Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Col5a3'

93242

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col5a3

Ensembl Gene

ENSMUSG00000004098

Gene Name

collagen, type V, alpha 3

Synonyms

Pro-alpha3(V)

Accession Numbers

Ncbi RefSeq: NM_016919.2; MGI:1858212

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

20770050-20815067 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 20803000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000004201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004201]

AlphaFold

Q9JLI2

Predicted Effect

probably benign
Transcript: ENSMUST00000004201

SMART Domains

Protein: ENSMUSP00000004201
Gene: ENSMUSG00000004098

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TSPN	32	211	7.08e-28	SMART
LamG	89	210	2.13e-2	SMART
low complexity region	247	267	N/A	INTRINSIC
low complexity region	295	314	N/A	INTRINSIC
low complexity region	341	347	N/A	INTRINSIC
low complexity region	369	381	N/A	INTRINSIC
low complexity region	391	434	N/A	INTRINSIC
low complexity region	461	474	N/A	INTRINSIC
Pfam:Collagen	475	538	5.5e-10	PFAM
low complexity region	597	616	N/A	INTRINSIC
low complexity region	628	694	N/A	INTRINSIC
internal_repeat_3	703	737	7.13e-16	PROSPERO
low complexity region	742	821	N/A	INTRINSIC
low complexity region	823	844	N/A	INTRINSIC
low complexity region	859	889	N/A	INTRINSIC
internal_repeat_2	892	1081	5.05e-17	PROSPERO
internal_repeat_1	996	1133	7.47e-22	PROSPERO
internal_repeat_3	1105	1139	7.13e-16	PROSPERO
low complexity region	1140	1165	N/A	INTRINSIC
low complexity region	1168	1255	N/A	INTRINSIC
low complexity region	1258	1282	N/A	INTRINSIC
low complexity region	1285	1306	N/A	INTRINSIC
low complexity region	1311	1418	N/A	INTRINSIC
Pfam:Collagen	1429	1491	9.5e-10	PFAM
COLFI	1508	1738	7.98e-92	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157103

