Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4976:Col4a3'

511785

Institutional Source

Beutler Lab

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 #

FR4976 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

82586921-82722059 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CGTTTTTTTTTTTTTTTT to C at 82718906 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

probably benign
Transcript: ENSMUST00000113457

SMART Domains

Protein: ENSMUSP00000109084
Gene: ENSMUSG00000079465

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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187869

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 96.9%

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: 222 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TTC	TTCATC	12: 110,668,447		probably benign	Het
1700001K19Rik	TTC	TTCGTC	12: 110,668,450		probably benign	Het
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
2010300C02Rik	A	G	1: 37,625,102	S47P	probably damaging	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,739		probably benign	Het
4930402H24Rik	TCC	TCCACC	2: 130,770,742		probably benign	Het
4930402H24Rik	C	CTCG	2: 130,770,753		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,423,711		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,425,229		probably benign	Het
Akap12	AAA	AAACAA	10: 4,353,837		probably benign	Het
Alg1	GCTCACTCAC	GCTCAC	16: 5,244,561		probably null	Homo
Alg9	G	GCGA	9: 50,775,431		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292		probably benign	Het
Anapc2	TGGCGGTGGCGGCGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGGCGG	2: 25,272,532		probably benign	Het
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGTCAATAAAG	18: 34,281,998		probably benign	Het
Apc	AATAAAGC	AATAAAGCCTATAAAGC	18: 34,282,000		probably benign	Het
Apc	AAGC	AAGCCAATATAGC	18: 34,282,004		probably null	Het
Atad3a	C	A	4: 155,753,939	R207L	probably damaging	Homo
BC051142	AGC	AGCGGC	17: 34,460,058		probably benign	Het
BC051142	AGC	AGCGGC	17: 34,460,061		probably benign	Het
Blm	ACCT	ACCTCCCT	7: 80,463,767		probably benign	Homo
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC	7: 80,512,907		probably benign	Het
Bmp5	GAGGAGT	G	9: 75,776,375		probably benign	Homo
Bpifa6	A	T	2: 153,986,376	Q134L	probably benign	Homo
Bpifa6	A	T	2: 153,986,398	R141S	probably benign	Homo
Btnl10	AGA	AGAGGA	11: 58,923,929		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,717		probably benign	Het
Cacna1a	ACC	ACCTCC	8: 84,638,726		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,141,262		probably benign	Het
Catsper2	C	CTTTTACTTTTTT	2: 121,397,542		probably benign	Homo
Catsper2	TGTC	TGTCGTC	2: 121,397,779		probably benign	Homo
Catsper2	CAT	CATTAT	2: 121,397,782		probably benign	Het
Catsper2	ATCGTCGTCGTC	ATCGTCGTCGTCGTC	2: 121,397,795		probably benign	Het
Ccdc170	ACCGCC	ACCGCCGCC	10: 4,561,008		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,561,023		probably benign	Het
Ccdc170	AC	ACCTC	10: 4,561,029		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdx1	GGGCTGC	GGGCTGCGGCTGC	18: 61,019,867		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,019,869		probably benign	Het
Cep112	G	GCTCT	11: 108,425,352		probably benign	Het
Cep89	GACT	G	7: 35,409,641		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,638,930		probably benign	Homo
Chd4	GC	GCTCCCTC	6: 125,122,131		probably benign	Homo
