Incidental Mutation 'R0511:Col4a1'
ID 46913
Institutional Source Beutler Lab
Gene Symbol Col4a1
Ensembl Gene ENSMUSG00000031502
Gene Name collagen, type IV, alpha 1
Synonyms Del(8)Bru44H, Del(8)44H, alpha1(IV) collagen, Col4a-1, Bru, Svc, Raw
MMRRC Submission 038705-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0511 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 11248423-11362826 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 11258333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033898] [ENSMUST00000033898] [ENSMUST00000209735] [ENSMUST00000209735]
AlphaFold P02463
Predicted Effect probably null
Transcript: ENSMUST00000033898
SMART Domains Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 28 43 N/A INTRINSIC
internal_repeat_2 49 89 2.1e-8 PROSPERO
Pfam:Collagen 103 163 6.1e-11 PFAM
Pfam:Collagen 167 225 7.8e-10 PFAM
low complexity region 232 248 N/A INTRINSIC
Pfam:Collagen 274 334 1.7e-11 PFAM
low complexity region 356 389 N/A INTRINSIC
low complexity region 404 426 N/A INTRINSIC
low complexity region 435 455 N/A INTRINSIC
Pfam:Collagen 472 533 7.3e-12 PFAM
Pfam:Collagen 539 597 4.8e-9 PFAM
low complexity region 600 636 N/A INTRINSIC
Pfam:Collagen 642 689 4.5e-8 PFAM
Pfam:Collagen 689 746 3.5e-8 PFAM
Pfam:Collagen 736 800 2.2e-9 PFAM
Pfam:Collagen 837 896 5.2e-11 PFAM
Pfam:Collagen 882 940 1.9e-10 PFAM
Pfam:Collagen 943 1007 1.7e-10 PFAM
Pfam:Collagen 996 1058 2e-9 PFAM
Pfam:Collagen 1057 1121 1.5e-10 PFAM
low complexity region 1133 1148 N/A INTRINSIC
Pfam:Collagen 1174 1233 8.6e-11 PFAM
low complexity region 1236 1266 N/A INTRINSIC
Pfam:Collagen 1269 1337 1e-8 PFAM
Pfam:Collagen 1290 1354 2.2e-9 PFAM
Pfam:Collagen 1384 1443 1e-10 PFAM
C4 1445 1554 3.49e-65 SMART
C4 1555 1668 1.53e-79 SMART
Predicted Effect probably null
Transcript: ENSMUST00000033898
SMART Domains Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 28 43 N/A INTRINSIC
internal_repeat_2 49 89 2.1e-8 PROSPERO
Pfam:Collagen 103 163 6.1e-11 PFAM
Pfam:Collagen 167 225 7.8e-10 PFAM
low complexity region 232 248 N/A INTRINSIC
Pfam:Collagen 274 334 1.7e-11 PFAM
low complexity region 356 389 N/A INTRINSIC
low complexity region 404 426 N/A INTRINSIC
low complexity region 435 455 N/A INTRINSIC
Pfam:Collagen 472 533 7.3e-12 PFAM
Pfam:Collagen 539 597 4.8e-9 PFAM
low complexity region 600 636 N/A INTRINSIC
Pfam:Collagen 642 689 4.5e-8 PFAM
Pfam:Collagen 689 746 3.5e-8 PFAM
Pfam:Collagen 736 800 2.2e-9 PFAM
Pfam:Collagen 837 896 5.2e-11 PFAM
Pfam:Collagen 882 940 1.9e-10 PFAM
Pfam:Collagen 943 1007 1.7e-10 PFAM
Pfam:Collagen 996 1058 2e-9 PFAM
Pfam:Collagen 1057 1121 1.5e-10 PFAM
low complexity region 1133 1148 N/A INTRINSIC
Pfam:Collagen 1174 1233 8.6e-11 PFAM
low complexity region 1236 1266 N/A INTRINSIC
Pfam:Collagen 1269 1337 1e-8 PFAM
Pfam:Collagen 1290 1354 2.2e-9 PFAM
Pfam:Collagen 1384 1443 1e-10 PFAM
C4 1445 1554 3.49e-65 SMART
C4 1555 1668 1.53e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151014
Predicted Effect probably null
Transcript: ENSMUST00000209598
Predicted Effect probably null
Transcript: ENSMUST00000209598
Predicted Effect probably null
Transcript: ENSMUST00000209598
Predicted Effect probably null
Transcript: ENSMUST00000209598
Predicted Effect probably benign
