Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01750:Col15a1'

153103

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: 0.082) question?

Stock #

IGL01750

Quality Score

Status

Chromosome

Chromosomal Location

47208161-47313167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47303897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1101 (P1101S)

Ref Sequence

ENSEMBL: ENSMUSP00000099981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082303] [ENSMUST00000102917] [ENSMUST00000107730] [ENSMUST00000107731] [ENSMUST00000146967]

AlphaFold

O35206

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000082303
AA Change: P1079S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: P1079S

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 damaging
Transcript: ENSMUST00000102917
AA Change: P1101S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: P1101S

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

unknown
Transcript: ENSMUST00000107730
AA Change: P12S

SMART Domains

Protein: ENSMUSP00000103358
Gene: ENSMUSG00000028339
AA Change: P12S

Domain	Start	End	E-Value	Type
Pfam:Endostatin	20	100	8.7e-16	PFAM
Pfam:Endostatin	83	278	5.7e-99	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107731
AA Change: P267S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103359
Gene: ENSMUSG00000028339
AA Change: P267S

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: 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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,742,030 (GRCm39)	R616G	probably damaging	Het
Cacna1b	G	A	2: 24,544,407 (GRCm39)	P1260S	probably damaging	Het
Ccz1	A	T	5: 143,940,880 (GRCm39)	Y225N	probably damaging	Het
Cyp2d22	T	A	15: 82,258,570 (GRCm39)	H97L	probably benign	Het
Emsy	G	A	7: 98,268,508 (GRCm39)	S511F	probably damaging	Het
Fnbp1l	G	T	3: 122,338,326 (GRCm39)	Y351*	probably null	Het
Gm5263	T	G	1: 146,296,302 (GRCm39)		noncoding transcript	Het
Hook2	T	C	8: 85,719,865 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,145,777 (GRCm39)		probably benign	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Kmt2d	G	A	15: 98,751,049 (GRCm39)		probably benign	Het
Lpin1	T	C	12: 16,627,177 (GRCm39)	N123S	probably benign	Het
Man2c1	T	C	9: 57,048,064 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,922,465 (GRCm39)	E6558G	probably damaging	Het
Or2j6	T	C	7: 139,980,570 (GRCm39)	T130A	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or8b48	C	T	9: 38,492,809 (GRCm39)	P79S	probably damaging	Het
Pcdh7	A	G	5: 57,877,764 (GRCm39)	T440A	probably damaging	Het
Pitx1	A	G	13: 55,974,304 (GRCm39)	Y176H	probably damaging	Het
Plec	A	G	15: 76,057,589 (GRCm39)	V4116A	probably damaging	Het
Polrmt	A	G	10: 79,575,680 (GRCm39)	V617A	possibly damaging	Het
Pprc1	T	C	19: 46,060,268 (GRCm39)		probably benign	Het
Rbm19	G	A	5: 120,256,857 (GRCm39)	A57T	probably benign	Het
Rin1	T	C	19: 5,102,064 (GRCm39)	I134T	possibly damaging	Het
Thumpd2	G	A	17: 81,361,815 (GRCm39)	A137V	probably benign	Het
Tle4	T	C	19: 14,427,153 (GRCm39)	Y756C	probably damaging	Het
Tln1	A	G	4: 43,545,435 (GRCm39)	L986P	probably damaging	Het
Tmem132c	C	A	5: 127,540,023 (GRCm39)	Q350K	possibly damaging	Het
Zfp474	A	G	18: 52,772,349 (GRCm39)	N334S	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
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
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

2014-02-04