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,669,520		probably benign	Het
Cnpy3	CCT	CCTACT	17: 46,736,747		probably null	Het
Cntnap1	A	ACCCCCC	11: 101,189,569		probably benign	Het
Cntnap1	CCCAGC	CCCAGCACCAGC	11: 101,189,572		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,189,585		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,189,588		probably benign	Het
Cpne1	AGA	AGAGAGA	2: 156,072,025		probably null	Homo
Ctsm	AGTG	AGTGGGTG	13: 61,537,836		probably null	Homo
Cttnbp2	GCTGCT	GCTGCTCCTGCT	6: 18,367,461		probably benign	Het
Cttnbp2	GCTGCT	GCTGCTTCTGCT	6: 18,367,467		probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,500,848		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,500,850		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,853		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,856		probably benign	Het
Cybrd1	GAAT	G	2: 71,138,511		probably benign	Homo
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,689		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,692		probably benign	Het
Dbr1	AGG	AGGAGGCGG	9: 99,583,701		probably benign	Het
Dbr1	GG	GGAGGAAG	9: 99,583,702		probably benign	Het
Dcaf8	C	T	1: 172,172,856	H194Y	probably damaging	Homo
Dnajc19	AC	ACGC	3: 34,057,994		probably null	Het
Dthd1	GAC	GACTAC	5: 62,843,024		probably benign	Homo
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Eif3a	A	ATTTTT	19: 60,775,291		probably benign	Homo
Ermn	CTT	CTTGTT	2: 58,048,080		probably benign	Het
Ermn	TC	TCTAC	2: 58,048,088		probably benign	Het
Fam45a	ACTC	ACTCCTC	19: 60,814,618		probably benign	Homo
Fam45a	T	TTCA	19: 60,814,622		probably benign	Homo
Fbxo38	TGCAGC	TGC	18: 62,515,347		probably benign	Het
Frem3	CT	CTTGT	8: 80,615,241		probably benign	Homo
Fsip2	TTTTT	TTTTTGTTTT	2: 82,984,362		probably benign	Het
Fsip2	TT	TTTTTCT	2: 82,984,365		probably benign	Het
Gabre	AGGCT	AGGCTGCGGCT	X: 72,270,418		probably benign	Homo
Gabre	T	TGAGGCC	X: 72,270,422		probably benign	Homo
Gm10800	A	AC	2: 98,667,033		probably null	Homo
Gm14393	T	G	2: 175,061,820	N98T	probably benign	Het
Gm16503	G	A	4: 147,541,253	G68E	unknown	Het
Gm28040	TG	TGGCACCTTTCGAG	1: 133,327,323		probably benign	Homo
Gm4340	AGC	AGCCGC	10: 104,196,079		probably benign	Het
Gm6309	C	T	5: 146,168,183	V307I	probably benign	Het
Gm7534	TG	TGCCG	4: 134,202,630		probably benign	Homo
Golga5	G	A	12: 102,475,660		probably null	Homo
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 78,842,170		probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 78,842,171		probably benign	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 78,842,172		probably benign	Het
Gpatch11	GAGGAA	GAGGAATAGGAA	17: 78,842,173		probably null	Het
Gpatch11	AGGAA	AGGAAGTGGAA	17: 78,842,180		probably benign	Het
H2-K1	GTTT	G	17: 33,997,042		probably benign	Homo
Hcn1	GCAGC	GCAGCGACAGC	13: 117,975,808		probably benign	Homo
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 68,226,181		probably benign	Het
Igf1r	C	CTGGAGATGGAGA	7: 68,226,186		probably benign	Het
Il17rd	CGG	CGGTGG	14: 27,082,677		probably benign	Het
Il2	GG	GGGGCTTGAAGTAG	3: 37,125,829		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,386,281		probably benign	Het
Iqcc	T	TGTCAGCCTCCTTGTACCC	4: 129,616,676		probably benign	Het
Isg20l2	AAG	AAGTAG	3: 87,931,715		probably null	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,360		probably benign	Het
