Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01102:Col4a3'

50268

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col4a3

Ensembl Gene

ENSMUSG00000079465

Gene Name

collagen, type IV, alpha 3

Synonyms

alpha3(IV), tumstatin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01102

Quality Score

Status

Chromosome

Chromosomal Location

82586921-82722059 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82669720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 455 (D455G)

Ref Sequence

ENSEMBL: ENSMUSP00000109084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113457]

AlphaFold

Q9QZS0

Predicted Effect

unknown
Transcript: ENSMUST00000113457
AA Change: D455G

SMART Domains

Protein: ENSMUSP00000109084
Gene: ENSMUSG00000079465
AA Change: D455G

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Collagen	41	102	9.6e-11	PFAM
Pfam:Collagen	97	164	3.6e-11	PFAM
Pfam:Collagen	164	223	3.6e-9	PFAM
low complexity region	233	243	N/A	INTRINSIC
Pfam:Collagen	284	344	2.4e-10	PFAM
low complexity region	368	393	N/A	INTRINSIC
Pfam:Collagen	415	477	5e-10	PFAM
Pfam:Collagen	481	545	1e-9	PFAM
low complexity region	550	585	N/A	INTRINSIC
Pfam:Collagen	588	653	8.9e-9	PFAM
Pfam:Collagen	682	744	1.1e-8	PFAM
Pfam:Collagen	743	807	6.9e-10	PFAM
Pfam:Collagen	786	847	1.5e-8	PFAM
Pfam:Collagen	845	904	1.5e-10	PFAM
Pfam:Collagen	887	946	4.1e-10	PFAM
Pfam:Collagen	948	1006	8.1e-11	PFAM
Pfam:Collagen	997	1061	2.8e-10	PFAM
Pfam:Collagen	1057	1120	2.5e-10	PFAM
Pfam:Collagen	1114	1176	1.7e-9	PFAM
Pfam:Collagen	1174	1233	1.1e-9	PFAM
Pfam:Collagen	1232	1295	6.9e-9	PFAM
low complexity region	1326	1347	N/A	INTRINSIC
Pfam:Collagen	1377	1439	4.9e-11	PFAM
C4	1444	1553	3.77e-70	SMART
C4	1554	1667	3.28e-70	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds aremildly increased across all test frequencies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	C	T	2: 25,433,956		probably benign	Het
Bloc1s2-ps	C	T	2: 52,619,902	A50V	probably benign	Het
Coro1c	A	T	5: 113,849,614	M222K	probably benign	Het
Dnah5	T	A	15: 28,410,003		probably null	Het
Emc4	C	A	2: 112,367,526		probably benign	Het
Fam160a1	A	G	3: 85,665,501		probably benign	Het
Fcer2a	T	C	8: 3,688,842	D32G	possibly damaging	Het
Garnl3	T	C	2: 33,006,816	K559E	probably damaging	Het
Gckr	T	C	5: 31,309,037	L452P	probably damaging	Het
Gm13119	A	G	4: 144,363,625	I412V	probably benign	Het
Gm4841	A	G	18: 60,270,052	V323A	probably damaging	Het
Gm6902	T	A	7: 23,273,662	I147L	probably benign	Het
Gpr75	T	C	11: 30,891,755	V220A	probably benign	Het
Hdac6	A	G	X: 7,946,998	S42P	probably benign	Het
Hdhd2	A	G	18: 76,956,911	N128S	probably damaging	Het
Hsd3b2	G	T	3: 98,711,679	R317S	probably damaging	Het
Il23r	T	A	6: 67,423,925	I474F	probably damaging	Het
Itga5	T	C	15: 103,346,675	Y954C	probably benign	Het
Itgam	T	C	7: 128,080,273	F196L	possibly damaging	Het
Mapkbp1	T	C	2: 120,021,858	V957A	possibly damaging	Het
Mblac2	T	C	13: 81,750,006	M167T	probably damaging	Het
Mterf4	C	T	1: 93,305,090	R13H	possibly damaging	Het
Npffr1	T	G	10: 61,614,208	V87G	probably damaging	Het
Olfr186	G	A	16: 59,027,829	P26L	probably benign	Het
Olfr813	A	G	10: 129,856,628	I37V	probably benign	Het
Phldb2	A	G	16: 45,825,060	L386P	probably damaging	Het
Ppp1r13b	A	G	12: 111,833,219	I708T	probably benign	Het
Ramp2	T	A	11: 101,247,627	Y85N	probably benign	Het
Rnf217	A	G	10: 31,608,503	Y228H	probably damaging	Het
Rock1	T	G	18: 10,080,502	D1014A	probably benign	Het
Scyl3	T	A	1: 163,934,769	C101*	probably null	Het
Sema6b	G	T	17: 56,132,761	L27I	possibly damaging	Het
Slc10a5	A	G	3: 10,335,309	V97A	probably benign	Het
Strc	C	A	2: 121,365,060	R1636L	probably benign	Het
Tm9sf1	T	A	14: 55,642,767	T58S	probably damaging	Het
Tmem106c	T	C	15: 97,966,944	Y85H	probably damaging	Het
Uhrf1bp1l	T	C	10: 89,791,378	L435P	probably benign	Het
Vmn2r9	A	G	5: 108,842,945		probably null	Het
Vps13a	A	G	19: 16,651,417		probably null	Het
Zfp976	A	T	7: 42,613,909	L168*	probably null	Het

