Incidental Mutation 'R0544:Col4a1'
ID 44689
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 038736-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0544 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 11248423-11362826 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 11276487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148226 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033898] [ENSMUST00000209661] [ENSMUST00000209735]
AlphaFold P02463
Predicted Effect unknown
Transcript: ENSMUST00000033898
AA Change: I579L
SMART Domains Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502
AA Change: I579L

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: I579L
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (97/99)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,394,763 (GRCm39) F130L probably benign Het
Aatf C T 11: 84,313,831 (GRCm39) R511Q probably benign Het
Acot12 A T 13: 91,932,775 (GRCm39) D516V probably benign Het
Adgrb2 T C 4: 129,911,335 (GRCm39) V1207A probably damaging Het
Akap9 A G 5: 4,119,185 (GRCm39) D3564G probably benign Het
Arl8b C T 6: 108,760,189 (GRCm39) probably benign Het
Atf6b T C 17: 34,867,273 (GRCm39) probably null Het
Atrn G A 2: 130,828,746 (GRCm39) G1097D probably damaging Het
Btbd6 A G 12: 112,940,702 (GRCm39) E61G probably damaging Het
Car15 A G 16: 17,653,680 (GRCm39) probably benign Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Carmil2 C T 8: 106,417,867 (GRCm39) A654V probably damaging Het
Ccdc88b A G 19: 6,834,634 (GRCm39) L124P probably damaging Het
Ccnd1 A G 7: 144,491,023 (GRCm39) probably benign Het
Cenph A G 13: 100,909,249 (GRCm39) S53P probably damaging Het
Chrm3 T A 13: 9,927,615 (GRCm39) I474F probably damaging Het
Cln8 T A 8: 14,946,769 (GRCm39) V261E probably benign Het
Coa6 A G 8: 127,149,499 (GRCm39) D25G probably benign Het
Cpxm1 T C 2: 130,235,055 (GRCm39) H588R probably damaging Het
Cul7 T C 17: 46,974,470 (GRCm39) L1516P possibly damaging Het
Dcdc5 A G 2: 106,181,909 (GRCm39) noncoding transcript Het
Ddx5 T C 11: 106,673,288 (GRCm39) probably benign Het
Dhx16 C A 17: 36,192,551 (GRCm39) P161Q probably benign Het
Dpy19l1 A T 9: 24,396,406 (GRCm39) probably benign Het
Fastkd5 A G 2: 130,457,216 (GRCm39) V458A probably damaging Het
Fhit A G 14: 9,870,172 (GRCm38) V99A probably damaging Het
Fndc3a A T 14: 72,795,062 (GRCm39) probably benign Het
Foxd4 A T 19: 24,877,182 (GRCm39) S339R possibly damaging Het
Gm10842 T A 11: 105,037,880 (GRCm39) D54E unknown Het
Gns T A 10: 121,212,172 (GRCm39) Y94* probably null Het
Gp2 A G 7: 119,053,719 (GRCm39) W81R probably benign Het
Hdac5 T G 11: 102,086,922 (GRCm39) Q46P probably damaging Het
Homer2 A C 7: 81,299,426 (GRCm39) V13G probably damaging Het
Irs3 A G 5: 137,642,101 (GRCm39) S446P probably benign Het
Ism2 G T 12: 87,332,113 (GRCm39) D141E probably damaging Het
Jak1 T A 4: 101,048,822 (GRCm39) M19L probably benign Het
Kcnd3 C A 3: 105,566,075 (GRCm39) R419S probably damaging Het
Lamb1 T C 12: 31,332,694 (GRCm39) F272S probably damaging Het
Ldlrad2 T G 4: 137,299,579 (GRCm39) T82P possibly damaging Het
Lrp2 T C 2: 69,322,275 (GRCm39) K1885E probably benign Het
Mbd5 T C 2: 49,147,221 (GRCm39) V477A possibly damaging Het
Mrps33 A T 6: 39,782,488 (GRCm39) M11K possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myom2 T A 8: 15,119,796 (GRCm39) V184E probably damaging Het
Ncor1 C A 11: 62,224,602 (GRCm39) G1210V probably damaging Het