Kmt2b	CTCCTC	CTCCTCGTCCTC	7: 30,586,362		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,586,364		probably null	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,586,366		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,373		probably benign	Het
Kmt2c	TGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	5: 25,315,763		probably benign	Homo
Krtap9-3	AC	ACAGGTGCCTC	11: 99,598,004		probably benign	Homo
Las1l	AGG	AGGGGG	X: 95,940,827		probably benign	Het
Las1l	GA	GAGAA	X: 95,940,832		probably benign	Het
Las1l	A	AGGC	X: 95,940,833		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCAGCCAC	3: 93,018,148		probably benign	Het
Leo1	GGTACCATGCAG	GG	9: 75,450,572		probably benign	Het
Lrit3	CATA	CATAAATA	3: 129,803,910		probably benign	Homo
Lrmp	CACATTG	CACATTGAGGACATTG	6: 145,173,785		probably benign	Homo
Mamld1	GCAACA	GCAACAACA	X: 71,118,812		probably benign	Het
Mamld1	GCA	GCAACA	X: 71,118,818		probably benign	Het
Mast4	TGG	TGGGGGCGG	13: 102,736,312		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,739,247		probably null	Homo
Med12l	GCA	GCACCA	3: 59,275,977		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,702		probably benign	Het
Morf4l2	T	C	X: 136,733,622	K286E	probably benign	Het
Msantd4	A	T	9: 4,384,937	I221F	possibly damaging	Homo
Mup21	TT	TTTTTATATACT	4: 62,149,350		probably benign	Het
Nacad	A	ACCAGGG	11: 6,599,749		probably benign	Het
Nacad	TCAGGG	TCAGGGACAGGG	11: 6,599,756		probably benign	Het
Nacad	C	CAGGGTA	11: 6,599,763		probably benign	Het
Nars	CCACTCAC	CCAC	18: 64,510,445		probably benign	Homo
Ndufc2	C	T	7: 97,400,274	P29L	probably damaging	Het
Nkx2-6	C	T	14: 69,175,229	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,240,092		probably benign	Homo
Noc2l	CTG	CTGGTG	4: 156,240,098		probably benign	Het
Nolc1	CAG	CAGAAGCAGAAG	19: 46,081,356		probably benign	Het
Nolc1	AGC	AGCAGCAGCGGC	19: 46,081,375		probably benign	Het
Olfr313	T	A	11: 58,817,440	V144D	possibly damaging	Homo
Olfr418	GGGCTGCTTGTGGCAAT	G	1: 173,270,630		probably null	Het
Olfr547	A	AAACCG	7: 102,535,681		probably null	Homo
Olfr585	T	TTAC	7: 103,098,309		probably benign	Homo
Olfr624	AG	AGAGG	7: 103,670,966		probably benign	Homo
Patl2	CTG	CTGGTG	2: 122,126,139		probably benign	Het
Patl2	GCT	GCTTCT	2: 122,126,141		probably benign	Het
Patl2	GC	GCTTC	2: 122,126,144		probably benign	Het
Patl2	C	CTGA	2: 122,126,145		probably benign	Het
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,506		probably benign	Homo
Phc1	TG	TGCTGCGG	6: 122,323,600		probably benign	Het
Phf3	ACTGCCGCTCCCGCTCC	AC	1: 30,805,023		probably benign	Het
Pick1	TTC	TTCTC	15: 79,255,946		probably null	Homo
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,281,945		probably benign	Homo
Pik3c2g	AGAGG	AGAGGGAGG	6: 139,635,654		probably null	Homo
Pitrm1	TTTTA	T	13: 6,560,596		probably benign	Homo
Pogz	GTAAT	G	3: 94,874,695		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Ppp2r5c	G	T	12: 110,540,738		probably null	Homo
Prag1	CCGC	CCGCCGC	8: 36,103,883		probably benign	Homo
Prr13	CACT	CACTACT	15: 102,462,171		probably benign	Homo
Prr13	CTC	CTCTTC	15: 102,462,176		probably benign	Homo
Ptms	TCT	TCTCCT	6: 124,914,454		probably benign	Homo
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Raph1	GG	GGGGG	1: 60,489,267		probably benign	Homo
Rpa1	TGCTGCC	T	11: 75,318,519		probably benign	Het
Rpgrip1	GGA	GGATGA	14: 52,149,394		probably benign	Het
Rpgrip1	GGAAGAAGA	GGA	14: 52,149,544		probably benign	Het
Rps19	AGCGG	AG	7: 24,888,996		probably benign	Homo
