Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02699:Col15a1'

304081

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col15a1

Ensembl Gene

ENSMUSG00000028339

Gene Name

collagen, type XV, alpha 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

IGL02699

Quality Score

Status

Chromosome

Chromosomal Location

47208161-47313167 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 47284471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082303] [ENSMUST00000102917] [ENSMUST00000107731] [ENSMUST00000140413] [ENSMUST00000146967]

AlphaFold

O35206

Predicted Effect

probably benign
Transcript: ENSMUST00000082303

SMART Domains

Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
TSPN	40	228	2.53e-56	SMART
LamG	89	227	1.7e-7	SMART
low complexity region	236	251	N/A	INTRINSIC
low complexity region	332	344	N/A	INTRINSIC
low complexity region	541	567	N/A	INTRINSIC
Pfam:Collagen	603	663	1.4e-10	PFAM
Pfam:Collagen	650	719	2.1e-9	PFAM
low complexity region	722	742	N/A	INTRINSIC
low complexity region	750	759	N/A	INTRINSIC
Pfam:Collagen	782	832	2.7e-10	PFAM
Pfam:Collagen	838	894	5.1e-10	PFAM
low complexity region	965	980	N/A	INTRINSIC
low complexity region	1010	1020	N/A	INTRINSIC
Pfam:Endostatin	1087	1164	9.3e-15	PFAM
Pfam:Endostatin	1148	1345	1.4e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102917

SMART Domains

Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
TSPN	40	228	2.53e-56	SMART
LamG	89	227	1.7e-7	SMART
low complexity region	236	251	N/A	INTRINSIC
low complexity region	332	344	N/A	INTRINSIC
low complexity region	541	567	N/A	INTRINSIC
Pfam:Collagen	603	666	5.6e-10	PFAM
Pfam:Collagen	659	720	3.1e-10	PFAM
low complexity region	737	764	N/A	INTRINSIC
low complexity region	772	781	N/A	INTRINSIC
Pfam:Collagen	804	854	9.5e-10	PFAM
Pfam:Collagen	860	916	1.8e-9	PFAM
low complexity region	987	1002	N/A	INTRINSIC
low complexity region	1032	1042	N/A	INTRINSIC
low complexity region	1050	1109	N/A	INTRINSIC
Pfam:Endostatin	1112	1362	2.8e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107731

SMART Domains

Protein: ENSMUSP00000103359
Gene: ENSMUSG00000028339

Domain	Start	End	E-Value	Type
Pfam:Collagen	6	81	6.5e-9	PFAM
Pfam:Collagen	48	102	3.8e-8	PFAM
low complexity region	153	168	N/A	INTRINSIC
Pfam:Collagen	196	258	4.1e-8	PFAM
Pfam:Endostatin	275	355	2.5e-15	PFAM
Pfam:Endostatin	336	533	2.8e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140413

SMART Domains

Protein: ENSMUSP00000119292
Gene: ENSMUSG00000028339

Domain	Start	End	E-Value	Type
Pfam:Collagen	27	121	7.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000146967

SMART Domains

Protein: ENSMUSP00000118637
Gene: ENSMUSG00000028339

Domain	Start	End	E-Value	Type
Pfam:Collagen	2	55	6.3e-11	PFAM
Pfam:Collagen	96	141	2.9e-7	PFAM

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 XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutation of this gene results in abnormal muscle cells of variable size (including atrophic and split muscle cells), susceptibility to exercise-induced muscle injury, and abnormalities in heart and skeletal muscle capillary endothelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,322,019	D198G	probably benign	Het
Casq1	T	C	1: 172,219,696		probably benign	Het
Cd109	T	A	9: 78,671,989		probably benign	Het
Ctdp1	T	C	18: 80,450,185	D365G	probably benign	Het
Daam1	T	C	12: 71,988,943	F971L	probably damaging	Het
Dalrd3	T	A	9: 108,570,889		probably benign	Het
Dnaaf5	T	C	5: 139,153,350		probably benign	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fbxo8	A	G	8: 56,590,188	T236A	possibly damaging	Het
Ighv1-12	C	A	12: 114,616,116	E29*	probably null	Het
Il17re	A	G	6: 113,468,919	D397G	probably damaging	Het
Ing5	A	G	1: 93,816,442	N157D	possibly damaging	Het
Ipo11	T	C	13: 106,889,397	E395G	possibly damaging	Het
Letm1	T	C	5: 33,745,148	E599G	possibly damaging	Het
Mansc1	T	C	6: 134,610,354	T287A	probably benign	Het
Med1	T	C	11: 98,180,025	N131D	possibly damaging	Het
Olfr1085	A	T	2: 86,658,347	I37N	probably benign	Het
Olfr1337	G	T	4: 118,782,152	C144*	probably null	Het
Olfr1341	T	C	4: 118,710,198	S264P	probably benign	Het
Olfr769	T	G	10: 129,111,771	Y218S	probably benign	Het
Osm	T	C	11: 4,239,723	V169A	possibly damaging	Het
Phkg2	C	T	7: 127,582,550	A278V	probably benign	Het
Plod2	T	A	9: 92,607,142	M709K	probably damaging	Het
Pzp	A	T	6: 128,487,401		probably null	Het
Ric1	T	C	19: 29,522,557	L12P	possibly damaging	Het
Skor1	C	A	9: 63,140,046		probably benign	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Syncrip	A	G	9: 88,456,554		probably benign	Het
Tex2	T	C	11: 106,568,433	E57G	possibly damaging	Het
Tmc1	C	T	19: 20,832,350		probably null	Het
Tmem59	T	C	4: 107,192,538	M140T	probably benign	Het
Ttn	T	C	2: 76,944,089	T2158A	probably damaging	Het