Ncor1 C T 11: 62,224,603 (GRCm39) G1210R probably damaging Het
Nlrp4a A G 7: 26,156,555 (GRCm39) D760G probably benign Het
Noc4l A G 5: 110,798,989 (GRCm39) V231A possibly damaging Het
Or2at1 T C 7: 99,416,867 (GRCm39) I166T probably benign Het
Or4c112 T C 2: 88,854,170 (GRCm39) Y59C probably damaging Het
Or4f14 A T 2: 111,742,905 (GRCm39) Y123* probably null Het
Or4n4b A T 14: 50,536,139 (GRCm39) V209E probably benign Het
Or52ab7 T A 7: 102,977,858 (GRCm39) I55N probably damaging Het
Or5b98 A G 19: 12,931,066 (GRCm39) T38A possibly damaging Het
Or5h25 T A 16: 58,930,588 (GRCm39) K128N probably benign Het
Or8k23 T C 2: 86,186,007 (GRCm39) T240A probably damaging Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Patj T A 4: 98,457,347 (GRCm39) M1283K probably damaging Het
Pkd1 C T 17: 24,804,657 (GRCm39) T790I probably damaging Het
Plod3 C A 5: 137,020,465 (GRCm39) T526K probably benign Het
Plxnb2 C A 15: 89,042,816 (GRCm39) probably benign Het
Polr1g G T 7: 19,093,066 (GRCm39) P38Q probably damaging Het
Pramel1 T A 4: 143,124,175 (GRCm39) D283E possibly damaging Het
Prpf40a T C 2: 53,031,663 (GRCm39) probably benign Het
Psg23 A T 7: 18,348,607 (GRCm39) Y67N probably damaging Het
Rftn1 T A 17: 50,301,289 (GRCm39) Q242L possibly damaging Het
Rp1l1 A T 14: 64,269,515 (GRCm39) E1700D probably benign Het
Scube3 T C 17: 28,383,127 (GRCm39) F435S probably damaging Het
Sdk2 T C 11: 113,671,836 (GRCm39) Y2104C probably damaging Het
Septin11 A G 5: 93,313,227 (GRCm39) E358G possibly damaging Het
Sh3bp1 T C 15: 78,789,975 (GRCm39) L246P probably damaging Het
Sis T C 3: 72,858,975 (GRCm39) Y352C probably damaging Het
Skint1 T C 4: 111,878,562 (GRCm39) S165P probably damaging Het
Skint10 C T 4: 112,586,008 (GRCm39) probably benign Het
Slc1a2 A T 2: 102,586,417 (GRCm39) R340S probably damaging Het
Slc26a3 C A 12: 31,497,739 (GRCm39) Q48K probably benign Het
Slc5a2 A T 7: 127,869,171 (GRCm39) Y317F probably damaging Het
Sorbs3 T A 14: 70,431,375 (GRCm39) T262S probably benign Het
Tas2r118 G T 6: 23,969,400 (GRCm39) S220R probably damaging Het
Terf2ip C A 8: 112,741,974 (GRCm39) Q223K possibly damaging Het
Tespa1 A G 10: 130,196,680 (GRCm39) Q206R probably damaging Het
Tex10 T C 4: 48,462,766 (GRCm39) probably null Het
Tle1 T A 4: 72,043,227 (GRCm39) K547N probably damaging Het
Tmem131l T A 3: 83,805,853 (GRCm39) Q1530L probably damaging Het
Tomm20l A G 12: 71,169,851 (GRCm39) E145G possibly damaging Het
Tra2a C T 6: 49,227,885 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim37 T A 11: 87,036,328 (GRCm39) Y121* probably null Het
Tube1 C T 10: 39,016,941 (GRCm39) probably null Het
Usp6nl T A 2: 6,425,820 (GRCm39) V187D probably damaging Het
Vmn1r13 T C 6: 57,187,248 (GRCm39) F136L probably benign Het
Vmn1r201 A T 13: 22,659,316 (GRCm39) I177F probably benign Het
Vmn1r203 A T 13: 22,708,443 (GRCm39) T75S possibly damaging Het
Vmn1r225 C T 17: 20,722,718 (GRCm39) S53L probably benign Het
Xab2 A T 8: 3,660,994 (GRCm39) W707R probably damaging Het
Zfp808 T C 13: 62,317,248 (GRCm39) probably benign Het
Zng1 A G 19: 24,926,575 (GRCm39) Y159H 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
R0511:Col4a1 UTSW 8 11,258,333 (GRCm39) critical splice acceptor site probably null
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'- ACTTAGCCGATCTGTGGTCTCTGTG -3'
(R):5'- CTGTGACAACTGCTTGGGAGAAGG -3'

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