Mutagenetix > Incidental Mutations

Incidental Mutation 'R0433:Col4a3'

38887

Institutional Source

Beutler Lab

Gene Symbol

Col4a3

Ensembl Gene

ENSMUSG00000079465

Gene Name

collagen, type IV, alpha 3

Synonyms

alpha3(IV), tumstatin

MMRRC Submission

038635-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82586921-82722059 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82670219 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 484 (P484S)

Ref Sequence

ENSEMBL: ENSMUSP00000109084 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000113457
AA Change: P484S

SMART Domains

Protein: ENSMUSP00000109084
Gene: ENSMUSG00000079465
AA Change: P484S

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

Meta Mutation Damage Score

0.1315

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

99% (108/109)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,870,303	V199A	possibly damaging	Het
2410089E03Rik	T	C	15: 8,216,562	S1473P	probably benign	Het
Abcb5	T	C	12: 118,877,810	M967V	probably benign	Het
Adcy10	T	A	1: 165,552,022	L951Q	probably damaging	Het
Amer2	A	T	14: 60,378,583	S76C	probably damaging	Het
Atad1	T	C	19: 32,698,477	I182M	probably benign	Het
Bpi	A	G	2: 158,258,419	D42G	probably damaging	Het
C7	G	T	15: 4,988,916	T815K	probably damaging	Het
Cacna1g	T	A	11: 94,459,207	D604V	probably benign	Het
Camk1g	A	G	1: 193,354,058	F165L	probably damaging	Het
Ccdc69	C	T	11: 55,052,890		probably null	Het
Ccser2	A	C	14: 36,918,529	F37L	probably damaging	Het
Cfap43	A	G	19: 47,825,771	F208S	probably benign	Het
Cfap54	G	A	10: 92,979,080		probably benign	Het
Cfap69	A	C	5: 5,649,853	D62E	probably damaging	Het
Cnksr2	C	A	X: 157,888,557	M483I	probably benign	Het
Cnksr2	A	T	X: 157,888,558	M483K	probably benign	Het
Cog8	T	C	8: 107,056,478	S60G	possibly damaging	Het
Col6a4	C	T	9: 106,067,994	G974R	probably damaging	Het
Dbnl	T	G	11: 5,796,825		probably null	Het
Dhcr7	T	C	7: 143,840,463	C114R	possibly damaging	Het
Dnah2	C	A	11: 69,459,288	D2340Y	probably damaging	Het
Dusp10	T	A	1: 184,069,196	Y387N	probably damaging	Het
Eipr1	C	T	12: 28,859,331	T199I	possibly damaging	Het
Emc2	T	G	15: 43,497,124		probably null	Het
Enpp3	A	G	10: 24,820,597	S147P	probably benign	Het
Fam133b	T	A	5: 3,558,560		probably benign	Het
Fam205c	A	G	4: 42,874,013		probably benign	Het
Fat1	C	A	8: 45,024,649	T2244K	possibly damaging	Het
Fbn1	A	G	2: 125,348,215	S1453P	possibly damaging	Het
Fez2	A	T	17: 78,418,047	F13I	probably damaging	Het
Ggnbp2	T	C	11: 84,836,420	K530R	probably damaging	Het
Gm597	A	T	1: 28,777,342	Y536*	probably null	Het
Gpa33	T	C	1: 166,163,761		probably benign	Het
Gpr142	T	C	11: 114,805,997	I123T	probably damaging	Het
Il21	T	G	3: 37,232,535	I11L	possibly damaging	Het
Klhl7	A	G	5: 24,127,702	E86G	probably damaging	Het
Klk10	G	T	7: 43,781,565	A11S	possibly damaging	Het
Knl1	A	T	2: 119,104,061	D2115V	probably damaging	Het
Lonp2	A	G	8: 86,633,954	D185G	probably damaging	Het
Lrrc47	T	C	4: 154,018,365		probably benign	Het
Lrrcc1	A	G	3: 14,559,374	I698V	probably damaging	Het
Lzts2	T	C	19: 45,021,676	V83A	possibly damaging	Het
Melk	C	A	4: 44,340,614		probably benign	Het
Mical1	G	A	10: 41,479,490	V150I	probably benign	Het
Morn3	C	A	5: 123,039,333	M129I	probably benign	Het
Mroh2b	T	A	15: 4,941,634	D1040E	probably benign	Het
Mroh5	T	C	15: 73,790,028	N438S	probably benign	Het
Mroh5	T	A	15: 73,790,808	Q387L	probably damaging	Het
