Incidental Mutation 'IGL01295:Col4a1'
ID73069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col4a1
Ensembl Gene ENSMUSG00000031502
Gene Namecollagen, type IV, alpha 1
SynonymsDel(8)Bru44H, Svc, Raw, Del(8)44H, Bru, Col4a-1, alpha1(IV) collagen
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01295
Quality Score
Status
Chromosome8
Chromosomal Location11198423-11312826 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) G to T at 11236075 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033898] [ENSMUST00000209661] [ENSMUST00000209735]
Predicted Effect unknown
Transcript: ENSMUST00000033898
AA Change: T366K
SMART Domains Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502
AA Change: T366K

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: ENSMUST00000208386
Predicted Effect probably benign
Transcript: ENSMUST00000209661
Predicted Effect unknown
Transcript: ENSMUST00000209735
AA Change: T366K
Coding Region Coverage
Validation Efficiency
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,661,936 L691I possibly damaging Het
Ano7 A G 1: 93,380,478 D77G probably benign Het
Apol10b A T 15: 77,585,596 V127E probably damaging Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Atn1 T C 6: 124,749,276 E80G probably damaging Het
Carmil2 T C 8: 105,695,516 M1139T probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Celf5 G T 10: 81,467,080 probably benign Het
Chd6 G A 2: 160,988,370 probably benign Het
Col12a1 A T 9: 79,643,926 V2136E probably damaging Het
Dph1 A G 11: 75,180,949 probably benign Het
Dvl2 G T 11: 70,009,584 V735F possibly damaging Het
Eif3b A G 5: 140,441,740 I709V possibly damaging Het
Elp5 C T 11: 69,968,470 probably benign Het
Exd1 A T 2: 119,530,079 probably benign Het
Fbxl4 C A 4: 22,427,348 R530S probably benign Het
Fmo4 A T 1: 162,799,124 D284E probably damaging Het
Fn3krp A G 11: 121,421,554 Y31C probably damaging Het
Galnt14 G T 17: 73,504,919 Q436K probably benign Het
Gm5114 A T 7: 39,407,817 W793R probably damaging Het
Gm9376 T G 14: 118,267,647 S164A possibly damaging Het
Gtf2ird2 G A 5: 134,192,764 D69N probably damaging Het
Hfm1 A C 5: 106,917,606 M69R possibly damaging Het
Ighv9-1 A C 12: 114,093,999 S94A probably damaging Het
Ikzf2 C T 1: 69,577,987 R67H probably benign Het
Ipcef1 A T 10: 6,900,642 F316L probably damaging Het
Kdsr A G 1: 106,755,457 V62A possibly damaging Het
Kif23 A T 9: 61,932,129 C279S possibly damaging Het
Klf5 C T 14: 99,301,721 T110I probably benign Het
Klhl25 T A 7: 75,865,872 H175Q probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Nfatc4 T C 14: 55,832,505 V710A probably benign Het
Olfr1404 A T 1: 173,215,873 Y74F probably damaging Het
Olfr68 C T 7: 103,778,241 V35I probably benign Het
Optn G A 2: 5,033,156 T409I possibly damaging Het
Pabpc2 T A 18: 39,774,029 Y116N probably damaging Het
Pafah1b1 G T 11: 74,683,647 R238S probably damaging Het
Pdzd9 C T 7: 120,668,395 G66R probably damaging Het
Pih1d1 T C 7: 45,159,964 L285P probably damaging Het
Pirb G A 7: 3,717,406 P323S probably damaging Het
Pkd1l1 A G 11: 8,933,685 F396L possibly damaging Het
Pla2g4d G A 2: 120,281,726 T108M probably damaging Het
Plin3 T C 17: 56,279,814 Y411C probably damaging Het
Ppfibp2 T C 7: 107,747,539 probably benign Het
Prrc2c T C 1: 162,682,492 S995G probably damaging Het
Ptf1a T C 2: 19,446,618 I253T probably damaging Het
Ptprb A G 10: 116,362,648 I1684V probably benign Het
Ptprk G A 10: 28,475,178 V556I probably benign Het
Rffl A T 11: 82,818,457 C47S probably damaging Het
Rnf17 C T 14: 56,463,064 Q569* probably null Het
Shprh A G 10: 11,183,868 E1121G probably damaging Het
Slc1a5 A G 7: 16,795,862 D402G probably damaging Het
Slc24a3 G A 2: 145,616,714 probably null Het
Slc2a13 T A 15: 91,350,132 probably null Het
Slc30a8 A T 15: 52,306,559 N61Y possibly damaging Het
Slitrk6 A T 14: 110,751,436 S280T possibly damaging Het
Smad2 G A 18: 76,302,430 A365T probably benign Het
Tcp10b C T 17: 13,080,160 P367S probably damaging Het
Tdp1 A G 12: 99,891,670 N163D probably benign Het
Thbs1 A G 2: 118,118,327 D488G possibly damaging Het
Trappc12 C T 12: 28,746,762 S257N probably damaging Het
Treml1 T C 17: 48,365,599 probably benign Het