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 5000519
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show decreased pancreatic beta cell mass, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, insulin resistance and impaired glucose uptake. Homozygous females show decreased susceptibility to diet-induced obesity and a thin hypodermal fat layer. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,814,259	N110D	probably damaging	Het
Acot3	C	T	12: 84,057,089	T224I	probably benign	Het
Adamts18	C	T	8: 113,764,299	G512E	probably damaging	Het
Atp4b	A	G	8: 13,389,679	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,163,346	I230V	probably benign	Het
Cenpj	C	A	14: 56,532,319	V1138L	probably benign	Het
Cep78	A	G	19: 15,981,200		probably benign	Het
Clec2j	T	A	6: 128,655,978		noncoding transcript	Het
Cpne6	A	T	14: 55,512,726	T105S	probably damaging	Het
Csmd1	A	T	8: 16,288,646	Y482*	probably null	Het
Ctrl	C	A	8: 105,933,258		probably benign	Het
Dhcr24	T	A	4: 106,573,871	C252*	probably null	Het
Dnah17	G	A	11: 118,098,612	P1261S	probably benign	Het
Dnaic2	T	C	11: 114,752,942	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,831,405	S191A	probably damaging	Het
Fam205c	T	C	4: 42,868,564	E353G	probably benign	Het
Fat4	G	A	3: 39,009,257	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,887,758	S267P	probably damaging	Het
Frrs1	T	C	3: 116,885,185	C219R	probably damaging	Het
Gabra6	T	A	11: 42,317,023	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,798,408	C242*	probably null	Het
Gm2840	G	A	5: 96,174,277		noncoding transcript	Het
Gm6614	A	G	6: 141,992,512	I227T	possibly damaging	Het
Gm8765	A	G	13: 50,700,378	T91A	probably benign	Het
Gmcl1p1	G	A	X: 3,078,226	G423S	probably benign	Het
Golim4	C	T	3: 75,908,125		probably null	Het
Gucy1b1	G	T	3: 82,034,862	T530K	probably damaging	Het
Hacl1	A	T	14: 31,640,596	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,364,660	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,942,779	I26T	probably damaging	Het
Hspa1l	G	A	17: 34,978,391	A469T	probably damaging	Het
Htra3	T	A	5: 35,664,076		probably null	Het
Lrrc28	C	A	7: 67,628,294		probably null	Het
Mfhas1	T	C	8: 35,590,459	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,863,200	Y188H	probably damaging	Het
Myom1	A	G	17: 71,101,220		probably benign	Het
Naca	A	T	10: 128,040,904		probably benign	Het
Nckap1l	T	A	15: 103,462,720	V213D	probably benign	Het
Ndufa6	C	T	15: 82,354,081	V50M	possibly damaging	Het
Olfr1000	A	G	2: 85,608,761	W50R	probably benign	Het
Olfr1055	T	A	2: 86,347,733	Y11F	possibly damaging	Het
Olfr1260	T	A	2: 89,978,539	F254I	possibly damaging	Het
Olfr1465	A	G	19: 13,313,986	F100L	possibly damaging	Het
Olfr923	A	G	9: 38,828,350	T220A	probably benign	Het
Osbpl1a	T	C	18: 12,763,575	Y311C	probably damaging	Het
Parp11	A	C	6: 127,491,599	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,932,656		probably null	Het
Plec	T	C	15: 76,189,258	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,567,827	Y375N	probably benign	Het
Prss35	C	A	9: 86,755,274	S32R	probably benign	Het
Prss57	C	T	10: 79,785,747		probably benign	Het
Ptprc	A	C	1: 138,099,481		probably null	Het
Rims1	A	G	1: 22,538,602	C188R	probably damaging	Het
Ripk4	G	T	16: 97,751,496	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,126,271		probably benign	Het
Rps6ka4	A	G	19: 6,832,323	V378A	probably benign	Het
Rtf1	A	G	2: 119,712,108	K298E	probably benign	Het
Sdk1	T	C	5: 142,085,765	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,909,492	K543E	probably benign	Het
Sorcs3	A	T	19: 48,794,168	I1041F	possibly damaging	Het
Taok3	T	C	5: 117,272,197	M818T	probably benign	Het
Tas2r119	T	A	15: 32,177,977	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,381,304	D716G	probably damaging	Het
Tfg	A	G	16: 56,701,102	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,213,132	I45V	probably damaging	Het
Tle1	A	G	4: 72,170,718	L96P	probably damaging	Het
Tmem260	A	C	14: 48,480,325	S276R	possibly damaging	Het
Utp20	A	G	10: 88,764,781	S24P	probably damaging	Het
Vcam1	T	C	3: 116,115,951	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,215,553	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,093,027	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,446,282	I822V	probably benign	Het
Wdr6	C	T	9: 108,574,897	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,454,662	K132N	possibly damaging	Het