Myh15	A	G	16: 49,145,236	D1168G	probably damaging	Het
Nek10	A	G	14: 14,860,927	E493G	probably benign	Het
Nipsnap3a	A	G	4: 53,000,316	Y227C	probably damaging	Het
Nlrp9c	T	A	7: 26,385,819	T112S	probably benign	Het
Nphp4	T	C	4: 152,518,172	V401A	probably benign	Het
Nr1h2	A	G	7: 44,549,987	*365Q	probably null	Het
Olfr1339	T	C	4: 118,735,090	V187A	probably benign	Het
Olfr474	T	C	7: 107,955,262	I207T	probably damaging	Het
Pacs2	T	A	12: 113,056,844	V279D	possibly damaging	Het
Pdcd2	C	T	17: 15,526,384	C171Y	probably benign	Het
Pde11a	T	A	2: 76,337,706	D301V	possibly damaging	Het
Pfpl	T	G	19: 12,429,475	N363K	probably damaging	Het
Phf14	T	A	6: 11,933,743	S201R	probably damaging	Het
Pip4k2c	G	A	10: 127,208,946	P66S	probably benign	Het
Pou2f3	G	T	9: 43,127,398	H392N	probably benign	Het
Pou3f1	G	T	4: 124,658,904	G400C	probably damaging	Het
Ptprg	T	C	14: 12,220,620	I1219T	probably damaging	Het
Rfx6	A	G	10: 51,720,028	D435G	probably damaging	Het
Rhpn2	T	A	7: 35,385,474	S598T	probably benign	Het
Sdccag8	C	A	1: 176,844,821		probably null	Het
Sec16b	C	A	1: 157,534,709	Y43*	probably null	Het
Sele	T	C	1: 164,049,244	Y30H	possibly damaging	Het
Sgsm2	C	T	11: 74,858,190		probably null	Het
Slc45a2	T	C	15: 11,025,745	Y394H	probably benign	Het
Slc4a10	T	G	2: 62,289,983	I788S	probably benign	Het
Slmap	A	T	14: 26,453,594	L161*	probably null	Het
Slx4	A	T	16: 3,986,018	D977E	probably benign	Het
Spen	A	T	4: 141,483,758	M608K	unknown	Het
St8sia4	G	C	1: 95,591,704	T353R	probably damaging	Het
Stab2	G	T	10: 86,843,491		probably benign	Het
Stx12	C	T	4: 132,858,430	G213D	probably damaging	Het
Synj2	A	T	17: 6,033,848	N270Y	probably damaging	Het
Tdrd9	C	T	12: 112,025,581	R438*	probably null	Het
Tert	T	C	13: 73,627,081	Y18H	probably damaging	Het
Tph1	A	T	7: 46,653,821	F244L	probably damaging	Het
Triobp	T	C	15: 78,968,201	F852L	possibly damaging	Het
Trpv1	T	C	11: 73,253,008		probably benign	Het
Uggt2	A	T	14: 119,075,329		probably null	Het
Ulk4	A	G	9: 121,044,819	I1182T	probably benign	Het
Uqcc1	A	G	2: 155,910,368	Y98H	probably damaging	Het
Usp25	A	G	16: 77,109,217	I854V	probably benign	Het
Usp50	T	C	2: 126,761,544	S361G	probably damaging	Het
Uspl1	C	A	5: 149,214,815	Q743K	probably damaging	Het
Vmn2r3	A	G	3: 64,275,633	V215A	possibly damaging	Het
Vmn2r61	A	T	7: 42,265,911	H94L	probably benign	Het
Vps37c	T	C	19: 10,713,029	V285A	probably benign	Het
Vwa8	T	C	14: 79,062,676	V983A	probably damaging	Het
Wdr78	T	C	4: 103,103,253	N67D	probably benign	Het
Zcchc9	C	T	13: 91,805,962	R58H	probably benign	Het
Zdbf2	T	C	1: 63,306,143	V1227A	possibly damaging	Het
Zfp292	T	C	4: 34,839,959	K64E	probably damaging	Het
Zfp948	A	G	17: 21,587,502	T319A	probably benign	Het
Zp3r	T	G	1: 130,577,133		probably benign	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
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	intron	probably null
R6583:Col4a3	UTSW	1	82641476	missense	unknown
R6675:Col4a3	UTSW	1	82668925	missense	unknown
R7170:Col4a3	UTSW	1	82715909	intron	probably null
R7592:Col4a3	UTSW	1	82648617	missense	unknown
R7624:Col4a3	UTSW	1	82718884	missense	probably benign
X0067:Col4a3	UTSW	1	82716159	missense	probably damaging	0.99
Z1177:Col4a3	UTSW	1	82690039	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCAGGACTTGATGGACCCAAAGG -3'
(R):5'- GGGCGACTTCATGGTAACACACTTC -3'

Sequencing Primer
(F):5'- GCTAAGCCTAAAGTGAGAGTCTATCC -3'
(R):5'- GACTTCATGGTAACACACTTCTTCAG -3'

Posted On

2013-05-23