Ugt2b36 A G 5: 87,080,885 V234A probably damaging Het
Vmn2r86 T G 10: 130,453,026 H202P probably damaging Het
Vmn2r87 C A 10: 130,472,009 V787F probably damaging Het
Wbp2nl T A 15: 82,306,418 M129K probably damaging Het
Zdhhc15 T C X: 104,544,913 probably null Het
Other mutations in Col4a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Col4a1 APN 8 11240077 splice site probably benign
IGL00503:Col4a1 APN 8 11240076 splice site probably benign
IGL00938:Col4a1 APN 8 11236456 intron probably benign
IGL01406:Col4a1 APN 8 11218898 missense probably damaging 1.00
IGL01807:Col4a1 APN 8 11247056 utr 5 prime probably benign
IGL01865:Col4a1 APN 8 11201790 utr 3 prime probably benign
IGL02166:Col4a1 APN 8 11244509 unclassified probably benign
IGL02234:Col4a1 APN 8 11216713 missense probably damaging 1.00
IGL02445:Col4a1 APN 8 11233911 intron probably benign
IGL02719:Col4a1 APN 8 11231950 intron probably benign
IGL02817:Col4a1 APN 8 11220259 missense probably damaging 1.00
IGL02821:Col4a1 APN 8 11221375 missense probably benign 0.04
IGL02870:Col4a1 APN 8 11221375 missense probably benign 0.04
IGL02935:Col4a1 APN 8 11219166 missense probably damaging 1.00
IGL03085:Col4a1 APN 8 11222198 nonsense probably null
Wayne UTSW 8 11209650 missense probably damaging 1.00
IGL03134:Col4a1 UTSW 8 11240069 critical splice acceptor site probably null
R0076:Col4a1 UTSW 8 11218713 missense probably damaging 1.00
R0076:Col4a1 UTSW 8 11218713 missense probably damaging 1.00
R0238:Col4a1 UTSW 8 11218780 splice site probably benign
R0239:Col4a1 UTSW 8 11218780 splice site probably benign
R0268:Col4a1 UTSW 8 11267588 splice site probably benign
R0320:Col4a1 UTSW 8 11242782 splice site probably null
R0402:Col4a1 UTSW 8 11199838 utr 3 prime probably benign
R0483:Col4a1 UTSW 8 11236423 splice site probably benign
R0511:Col4a1 UTSW 8 11208333 critical splice acceptor site probably null
R0544:Col4a1 UTSW 8 11226487 intron probably benign
R0630:Col4a1 UTSW 8 11199889 splice site probably benign
R0648:Col4a1 UTSW 8 11246892 missense unknown
R0733:Col4a1 UTSW 8 11218934 missense possibly damaging 0.46
R0839:Col4a1 UTSW 8 11221015 missense probably damaging 0.96
R0900:Col4a1 UTSW 8 11218014 small deletion probably benign
R0941:Col4a1 UTSW 8 11208296 missense unknown
R1456:Col4a1 UTSW 8 11242829 splice site probably benign
R1728:Col4a1 UTSW 8 11212712 missense possibly damaging 0.81
R1832:Col4a1 UTSW 8 11214644 splice site probably benign
R1862:Col4a1 UTSW 8 11226439 intron probably benign
R1955:Col4a1 UTSW 8 11208228 splice site probably null
R2058:Col4a1 UTSW 8 11210792 missense probably damaging 0.96
R2263:Col4a1 UTSW 8 11312586 unclassified probably benign
R2696:Col4a1 UTSW 8 11235092 splice site probably null
R3826:Col4a1 UTSW 8 11209650 missense probably damaging 1.00
R3828:Col4a1 UTSW 8 11209650 missense probably damaging 1.00
R3829:Col4a1 UTSW 8 11209650 missense probably damaging 1.00
R3830:Col4a1 UTSW 8 11209650 missense probably damaging 1.00
R3923:Col4a1 UTSW 8 11201665 utr 3 prime probably benign
R3980:Col4a1 UTSW 8 11239155 intron probably benign
R4120:Col4a1 UTSW 8 11206263 missense unknown
R4152:Col4a1 UTSW 8 11217227 intron probably null
R4437:Col4a1 UTSW 8 11206387 nonsense probably null
R5237:Col4a1 UTSW 8 11245068 unclassified probably benign
R5362:Col4a1 UTSW 8 11245760 unclassified probably benign
R5488:Col4a1 UTSW 8 11312550 unclassified probably benign
R5489:Col4a1 UTSW 8 11312550 unclassified probably benign
R5864:Col4a1 UTSW 8 11202973 utr 3 prime probably benign
R5929:Col4a1 UTSW 8 11216788 missense probably benign 0.17
R6159:Col4a1 UTSW 8 11220007 missense probably damaging 1.00
R6261:Col4a1 UTSW 8 11207409 splice site probably null
R6404:Col4a1 UTSW 8 11207409 splice site probably null
R6520:Col4a1 UTSW 8 11219152 missense probably damaging 1.00
R6862:Col4a1 UTSW 8 11202926 utr 3 prime probably benign
R6974:Col4a1 UTSW 8 11312538 unclassified probably benign
R7329:Col4a1 UTSW 8 11226494 critical splice acceptor site probably null
Z1088:Col4a1 UTSW 8 11246859 splice site probably benign
Z1177:Col4a1 UTSW 8 11235218 missense unknown
Z1177:Col4a1 UTSW 8 11239024 missense unknown
Posted On2013-10-07