Transcript: ENSMUST00000209735
Predicted Effect probably benign
Transcript: ENSMUST00000209735
Meta Mutation Damage Score 0.9560 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (116/116)
MGI Phenotype FUNCTION: This gene encodes the alpha-1 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of two alpha-1 and one alpha-2 subunits that assembles into a type IV collagen network. This gene is located adjacent to the gene encoding alpha-2 subunit. Mice lacking both the alpha-1 and alpha-2 subunits of collagen IV die in utero due to structural deficiencies in the basement membranes and certain mutations in this gene cause perinatal cerebral hemorrhage and porencephaly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,843,771 (GRCm39) H155R possibly damaging Het
Abca13 G T 11: 9,244,559 (GRCm39) V2141L probably benign Het
Adam17 T C 12: 21,390,459 (GRCm39) probably benign Het
Adam3 A T 8: 25,185,331 (GRCm39) C456S probably damaging Het
Aldh4a1 G T 4: 139,369,882 (GRCm39) probably benign Het
Anapc4 A G 5: 52,999,359 (GRCm39) probably benign Het
Ank3 A T 10: 69,718,198 (GRCm39) Q483L probably damaging Het
Ankle2 A G 5: 110,389,925 (GRCm39) probably benign Het
Ankrd13b T A 11: 77,364,114 (GRCm39) T150S possibly damaging Het
Apeh A G 9: 107,964,254 (GRCm39) M524T probably benign Het
Arl14epl T A 18: 47,059,484 (GRCm39) probably null Het
Atg2a T C 19: 6,302,569 (GRCm39) F964S possibly damaging Het
Atg2b C T 12: 105,583,412 (GRCm39) V2050M probably damaging Het
Atp2b4 A T 1: 133,659,956 (GRCm39) probably benign Het
Bbof1 T A 12: 84,477,045 (GRCm39) S512T probably benign Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Car10 T C 11: 93,381,408 (GRCm39) Y100H probably damaging Het
Ccdc81 T A 7: 89,542,504 (GRCm39) E124V probably damaging Het
Cd84 A G 1: 171,700,494 (GRCm39) T204A probably benign Het
Celf2 A G 2: 6,608,987 (GRCm39) S178P probably damaging Het
Chat G A 14: 32,130,976 (GRCm39) T555M probably damaging Het
Chd6 A G 2: 160,834,111 (GRCm39) F917S probably damaging Het
Chrna2 C A 14: 66,386,553 (GRCm39) T233N probably damaging Het
Cnpy2 T C 10: 128,162,054 (GRCm39) V109A probably benign Het
Csmd1 C T 8: 15,982,529 (GRCm39) V2713M possibly damaging Het
Cuedc1 G A 11: 88,074,231 (GRCm39) R255Q probably damaging Het
Cxcl15 A T 5: 90,945,897 (GRCm39) probably benign Het
Dach1 A T 14: 98,138,765 (GRCm39) H559Q possibly damaging Het
Dele1 T C 18: 38,387,124 (GRCm39) probably null Het
Dennd4c C T 4: 86,744,259 (GRCm39) T1367M probably damaging Het
Depdc5 T A 5: 33,102,372 (GRCm39) Y365* probably null Het
Dicer1 T C 12: 104,669,100 (GRCm39) Y1194C possibly damaging Het
Dmxl1 C G 18: 50,024,534 (GRCm39) S1736* probably null Het
Dnah7a C T 1: 53,536,285 (GRCm39) R2586K probably benign Het
Dnajb8 T C 6: 88,199,467 (GRCm39) M1T probably null Het
Dync2h1 G A 9: 7,122,692 (GRCm39) P2088L probably benign Het
Eftud2 T G 11: 102,735,048 (GRCm39) H617P probably damaging Het
Ephb1 A G 9: 101,873,179 (GRCm39) probably benign Het
Fam184a G T 10: 53,574,975 (GRCm39) H155Q probably benign Het
Firrm T C 1: 163,799,412 (GRCm39) probably null Het
Ganc G T 2: 120,278,882 (GRCm39) E700* probably null Het
Gm10912 A G 2: 103,897,290 (GRCm39) probably benign Het
Haus5 A T 7: 30,358,492 (GRCm39) I294N probably damaging Het