Other mutations in Col5a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Col5a3	APN	9	20786389	nonsense	probably null
IGL02164:Col5a3	APN	9	20792643	critical splice donor site	probably null
IGL02297:Col5a3	APN	9	20772154	missense	unknown
IGL02333:Col5a3	APN	9	20799306	missense	unknown
IGL02349:Col5a3	APN	9	20772361	missense	unknown
IGL02390:Col5a3	APN	9	20776996	missense	unknown
IGL02685:Col5a3	APN	9	20772205	missense	unknown
IGL02941:Col5a3	APN	9	20804666	missense	unknown
IGL03001:Col5a3	APN	9	20807744	missense	unknown
IGL03061:Col5a3	APN	9	20797572	critical splice donor site	probably null
IGL03102:Col5a3	APN	9	20804635	critical splice donor site	probably null
IGL03308:Col5a3	APN	9	20808379	missense	unknown
IGL03372:Col5a3	APN	9	20775328	missense	unknown
Guppy	UTSW	9	20779033	missense	probably damaging	1.00
minifish	UTSW	9	20785586	missense	probably damaging	0.99
R0002:Col5a3	UTSW	9	20809856	critical splice acceptor site	probably null
R0012:Col5a3	UTSW	9	20777108	splice site	probably benign
R0316:Col5a3	UTSW	9	20775325	missense	unknown
R0357:Col5a3	UTSW	9	20807768	splice site	probably benign
R0360:Col5a3	UTSW	9	20772466	missense	unknown
R0483:Col5a3	UTSW	9	20782481	splice site	probably null
R0485:Col5a3	UTSW	9	20782708	missense	probably damaging	0.99
R0627:Col5a3	UTSW	9	20775485	missense	unknown
R1035:Col5a3	UTSW	9	20793499	splice site	probably benign
R1051:Col5a3	UTSW	9	20775235	missense	unknown
R1295:Col5a3	UTSW	9	20808418	missense	unknown
R1438:Col5a3	UTSW	9	20779957	missense	probably damaging	0.99
R1622:Col5a3	UTSW	9	20772220	missense	unknown
R1668:Col5a3	UTSW	9	20771096	missense	unknown
R1680:Col5a3	UTSW	9	20784668	critical splice donor site	probably null
R2112:Col5a3	UTSW	9	20809777	missense	unknown
R2149:Col5a3	UTSW	9	20771270	missense	unknown
R2159:Col5a3	UTSW	9	20771310	missense	unknown
R2939:Col5a3	UTSW	9	20795658	missense	unknown
R3236:Col5a3	UTSW	9	20807653	missense	unknown
R3845:Col5a3	UTSW	9	20808377	missense	unknown
R4598:Col5a3	UTSW	9	20774559	critical splice donor site	probably null
R4599:Col5a3	UTSW	9	20774559	critical splice donor site	probably null
R4611:Col5a3	UTSW	9	20814896	unclassified	probably benign
R4713:Col5a3	UTSW	9	20793574	missense	unknown
R4723:Col5a3	UTSW	9	20809591	missense	unknown
R5209:Col5a3	UTSW	9	20778643	intron	probably benign
R5336:Col5a3	UTSW	9	20799301	missense	unknown
R5378:Col5a3	UTSW	9	20797576	missense	unknown
R5614:Col5a3	UTSW	9	20783476	splice site	probably benign
R5775:Col5a3	UTSW	9	20801072	missense	unknown
R5895:Col5a3	UTSW	9	20772442	missense	unknown
R6048:Col5a3	UTSW	9	20807619	missense	unknown
R6265:Col5a3	UTSW	9	20793764	missense	unknown
R6372:Col5a3	UTSW	9	20785586	missense	probably damaging	0.99
R6520:Col5a3	UTSW	9	20774052	missense	unknown
R6558:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6608:Col5a3	UTSW	9	20774019	missense	unknown
R6679:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6680:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6696:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6698:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6700:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6708:Col5a3	UTSW	9	20775035	missense	unknown
R6712:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6714:Col5a3	UTSW	9	20779033	missense	probably damaging	1.00
R6828:Col5a3	UTSW	9	20798452	missense	unknown
R7343:Col5a3	UTSW	9	20793946	critical splice donor site	probably null
R7431:Col5a3	UTSW	9	20770835	makesense	probably null
R7500:Col5a3	UTSW	9	20800289	missense	unknown
R7592:Col5a3	UTSW	9	20797393	missense	unknown
R7671:Col5a3	UTSW	9	20775086	critical splice acceptor site	probably null
R7957:Col5a3	UTSW	9	20774051	missense	unknown
R8510:Col5a3	UTSW	9	20793732	missense	unknown
R8979:Col5a3	UTSW	9	20775301	missense	unknown
R9050:Col5a3	UTSW	9	20786395	missense	probably damaging	1.00
R9052:Col5a3	UTSW	9	20799437	missense	unknown
R9072:Col5a3	UTSW	9	20771157	missense	unknown
R9341:Col5a3	UTSW	9	20793613	missense	unknown
R9343:Col5a3	UTSW	9	20793613	missense	unknown
R9529:Col5a3	UTSW	9	20774012	critical splice donor site	probably null
R9562:Col5a3	UTSW	9	20803133	missense	unknown
R9781:Col5a3	UTSW	9	20809976	missense	unknown
Z1177:Col5a3	UTSW	9	20775334	missense	unknown

Posted On

2013-12-09