Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02583:Col15a1'

299438

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: 0.072) question?

Stock #

IGL02583

Quality Score

Status

Chromosome

Chromosomal Location

47208161-47313167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47279866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 697 (V697A)

Ref Sequence

ENSEMBL: ENSMUSP00000099981 (fasta)

Gene Model

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

AlphaFold

O35206

PDB Structure

MURINE COLLAGEN ALPHA1(XV), ENDOSTATIN DOMAIN [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000082303
AA Change: V697A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: V697A

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
AA Change: V697A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: V697A

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	C	T	5: 26,684,717 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,392 (GRCm39)	D140E	possibly damaging	Het
Bod1l	C	T	5: 41,973,550 (GRCm39)		probably null	Het
Brms1	T	A	19: 5,096,206 (GRCm39)	V61D	probably damaging	Het
Card11	A	T	5: 140,863,881 (GRCm39)	N952K	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cimap2	A	T	4: 106,468,602 (GRCm39)		probably benign	Het
Col7a1	A	T	9: 108,791,297 (GRCm39)	I1118F	unknown	Het
Cyfip2	T	C	11: 46,140,585 (GRCm39)	E746G	possibly damaging	Het
Dach1	A	G	14: 98,065,830 (GRCm39)		probably benign	Het
Dock11	G	T	X: 35,270,370 (GRCm39)	G1023W	possibly damaging	Het
Fbxo10	T	C	4: 45,044,754 (GRCm39)	D453G	probably damaging	Het
Fhad1	T	C	4: 141,738,955 (GRCm39)		probably benign	Het
Gm17415	A	G	1: 93,349,801 (GRCm39)		probably benign	Het
Gm4781	A	T	10: 100,232,507 (GRCm39)		noncoding transcript	Het
Gpatch2	A	C	1: 186,965,514 (GRCm39)		probably null	Het
Gpatch2	G	T	1: 186,965,515 (GRCm39)		probably null	Het
Greb1	A	G	12: 16,756,296 (GRCm39)		probably benign	Het
Greb1l	A	G	18: 10,542,362 (GRCm39)	Y1319C	probably damaging	Het
Ice1	C	T	13: 70,753,854 (GRCm39)	R744H	possibly damaging	Het
Kcnq2	T	A	2: 180,723,295 (GRCm39)	S694C	probably benign	Het
Krt35	C	A	11: 99,983,360 (GRCm39)	V448L	possibly damaging	Het
Lmo7	A	G	14: 102,171,360 (GRCm39)		probably benign	Het
Megf8	T	C	7: 25,055,218 (GRCm39)	S1984P	probably benign	Het
Nlrp1a	T	C	11: 71,014,227 (GRCm39)	Q341R	probably benign	Het
Or1p1	T	A	11: 74,180,330 (GRCm39)	L286Q	probably damaging	Het
Or51a6	T	C	7: 102,603,918 (GRCm39)	T297A	possibly damaging	Het
Osr1	C	T	12: 9,629,675 (GRCm39)	H183Y	probably damaging	Het
Paf1	T	C	7: 28,095,596 (GRCm39)	V202A	probably damaging	Het
Pde10a	A	G	17: 9,200,462 (GRCm39)	K1071E	probably benign	Het
Pwp2	T	C	10: 78,016,917 (GRCm39)	R268G	probably benign	Het
Rwdd1	T	A	10: 33,877,669 (GRCm39)	K178*	probably null	Het
Scn10a	A	T	9: 119,520,506 (GRCm39)		probably benign	Het
Sema3g	A	G	14: 30,943,476 (GRCm39)		probably null	Het
Slc22a6	C	A	19: 8,600,980 (GRCm39)	A391E	possibly damaging	Het
Slc41a3	G	A	6: 90,621,153 (GRCm39)	G372S	probably damaging	Het
Sqor	G	T	2: 122,641,690 (GRCm39)	K3N	probably damaging	Het
Srl	T	C	16: 4,310,244 (GRCm39)	Q495R	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stxbp3	G	T	3: 108,708,187 (GRCm39)	D371E	probably damaging	Het
Tnfrsf19	C	A	14: 61,261,659 (GRCm39)	V47F	probably damaging	Het
Usp11	A	T	X: 20,584,284 (GRCm39)	E622V	probably benign	Het
Vmn1r52	T	A	6: 90,156,126 (GRCm39)	Y143*	probably null	Het
Zfp280d	A	G	9: 72,229,727 (GRCm39)		probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zmat1	T	C	X: 133,874,021 (GRCm39)	T457A	probably damaging	Het

