Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Col15a1'

51004

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: 0.066) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

47208161-47313167 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 47208450 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 6 (T6P)

Ref Sequence

ENSEMBL: ENSMUSP00000080921 (fasta)

Gene Model

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

AlphaFold

O35206

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082303
AA Change: T6P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: T6P

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: T6P

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: T6P

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: ENSMUST00000153083

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Ube4b	A	G	4: 149,365,470	F412S	probably benign	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Col15a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL03167:Col15a1	APN	4	47282635	missense	probably damaging	0.99
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
R8873:Col15a1	UTSW	4	47247552	critical splice donor site	probably null
R8887:Col15a1	UTSW	4	47287091	missense	probably damaging	1.00
R9141:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9143:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9161:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9176:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9177:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9181:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9184:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9185:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9214:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9268:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9269:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9362:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9367:Col15a1	UTSW	4	47245603	missense	probably damaging	1.00
R9385:Col15a1	UTSW	4	47300473	nonsense	probably null
R9391:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9392:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9419:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9421:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9422:Col15a1	UTSW	4	47293364	critical splice acceptor site	probably null
R9426:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9427:Col15a1	UTSW	4	47288200	unclassified	probably benign
R9429:Col15a1	UTSW	4	47310439	missense	probably damaging	1.00
R9646:Col15a1	UTSW	4	47257187	missense	possibly damaging	0.73
R9747:Col15a1	UTSW	4	47312208	missense	probably damaging	1.00
Z1177:Col15a1	UTSW	4	47245807	missense	probably benign

Posted On

2013-06-21