Mutagenetix > Incidental Mutation

Incidental Mutation 'R9559:Col18a1'

720920

Institutional Source

Beutler Lab

Gene Symbol

Col18a1

Ensembl Gene

ENSMUSG00000001435

Gene Name

collagen, type XVIII, alpha 1

Synonyms

endostatin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9559 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76888013-77002351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76913630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 477 (G477E)

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

probably damaging
Transcript: ENSMUST00000072755
AA Change: G936E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072538
Gene: ENSMUSG00000001435
AA Change: G936E

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

probably damaging
Transcript: ENSMUST00000081654
AA Change: G477E

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

SMART Domains

Protein: ENSMUSP00000080358
Gene: ENSMUSG00000001435
AA Change: G477E

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

probably damaging
Transcript: ENSMUST00000105409
AA Change: G689E

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

SMART Domains

Protein: ENSMUSP00000101049
Gene: ENSMUSG00000001435
AA Change: G689E

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

probably benign
Transcript: ENSMUST00000156009

SMART Domains

Protein: ENSMUSP00000122580
Gene: ENSMUSG00000001435

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,021,019 (GRCm39)		probably null	Het
Ahnak2	C	T	12: 112,749,782 (GRCm39)		probably null	Het
Arhgef37	A	T	18: 61,640,267 (GRCm39)		probably null	Het
Asb14	T	C	14: 26,637,052 (GRCm39)	V598A	possibly damaging	Het
Baz1b	T	A	5: 135,216,532 (GRCm39)	F10Y	probably benign	Het
Bbc3	T	C	7: 16,047,660 (GRCm39)	V128A	probably benign	Het
C130073F10Rik	T	A	4: 101,747,946 (GRCm39)	Y76F	possibly damaging	Het
Cdc42bpa	G	A	1: 179,939,459 (GRCm39)		probably null	Het
Cfh	G	T	1: 140,030,275 (GRCm39)	P884Q	probably benign	Het
Cltc	T	C	11: 86,613,086 (GRCm39)	Y479C	probably damaging	Het
Col7a1	A	G	9: 108,786,360 (GRCm39)	N530S	unknown	Het
Csmd2	G	T	4: 128,438,561 (GRCm39)	G3047C		Het
Cyb5r3	C	A	15: 83,043,123 (GRCm39)	E190*	probably null	Het
Dnah3	A	T	7: 119,650,951 (GRCm39)	V983D	probably benign	Het
Fcer1a	T	G	1: 173,052,884 (GRCm39)	Y104S	possibly damaging	Het
Fer1l6	A	G	15: 58,429,759 (GRCm39)	T169A	possibly damaging	Het
Gimap9	A	T	6: 48,655,134 (GRCm39)	K240N	probably benign	Het
Gmeb1	A	C	4: 131,953,140 (GRCm39)	V542G	probably benign	Het
Grb10	C	A	11: 11,895,535 (GRCm39)	R318L	probably damaging	Het
Gucy1b1	T	A	3: 81,947,054 (GRCm39)	D385V	possibly damaging	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Il18r1	T	A	1: 40,528,793 (GRCm39)	I279K	probably benign	Het
Il21r	A	G	7: 125,232,027 (GRCm39)	D485G	probably damaging	Het
Jarid2	C	T	13: 45,068,253 (GRCm39)	R1092W	possibly damaging	Het
Kdm4b	T	C	17: 56,693,228 (GRCm39)	L355P	probably damaging	Het
Kif26a	C	T	12: 112,142,004 (GRCm39)	R753W	probably damaging	Het
Krtcap2	C	T	3: 89,154,178 (GRCm39)	T33I	probably damaging	Het
Mettl17	G	A	14: 52,129,009 (GRCm39)		probably null	Het
Mov10	A	G	3: 104,708,277 (GRCm39)	F491L		Het
Mterf1a	C	T	5: 3,941,807 (GRCm39)	W20*	probably null	Het
Nck2	T	C	1: 43,593,207 (GRCm39)	V138A	probably damaging	Het
Or2h2c	C	T	17: 37,422,509 (GRCm39)	V122M	possibly damaging	Het
Or5ac24	C	A	16: 59,165,368 (GRCm39)	G232V	probably damaging	Het
Or5ak24	A	C	2: 85,260,753 (GRCm39)	V140G	possibly damaging	Het
Or7e173	A	G	9: 19,939,216 (GRCm39)	V6A	probably benign	Het
Osmr	A	G	15: 6,882,027 (GRCm39)	V39A	probably damaging	Het
Plekhh2	A	G	17: 84,899,017 (GRCm39)	H998R	probably damaging	Het
Prb1a	G	A	6: 132,184,388 (GRCm39)	S415F	unknown	Het
Prl3d1	C	T	13: 27,280,470 (GRCm39)	T73I	probably benign	Het
Scgn	A	G	13: 24,137,921 (GRCm39)	L250P	probably damaging	Het
Scyl3	T	C	1: 163,779,773 (GRCm39)	I580T	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Shank2	A	T	7: 143,585,041 (GRCm39)	Q14L	probably benign	Het
Slc22a12	T	A	19: 6,587,686 (GRCm39)	N423Y	probably damaging	Het
Tenm4	T	A	7: 96,473,056 (GRCm39)	S951T	probably benign	Het
Ubash3b	G	A	9: 40,954,926 (GRCm39)	P195S	probably damaging	Het
Vmn1r61	A	G	7: 5,613,498 (GRCm39)	F272S	probably damaging	Het
Zbtb41	A	T	1: 139,358,053 (GRCm39)	I454F	probably benign	Het
Zfp112	G	T	7: 23,826,108 (GRCm39)	C696F	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
R8479:Col18a1	UTSW	10	76,916,988 (GRCm39)	missense	unknown
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
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'- AGGTAGATCCTGCAAGAAACCTC -3'
(R):5'- TGGCTACACCCCATTGTCAC -3'

Sequencing Primer
(F):5'- GTAGATCCTGCAAGAAACCTCACATG -3'
(R):5'- CCCATTGTCACTGGGCATGTG -3'

Posted On

2022-08-09