Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Col4a3'

54118

Institutional Source

Beutler Lab

Gene Symbol

Col4a3

Ensembl Gene

ENSMUSG00000079465

Gene Name

collagen, type IV, alpha 3

Synonyms

tumstatin, alpha3(IV)

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0606 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

82564647-82699778 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 82650307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109084 (fasta)

Gene Model

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

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Arhgap24	A	T	5: 103,045,086 (GRCm39)	R620W	probably damaging	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,087,974 (GRCm39)	L990H	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,877,364 (GRCm39)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,640,806 (GRCm39)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,296 (GRCm39)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nf2	A	G	11: 4,732,194 (GRCm39)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,716,455 (GRCm39)	F669L	probably benign	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,280,313 (GRCm39)	G45D	probably damaging	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,909,718 (GRCm39)		probably benign	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	probably benign	Het

Other mutations in Col4a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Col4a3	APN	1	82,675,475 (GRCm39)	missense	unknown
IGL00847:Col4a3	APN	1	82,695,590 (GRCm39)	missense	probably damaging	1.00
IGL01011:Col4a3	APN	1	82,660,022 (GRCm39)	missense	unknown
IGL01102:Col4a3	APN	1	82,647,976 (GRCm39)	missense	unknown
IGL01102:Col4a3	APN	1	82,647,441 (GRCm39)	missense	unknown
IGL02071:Col4a3	APN	1	82,638,608 (GRCm39)	critical splice donor site	probably null
IGL02244:Col4a3	APN	1	82,647,492 (GRCm39)	splice site	probably benign
IGL02380:Col4a3	APN	1	82,650,509 (GRCm39)	splice site	probably benign
IGL02431:Col4a3	APN	1	82,657,344 (GRCm39)	nonsense	probably null
IGL02466:Col4a3	APN	1	82,647,913 (GRCm39)	missense	unknown
IGL02694:Col4a3	APN	1	82,688,515 (GRCm39)	unclassified	probably benign
IGL02709:Col4a3	APN	1	82,656,833 (GRCm39)	missense	unknown
IGL02752:Col4a3	APN	1	82,637,946 (GRCm39)	missense	unknown
IGL02792:Col4a3	APN	1	82,696,524 (GRCm39)	missense	probably damaging	1.00
IGL03203:Col4a3	APN	1	82,650,360 (GRCm39)	nonsense	probably null
IGL03218:Col4a3	APN	1	82,620,927 (GRCm39)	splice site	probably benign
FR4976:Col4a3	UTSW	1	82,696,627 (GRCm39)	frame shift	probably null
PIT4260001:Col4a3	UTSW	1	82,660,482 (GRCm39)	missense	unknown
PIT4515001:Col4a3	UTSW	1	82,660,024 (GRCm39)	missense	unknown
R0035:Col4a3	UTSW	1	82,650,474 (GRCm39)	missense	unknown
R0099:Col4a3	UTSW	1	82,695,714 (GRCm39)	missense	probably benign	0.41
R0433:Col4a3	UTSW	1	82,647,940 (GRCm39)	missense	unknown
R0573:Col4a3	UTSW	1	82,694,084 (GRCm39)	missense	possibly damaging	0.83