Hmgcr G T 13: 96,796,651 (GRCm39) probably null Het
Hr T A 14: 70,799,352 (GRCm39) C641* probably null Het
Itga10 A G 3: 96,565,490 (GRCm39) N1038S probably damaging Het
Itgb1bp1 T G 12: 21,321,436 (GRCm39) Y172S probably damaging Het
Kprp T C 3: 92,732,030 (GRCm39) N340S probably damaging Het
Kremen1 A G 11: 5,165,447 (GRCm39) I41T probably damaging Het
Krt6b A G 15: 101,586,042 (GRCm39) probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Ldhd A G 8: 112,356,309 (GRCm39) Y86H probably benign Het
Lilra6 A T 7: 3,915,784 (GRCm39) I76N possibly damaging Het
Mak T C 13: 41,199,743 (GRCm39) T299A probably benign Het
Med25 A G 7: 44,534,502 (GRCm39) probably null Het
Mpg A T 11: 32,180,039 (GRCm39) N189I probably damaging Het
Mroh8 A G 2: 157,071,838 (GRCm39) Y556H probably damaging Het
Myh8 T A 11: 67,175,333 (GRCm39) S294T probably benign Het
Myom1 T A 17: 71,391,312 (GRCm39) D842E probably benign Het
Myorg A G 4: 41,498,538 (GRCm39) F364S probably damaging Het
Nat2 C T 8: 67,953,982 (GRCm39) Q31* probably null Het
Nf1 T A 11: 79,329,595 (GRCm39) M653K probably benign Het
Nhs C A X: 160,620,355 (GRCm39) R1467I probably damaging Het
Npr2 A G 4: 43,632,801 (GRCm39) E206G probably benign Het
Nsd3 G A 8: 26,168,732 (GRCm39) G629D possibly damaging Het
Nwd1 G A 8: 73,408,633 (GRCm39) C831Y probably damaging Het
Or52r1c T C 7: 102,735,058 (GRCm39) I111T probably damaging Het
Or5t9 A G 2: 86,659,950 (GRCm39) I285V probably benign Het
P2ry14 A G 3: 59,023,449 (GRCm39) S4P possibly damaging Het
Parp4 A G 14: 56,873,172 (GRCm39) probably benign Het
Pate14 A T 9: 36,549,873 (GRCm39) probably null Het
Pclo A G 5: 14,728,299 (GRCm39) probably benign Het
Pclo T C 5: 14,729,412 (GRCm39) probably benign Het
Pcnt A T 10: 76,240,429 (GRCm39) S1202T possibly damaging Het
Pfkfb4 A G 9: 108,856,825 (GRCm39) Y412C probably damaging Het
Pgm2 T A 5: 64,267,898 (GRCm39) V449D probably damaging Het
Poldip3 T A 15: 83,022,436 (GRCm39) D116V probably damaging Het
Pom121 G T 5: 135,410,686 (GRCm39) Q824K unknown Het
Prkdc G T 16: 15,649,146 (GRCm39) G3707* probably null Het
Prr14l T C 5: 33,001,560 (GRCm39) probably benign Het
Ptbp2 T G 3: 119,514,613 (GRCm39) I405L probably benign Het
Rad21l A T 2: 151,490,989 (GRCm39) probably benign Het
Rbm6 G A 9: 107,724,488 (GRCm39) Q488* probably null Het
Rdh1 T A 10: 127,600,652 (GRCm39) M225K probably benign Het
Recql5 T C 11: 115,819,209 (GRCm39) D119G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Robo1 T C 16: 72,810,013 (GRCm39) probably null Het
Samd12 G A 15: 53,723,567 (GRCm39) T42I probably benign Het
Scn10a A T 9: 119,442,766 (GRCm39) M1494K probably damaging Het
Sec31a G A 5: 100,523,099 (GRCm39) P864L probably benign Het
Senp2 T C 16: 21,855,320 (GRCm39) V344A probably benign Het
Serpina5 G A 12: 104,069,621 (GRCm39) D278N probably benign Het
Sh3tc1 A T 5: 35,860,806 (GRCm39) V1017D probably damaging Het
Sin3a T A 9: 57,004,179 (GRCm39) Y310* probably null Het
Slc25a32 T C 15: 38,960,940 (GRCm39) T248A probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc4a10 G A 2: 62,117,206 (GRCm39) V722M probably damaging Het
Slco1a4 A G 6: 141,776,586 (GRCm39) probably benign Het
Smg6 T A 11: 74,819,884 (GRCm39) Y52N probably damaging Het
