Incidental Mutation 'R7170:Col4a3'
ID 574645
Institutional Source Beutler Lab
Gene Symbol Col4a3
Ensembl Gene ENSMUSG00000079465
Gene Name collagen, type IV, alpha 3
Synonyms tumstatin, alpha3(IV)
MMRRC Submission 045332-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7170 (G1)
Quality Score 182.009
Status Validated
Chromosome 1
Chromosomal Location 82564647-82699778 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 82693630 bp (GRCm39)
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 null
Transcript: ENSMUST00000113457
SMART Domains Protein: ENSMUSP00000109084
Gene: ENSMUSG00000079465

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:C4 8 60 4.7e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000152664
SMART Domains Protein: ENSMUSP00000119094
Gene: ENSMUSG00000079465

DomainStartEndE-ValueType
C4 8 117 3.77e-70 SMART
Pfam:C4 118 169 4.1e-14 PFAM
low complexity region 185 196 N/A INTRINSIC
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,836,654 (GRCm39) T1214A probably benign Het
Acte1 T C 7: 143,450,102 (GRCm39) S285P probably damaging Het
Adgrf5 G A 17: 43,757,029 (GRCm39) V708M possibly damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ankrd7 T A 6: 18,868,389 (GRCm39) Y170* probably null Het
Aplp2 T C 9: 31,081,739 (GRCm39) D236G probably benign Het
Apoa5 T C 9: 46,181,437 (GRCm39) M171T probably benign Het
Bcas3 T C 11: 85,386,744 (GRCm39) V393A probably damaging Het
Ccdc47 T C 11: 106,093,304 (GRCm39) N370S probably benign Het
Cfap77 A T 2: 28,875,854 (GRCm39) Y85* probably null Het
Crnn T A 3: 93,056,020 (GRCm39) S269T possibly damaging Het
Crocc2 G A 1: 93,121,704 (GRCm39) A618T possibly damaging Het
D030056L22Rik A G 19: 18,690,737 (GRCm39) K17R possibly damaging Het
Emx1 G A 6: 85,164,983 (GRCm39) G20D probably benign Het
Fabp3 A G 4: 130,207,763 (GRCm39) D88G probably benign Het
Fam124a A C 14: 62,824,629 (GRCm39) D41A probably damaging Het
Fanca T C 8: 123,997,945 (GRCm39) E1247G probably damaging Het
Fat3 T C 9: 15,917,870 (GRCm39) R1518G probably damaging Het
Fgf12 T C 16: 28,263,931 (GRCm39) I5V probably benign Het
Fscn2 C A 11: 120,253,335 (GRCm39) N267K probably damaging Het
Ftdc1 G T 16: 58,436,091 (GRCm39) C77* probably null Het
Fubp3 A G 2: 31,488,632 (GRCm39) T163A probably benign Het
Gask1a G T 9: 121,807,301 (GRCm39) A482S probably damaging Het
Gne A G 4: 44,040,361 (GRCm39) L601P possibly damaging Het
Gphn T C 12: 78,730,663 (GRCm39) V766A possibly damaging Het
Hsf1 G T 15: 76,384,221 (GRCm39) G402C probably damaging Het
Ift81 A T 5: 122,693,596 (GRCm39) Y604* probably null Het
Iqgap3 T A 3: 88,009,370 (GRCm39) I768N probably damaging Het
Kazald1 A T 19: 45,066,855 (GRCm39) D218V probably benign Het
Kmt2a T C 9: 44,722,018 (GRCm39) N3776D unknown Het
Ktn1 T C 14: 47,943,867 (GRCm39) L872S probably damaging Het
Lama3 T G 18: 12,537,133 (GRCm39) F259L probably benign Het
Mfsd6 A G 1: 52,701,547 (GRCm39) probably null Het
