Mutagenetix > Incidental Mutation

Incidental Mutation 'R2044:Col4a3'

221558

Institutional Source

Beutler Lab

Gene Symbol

Col4a3

Ensembl Gene

ENSMUSG00000079465

Gene Name

collagen, type IV, alpha 3

Synonyms

tumstatin, alpha3(IV)

MMRRC Submission

040051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2044 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82564647-82699778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82674040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 1132 (G1132E)

Ref Sequence

ENSEMBL: ENSMUSP00000109084 (fasta)

Gene Model

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

AlphaFold

Q9QZS0

Predicted Effect

unknown
Transcript: ENSMUST00000113457
AA Change: G1132E

SMART Domains

Protein: ENSMUSP00000109084
Gene: ENSMUSG00000079465
AA Change: G1132E

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

noncoding transcript
Transcript: ENSMUST00000181720

Meta Mutation Damage Score

0.9411

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (92/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 37,288,986 (GRCm39)		probably benign	Het
Abhd15	A	G	11: 77,409,164 (GRCm39)	T293A	probably benign	Het
Aldh1l1	C	T	6: 90,539,647 (GRCm39)	P192L	probably benign	Het
Aldoart1	T	G	4: 72,770,779 (GRCm39)	I10L	probably benign	Het
Ankhd1	G	A	18: 36,778,166 (GRCm39)	G1653D	probably benign	Het
Ankk1	A	C	9: 49,330,664 (GRCm39)		probably null	Het
Astn1	A	G	1: 158,428,072 (GRCm39)	T748A	possibly damaging	Het
Bmp7	C	A	2: 172,781,708 (GRCm39)	R52L	possibly damaging	Het
Ccdc33	G	A	9: 57,938,395 (GRCm39)	P859S	possibly damaging	Het
Ccny	A	G	18: 9,449,644 (GRCm39)	S10P	probably damaging	Het
Cdc6	C	A	11: 98,801,287 (GRCm39)	F179L	probably benign	Het
Cdc7	T	A	5: 107,130,998 (GRCm39)	V491E	probably benign	Het
Cdh23	G	T	10: 60,432,509 (GRCm39)	S138R	possibly damaging	Het
Cenpc1	T	C	5: 86,185,614 (GRCm39)	H299R	probably benign	Het
Ciart	A	T	3: 95,786,013 (GRCm39)	M354K	probably benign	Het
Clasrp	G	T	7: 19,320,640 (GRCm39)		probably benign	Het
Crebbp	G	A	16: 3,902,687 (GRCm39)	T2184I	probably benign	Het
Cyp2r1	A	C	7: 114,149,640 (GRCm39)	M458R	probably damaging	Het
Cyp7a1	C	A	4: 6,275,492 (GRCm39)	R27M	probably null	Het
Ddhd2	A	G	8: 26,242,192 (GRCm39)	F116L	probably damaging	Het
Dgkd	G	A	1: 87,855,413 (GRCm39)	R685K	probably benign	Het
Dnah2	A	G	11: 69,415,066 (GRCm39)	S223P	probably benign	Het
Exph5	A	T	9: 53,283,979 (GRCm39)	R353S	possibly damaging	Het
F11	C	A	8: 45,705,155 (GRCm39)	V129F	probably benign	Het
F830045P16Rik	A	T	2: 129,301,317 (GRCm39)	S454T	possibly damaging	Het
Fam124a	T	C	14: 62,824,656 (GRCm39)	I50T	probably damaging	Het
Fam20c	T	C	5: 138,741,982 (GRCm39)		probably null	Het
Fam234b	A	G	6: 135,203,912 (GRCm39)	T405A	probably benign	Het
Fbh1	C	A	2: 11,767,781 (GRCm39)	V356L	possibly damaging	Het
Flywch1	G	A	17: 23,981,287 (GRCm39)	Q132*	probably null	Het
Foxo6	T	C	4: 120,144,166 (GRCm39)	D95G	probably benign	Het
Ggt5	T	C	10: 75,439,921 (GRCm39)	F174S	probably damaging	Het
Gm7104	G	A	12: 88,252,551 (GRCm39)		noncoding transcript	Het
Gpr155	A	G	2: 73,203,977 (GRCm39)	L279P	probably damaging	Het
H2-T23	A	G	17: 36,343,083 (GRCm39)	L98P	probably damaging	Het
H4c16	G	C	6: 136,781,101 (GRCm39)	R93G	possibly damaging	Het
Heatr5a	A	G	12: 52,002,186 (GRCm39)	V250A	probably benign	Het
Heyl	A	T	4: 123,135,156 (GRCm39)	I50F	probably damaging	Het
Ifitm10	A	T	7: 141,909,771 (GRCm39)	S179R	probably damaging	Het
Isg15	A	T	4: 156,284,249 (GRCm39)	I93N	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itga10	G	A	3: 96,565,006 (GRCm39)	V985I	probably benign	Het
