Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03061:Col5a3'

409475

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

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

IGL03061

Quality Score

Status

Chromosome

Chromosomal Location

20681353-20726363 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 20708868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000004201 (fasta)

Gene Model

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

AlphaFold

Q9JLI2

Predicted Effect

probably null
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

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 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	A	8: 46,961,374 (GRCm39)	N106K	probably damaging	Het
Ak8	T	C	2: 28,632,767 (GRCm39)		probably benign	Het
BC016579	C	T	16: 45,449,849 (GRCm39)	G190S	probably damaging	Het
C4bp	A	G	1: 130,564,454 (GRCm39)	V410A	probably damaging	Het
Cacna2d3	T	C	14: 28,780,388 (GRCm39)	T658A	probably damaging	Het
Cadps2	T	C	6: 23,287,659 (GRCm39)		probably null	Het
Car10	G	T	11: 93,381,351 (GRCm39)	V105F	probably damaging	Het
Car15	C	T	16: 17,653,249 (GRCm39)	C306Y	possibly damaging	Het
Casr	C	T	16: 36,316,250 (GRCm39)	A530T	probably benign	Het
Creld1	A	G	6: 113,465,058 (GRCm39)	E95G	probably damaging	Het
Dcstamp	T	A	15: 39,623,793 (GRCm39)	D366E	possibly damaging	Het
Dnah11	T	C	12: 117,866,856 (GRCm39)	Y4095C	probably damaging	Het
Eps8l2	A	G	7: 140,937,148 (GRCm39)		probably benign	Het
Gsn	T	C	2: 35,172,471 (GRCm39)		probably benign	Het
Ifi27l2a	T	C	12: 103,401,803 (GRCm39)	V30A	possibly damaging	Het
Ifit1bl2	C	T	19: 34,597,124 (GRCm39)	R164Q	probably benign	Het
Impg2	T	C	16: 56,088,779 (GRCm39)	S1102P	probably damaging	Het
Kif24	G	T	4: 41,394,323 (GRCm39)	P984Q	possibly damaging	Het
Krtap29-1	T	A	11: 99,869,455 (GRCm39)	Q142L	possibly damaging	Het
Lpar6	C	T	14: 73,476,510 (GRCm39)	T157I	probably benign	Het
Lrrc32	A	T	7: 98,148,629 (GRCm39)	T470S	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mroh9	A	T	1: 162,854,071 (GRCm39)	H776Q	probably damaging	Het
Myh7	T	C	14: 55,228,661 (GRCm39)		probably benign	Het
Myh7b	A	G	2: 155,462,031 (GRCm39)	N309S	possibly damaging	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Myo5b	G	A	18: 74,713,615 (GRCm39)		probably benign	Het
Npas4	C	T	19: 5,036,365 (GRCm39)	V600M	probably damaging	Het
Nrxn3	T	A	12: 89,478,698 (GRCm39)	Y557*	probably null	Het
Or2aj4	T	C	16: 19,385,463 (GRCm39)	T57A	possibly damaging	Het
Or52k2	A	G	7: 102,253,946 (GRCm39)	I128M	probably damaging	Het
Or8g53	T	A	9: 39,683,458 (GRCm39)	T213S	probably benign	Het
Pcdh15	A	G	10: 74,152,843 (GRCm39)	I383V	probably damaging	Het
Pdzrn3	C	A	6: 101,128,816 (GRCm39)	D617Y	probably damaging	Het
Prodh2	A	T	7: 30,212,258 (GRCm39)	K408*	probably null	Het
Ptprs	T	C	17: 56,725,830 (GRCm39)	I1052V	probably damaging	Het
Rpl14	T	C	9: 120,401,193 (GRCm39)	V12A	probably damaging	Het
Sf3a1	C	T	11: 4,125,493 (GRCm39)	R428C	probably damaging	Het
Sgsm2	G	T	11: 74,741,962 (GRCm39)	N1009K	probably damaging	Het
Slc28a2	A	T	2: 122,284,980 (GRCm39)	I323F	probably damaging	Het
Snx19	T	A	9: 30,344,928 (GRCm39)	F676I	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tg	A	C	15: 66,543,254 (GRCm39)	D56A	probably damaging	Het
Tln1	G	T	4: 43,545,694 (GRCm39)	A928E	probably damaging	Het
Tmem94	T	C	11: 115,683,247 (GRCm39)	S677P	possibly damaging	Het
Ttc41	C	A	10: 86,572,721 (GRCm39)	H698N	possibly damaging	Het
Vcan	T	C	13: 89,851,394 (GRCm39)	T1189A	probably benign	Het
Vmn1r215	G	T	13: 23,260,088 (GRCm39)	V43F	probably damaging	Het
Vmn2r28	A	T	7: 5,487,015 (GRCm39)	N549K	probably damaging	Het
Zfp598	T	C	17: 24,898,566 (GRCm39)	V455A	probably benign	Het