R0715:Col4a3	UTSW	1	82,629,879 (GRCm39)	splice site	probably benign
R0961:Col4a3	UTSW	1	82,686,297 (GRCm39)	splice site	probably benign
R1257:Col4a3	UTSW	1	82,694,086 (GRCm39)	missense	probably damaging	1.00
R1264:Col4a3	UTSW	1	82,621,022 (GRCm39)	splice site	probably benign
R1373:Col4a3	UTSW	1	82,667,808 (GRCm39)	splice site	probably benign
R1694:Col4a3	UTSW	1	82,668,384 (GRCm39)	splice site	probably null
R1895:Col4a3	UTSW	1	82,656,829 (GRCm39)	missense	unknown
R1925:Col4a3	UTSW	1	82,689,595 (GRCm39)	unclassified	probably benign
R1925:Col4a3	UTSW	1	82,678,094 (GRCm39)	missense	unknown
R2033:Col4a3	UTSW	1	82,695,732 (GRCm39)	intron	probably benign
R2044:Col4a3	UTSW	1	82,674,040 (GRCm39)	missense	unknown
R2122:Col4a3	UTSW	1	82,632,678 (GRCm39)	missense	unknown
R2282:Col4a3	UTSW	1	82,686,359 (GRCm39)	missense	unknown
R2318:Col4a3	UTSW	1	82,626,290 (GRCm39)	splice site	probably null
R2421:Col4a3	UTSW	1	82,647,996 (GRCm39)	splice site	probably benign
R2517:Col4a3	UTSW	1	82,658,431 (GRCm39)	missense	unknown
R2965:Col4a3	UTSW	1	82,626,321 (GRCm39)	missense	unknown
R3085:Col4a3	UTSW	1	82,628,979 (GRCm39)	missense	unknown
R3150:Col4a3	UTSW	1	82,634,858 (GRCm39)	splice site	probably null
R3947:Col4a3	UTSW	1	82,693,053 (GRCm39)	missense	probably damaging	1.00
R4756:Col4a3	UTSW	1	82,694,018 (GRCm39)	critical splice acceptor site	probably null
R4910:Col4a3	UTSW	1	82,650,400 (GRCm39)	missense	unknown
R4928:Col4a3	UTSW	1	82,688,698 (GRCm39)	unclassified	probably benign
R5044:Col4a3	UTSW	1	82,644,267 (GRCm39)	missense	unknown
R5557:Col4a3	UTSW	1	82,692,968 (GRCm39)	unclassified	probably benign
R5761:Col4a3	UTSW	1	82,693,778 (GRCm39)	nonsense	probably null
R5970:Col4a3	UTSW	1	82,694,050 (GRCm39)	missense	possibly damaging	0.76
R6576:Col4a3	UTSW	1	82,686,295 (GRCm39)	splice site	probably null
R6583:Col4a3	UTSW	1	82,619,197 (GRCm39)	missense	unknown
R6675:Col4a3	UTSW	1	82,646,646 (GRCm39)	missense	unknown
R7170:Col4a3	UTSW	1	82,693,630 (GRCm39)	splice site	probably null
R7592:Col4a3	UTSW	1	82,626,338 (GRCm39)	missense	unknown
R7624:Col4a3	UTSW	1	82,696,605 (GRCm39)	missense	probably benign
R7994:Col4a3	UTSW	1	82,640,627 (GRCm39)	missense	unknown
R8127:Col4a3	UTSW	1	82,627,481 (GRCm39)	missense	unknown
R8702:Col4a3	UTSW	1	82,688,700 (GRCm39)	missense	unknown
R8865:Col4a3	UTSW	1	82,647,483 (GRCm39)	critical splice donor site	probably null
R8973:Col4a3	UTSW	1	82,693,052 (GRCm39)	missense	probably benign	0.11
R9611:Col4a3	UTSW	1	82,678,018 (GRCm39)	missense	unknown
R9665:Col4a3	UTSW	1	82,668,301 (GRCm39)	missense	unknown
R9765:Col4a3	UTSW	1	82,646,678 (GRCm39)	nonsense	probably null
X0067:Col4a3	UTSW	1	82,693,880 (GRCm39)	missense	probably damaging	0.99
Z1177:Col4a3	UTSW	1	82,667,760 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTGAGCTGTCTACTCAGCCAGAG -3'
(R):5'- CCACTGGGCTAAGCCACTAAAAGG -3'

Sequencing Primer
(F):5'- TGTCTACTCAGCCAGAGTTACAG -3'
(R):5'- GTGTTGTCTAGAGTGGAAAACC -3'

Posted On

2013-07-11