Sncb T G 13: 54,913,400 (GRCm39) T33P probably damaging Het
Spef2 A G 15: 9,584,070 (GRCm39) probably null Het
Spmip1 G T 6: 29,478,169 (GRCm39) probably benign Het
Sugp1 A G 8: 70,512,013 (GRCm39) E203G probably damaging Het
Suv39h2 A T 2: 3,473,616 (GRCm39) C105S probably damaging Het
Tlr1 A T 5: 65,083,963 (GRCm39) F205I probably damaging Het
Tnip1 A T 11: 54,808,699 (GRCm39) M496K probably damaging Het
Tnxb G A 17: 34,937,219 (GRCm39) E2889K probably damaging Het
Trim30b T A 7: 104,015,010 (GRCm39) H126L possibly damaging Het
Trpm7 A T 2: 126,668,638 (GRCm39) Y759* probably null Het
Ttc17 A G 2: 94,153,465 (GRCm39) I1000T possibly damaging Het
Ttc27 A T 17: 75,025,710 (GRCm39) N61I probably benign Het
Uba6 T C 5: 86,260,609 (GRCm39) Y990C probably damaging Het
Vav3 A G 3: 109,571,756 (GRCm39) probably benign Het
Vmn2r55 C T 7: 12,404,945 (GRCm39) A153T possibly damaging Het
Wars2 A G 3: 99,123,865 (GRCm39) D242G probably damaging Het
Xylt2 G A 11: 94,560,762 (GRCm39) Q259* probably null Het
Zfp27 G A 7: 29,593,947 (GRCm39) P673S probably damaging Het
Zgrf1 T C 3: 127,378,309 (GRCm39) I1023T possibly damaging Het
Other mutations in Col4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Col4a1 APN 8 11,290,077 (GRCm39) splice site probably benign
IGL00503:Col4a1 APN 8 11,290,076 (GRCm39) splice site probably benign
IGL00938:Col4a1 APN 8 11,286,456 (GRCm39) intron probably benign
IGL01295:Col4a1 APN 8 11,286,075 (GRCm39) intron probably benign
IGL01406:Col4a1 APN 8 11,268,898 (GRCm39) missense probably damaging 1.00
IGL01807:Col4a1 APN 8 11,297,056 (GRCm39) utr 5 prime probably benign
IGL01865:Col4a1 APN 8 11,251,790 (GRCm39) utr 3 prime probably benign
IGL02166:Col4a1 APN 8 11,294,509 (GRCm39) unclassified probably benign
IGL02234:Col4a1 APN 8 11,266,713 (GRCm39) missense probably damaging 1.00
IGL02445:Col4a1 APN 8 11,283,911 (GRCm39) intron probably benign
IGL02719:Col4a1 APN 8 11,281,950 (GRCm39) intron probably benign
IGL02817:Col4a1 APN 8 11,270,259 (GRCm39) missense probably damaging 1.00
IGL02821:Col4a1 APN 8 11,271,375 (GRCm39) missense probably benign 0.04
IGL02870:Col4a1 APN 8 11,271,375 (GRCm39) missense probably benign 0.04
IGL02935:Col4a1 APN 8 11,269,166 (GRCm39) missense probably damaging 1.00
IGL03085:Col4a1 APN 8 11,272,198 (GRCm39) nonsense probably null
Wayne UTSW 8 11,259,650 (GRCm39) missense probably damaging 1.00
IGL03134:Col4a1 UTSW 8 11,290,069 (GRCm39) critical splice acceptor site probably null
R0076:Col4a1 UTSW 8 11,268,713 (GRCm39) missense probably damaging 1.00
R0076:Col4a1 UTSW 8 11,268,713 (GRCm39) missense probably damaging 1.00
R0238:Col4a1 UTSW 8 11,268,780 (GRCm39) splice site probably benign
R0239:Col4a1 UTSW 8 11,268,780 (GRCm39) splice site probably benign
R0268:Col4a1 UTSW 8 11,317,588 (GRCm39) splice site probably benign
R0320:Col4a1 UTSW 8 11,292,782 (GRCm39) splice site probably null
R0402:Col4a1 UTSW 8 11,249,838 (GRCm39) utr 3 prime probably benign
R0483:Col4a1 UTSW 8 11,286,423 (GRCm39) splice site probably benign
R0544:Col4a1 UTSW 8 11,276,487 (GRCm39) intron probably benign
R0630:Col4a1 UTSW 8 11,249,889 (GRCm39) splice site probably benign
R0648:Col4a1 UTSW 8 11,296,892 (GRCm39) missense unknown
R0733:Col4a1 UTSW 8 11,268,934 (GRCm39) missense possibly damaging 0.46
