Mutagenetix > Incidental Mutation

Incidental Mutation 'R8873:Col15a1'

676410

Institutional Source

Beutler Lab

Gene Symbol

Col15a1

Ensembl Gene

ENSMUSG00000028339

Gene Name

collagen, type XV, alpha 1

Synonyms

MMRRC Submission

068686-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8873 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47208161-47313167 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 47247552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

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 null
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (42/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	A	11: 77,406,577 (GRCm39)	R185S	probably damaging	Het
Aoah	A	G	13: 21,089,852 (GRCm39)	N157D	probably benign	Het
Arhgap35	T	C	7: 16,295,415 (GRCm39)	N1217D	possibly damaging	Het
Asah2	A	T	19: 32,022,288 (GRCm39)		probably null	Het
Asb2	T	C	12: 103,299,725 (GRCm39)	N236D	probably damaging	Het
Auts2	A	G	5: 131,472,502 (GRCm39)	F317L		Het
Cfap74	T	C	4: 155,539,465 (GRCm39)	I930T	unknown	Het
Cmip	T	C	8: 118,103,929 (GRCm39)	V51A	probably damaging	Het
Cstf3	A	T	2: 104,475,355 (GRCm39)	H97L	possibly damaging	Het
Dip2c	A	T	13: 9,625,182 (GRCm39)	M559L	probably benign	Het
Dnah5	A	G	15: 28,219,334 (GRCm39)	N51D	probably benign	Het
Dock4	T	A	12: 40,726,767 (GRCm39)	Y348*	probably null	Het
Ehhadh	C	T	16: 21,581,598 (GRCm39)	G465R	probably damaging	Het
Fam110b	C	T	4: 5,799,103 (GRCm39)	Q174*	probably null	Het
Fam124a	A	G	14: 62,844,024 (GRCm39)	T511A	probably benign	Het
Fbxl17	A	G	17: 63,691,971 (GRCm39)	V528A	probably damaging	Het
Fbxw24	C	A	9: 109,453,996 (GRCm39)	W50L	probably damaging	Het
Fyb2	A	T	4: 104,856,538 (GRCm39)	E582V	probably damaging	Het
Ganab	G	A	19: 8,888,243 (GRCm39)	W463*	probably null	Het
Gm11569	G	T	11: 99,689,210 (GRCm39)	T163N	unknown	Het
Gm8237	G	T	14: 5,862,453 (GRCm38)	Y86*	probably null	Het
Hrh4	T	A	18: 13,140,195 (GRCm39)	M30K		Het
Ifi209	A	G	1: 173,470,156 (GRCm39)	Y248C	probably damaging	Het
Jazf1	T	A	6: 52,789,165 (GRCm39)	H103L	probably damaging	Het
Ltbp1	A	G	17: 75,486,172 (GRCm39)	T66A	probably damaging	Het
Ndufa4	A	G	6: 11,907,360 (GRCm39)	L2P	probably benign	Het
Npnt	G	A	3: 132,655,816 (GRCm39)		probably benign	Het
Nrxn1	G	T	17: 90,872,821 (GRCm39)	C1052*	probably null	Het
Nsmce4a	G	T	7: 130,148,886 (GRCm39)	A40E	unknown	Het
Or2t6	A	T	14: 14,175,344 (GRCm38)	V246E	probably damaging	Het
Pcdhgb2	T	C	18: 37,824,341 (GRCm39)	V444A	probably damaging	Het
Pcdhgb7	C	T	18: 37,886,575 (GRCm39)	P582S	possibly damaging	Het
Phf3	T	C	1: 30,843,773 (GRCm39)	T1729A	possibly damaging	Het
Plod2	T	A	9: 92,489,112 (GRCm39)		probably benign	Het
Pramel15	G	T	4: 144,099,871 (GRCm39)	A298E	probably benign	Het
Rbm20	G	T	19: 53,665,911 (GRCm39)	V25F	probably benign	Het
Recql	G	T	6: 142,308,013 (GRCm39)	Q53K		Het
Rps18-ps6	T	A	13: 97,896,843 (GRCm39)	N85I	probably damaging	Het
Rtel1	CAAA	CAA	2: 180,997,816 (GRCm39)		probably null	Het
Serpine2	A	G	1: 79,799,267 (GRCm39)		probably benign	Het
Siglecg	A	G	7: 43,067,448 (GRCm39)	T672A	probably benign	Het
Skil	T	C	3: 31,152,075 (GRCm39)	L199P	probably damaging	Het
Tmprss11f	C	T	5: 86,692,733 (GRCm39)	A64T	probably damaging	Het
Ttc3	C	T	16: 94,243,842 (GRCm39)	T1282M	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
IGL02583:Col15a1	APN	4	47,279,866 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CAGGCTGGTTCTTTGCAATG -3'
(R):5'- CACTCCAAGGAGATGGCTGAAG -3'

Sequencing Primer
(F):5'- AATGTCCTCGCTCGCCG -3'
(R):5'- CAAAAGCCCAAAATAGGACTTGG -3'

Posted On

2021-07-15