|Institutional Source||Beutler Lab|
|Gene Name||collagen, type IV, alpha 4|
|Is this an essential gene?||Probably non essential (E-score: 0.104)|
|Stock #||R4833 (G1)|
|Chromosomal Location||82448423-82586849 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 82529602 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 252 (V252E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084282 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087050]|
AA Change: V252E
AA Change: V252E
|Meta Mutation Damage Score||0.1369|
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. 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. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col4a4||
(F):5'- TGAGCGTCAGCCAATTGAGG -3'
(R):5'- GTTGTCCCCAGATAATAACATTCTGG -3'
(F):5'- GCAGCTTTGGGAGTCACATGC -3'
(R):5'- TGTTTCAAGCCATATTTCACAGG -3'