R0839:Col4a1 UTSW 8 11,271,015 (GRCm39) missense probably damaging 0.96
R0900:Col4a1 UTSW 8 11,268,014 (GRCm39) small deletion probably benign
R0941:Col4a1 UTSW 8 11,258,296 (GRCm39) missense unknown
R1456:Col4a1 UTSW 8 11,292,829 (GRCm39) splice site probably benign
R1728:Col4a1 UTSW 8 11,262,712 (GRCm39) missense possibly damaging 0.81
R1832:Col4a1 UTSW 8 11,264,644 (GRCm39) splice site probably benign
R1862:Col4a1 UTSW 8 11,276,439 (GRCm39) intron probably benign
R1955:Col4a1 UTSW 8 11,258,228 (GRCm39) splice site probably null
R2058:Col4a1 UTSW 8 11,260,792 (GRCm39) missense probably damaging 0.96
R2263:Col4a1 UTSW 8 11,362,586 (GRCm39) unclassified probably benign
R2696:Col4a1 UTSW 8 11,285,092 (GRCm39) splice site probably null
R3826:Col4a1 UTSW 8 11,259,650 (GRCm39) missense probably damaging 1.00
R3828:Col4a1 UTSW 8 11,259,650 (GRCm39) missense probably damaging 1.00
R3829:Col4a1 UTSW 8 11,259,650 (GRCm39) missense probably damaging 1.00
R3830:Col4a1 UTSW 8 11,259,650 (GRCm39) missense probably damaging 1.00
R3923:Col4a1 UTSW 8 11,251,665 (GRCm39) utr 3 prime probably benign
R3980:Col4a1 UTSW 8 11,289,155 (GRCm39) intron probably benign
R4120:Col4a1 UTSW 8 11,256,263 (GRCm39) missense unknown
R4152:Col4a1 UTSW 8 11,267,227 (GRCm39) splice site probably null
R4437:Col4a1 UTSW 8 11,256,387 (GRCm39) nonsense probably null
R5237:Col4a1 UTSW 8 11,295,068 (GRCm39) unclassified probably benign
R5362:Col4a1 UTSW 8 11,295,760 (GRCm39) unclassified probably benign
R5488:Col4a1 UTSW 8 11,362,550 (GRCm39) unclassified probably benign
R5489:Col4a1 UTSW 8 11,362,550 (GRCm39) unclassified probably benign
R5864:Col4a1 UTSW 8 11,252,973 (GRCm39) utr 3 prime probably benign
R5929:Col4a1 UTSW 8 11,266,788 (GRCm39) missense probably benign 0.17
R6159:Col4a1 UTSW 8 11,270,007 (GRCm39) missense probably damaging 1.00
R6261:Col4a1 UTSW 8 11,257,409 (GRCm39) splice site probably null
R6404:Col4a1 UTSW 8 11,257,409 (GRCm39) splice site probably null
R6520:Col4a1 UTSW 8 11,269,152 (GRCm39) missense probably damaging 1.00
R6862:Col4a1 UTSW 8 11,252,926 (GRCm39) utr 3 prime probably benign
R6974:Col4a1 UTSW 8 11,362,538 (GRCm39) unclassified probably benign
R7329:Col4a1 UTSW 8 11,276,494 (GRCm39) critical splice acceptor site probably null
R7893:Col4a1 UTSW 8 11,270,243 (GRCm39) missense unknown
R8392:Col4a1 UTSW 8 11,258,333 (GRCm39) critical splice acceptor site probably null
R8809:Col4a1 UTSW 8 11,295,916 (GRCm39) missense unknown
R8957:Col4a1 UTSW 8 11,295,906 (GRCm39) unclassified probably benign
R9013:Col4a1 UTSW 8 11,272,270 (GRCm39) missense probably benign 0.02
R9048:Col4a1 UTSW 8 11,281,944 (GRCm39) splice site probably benign
R9102:Col4a1 UTSW 8 11,253,007 (GRCm39) missense possibly damaging 0.67
R9154:Col4a1 UTSW 8 11,267,446 (GRCm39) missense probably damaging 0.99
R9379:Col4a1 UTSW 8 11,249,838 (GRCm39) missense unknown
Z1088:Col4a1 UTSW 8 11,296,859 (GRCm39) splice site probably benign
Z1177:Col4a1 UTSW 8 11,289,024 (GRCm39) missense unknown
Z1177:Col4a1 UTSW 8 11,285,218 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTGGCTACTCTGGAAAGCACACAC -3'
(R):5'- CTCTGCAAGAAGCAACTGGGTCTAC -3'

Sequencing Primer
(F):5'- TCTTCTAAGACATGGACTACCTTG -3'
(R):5'- TCTACCAGGCCCTGACG -3'
Posted On 2013-06-11