Mutagenetix > Incidental Mutation

Incidental Mutation 'R4928:Col4a3'

380952

Institutional Source

Beutler Lab

Gene Symbol

Col4a3

Ensembl Gene

ENSMUSG00000079465

Gene Name

collagen, type IV, alpha 3

Synonyms

alpha3(IV), tumstatin

MMRRC Submission

042529-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82586921-82722059 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 82710977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113457] [ENSMUST00000125563] [ENSMUST00000152664]

AlphaFold

Q9QZS0

Predicted Effect

unknown
Transcript: ENSMUST00000113457
AA Change: G1347D

SMART Domains

Protein: ENSMUSP00000109084
Gene: ENSMUSG00000079465
AA Change: G1347D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125563

SMART Domains

Protein: ENSMUSP00000137944
Gene: ENSMUSG00000079465

Domain	Start	End	E-Value	Type
Pfam:C4	8	60	4.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152664

SMART Domains

Protein: ENSMUSP00000119094
Gene: ENSMUSG00000079465

Domain	Start	End	E-Value	Type
C4	8	117	3.77e-70	SMART
Pfam:C4	118	169	4.1e-14	PFAM
low complexity region	185	196	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181720

Meta Mutation Damage Score

0.7234

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

98% (123/126)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530021J07Rik	G	T	7: 83,155,878		noncoding transcript	Het
Aasdh	T	A	5: 76,896,688	K118N	possibly damaging	Het
Abca14	A	T	7: 120,324,580	N1620I	possibly damaging	Het
Acap1	A	T	11: 69,885,815	S149T	possibly damaging	Het
Adgre1	T	A	17: 57,444,064	Y579*	probably null	Het
AI314180	A	G	4: 58,827,073	V1020A	probably damaging	Het
Aifm3	T	C	16: 17,500,432		probably benign	Het
Aldh16a1	A	G	7: 45,141,961	W107R	probably damaging	Het
Amer2	A	T	14: 60,379,445	H363L	possibly damaging	Het
Arhgap10	A	G	8: 77,426,328		probably null	Het
Arhgef6	A	T	X: 57,234,878	D742E	probably damaging	Het
Astn2	A	T	4: 65,729,407	N731K	probably damaging	Het
Atp1a2	T	C	1: 172,278,387	T904A	possibly damaging	Het
Atr	C	T	9: 95,907,299	R1503W	probably damaging	Het
Cdh3	G	T	8: 106,536,610	R97L	probably benign	Het
Chst2	C	T	9: 95,406,006	V96I	probably benign	Het
Cit	T	A	5: 115,985,797	N1464K	probably benign	Het
Col17a1	A	T	19: 47,670,458		probably null	Het
Copz1	T	A	15: 103,291,330	S57R	probably damaging	Het
Cpped1	A	T	16: 11,828,279	F227Y	probably damaging	Het
Cyp2j12	A	T	4: 96,102,151		probably null	Het
Dctn1	T	A	6: 83,189,207	I195N	possibly damaging	Het
Dhrs7b	A	G	11: 60,851,925	I148V	probably benign	Het
Dnah17	T	C	11: 118,027,433	D4096G	probably damaging	Het
Dnajc13	T	C	9: 104,233,638	N145D	possibly damaging	Het
Ercc6l2	T	C	13: 63,894,813		probably benign	Het
Fads6	T	G	11: 115,296,561	I103L	probably benign	Het
Fam189a1	G	T	7: 64,759,368	S426*	probably null	Het
Fat4	T	G	3: 39,010,465	Y4857D	probably damaging	Het
Fbxl14	T	A	6: 119,480,710	L284Q	probably damaging	Het
Fkbp9	T	C	6: 56,849,670	V85A	possibly damaging	Het
Galnt13	T	A	2: 54,516,565	V9E	probably damaging	Het
Gm14412	A	T	2: 177,314,580	S507R	probably benign	Het
Gm15142	T	A	X: 154,638,419		noncoding transcript	Het
Gm4787	T	C	12: 81,378,838	E182G	probably benign	Het
Gm6811	C	A	17: 21,094,631		noncoding transcript	Het
Gm9791	A	T	3: 34,005,069		noncoding transcript	Het
Hoxb7	A	T	11: 96,289,510		probably null	Het
Ift122	T	A	6: 115,915,858		probably benign	Het
Krt28	C	T	11: 99,374,632	V70I	probably benign	Het
Lig1	T	C	7: 13,298,738	S459P	probably damaging	Het
Lrfn3	C	T	7: 30,360,623	R59H	possibly damaging	Het
Mavs	T	C	2: 131,246,743	V489A	probably benign	Het
Mcm8	C	T	2: 132,839,479	P625L	probably benign	Het
Megf10	G	T	18: 57,240,673	R181L	probably benign	Het
Mgrn1	G	A	16: 4,927,862	G440D	probably benign	Het