Other mutations in Col5a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Col5a3	APN	9	20,697,685 (GRCm39)	nonsense	probably null
IGL01548:Col5a3	APN	9	20,714,296 (GRCm39)	splice site	probably benign
IGL02164:Col5a3	APN	9	20,703,939 (GRCm39)	critical splice donor site	probably null
IGL02297:Col5a3	APN	9	20,683,450 (GRCm39)	missense	unknown
IGL02333:Col5a3	APN	9	20,710,602 (GRCm39)	missense	unknown
IGL02349:Col5a3	APN	9	20,683,657 (GRCm39)	missense	unknown
IGL02390:Col5a3	APN	9	20,688,292 (GRCm39)	missense	unknown
IGL02685:Col5a3	APN	9	20,683,501 (GRCm39)	missense	unknown
IGL02941:Col5a3	APN	9	20,715,962 (GRCm39)	missense	unknown
IGL03001:Col5a3	APN	9	20,719,040 (GRCm39)	missense	unknown
IGL03102:Col5a3	APN	9	20,715,931 (GRCm39)	critical splice donor site	probably null
IGL03308:Col5a3	APN	9	20,719,675 (GRCm39)	missense	unknown
IGL03372:Col5a3	APN	9	20,686,624 (GRCm39)	missense	unknown
Guppy	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
minifish	UTSW	9	20,696,882 (GRCm39)	missense	probably damaging	0.99
R0002:Col5a3	UTSW	9	20,721,152 (GRCm39)	critical splice acceptor site	probably null
R0012:Col5a3	UTSW	9	20,688,404 (GRCm39)	splice site	probably benign
R0316:Col5a3	UTSW	9	20,686,621 (GRCm39)	missense	unknown
R0357:Col5a3	UTSW	9	20,719,064 (GRCm39)	splice site	probably benign
R0360:Col5a3	UTSW	9	20,683,762 (GRCm39)	missense	unknown
R0483:Col5a3	UTSW	9	20,693,777 (GRCm39)	splice site	probably null
R0485:Col5a3	UTSW	9	20,694,004 (GRCm39)	missense	probably damaging	0.99
R0627:Col5a3	UTSW	9	20,686,781 (GRCm39)	missense	unknown
R1035:Col5a3	UTSW	9	20,704,795 (GRCm39)	splice site	probably benign
R1051:Col5a3	UTSW	9	20,686,531 (GRCm39)	missense	unknown
R1295:Col5a3	UTSW	9	20,719,714 (GRCm39)	missense	unknown
R1438:Col5a3	UTSW	9	20,691,253 (GRCm39)	missense	probably damaging	0.99
R1622:Col5a3	UTSW	9	20,683,516 (GRCm39)	missense	unknown
R1668:Col5a3	UTSW	9	20,682,392 (GRCm39)	missense	unknown
R1680:Col5a3	UTSW	9	20,695,964 (GRCm39)	critical splice donor site	probably null
R2112:Col5a3	UTSW	9	20,721,073 (GRCm39)	missense	unknown
R2149:Col5a3	UTSW	9	20,682,566 (GRCm39)	missense	unknown
R2159:Col5a3	UTSW	9	20,682,606 (GRCm39)	missense	unknown
R2939:Col5a3	UTSW	9	20,706,954 (GRCm39)	missense	unknown
R3236:Col5a3	UTSW	9	20,718,949 (GRCm39)	missense	unknown
R3845:Col5a3	UTSW	9	20,719,673 (GRCm39)	missense	unknown
R4598:Col5a3	UTSW	9	20,685,855 (GRCm39)	critical splice donor site	probably null
R4599:Col5a3	UTSW	9	20,685,855 (GRCm39)	critical splice donor site	probably null