Kcnt2	T	C	1: 140,302,892 (GRCm39)	I144T	probably benign	Het
Klk1	A	C	7: 43,878,458 (GRCm39)	K104T	possibly damaging	Het
Lemd3	C	A	10: 120,769,347 (GRCm39)	R654L	probably damaging	Het
Lmod1	A	T	1: 135,292,125 (GRCm39)	M327L	probably benign	Het
Lonrf2	T	C	1: 38,846,131 (GRCm39)	E347G	probably benign	Het
Ltbp1	A	G	17: 75,583,427 (GRCm39)	Y409C	probably damaging	Het
Mecom	A	T	3: 30,034,741 (GRCm39)	Y312N	probably damaging	Het
Mmut	A	G	17: 41,252,342 (GRCm39)	T295A	probably benign	Het
Mrgprb3	C	T	7: 48,293,482 (GRCm39)	C23Y	possibly damaging	Het
Nadk	C	A	4: 155,669,898 (GRCm39)	L194I	probably damaging	Het
Naxd	A	G	8: 11,559,510 (GRCm39)	I182V	probably benign	Het
Nbeal1	T	A	1: 60,358,846 (GRCm39)	I1176K	probably damaging	Het
Nol4l	C	A	2: 153,371,441 (GRCm39)	R81L	possibly damaging	Het
Odad3	T	G	9: 21,903,154 (GRCm39)	T419P	possibly damaging	Het
Or4k47	T	A	2: 111,452,159 (GRCm39)	R87W	probably benign	Het
Or8g36	A	T	9: 39,422,674 (GRCm39)	M114K	probably damaging	Het
Or9s15	G	T	1: 92,524,691 (GRCm39)	R150L	probably benign	Het
Pcdh18	A	G	3: 49,709,389 (GRCm39)	V642A	probably benign	Het
Pdzk1	G	A	3: 96,763,164 (GRCm39)		probably benign	Het
Per3	C	T	4: 151,118,395 (GRCm39)	V233I	probably benign	Het
Pisd	G	A	5: 32,922,140 (GRCm39)	P267S	possibly damaging	Het
Prm1	T	A	16: 10,614,357 (GRCm39)		probably benign	Het
Ptprj	A	G	2: 90,293,439 (GRCm39)	V548A	probably damaging	Het
Ranbp3	G	A	17: 56,980,367 (GRCm39)		probably benign	Het
Raver2	T	A	4: 100,960,009 (GRCm39)	V163D	probably damaging	Het
Rbm14	A	T	19: 4,853,905 (GRCm39)	I159N	possibly damaging	Het
Rfx6	G	A	10: 51,594,222 (GRCm39)	V381I	probably benign	Het
Rhobtb1	T	C	10: 69,108,693 (GRCm39)		probably benign	Het
Rpl28-ps4	T	A	6: 117,190,856 (GRCm39)		noncoding transcript	Het
Rsph10b	A	G	5: 143,904,068 (GRCm39)		probably null	Het
Rspo4	A	G	2: 151,715,013 (GRCm39)	K217E	unknown	Het
Scgb2b27	G	A	7: 33,712,710 (GRCm39)	A44V	possibly damaging	Het
Sec14l2	G	A	11: 4,061,435 (GRCm39)		probably benign	Het
Sec31b	T	C	19: 44,524,595 (GRCm39)	N101D	probably benign	Het
Sema6a	A	T	18: 47,439,496 (GRCm39)	C9*	probably null	Het
Septin5	A	C	16: 18,441,762 (GRCm39)	L331R	probably benign	Het
Slc16a11	C	A	11: 70,106,477 (GRCm39)	Y238*	probably null	Het
Slc25a12	T	C	2: 71,142,892 (GRCm39)	T210A	probably benign	Het
Slc35f1	A	T	10: 52,965,443 (GRCm39)	Y286F	probably damaging	Het
Szt2	A	T	4: 118,233,645 (GRCm39)	L2225*	probably null	Het
Thap12	T	C	7: 98,365,827 (GRCm39)	L665P	probably damaging	Het
Tpsb2	T	A	17: 25,586,698 (GRCm39)	W237R	probably damaging	Het
Tyk2	T	C	9: 21,031,637 (GRCm39)	D451G	probably damaging	Het
Ube2j1	T	A	4: 33,049,696 (GRCm39)	N231K	probably benign	Het
Vmn1r225	A	T	17: 20,722,852 (GRCm39)	T98S	possibly damaging	Het
Vmn1r87	A	T	7: 12,865,748 (GRCm39)	S180T	probably benign	Het
Vmn2r6	A	G	3: 64,445,262 (GRCm39)	V821A	probably damaging	Het
Zfp689	C	A	7: 127,043,998 (GRCm39)	G211C	probably damaging	Het
Zfp827	A	G	8: 79,802,865 (GRCm39)	D479G	probably benign	Het
Zfp995	A	C	17: 22,099,575 (GRCm39)	F220V	probably damaging	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
R0606:Col4a3	UTSW	1	82,650,307 (GRCm39)	splice site	probably benign
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
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'- GGTTTCCAGGAGAATGCTTTTCAG -3'
(R):5'- TCCTGAGATGACCATGATACTGAC -3'

Sequencing Primer
(F):5'- AGGTGACCTGTCAGGAATTTCC -3'
(R):5'- CTGACAGATACTTCAATTAGGGAGTG -3'

Posted On

2014-08-25