Incidental Mutation 'R7329:Col4a1'
ID 569120
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 045422-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7329 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 11248423-11362826 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to T at 11276494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033898] [ENSMUST00000033898] [ENSMUST00000033898] [ENSMUST00000209661] [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 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 benign
Transcript: ENSMUST00000209661
Predicted Effect probably benign
Transcript: ENSMUST00000209735
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (78/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actb T C 5: 142,890,146 (GRCm39) N252S probably benign Het
Adgrb1 C A 15: 74,411,094 (GRCm39) T330K probably damaging Het
Ahnak A G 19: 8,979,156 (GRCm39) T147A probably damaging Het
Ankfy1 T C 11: 72,603,034 (GRCm39) V21A probably damaging Het
Arrdc4 T A 7: 68,390,775 (GRCm39) N322Y probably damaging Het
Bfsp2 C A 9: 103,327,121 (GRCm39) E205D probably benign Het
C2cd4b T A 9: 67,667,419 (GRCm39) S138R possibly damaging Het
Camkk1 C G 11: 72,917,873 (GRCm39) N147K probably damaging Het
Ckap2l T A 2: 129,127,284 (GRCm39) Q298L possibly damaging Het
Clstn2 G T 9: 97,343,422 (GRCm39) A675D probably benign Het
Cntnap2 G A 6: 47,248,205 (GRCm39) V1204M possibly damaging Het
Ctrc T C 4: 141,571,022 (GRCm39) T73A probably benign Het
Cubn A G 2: 13,473,582 (GRCm39) F454L probably damaging Het
Cuedc1 A T 11: 88,060,692 (GRCm39) S12C unknown Het
Cyb561a3 G T 19: 10,565,268 (GRCm39) G211C probably damaging Het
D5Ertd579e A T 5: 36,773,739 (GRCm39) S219T probably benign Het
Dennd4c T A 4: 86,759,318 (GRCm39) Y1783N probably damaging Het
Dennd4c C T 4: 86,698,111 (GRCm39) P200S possibly damaging Het
Dnah6 G A 6: 73,121,705 (GRCm39) Q1426* probably null Het
Dync2h1 T G 9: 7,011,247 (GRCm39) T3649P probably benign Het
E2f8 T C 7: 48,521,858 (GRCm39) S415G probably damaging Het
Fbxo22 A G 9: 55,122,261 (GRCm39) I147V probably benign Het
Gclc A G 9: 77,683,473 (GRCm39) Y110C probably damaging Het
Gstm5 A G 3: 107,803,647 (GRCm39) T27A possibly damaging Het
Heatr4 A G 12: 84,024,856 (GRCm39) S322P probably benign Het
Htt T A 5: 34,987,099 (GRCm39) I1106N probably benign Het
Hunk T C 16: 90,183,570 (GRCm39) V76A probably benign Het
Igkv12-98 C T 6: 68,548,087 (GRCm39) T72I possibly damaging Het
Igkv9-123 A T 6: 67,931,629 (GRCm39) W16R possibly damaging Het
Ipo7 T C 7: 109,648,224 (GRCm39) L674S possibly damaging Het
Kcnh6 T C 11: 105,908,203 (GRCm39) F273S probably benign Het
Lamb3 C A 1: 193,002,848 (GRCm39) Q98K possibly damaging Het
Lingo4 A T 3: 94,310,162 (GRCm39) T367S probably benign Het
Lypd6b A T 2: 49,832,512 (GRCm39) I26F probably benign Het
Maneal T C 4: 124,750,512 (GRCm39) T415A probably benign Het
Mapk1ip1l A G 14: 47,547,920 (GRCm39) T23A unknown Het