Rsf1	G	GACC	7: 97,579,909		probably benign	Homo
Serpina3m	A	G	12: 104,358,623		probably null	Homo
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,785,307		probably benign	Homo
Setd1a	TAGTGGTGG	TAGTGGTGGGAGTGGTGG	7: 127,785,316		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,569,751		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,423,055		probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTGCCTGT	11: 32,423,060		probably benign	Homo
Shroom4	GCAGCAACA	GCA	X: 6,624,074		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,358		probably benign	Het
Six3	CG	CGGGG	17: 85,621,371		probably benign	Het
Skint8	C	T	4: 111,938,902	L258F	probably benign	Homo
Smoc2	AGTT	A	17: 14,401,562		probably benign	Homo
Smpx	CCCCCA	C	X: 157,720,924		probably benign	Homo
Snx1	TC	TCTGC	9: 66,104,929		probably benign	Homo
Snx1	C	CTTT	9: 66,104,930		probably benign	Homo
Sp110	CT	CTAAT	1: 85,587,489		probably benign	Het
Spaca1	GCTCTC	GCTCTCCCTCTC	4: 34,049,844		probably benign	Het
Spaca1	CGCTCT	CGCTCTTGCTCT	4: 34,049,849		probably benign	Het
Spag17	AGG	AGGTGG	3: 100,056,254		probably benign	Het
Spag17	GGA	GGACGA	3: 100,056,255		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Sry	T	TGGG	Y: 2,662,841		probably benign	Homo
Stard8	AGG	AGGTGG	X: 99,066,513		probably benign	Het
Stard8	AGG	AGGTGG	X: 99,066,525		probably benign	Het
Stk10	CCCA	C	11: 32,614,520		probably benign	Homo
Tap2	ACTG	ACTGCTG	17: 34,205,699		probably benign	Homo
Tbc1d5	G	C	17: 50,799,931	H532Q	probably benign	Homo
Tbc1d5	C	G	17: 50,799,943	Q528H	probably benign	Homo
Tfeb	GCA	GCAACA	17: 47,786,094		probably benign	Het
Tmcc1	G	A	6: 116,193,380		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,214,472		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,343,782		probably benign	Het
Trav15-2-dv6-2	GAA	GAATAA	14: 53,649,754		probably null	Het
Trav15-2-dv6-2	G	GAAC	14: 53,649,757		probably benign	Homo
Trim16	GTGA	GTGATGA	11: 62,820,689		probably benign	Homo
Tsen2	AGG	AGGCGG	6: 115,560,066		probably benign	Homo
Ubtf	TC	TCCGC	11: 102,306,959		probably benign	Het
Vmn1r124	G	T	7: 21,259,936	Q228K	possibly damaging	Het
Vmn1r71	A	C	7: 10,748,121	S147R	probably benign	Homo
Vmn2r99	G	A	17: 19,394,285	G756R	probably damaging	Homo
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Wdr75	AAATAA	AAA	1: 45,823,404		probably benign	Homo
Zfp111	T	G	7: 24,199,037	K383T	probably damaging	Homo
Zfp111	A	ATCG	7: 24,199,807		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp282	CGG	CGGTGG	6: 47,904,790		probably benign	Het
Zfp335	CTC	CTCTTC	2: 164,907,474		probably benign	Het
Zfp335	TCC	TCCACC	2: 164,907,478		probably benign	Het
Zfp459	TGA	TGAGAGA	13: 67,408,274		probably null	Homo
Zfp459	GA	GAGTTA	13: 67,408,275		probably null	Homo
Zfp459	A	AGTGG	13: 67,408,276		probably null	Homo
Zfp462	ACC	ACCTCAGCCACAGCCGCC	4: 55,009,760		probably benign	Het
Zfp462	CC	CCTCAGCCACAGCCATC	4: 55,009,761		probably benign	Het
Zfp598	CCACAGGC	CC	17: 24,679,372		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,782		probably benign	Het
Zfp683	AG	AGGGG	4: 134,058,879		probably benign	Homo

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
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

Predicted Primers

PCR Primer
(F):5'- CTTCTACAAGGAGGGGTGTTTC -3'
(R):5'- AGGTTTAGAGACCCACATCACAG -3'

Sequencing Primer
(F):5'- AGGGGTGTTTCTGGAATAAAGTCATC -3'
(R):5'- CACAGACTAACGAATGAAATGCTTTC -3'

Posted On

2018-04-05