Mical3 A T 6: 120,950,694 (GRCm39) probably null Het
Mob3b A G 4: 35,083,839 (GRCm39) Y117H probably damaging Het
Mrpl2 G A 17: 46,959,181 (GRCm39) G95D probably damaging Het
Mstn A T 1: 53,105,554 (GRCm39) I299F probably damaging Het
Mta3 C T 17: 84,022,091 (GRCm39) R49W probably damaging Het
Mylk3 A G 8: 86,077,114 (GRCm39) F574L probably damaging Het
Naca T A 10: 127,875,990 (GRCm39) S341T unknown Het
Ncoa1 T C 12: 4,299,722 (GRCm39) D1401G probably benign Het
Nedd4 T A 9: 72,577,381 (GRCm39) Y69N probably benign Het
Nin T C 12: 70,091,013 (GRCm39) T801A Het
Nsd1 T A 13: 55,409,439 (GRCm39) L1336* probably null Het
Nudt16l2 C A 9: 105,020,600 (GRCm39) probably null Het
Oprk1 G A 1: 5,672,619 (GRCm39) R252H probably damaging Het
Or4c10b A T 2: 89,711,397 (GRCm39) T76S possibly damaging Het
Or4c10b A G 2: 89,711,185 (GRCm39) N5S probably benign Het
Or5w15 C T 2: 87,568,056 (GRCm39) G204D probably damaging Het
Pcdhga11 T C 18: 37,889,717 (GRCm39) F242L probably damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pold1 T C 7: 44,191,572 (GRCm39) H138R possibly damaging Het
Ptprd A T 4: 75,990,199 (GRCm39) D504E probably benign Het
Rabgap1l A G 1: 160,472,935 (GRCm39) V501A probably damaging Het
Rimklb T C 6: 122,429,697 (GRCm39) N233S probably benign Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rora T A 9: 69,280,472 (GRCm39) C348* probably null Het
Sdhaf3 T C 6: 6,956,043 (GRCm39) V6A probably benign Het
Serpina3m T A 12: 104,355,777 (GRCm39) L148Q probably damaging Het
Sik1 T C 17: 32,067,746 (GRCm39) D443G possibly damaging Het
Sim2 A G 16: 93,923,559 (GRCm39) T366A probably benign Het
Slc32a1 T C 2: 158,453,243 (GRCm39) F28L probably damaging Het
Sorbs1 A T 19: 40,314,573 (GRCm39) Y746* probably null Het
Speer4b T A 5: 27,703,821 (GRCm39) N106I possibly damaging Het
Sphkap A G 1: 83,243,706 (GRCm39) S1269P probably damaging Het
Tcf4 T C 18: 69,766,649 (GRCm39) V205A probably damaging Het
Thsd7a C T 6: 12,352,090 (GRCm39) R1035H Het
Tmprss11c A T 5: 86,385,478 (GRCm39) probably null Het
Trim50 A G 5: 135,396,365 (GRCm39) T438A probably benign Het
Ttc21a C T 9: 119,774,607 (GRCm39) P287L probably damaging Het
Ttc41 C T 10: 86,549,367 (GRCm39) S187L probably benign Het
Ttll3 C T 6: 113,390,839 (GRCm39) P807L probably benign Het
Ttn A C 2: 76,597,696 (GRCm39) V19739G probably benign Het
Usp15 C A 10: 123,007,100 (GRCm39) C127F probably damaging Het
Vmn2r100 G T 17: 19,752,233 (GRCm39) A822S probably benign Het
Zan A T 5: 137,461,756 (GRCm39) V1141D unknown Het
Zfp457 A T 13: 67,442,241 (GRCm39) C111* probably null Het
Zfp758 C T 17: 22,594,116 (GRCm39) Q201* probably null Het
Zkscan2 T C 7: 123,099,030 (GRCm39) E54G possibly damaging Het
Other mutations in Col4a3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGCAAAGACATTGTCCCAGCAG -3'
(R):5'- TGGTGTTGACAGCCAGTATG -3'

Sequencing Primer
(F):5'- TTGTCCCAGCAGAACAATATCGGG -3'
(R):5'- GGTGTTGACAGCCAGTATGAATAATC -3'
Posted On 2019-09-27