Mllt3	T	C	4: 87,782,405		probably null	Het
Muc5ac	T	A	7: 141,817,902	Y2613*	probably null	Het
Myh14	C	T	7: 44,635,502	G662S	probably benign	Het
Myod1	T	A	7: 46,377,050	N126K	probably damaging	Het
Nae1	A	T	8: 104,516,142	H439Q	possibly damaging	Het
Narf	T	A	11: 121,244,939	V136E	possibly damaging	Het
Ncapd3	T	A	9: 27,071,735	C926*	probably null	Het
Ndufv2	C	A	17: 66,092,658		probably null	Het
Neb	T	C	2: 52,212,975	S449G	possibly damaging	Het
Nek10	C	T	14: 14,930,577	P698L	probably damaging	Het
Nox3	T	A	17: 3,635,275	E566V	probably null	Het
Oas1a	C	T	5: 120,905,724	R115H	probably benign	Het
Olfr1076	T	A	2: 86,509,125	L222H	probably damaging	Het
Olfr1130	C	A	2: 87,608,143	L252I	probably benign	Het
Olfr1152	A	G	2: 87,868,230	M80V	probably benign	Het
Olfr65	A	G	7: 103,906,672	T78A	probably damaging	Het
Pbld2	A	G	10: 63,047,999	H142R	probably damaging	Het
Pcdha4	C	T	18: 36,954,816	T684M	probably benign	Het
Phc3	G	T	3: 30,950,919	T175N	probably damaging	Het
Pigs	G	T	11: 78,329,002	V68L	probably damaging	Het
Pik3c2g	T	A	6: 139,967,802	D857E	possibly damaging	Het
Pitpnm3	G	A	11: 72,063,172	P550S	probably damaging	Het
Pla2g15	G	A	8: 106,163,218	W374*	probably null	Het
Ptpn14	G	A	1: 189,822,642	C133Y	probably damaging	Het
Ptpn20	A	G	14: 33,614,489	N95S	probably benign	Het
Ptrh2	G	T	11: 86,690,036	V160F	probably damaging	Het
Rapgef3	T	C	15: 97,757,375	D486G	probably damaging	Het
Rev3l	T	G	10: 39,823,985	S1493A	probably benign	Het
Rgs9	T	A	11: 109,225,744	D411V	probably benign	Het
Rgsl1	A	T	1: 153,793,768	Y291N	probably damaging	Het
Rprd2	A	G	3: 95,764,537	Y1185H	probably damaging	Het
Rpusd3	A	G	6: 113,416,206		probably benign	Het
Scnn1a	T	C	6: 125,322,173	I72T	probably damaging	Het
Sdk1	A	T	5: 141,857,003		probably benign	Het
Sfmbt2	T	C	2: 10,445,745	L277P	probably benign	Het
Sgf29	A	G	7: 126,664,982	E73G	probably damaging	Het
Slc12a6	T	A	2: 112,352,961	F764L	probably damaging	Het
Slc4a2	T	C	5: 24,435,342		probably null	Het
Slc9a3	T	G	13: 74,157,719	V285G	probably damaging	Het
Slc9c1	A	G	16: 45,575,409	T608A	probably benign	Het
Slfnl1	C	T	4: 120,535,685	R325C	probably damaging	Het
Smarcad1	T	A	6: 65,074,914	F344I	probably benign	Het
Snrnp70	A	T	7: 45,377,281		probably null	Het
Sod2	C	T	17: 13,008,186	T9M	probably benign	Het
Spag5	T	A	11: 78,314,373	S633T	probably damaging	Het
Spta1	A	T	1: 174,191,056	I531L	probably benign	Het
Stra8	A	G	6: 34,933,156	E60G	probably benign	Het
Sult2a3	T	A	7: 14,111,557	I126F	probably benign	Het
Syt1	T	C	10: 108,504,512	H315R	possibly damaging	Het
Tanc2	T	C	11: 105,867,762	L783P	probably damaging	Het
Thbs2	C	T	17: 14,678,900	C646Y	probably damaging	Het
Ticam2	T	A	18: 46,560,922	K33*	probably null	Het
Trim17	T	C	11: 58,954,301		probably benign	Het
Tsr1	G	A	11: 74,907,879	M691I	probably benign	Het
Ttn	T	A	2: 76,762,419	I20790F	probably damaging	Het
Tubb2b	A	T	13: 34,128,185	Y208*	probably null	Het
Ubr1	T	A	2: 120,914,938	I890F	probably damaging	Het
Usp54	T	C	14: 20,562,192	E852G	probably damaging	Het
Vmn2r78	T	C	7: 86,954,627	V671A	probably damaging	Het
Wipi1	T	C	11: 109,579,649	K315E	probably benign	Het
Xrn2	T	C	2: 147,051,718	V735A	possibly damaging	Het
Zdbf2	T	A	1: 63,308,814	D2117E	possibly damaging	Het
Zfp287	A	T	11: 62,714,136	C648*	probably null	Het
Zfp369	A	G	13: 65,296,800	T586A	possibly damaging	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	82669720	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
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

Predicted Primers

PCR Primer
(F):5'- GGTAACCCTGGATTTCTTGGGC -3'
(R):5'- GGGTAAATGAACCTAATCCCAAATTGG -3'

Sequencing Primer
(F):5'- CCCTGGATTTCTTGGGCCAATTG -3'
(R):5'- GGAGTTCTATCAGGTGCTTCCAAAC -3'

Posted On

2016-04-15