R4611:Col5a3	UTSW	9	20,726,192 (GRCm39)	unclassified	probably benign
R4713:Col5a3	UTSW	9	20,704,870 (GRCm39)	missense	unknown
R4723:Col5a3	UTSW	9	20,720,887 (GRCm39)	missense	unknown
R5209:Col5a3	UTSW	9	20,689,939 (GRCm39)	intron	probably benign
R5336:Col5a3	UTSW	9	20,710,597 (GRCm39)	missense	unknown
R5378:Col5a3	UTSW	9	20,708,872 (GRCm39)	missense	unknown
R5614:Col5a3	UTSW	9	20,694,772 (GRCm39)	splice site	probably benign
R5775:Col5a3	UTSW	9	20,712,368 (GRCm39)	missense	unknown
R5895:Col5a3	UTSW	9	20,683,738 (GRCm39)	missense	unknown
R6048:Col5a3	UTSW	9	20,718,915 (GRCm39)	missense	unknown
R6265:Col5a3	UTSW	9	20,705,060 (GRCm39)	missense	unknown
R6372:Col5a3	UTSW	9	20,696,882 (GRCm39)	missense	probably damaging	0.99
R6520:Col5a3	UTSW	9	20,685,348 (GRCm39)	missense	unknown
R6558:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6608:Col5a3	UTSW	9	20,685,315 (GRCm39)	missense	unknown
R6679:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6680:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6696:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6698:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6700:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6708:Col5a3	UTSW	9	20,686,331 (GRCm39)	missense	unknown
R6712:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6714:Col5a3	UTSW	9	20,690,329 (GRCm39)	missense	probably damaging	1.00
R6828:Col5a3	UTSW	9	20,709,748 (GRCm39)	missense	unknown
R7343:Col5a3	UTSW	9	20,705,242 (GRCm39)	critical splice donor site	probably null
R7431:Col5a3	UTSW	9	20,682,131 (GRCm39)	makesense	probably null
R7500:Col5a3	UTSW	9	20,711,585 (GRCm39)	missense	unknown
R7592:Col5a3	UTSW	9	20,708,689 (GRCm39)	missense	unknown
R7671:Col5a3	UTSW	9	20,686,382 (GRCm39)	critical splice acceptor site	probably null
R7957:Col5a3	UTSW	9	20,685,347 (GRCm39)	missense	unknown
R8510:Col5a3	UTSW	9	20,705,028 (GRCm39)	missense	unknown
R8979:Col5a3	UTSW	9	20,686,597 (GRCm39)	missense	unknown
R9050:Col5a3	UTSW	9	20,697,691 (GRCm39)	missense	probably damaging	1.00
R9052:Col5a3	UTSW	9	20,710,733 (GRCm39)	missense	unknown
R9072:Col5a3	UTSW	9	20,682,453 (GRCm39)	missense	unknown
R9341:Col5a3	UTSW	9	20,704,909 (GRCm39)	missense	unknown
R9343:Col5a3	UTSW	9	20,704,909 (GRCm39)	missense	unknown
R9529:Col5a3	UTSW	9	20,685,308 (GRCm39)	critical splice donor site	probably null
R9562:Col5a3	UTSW	9	20,714,429 (GRCm39)	missense	unknown
R9781:Col5a3	UTSW	9	20,721,272 (GRCm39)	missense	unknown
Z1177:Col5a3	UTSW	9	20,686,630 (GRCm39)	missense	unknown

Posted On

2016-08-02