Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02217:Col18a1'

284934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col18a1

Ensembl Gene

ENSMUSG00000001435

Gene Name

collagen, type XVIII, alpha 1

Synonyms

endostatin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02217

Quality Score

Status

Chromosome

Chromosomal Location

76888013-77002351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76889132 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1494 (S1494P)

Ref Sequence

ENSEMBL: ENSMUSP00000101049 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072755] [ENSMUST00000081654] [ENSMUST00000105409] [ENSMUST00000105410] [ENSMUST00000144234]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072755
AA Change: S1741P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072538
Gene: ENSMUSG00000001435
AA Change: S1741P

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

possibly damaging
Transcript: ENSMUST00000081654
AA Change: S1282P

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080358
Gene: ENSMUSG00000001435
AA Change: S1282P

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: S1494P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101049
Gene: ENSMUSG00000001435
AA Change: S1494P

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: ENSMUST00000105410

SMART Domains

Protein: ENSMUSP00000101050
Gene: ENSMUSG00000001436

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	23	427	3e-167	PFAM
Pfam:MFS_1	66	406	2.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131031

SMART Domains

Protein: ENSMUSP00000114884
Gene: ENSMUSG00000001436

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	1	112	1.3e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144234

SMART Domains

Protein: ENSMUSP00000116784
Gene: ENSMUSG00000001436

Domain	Start	End	E-Value	Type
Pfam:Folate_carrier	23	427	3e-167	PFAM
Pfam:MFS_1	66	406	2.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218407

Coding Region Coverage

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
2700062C07Rik	C	A	18: 24,603,955 (GRCm39)		probably benign	Het
Actn1	G	A	12: 80,220,868 (GRCm39)	Q647*	probably null	Het
Adamts6	T	A	13: 104,598,873 (GRCm39)		probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cabin1	G	A	10: 75,535,881 (GRCm39)	T1389I	possibly damaging	Het
Cenpc1	A	G	5: 86,177,059 (GRCm39)		probably benign	Het
Clca4a	T	A	3: 144,667,757 (GRCm39)	T405S	possibly damaging	Het
Cntln	G	A	4: 85,018,495 (GRCm39)	V1168M	probably damaging	Het
Cps1	A	T	1: 67,213,541 (GRCm39)	T758S	probably benign	Het
Cul3	A	T	1: 80,261,484 (GRCm39)	M247K	probably damaging	Het
Cyp3a57	A	G	5: 145,305,953 (GRCm39)		probably null	Het
Dennd4c	T	A	4: 86,732,036 (GRCm39)	C917S	probably benign	Het
Dhrs11	A	T	11: 84,713,221 (GRCm39)	Y166*	probably null	Het
Dtl	A	G	1: 191,300,426 (GRCm39)	V146A	probably damaging	Het
Exosc9	A	G	3: 36,606,893 (GRCm39)	E20G	probably damaging	Het
Fer	A	G	17: 64,445,960 (GRCm39)	K437R	probably benign	Het
Fkbp6	A	T	5: 135,366,484 (GRCm39)	V284E	probably benign	Het
Foxq1	A	T	13: 31,743,152 (GRCm39)	S85C	probably damaging	Het
Galnt12	T	A	4: 47,113,832 (GRCm39)	S83R	probably damaging	Het
Gpr156	A	G	16: 37,825,673 (GRCm39)	D630G	probably benign	Het
Hace1	A	T	10: 45,466,471 (GRCm39)		probably null	Het
Hemgn	G	T	4: 46,396,420 (GRCm39)	T272K	probably damaging	Het
Ifi213	T	G	1: 173,422,598 (GRCm39)	E89A	possibly damaging	Het
Jarid2	A	G	13: 45,066,677 (GRCm39)	E954G	probably damaging	Het
Kcnu1	A	G	8: 26,348,212 (GRCm39)	D126G	probably damaging	Het
Lbh	A	T	17: 73,228,247 (GRCm39)	I31F	possibly damaging	Het
Lrrc37	T	C	11: 103,503,697 (GRCm39)		probably benign	Het
Mdfic2	T	A	6: 98,225,033 (GRCm39)	E83D	possibly damaging	Het
Muc6	T	C	7: 141,235,889 (GRCm39)	E490G	probably damaging	Het
Ncoa3	T	C	2: 165,897,266 (GRCm39)	S686P	probably damaging	Het
Nme4	A	G	17: 26,312,834 (GRCm39)	M108T	probably damaging	Het
Nod1	A	C	6: 54,920,404 (GRCm39)	V638G	possibly damaging	Het
Nrip2	A	G	6: 128,383,502 (GRCm39)	N70S	probably damaging	Het
Or2bd2	T	A	7: 6,443,244 (GRCm39)	I115N	probably damaging	Het
Or5as1	A	G	2: 86,980,231 (GRCm39)	M258T	probably benign	Het
Pitrm1	G	A	13: 6,617,377 (GRCm39)		probably benign	Het
Proser1	A	G	3: 53,378,912 (GRCm39)	K115E	probably damaging	Het
Ptov1	C	T	7: 44,516,900 (GRCm39)	G70R	probably damaging	Het
Qtrt1	T	G	9: 21,328,685 (GRCm39)		probably null	Het
Rbbp8nl	A	G	2: 179,919,981 (GRCm39)		probably benign	Het
Rplp1rt	A	T	19: 12,824,227 (GRCm39)		noncoding transcript	Het
Rtn3	G	A	19: 7,412,449 (GRCm39)	T794I	probably damaging	Het
Setd4	A	G	16: 93,390,183 (GRCm39)	L82P	probably damaging	Het
Shank2	C	T	7: 143,838,784 (GRCm39)	L27F	possibly damaging	Het
Srpk2	A	C	5: 23,750,568 (GRCm39)	V45G	probably damaging	Het
Utrn	A	G	10: 12,627,303 (GRCm39)	F57S	probably damaging	Het
Vcan	T	G	13: 89,851,196 (GRCm39)	T1255P	probably damaging	Het
Vmn2r16	A	C	5: 109,487,676 (GRCm39)	H183P	probably damaging	Het
Wdr48	T	C	9: 119,738,601 (GRCm39)	I286T	probably benign	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
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
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

Posted On

2015-04-16