Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00847:Col4a3'

12542

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col4a3

Ensembl Gene

ENSMUSG00000079465

Gene Name

collagen, type IV, alpha 3

Synonyms

tumstatin, alpha3(IV)

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00847

Quality Score

Status

Chromosome

Chromosomal Location

82564647-82699778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82695590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 1597 (L1597F)

Ref Sequence

ENSEMBL: ENSMUSP00000109084 (fasta)

Gene Model

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

AlphaFold

Q9QZS0

Predicted Effect

probably damaging
Transcript: ENSMUST00000113457
AA Change: L1597F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109084
Gene: ENSMUSG00000079465
AA Change: L1597F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187869

Coding Region Coverage

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,140,722 (GRCm39)	E142G	possibly damaging	Het
Arid4a	C	T	12: 71,122,492 (GRCm39)	P958S	probably damaging	Het
Cct5	T	C	15: 31,591,073 (GRCm39)		probably benign	Het
Cntnap4	C	T	8: 113,494,251 (GRCm39)		probably benign	Het
Gla	C	A	X: 133,495,947 (GRCm39)	V179L	probably benign	Het
Gm20422	A	T	8: 70,195,642 (GRCm39)	C212*	probably null	Het
Hace1	T	A	10: 45,548,453 (GRCm39)	Y14*	probably null	Het
Hcfc2	T	A	10: 82,577,112 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,874,038 (GRCm39)	D2152G	possibly damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mcm8	T	G	2: 132,661,594 (GRCm39)	L74V	probably benign	Het
Myo18b	A	G	5: 112,978,255 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,215,265 (GRCm38)	N1084I	probably damaging	Het
Rad21l	C	A	2: 151,502,635 (GRCm39)	A192S	probably benign	Het
Scn2a	A	G	2: 65,501,078 (GRCm39)	D80G	probably damaging	Het
Serpinb3c	A	G	1: 107,203,990 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,786,118 (GRCm39)		probably benign	Het
Slc25a41	G	T	17: 57,341,957 (GRCm39)		probably null	Het
Snx14	C	A	9: 88,302,382 (GRCm39)	R140S	probably damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Tlcd1	T	A	11: 78,070,914 (GRCm39)	Y168N	probably damaging	Het
Vps13d	A	G	4: 144,811,978 (GRCm39)	I3312T	probably benign	Het
Zfp11	A	G	5: 129,734,978 (GRCm39)	V161A	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
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
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

Posted On

2012-12-06