Mrps17 T A 5: 129,793,705 (GRCm39) probably benign Het
Mup13 T G 4: 61,183,688 (GRCm39) D45A probably damaging Het
Mycbpap T A 11: 94,400,073 (GRCm39) D408V probably damaging Het
Myh10 A G 11: 68,701,017 (GRCm39) H1742R probably benign Het
Mylk4 A G 13: 32,900,766 (GRCm39) Y255H probably damaging Het
Nbeal1 A G 1: 60,256,355 (GRCm39) Q200R probably benign Het
Nkain2 TTTACTCGTT TTT 10: 32,765,892 (GRCm39) probably null Het
Olfm4 T C 14: 80,249,369 (GRCm39) V162A possibly damaging Het
Or1j15 A G 2: 36,458,708 (GRCm39) T33A probably benign Het
Or51a8 T C 7: 102,550,039 (GRCm39) L155P probably damaging Het
Or5w8 T C 2: 87,687,585 (GRCm39) V22A probably benign Het
Or8c11 C A 9: 38,289,456 (GRCm39) T87K probably benign Het
Ovol3 T A 7: 29,934,677 (GRCm39) R43S probably benign Het
Pcbp1 A G 6: 86,502,098 (GRCm39) V267A probably benign Het
Phf20 T A 2: 156,146,552 (GRCm39) V903E probably damaging Het
Pi4k2b T G 5: 52,914,211 (GRCm39) S316A probably benign Het
Pira1 G A 7: 3,742,875 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,617,743 (GRCm39) H947Q probably damaging Het
Ppip5k2 A C 1: 97,678,478 (GRCm39) probably null Het
Prkca T A 11: 107,905,103 (GRCm39) T212S possibly damaging Het
Psg16 A T 7: 16,824,611 (GRCm39) I41F possibly damaging Het
Rae1 T A 2: 172,851,238 (GRCm39) F204I probably benign Het
Rasef T A 4: 73,662,374 (GRCm39) N192I probably damaging Het
Rfc1 T A 5: 65,420,478 (GRCm39) R1122S unknown Het
Rfx2 A T 17: 57,110,681 (GRCm39) S102T probably benign Het
Sez6l A G 5: 112,588,773 (GRCm39) Y647H probably damaging Het
Siglecf A G 7: 43,001,395 (GRCm39) Y121C probably damaging Het
Slc27a5 T C 7: 12,725,089 (GRCm39) T453A possibly damaging Het
Slc44a2 G A 9: 21,254,048 (GRCm39) R171Q probably damaging Het
Slc4a9 A C 18: 36,673,874 (GRCm39) E889A possibly damaging Het
Snx31 C A 15: 36,555,621 (GRCm39) R13L probably benign Het
Spag6l A T 16: 16,584,883 (GRCm39) Y422N probably benign Het
Spmip5 T C 19: 58,777,654 (GRCm39) E52G probably damaging Het
Sulf2 T C 2: 165,959,008 (GRCm39) T67A probably damaging Het
Syne2 G A 12: 76,013,758 (GRCm39) R2983Q probably benign Het
Tmtc3 A G 10: 100,283,281 (GRCm39) I758T probably benign Het
Top2a T A 11: 98,895,072 (GRCm39) I843L possibly damaging Het
Tph1 T C 7: 46,306,285 (GRCm39) probably null Het
Trdmt1 A G 2: 13,520,933 (GRCm39) L323P probably damaging Het
Ush2a A T 1: 188,285,395 (GRCm39) E1977V probably damaging Het
Utp4 A G 8: 107,640,095 (GRCm39) E468G probably benign Het
Uts2r A G 11: 121,051,558 (GRCm39) T141A possibly damaging Het
Vmn1r230 A G 17: 21,066,952 (GRCm39) Y47C probably 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
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
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'- ACCTTGAAGTTGCCCGTCAG -3'
(R):5'- CTAACGGTGCACCCATCATTG -3'

Sequencing Primer
(F):5'- CTGAAGTCTCACCTGGAAGACCTG -3'
(R):5'- GTGCACCCATCATTGTTTGAAG -3'
Posted On 2019-09-13