Other mutations in Col4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Col4a3	APN	1	82697754	missense	unknown
IGL00847:Col4a3	APN	1	82717869	missense	probably damaging	1.00
IGL01011:Col4a3	APN	1	82682301	missense	unknown
IGL01102:Col4a3	APN	1	82670255	missense	unknown
IGL02071:Col4a3	APN	1	82660887	critical splice donor site	probably null
IGL02244:Col4a3	APN	1	82669771	splice site	probably benign
IGL02380:Col4a3	APN	1	82672788	splice site	probably benign
IGL02431:Col4a3	APN	1	82679623	nonsense	probably null
IGL02466:Col4a3	APN	1	82670192	missense	unknown
IGL02694:Col4a3	APN	1	82710794	unclassified	probably benign
IGL02709:Col4a3	APN	1	82679112	missense	unknown
IGL02752:Col4a3	APN	1	82660225	missense	unknown
IGL02792:Col4a3	APN	1	82718803	missense	probably damaging	1.00
IGL03203:Col4a3	APN	1	82672639	nonsense	probably null
IGL03218:Col4a3	APN	1	82643206	splice site	probably benign
FR4976:Col4a3	UTSW	1	82718906	frame shift	probably null
PIT4260001:Col4a3	UTSW	1	82682761	missense	unknown
PIT4515001:Col4a3	UTSW	1	82682303	missense	unknown
R0035:Col4a3	UTSW	1	82672753	missense	unknown
R0099:Col4a3	UTSW	1	82717993	missense	probably benign	0.41
R0433:Col4a3	UTSW	1	82670219	missense	unknown
R0573:Col4a3	UTSW	1	82716363	missense	possibly damaging	0.83
R0606:Col4a3	UTSW	1	82672586	splice site	probably benign
R0715:Col4a3	UTSW	1	82652158	splice site	probably benign
R0961:Col4a3	UTSW	1	82708576	splice site	probably benign
R1257:Col4a3	UTSW	1	82716365	missense	probably damaging	1.00
R1264:Col4a3	UTSW	1	82643301	splice site	probably benign
R1373:Col4a3	UTSW	1	82690087	splice site	probably benign
R1694:Col4a3	UTSW	1	82690663	splice site	probably null
R1895:Col4a3	UTSW	1	82679108	missense	unknown
R1925:Col4a3	UTSW	1	82700373	missense	unknown
R1925:Col4a3	UTSW	1	82711874	unclassified	probably benign
R2033:Col4a3	UTSW	1	82718011	intron	probably benign
R2044:Col4a3	UTSW	1	82696319	missense	unknown
R2122:Col4a3	UTSW	1	82654957	missense	unknown
R2282:Col4a3	UTSW	1	82708638	missense	unknown
R2318:Col4a3	UTSW	1	82648569	splice site	probably null
R2421:Col4a3	UTSW	1	82670275	splice site	probably benign
R2517:Col4a3	UTSW	1	82680710	missense	unknown
R2965:Col4a3	UTSW	1	82648600	missense	unknown
R3085:Col4a3	UTSW	1	82651258	missense	unknown
R3150:Col4a3	UTSW	1	82657137	splice site	probably null
R3947:Col4a3	UTSW	1	82715332	missense	probably damaging	1.00
R4756:Col4a3	UTSW	1	82716297	critical splice acceptor site	probably null
R4910:Col4a3	UTSW	1	82672679	missense	unknown
R4928:Col4a3	UTSW	1	82710977	unclassified	probably benign
R5044:Col4a3	UTSW	1	82666546	missense	unknown
R5557:Col4a3	UTSW	1	82715247	unclassified	probably benign
R5761:Col4a3	UTSW	1	82716057	nonsense	probably null
R5970:Col4a3	UTSW	1	82716329	missense	possibly damaging	0.76
R6576:Col4a3	UTSW	1	82708574	splice site	probably null
R6583:Col4a3	UTSW	1	82641476	missense	unknown
R6675:Col4a3	UTSW	1	82668925	missense	unknown
R7170:Col4a3	UTSW	1	82715909	splice site	probably null
R7592:Col4a3	UTSW	1	82648617	missense	unknown
R7624:Col4a3	UTSW	1	82718884	missense	probably benign
R7994:Col4a3	UTSW	1	82662906	missense	unknown
R8127:Col4a3	UTSW	1	82649760	missense	unknown
R8702:Col4a3	UTSW	1	82710979	missense	unknown
R8865:Col4a3	UTSW	1	82669762	critical splice donor site	probably null
R8973:Col4a3	UTSW	1	82715331	missense	probably benign	0.11
R9611:Col4a3	UTSW	1	82700297	missense	unknown
R9665:Col4a3	UTSW	1	82690580	missense	unknown
R9765:Col4a3	UTSW	1	82668957	nonsense	probably null
X0067:Col4a3	UTSW	1	82716159	missense	probably damaging	0.99
Z1177:Col4a3	UTSW	1	82690039	missense	unknown

Posted On

2013-06-21