Other mutations in Col15a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Col15a1	APN	4	47208450	missense	possibly damaging	0.86
IGL01561:Col15a1	APN	4	47312118	missense	possibly damaging	0.87
IGL01750:Col15a1	APN	4	47303897	missense	probably damaging	1.00
IGL02112:Col15a1	APN	4	47253985	splice site	probably benign
IGL02158:Col15a1	APN	4	47300606	splice site	probably null
IGL02268:Col15a1	APN	4	47245380	missense	probably damaging	0.99
IGL02325:Col15a1	APN	4	47289364	missense	probably damaging	1.00
IGL02583:Col15a1	APN	4	47279866	missense	probably benign	0.00
IGL03167:Col15a1	APN	4	47282635	missense	probably damaging	0.99
IGL03174:Col15a1	APN	4	47282666	missense	probably damaging	0.99
R0119:Col15a1	UTSW	4	47262950	missense	probably damaging	0.98
R0299:Col15a1	UTSW	4	47262950	missense	probably damaging	0.98
R0499:Col15a1	UTSW	4	47262950	missense	probably damaging	0.98
R0567:Col15a1	UTSW	4	47293231	missense	possibly damaging	0.89
R0607:Col15a1	UTSW	4	47282654	missense	probably damaging	0.99
R0992:Col15a1	UTSW	4	47300491	missense	probably damaging	0.96
R1165:Col15a1	UTSW	4	47257275	splice site	probably benign
R1191:Col15a1	UTSW	4	47254083	nonsense	probably null
R1852:Col15a1	UTSW	4	47299278	critical splice donor site	probably null
R2349:Col15a1	UTSW	4	47306742	missense	probably damaging	0.99
R2512:Col15a1	UTSW	4	47245868	missense	possibly damaging	0.95
R2517:Col15a1	UTSW	4	47208492	missense	probably damaging	0.98
R2895:Col15a1	UTSW	4	47312091	missense	possibly damaging	0.59
R3688:Col15a1	UTSW	4	47258689	missense	probably benign	0.00
R3848:Col15a1	UTSW	4	47289374	missense	possibly damaging	0.73
R4430:Col15a1	UTSW	4	47245705	missense	probably damaging	1.00
R4587:Col15a1	UTSW	4	47257184	missense	probably damaging	1.00
R4793:Col15a1	UTSW	4	47262997	missense	possibly damaging	0.83
R4812:Col15a1	UTSW	4	47262479	missense	possibly damaging	0.93
R4922:Col15a1	UTSW	4	47258719	missense	probably benign
R5233:Col15a1	UTSW	4	47296112	missense	possibly damaging	0.74
R5602:Col15a1	UTSW	4	47312087	missense	probably damaging	1.00
R5786:Col15a1	UTSW	4	47280865	missense	possibly damaging	0.84
R5910:Col15a1	UTSW	4	47289514	missense	probably damaging	1.00
R5921:Col15a1	UTSW	4	47300602	missense	probably damaging	0.99
R5974:Col15a1	UTSW	4	47258683	missense	probably benign	0.02
R5985:Col15a1	UTSW	4	47284507	missense	probably damaging	0.99
R6010:Col15a1	UTSW	4	47245630	missense	probably benign	0.03
R6720:Col15a1	UTSW	4	47247552	critical splice donor site	probably null
R6791:Col15a1	UTSW	4	47300518	missense	probably damaging	1.00
R6855:Col15a1	UTSW	4	47245544	missense	probably damaging	1.00
R6965:Col15a1	UTSW	4	47247533	missense	probably damaging	0.96
R7201:Col15a1	UTSW	4	47307752	missense	possibly damaging	0.92
R7261:Col15a1	UTSW	4	47269088	missense	probably benign	0.03
R7273:Col15a1	UTSW	4	47284467	splice site	probably null
R7413:Col15a1	UTSW	4	47245431	missense	possibly damaging	0.81
R7658:Col15a1	UTSW	4	47245591	missense	possibly damaging	0.46
R8032:Col15a1	UTSW	4	47288108	missense	unknown
R8075:Col15a1	UTSW	4	47208359	missense	probably benign	0.07
R8130:Col15a1	UTSW	4	47312196	missense	probably damaging	0.97
R8536:Col15a1	UTSW	4	47208536	critical splice donor site	probably null
R8873:Col15a1	UTSW	4	47247552	critical splice donor site	probably null
R8887:Col15a1	UTSW	4	47287091	missense	probably damaging	1.00
R9141:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9143:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9161:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9176:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9177:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9181:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9184:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9185:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9214:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9268:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9269:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9362:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9367:Col15a1	UTSW	4	47245603	missense	probably damaging	1.00
R9385:Col15a1	UTSW	4	47300473	nonsense	probably null
R9391:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9392:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9419:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9421:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9422:Col15a1	UTSW	4	47293364	critical splice acceptor site	probably null
R9426:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9427:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9429:Col15a1	UTSW	4	47310439	missense	probably damaging	1.00
R9646:Col15a1	UTSW	4	47257187	missense	possibly damaging	0.73
R9747:Col15a1	UTSW	4	47312208	missense	probably damaging	1.00
Z1177:Col15a1	UTSW	4	47245807	missense	probably benign

Posted On

2015-04-16