (GRCm39)	missense	unknown
R7615:Col18a1	UTSW	10	76,902,839 (GRCm39)	missense	probably damaging	1.00
R7671:Col18a1	UTSW	10	76,921,217 (GRCm39)	missense	unknown
R7696:Col18a1	UTSW	10	76,921,106 (GRCm39)	missense	unknown
R7719:Col18a1	UTSW	10	76,913,846 (GRCm39)	missense	probably benign	0.13
R7772:Col18a1	UTSW	10	76,904,220 (GRCm39)	splice site	probably null
R8077:Col18a1	UTSW	10	76,916,685 (GRCm39)	missense	unknown
R8085:Col18a1	UTSW	10	76,924,741 (GRCm39)	missense	unknown
R8097:Col18a1	UTSW	10	76,948,342 (GRCm39)	missense	unknown
R8117:Col18a1	UTSW	10	76,895,808 (GRCm39)	missense	probably benign	0.41
R8130:Col18a1	UTSW	10	76,910,284 (GRCm39)	missense	probably benign	0.03
R8151:Col18a1	UTSW	10	76,948,418 (GRCm39)	missense	unknown
R8379:Col18a1	UTSW	10	76,889,072 (GRCm39)	missense	probably benign	0.08
R8523:Col18a1	UTSW	10	76,890,068 (GRCm39)	missense	probably damaging	0.99
R8862:Col18a1	UTSW	10	76,949,044 (GRCm39)	nonsense	probably null
R9109:Col18a1	UTSW	10	76,893,204 (GRCm39)	missense	probably damaging	1.00
R9298:Col18a1	UTSW	10	76,893,204 (GRCm39)	missense	probably damaging	1.00
R9312:Col18a1	UTSW	10	76,894,606 (GRCm39)	missense	probably damaging	0.98
R9366:Col18a1	UTSW	10	76,932,258 (GRCm39)	missense	unknown
R9399:Col18a1	UTSW	10	76,916,584 (GRCm39)	missense	unknown
R9559:Col18a1	UTSW	10	76,913,630 (GRCm39)	missense	probably damaging	1.00
R9649:Col18a1	UTSW	10	76,916,673 (GRCm39)	missense	unknown
R9689:Col18a1	UTSW	10	76,916,578 (GRCm39)	nonsense	probably null
R9719:Col18a1	UTSW	10	76,949,432 (GRCm39)	missense	unknown
Z1176:Col18a1	UTSW	10	76,948,685 (GRCm39)	missense	unknown
Z1176:Col18a1	UTSW	10	76,891,543 (GRCm39)	missense	possibly damaging	0.81
Z1177:Col18a1	UTSW	10	76,948,672 (GRCm39)	missense	unknown

Predicted Primers

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

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

Posted On

2021-01-18