Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03167:Col15a1'

411671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col15a1

Ensembl Gene

ENSMUSG00000028339

Gene Name

collagen, type XV, alpha 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

IGL03167

Quality Score

Status

Chromosome

Chromosomal Location

47208161-47313167 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47282635 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 771 (I771F)

Ref Sequence

ENSEMBL: ENSMUSP00000080921 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000082303
AA Change: I771F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: I771F

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: I793F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: I793F

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	C	6: 34,857,659	K921T	possibly damaging	Het
Agtpbp1	A	T	13: 59,532,080		probably benign	Het
Ankrd22	A	T	19: 34,165,774	M1K	probably null	Het
Ano5	G	A	7: 51,585,511	V698I	probably damaging	Het
Ccnh	A	G	13: 85,197,566		probably benign	Het
Dmrt1	T	C	19: 25,545,893	S203P	possibly damaging	Het
Exoc5	A	T	14: 49,051,345	V82E	probably damaging	Het
Ffar3	A	T	7: 30,855,355	V180E	probably damaging	Het
Fhad1	T	C	4: 141,972,797	S381G	probably benign	Het
Foxf1	C	A	8: 121,084,908	Y170*	probably null	Het
Glis1	A	G	4: 107,435,905	D75G	possibly damaging	Het
Gpr151	T	C	18: 42,578,374	H413R	probably benign	Het
Gtf3c1	T	C	7: 125,670,580		probably null	Het
Htt	T	A	5: 34,818,986	F711I	probably damaging	Het
Il1rapl1	A	G	X: 86,747,261	I691T	possibly damaging	Het
Iqgap2	T	C	13: 95,684,898	Y579C	probably benign	Het
Lingo3	A	G	10: 80,835,344	S251P	probably damaging	Het
Mbl1	T	A	14: 41,158,586	S144T	probably benign	Het
Musk	A	T	4: 58,366,821	R462W	possibly damaging	Het
Mynn	T	C	3: 30,609,042	L373P	probably damaging	Het
Myoz2	G	A	3: 123,006,490	R230*	probably null	Het
Nup35	A	G	2: 80,658,316		probably benign	Het
Olfr1032	T	A	2: 86,008,167	Y130*	probably null	Het
Olfr305	C	T	7: 86,363,920	C139Y	probably damaging	Het
Olfr710	A	G	7: 106,944,645	S119P	probably damaging	Het
Olfr987	C	T	2: 85,331,320	D193N	probably benign	Het
Pira2	A	T	7: 3,840,920	S618T	probably damaging	Het
Plch1	G	A	3: 63,722,744		probably benign	Het
Pparg	T	G	6: 115,473,227	F396V	probably damaging	Het
Scaper	T	C	9: 55,859,824	E441G	probably damaging	Het
Serpinb2	T	A	1: 107,522,755	C161S	probably benign	Het
Skint5	C	T	4: 113,893,850	E333K	unknown	Het
Slc22a8	C	T	19: 8,609,958	P461S	probably damaging	Het
Slc38a6	C	T	12: 73,350,537	Q318*	probably null	Het
Sycp2	T	C	2: 178,379,498	K512E	probably damaging	Het
Tas2r103	T	A	6: 133,036,660	N148Y	probably damaging	Het
Tcf7l1	A	G	6: 72,632,996	M257T	possibly damaging	Het
Tert	T	A	13: 73,640,000	N792K	probably damaging	Het
Thada	A	T	17: 84,458,849	V43E	probably damaging	Het
Trabd2b	T	C	4: 114,609,998	S475P	probably benign	Het
Vmn2r117	A	G	17: 23,477,707	V242A	probably damaging	Het
Ypel3	A	T	7: 126,780,075	I107F	probably damaging	Het
Zfp352	T	C	4: 90,224,702	S360P	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
IGL02699:Col15a1	APN	4	47284471	unclassified	probably benign
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
Z1177:Col15a1	UTSW	4	47245807	missense	probably benign

Posted On

2016-08-02