Mutagenetix > Incidental Mutation

Incidental Mutation 'R1191:Col15a1'

100783

Institutional Source

Beutler Lab

Gene Symbol

Col15a1

Ensembl Gene

ENSMUSG00000028339

Gene Name

collagen, type XV, alpha 1

Synonyms

MMRRC Submission

039263-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47208161-47313167 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 47254083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 300 (G300*)

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 null
Transcript: ENSMUST00000082303
AA Change: G300*

SMART Domains

Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: G300*

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
AA Change: G300*

SMART Domains

Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: G300*

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

noncoding transcript
Transcript: ENSMUST00000140094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148103

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.1%
20x: 87.9%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd27	T	C	7: 35,301,912 (GRCm39)	F144L	probably damaging	Het
C8b	C	T	4: 104,650,520 (GRCm39)	P377S	probably damaging	Het
Cfi	C	A	3: 129,662,176 (GRCm39)	T385N	probably benign	Het
Crlf1	G	A	8: 70,951,478 (GRCm39)	C119Y	probably damaging	Het
Dcaf4	A	T	12: 83,582,741 (GRCm39)	S279C	probably damaging	Het
Gde1	A	T	7: 118,304,664 (GRCm39)	H70Q	probably damaging	Het
Gpt2	A	T	8: 86,235,901 (GRCm39)	N179I	probably damaging	Het
Grik5	G	A	7: 24,757,750 (GRCm39)	Q410*	probably null	Het
Hspa2	C	T	12: 76,452,655 (GRCm39)	R450W	probably damaging	Het
Idh3b	A	T	2: 130,123,810 (GRCm39)	M118K	probably benign	Het
Ighv5-21	T	C	12: 114,286,423 (GRCm39)		probably benign	Het
Il12rb2	C	T	6: 67,275,200 (GRCm39)	V642M	possibly damaging	Het
Iqcg	A	G	16: 32,870,313 (GRCm39)	V60A	probably benign	Het
Irx6	T	A	8: 93,403,580 (GRCm39)	Y102N	probably damaging	Het
Itgb6	C	T	2: 60,483,481 (GRCm39)		probably null	Het
Mmp27	A	T	9: 7,579,067 (GRCm39)		probably null	Het
Or10d5j	A	T	9: 39,868,264 (GRCm39)	M1K	probably null	Het
Or1j21	T	A	2: 36,683,350 (GRCm39)	M34K	probably damaging	Het
Or2f2	C	A	6: 42,767,451 (GRCm39)	H159Q	probably benign	Het
Or5k8	T	A	16: 58,644,922 (GRCm39)	Y50F	probably benign	Het
Or8c8	G	T	9: 38,165,501 (GRCm39)	V263F	probably damaging	Het
Pcdhb16	A	G	18: 37,612,926 (GRCm39)	R629G	probably damaging	Het
Pde3b	A	T	7: 114,118,810 (GRCm39)	M650L	probably benign	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Skint3	T	A	4: 112,092,939 (GRCm39)	M1K	probably null	Het
Strn	T	C	17: 78,999,855 (GRCm39)	Q127R	possibly damaging	Het
Taar2	T	G	10: 23,816,927 (GRCm39)	W156G	probably damaging	Het
Trpt1	G	T	19: 6,974,138 (GRCm39)	M45I	probably benign	Het
Ubap2l	T	C	3: 89,930,882 (GRCm39)	T357A	probably damaging	Het
Ubr3	C	T	2: 69,851,525 (GRCm39)	R1831*	probably null	Het
Unc79	T	A	12: 103,013,271 (GRCm39)	Y287*	probably null	Het
Utrn	T	A	10: 12,509,777 (GRCm39)	K2398N	probably benign	Het
Vav2	A	T	2: 27,182,792 (GRCm39)		probably null	Het
Vps9d1	A	T	8: 123,974,706 (GRCm39)	H249Q	possibly damaging	Het
Vwf	T	A	6: 125,576,215 (GRCm39)	C432S	probably damaging	Het
Zfp369	T	A	13: 65,439,776 (GRCm39)	Y153*	probably null	Het
Zfp760	C	T	17: 21,942,286 (GRCm39)	P487L	probably damaging	Het
Zswim2	A	C	2: 83,754,039 (GRCm39)	V207G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AGACACGGCCAATGTAGGCATTC -3'
(R):5'- TGTACACACTCGGCACACAGTAGG -3'

Sequencing Primer
(F):5'- CCAATGTAGGCATTCGGGATTATTC -3'
(R):5'- ggggctacctgatttctctg -3'

Posted On

2014-01-15