Other mutations in Col15a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Col15a1	APN	4	47,208,450 (GRCm39)	missense	possibly damaging	0.86
IGL01561:Col15a1	APN	4	47,312,118 (GRCm39)	missense	possibly damaging	0.87
IGL01750:Col15a1	APN	4	47,303,897 (GRCm39)	missense	probably damaging	1.00
IGL02112:Col15a1	APN	4	47,253,985 (GRCm39)	splice site	probably benign
IGL02158:Col15a1	APN	4	47,300,606 (GRCm39)	splice site	probably null
IGL02268:Col15a1	APN	4	47,245,380 (GRCm39)	missense	probably damaging	0.99
IGL02325:Col15a1	APN	4	47,289,364 (GRCm39)	missense	probably damaging	1.00
IGL02699:Col15a1	APN	4	47,284,471 (GRCm39)	unclassified	probably benign
IGL03167:Col15a1	APN	4	47,282,635 (GRCm39)	missense	probably damaging	0.99
IGL03174:Col15a1	APN	4	47,282,666 (GRCm39)	missense	probably damaging	0.99
R0119:Col15a1	UTSW	4	47,262,950 (GRCm39)	missense	probably damaging	0.98
R0299:Col15a1	UTSW	4	47,262,950 (GRCm39)	missense	probably damaging	0.98
R0499:Col15a1	UTSW	4	47,262,950 (GRCm39)	missense	probably damaging	0.98
R0567:Col15a1	UTSW	4	47,293,231 (GRCm39)	missense	possibly damaging	0.89
R0607:Col15a1	UTSW	4	47,282,654 (GRCm39)	missense	probably damaging	0.99
R0992:Col15a1	UTSW	4	47,300,491 (GRCm39)	missense	probably damaging	0.96
R1165:Col15a1	UTSW	4	47,257,275 (GRCm39)	splice site	probably benign
R1191:Col15a1	UTSW	4	47,254,083 (GRCm39)	nonsense	probably null
R1852:Col15a1	UTSW	4	47,299,278 (GRCm39)	critical splice donor site	probably null
R2349:Col15a1	UTSW	4	47,306,742 (GRCm39)	missense	probably damaging	0.99
R2512:Col15a1	UTSW	4	47,245,868 (GRCm39)	missense	possibly damaging	0.95
R2517:Col15a1	UTSW	4	47,208,492 (GRCm39)	missense	probably damaging	0.98
R2895:Col15a1	UTSW	4	47,312,091 (GRCm39)	missense	possibly damaging	0.59
R3688:Col15a1	UTSW	4	47,258,689 (GRCm39)	missense	probably benign	0.00
R3848:Col15a1	UTSW	4	47,289,374 (GRCm39)	missense	possibly damaging	0.73
R4430:Col15a1	UTSW	4	47,245,705 (GRCm39)	missense	probably damaging	1.00
R4587:Col15a1	UTSW	4	47,257,184 (GRCm39)	missense	probably damaging	1.00
R4793:Col15a1	UTSW	4	47,262,997 (GRCm39)	missense	possibly damaging	0.83
R4812:Col15a1	UTSW	4	47,262,479 (GRCm39)	missense	possibly damaging	0.93
R4922:Col15a1	UTSW	4	47,258,719 (GRCm39)	missense	probably benign
R5233:Col15a1	UTSW	4	47,296,112 (GRCm39)	missense	possibly damaging	0.74
R5602:Col15a1	UTSW	4	47,312,087 (GRCm39)	missense	probably damaging	1.00
R5786:Col15a1	UTSW	4	47,280,865 (GRCm39)	missense	possibly damaging	0.84
R5910:Col15a1	UTSW	4	47,289,514 (GRCm39)	missense	probably damaging	1.00
R5921:Col15a1	UTSW	4	47,300,602 (GRCm39)	missense	probably damaging	0.99
R5974:Col15a1	UTSW	4	47,258,683 (GRCm39)	missense	probably benign	0.02
R5985:Col15a1	UTSW	4	47,284,507 (GRCm39)	missense	probably damaging	0.99
R6010:Col15a1	UTSW	4	47,245,630 (GRCm39)	missense	probably benign	0.03
R6720:Col15a1	UTSW	4	47,247,552 (GRCm39)	critical splice donor site	probably null
R6791:Col15a1	UTSW	4	47,300,518 (GRCm39)	missense	probably damaging	1.00
R6855:Col15a1	UTSW	4	47,245,544 (GRCm39)	missense	probably damaging	1.00
R6965:Col15a1	UTSW	4	47,247,533 (GRCm39)	missense	probably damaging	0.96
R7201:Col15a1	UTSW	4	47,307,752 (GRCm39)	missense	possibly damaging	0.92
R7261:Col15a1	UTSW	4	47,269,088 (GRCm39)	missense	probably benign	0.03
R7273:Col15a1	UTSW	4	47,284,467 (GRCm39)	splice site	probably null
R7413:Col15a1	UTSW	4	47,245,431 (GRCm39)	missense	possibly damaging	0.81
R7658:Col15a1	UTSW	4	47,245,591 (GRCm39)	missense	possibly damaging	0.46
R8032:Col15a1	UTSW	4	47,288,108 (GRCm39)	missense	unknown
R8075:Col15a1	UTSW	4	47,208,359 (GRCm39)	missense	probably benign	0.07
R8130:Col15a1	UTSW	4	47,312,196 (GRCm39)	missense	probably damaging	0.97
R8536:Col15a1	UTSW	4	47,208,536 (GRCm39)	critical splice donor site	probably null
R8873:Col15a1	UTSW	4	47,247,552 (GRCm39)	critical splice donor site	probably null
R8887:Col15a1	UTSW	4	47,287,091 (GRCm39)	missense	probably damaging	1.00
R9141:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9143:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9161:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9176:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9177:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9181:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9184:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9185:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9214:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9268:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9269:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9362:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9367:Col15a1	UTSW	4	47,245,603 (GRCm39)	missense	probably damaging	1.00
R9385:Col15a1	UTSW	4	47,300,473 (GRCm39)	nonsense	probably null
R9391:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9392:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9419:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9421:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9422:Col15a1	UTSW	4	47,293,364 (GRCm39)	critical splice acceptor site	probably null
R9426:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9427:Col15a1	UTSW	4	47,288,200 (GRCm39)	unclassified	probably benign
R9429:Col15a1	UTSW	4	47,310,439 (GRCm39)	missense	probably damaging	1.00
R9646:Col15a1	UTSW	4	47,257,187 (GRCm39)	missense	possibly damaging	0.73
R9747:Col15a1	UTSW	4	47,312,208 (GRCm39)	missense	probably damaging	1.00
Z1177:Col15a1	UTSW	4	47,245,807 (GRCm39)	missense	probably benign

Posted On

2015-04-16