Incidental Mutation 'R0648:Col4a1'
ID 57346
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 038833-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0648 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 11248423-11362826 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11296892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 84 (P84S)
Ref Sequence ENSEMBL: ENSMUSP00000147951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033898] [ENSMUST00000208095] [ENSMUST00000209735]
AlphaFold P02463
Predicted Effect unknown
Transcript: ENSMUST00000033898
AA Change: P84S
SMART Domains Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502
AA Change: P84S

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 unknown
Transcript: ENSMUST00000208095
AA Change: P20S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209000
Predicted Effect unknown
Transcript: ENSMUST00000209735
AA Change: P84S
Meta Mutation Damage Score 0.0816 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (80/80)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,184,632 (GRCm39) V1009A possibly damaging Het
Acta2 T C 19: 34,225,934 (GRCm39) I87V probably benign Het
Arid1a A G 4: 133,412,515 (GRCm39) Y1560H unknown Het
Bcor C T X: 11,925,290 (GRCm39) R102Q probably damaging Het
Camsap2 A T 1: 136,232,057 (GRCm39) D179E probably damaging Het
Ccdc168 A G 1: 44,095,723 (GRCm39) S1792P possibly damaging Het
Ccdc18 T A 5: 108,283,426 (GRCm39) S46T probably damaging Het
Ccdc18 A C 5: 108,322,853 (GRCm39) Q651P probably damaging Het
Cdc73 T C 1: 143,571,200 (GRCm39) T80A probably benign Het
Cdh20 T A 1: 109,993,337 (GRCm39) probably benign Het
Cenpe G A 3: 134,935,843 (GRCm39) G426D probably damaging Het
Cenpt A G 8: 106,571,592 (GRCm39) V487A probably damaging Het
Clec2m A G 6: 129,307,932 (GRCm39) F46L probably benign Het
Dennd2d A G 3: 106,407,871 (GRCm39) I450M probably damaging Het
Dhps C A 8: 85,799,911 (GRCm39) probably null Het
Ebf1 A T 11: 44,882,337 (GRCm39) H431L probably damaging Het
Efcab6 A G 15: 83,817,265 (GRCm39) probably benign Het
Egflam T C 15: 7,237,190 (GRCm39) H990R probably damaging Het
Ercc6l2 A G 13: 63,992,459 (GRCm39) T303A probably benign Het
Fam167b T C 4: 129,472,150 (GRCm39) K7E probably benign Het
Fgd3 T C 13: 49,450,049 (GRCm39) I67V probably benign Het
Fhip1a A C 3: 85,637,921 (GRCm39) V126G probably damaging Het
Fn1 A T 1: 71,636,744 (GRCm39) V2045D possibly damaging Het
Gnl1 A G 17: 36,293,490 (GRCm39) N225S probably damaging Het
Gpx6 A T 13: 21,503,047 (GRCm39) N154Y probably benign Het
H2bc21 A G 3: 96,128,851 (GRCm39) S124G probably benign Het
Haus8 C A 8: 71,709,174 (GRCm39) G79V probably damaging Het
Hdgfl1 A T 13: 26,953,836 (GRCm39) L79Q probably damaging Het
Impdh2 T C 9: 108,440,665 (GRCm39) Y83H probably benign Het
Lama2 T C 10: 26,865,372 (GRCm39) T2929A probably benign Het
Lpin2 T C 17: 71,536,307 (GRCm39) S199P probably benign Het
Moap1 T C 12: 102,708,776 (GRCm39) T258A probably benign Het
Mrps35 C A 6: 146,957,443 (GRCm39) S156* probably null Het
Mrtfa A G 15: 80,901,121 (GRCm39) S457P probably damaging Het
Mtbp C T 15: 55,466,597 (GRCm39) P537S probably benign Het
Ncstn C A 1: 171,895,454 (GRCm39) V565F probably benign Het
Nhsl1 A G 10: 18,407,474 (GRCm39) N1536S possibly damaging Het
Nkain4 T C 2: 180,584,905 (GRCm39) Q103R possibly damaging Het
Nsun2 T A 13: 69,775,706 (GRCm39) N383K probably damaging Het
Or13p4 C T 4: 118,547,269 (GRCm39) V127I probably benign Het
Or6c33 A G 10: 129,853,350 (GRCm39) N40S probably damaging Het
Parp1 C T 1: 180,428,005 (GRCm39) probably benign Het
Pkd1 G A 17: 24,813,911 (GRCm39) R4125H probably damaging Het
Plxnd1 T C 6: 115,970,962 (GRCm39) I269V possibly damaging Het
Polr1f C T 12: 33,487,999 (GRCm39) Q305* probably null Het
Ppp1r36dn A G 12: 76,498,070 (GRCm39) noncoding transcript Het
Qrich1 T A 9: 108,422,076 (GRCm39) N563K probably damaging Het
Rab3il1 TGAAG TGAAGAAG 19: 10,004,752 (GRCm39) probably benign Het
Rell1 G A 5: 64,082,088 (GRCm39) T271M probably benign Het
Rgl1 A G 1: 152,412,016 (GRCm39) probably null Het
Rph3a C T 5: 121,097,333 (GRCm39) R261H possibly damaging Het
Ryr2 A T 13: 11,739,219 (GRCm39) M2161K possibly damaging Het
Scaf11 T C 15: 96,316,339 (GRCm39) N1075S possibly damaging Het
Serpina3j A G 12: 104,280,938 (GRCm39) D37G probably benign Het
Siah2 A G 3: 58,583,635 (GRCm39) V217A probably damaging Het
Sik2 T C 9: 50,810,045 (GRCm39) D506G probably benign Het
Skap2 A C 6: 51,856,765 (GRCm39) V279G probably benign Het
Slc8a3 G T 12: 81,361,220 (GRCm39) T533N probably damaging Het
Slc9a7 A T X: 20,028,659 (GRCm39) probably benign Het
Snai3 G T 8: 123,181,733 (GRCm39) F241L probably damaging Het
Speg T C 1: 75,404,622 (GRCm39) S2805P probably benign Het
Spink5 A T 18: 44,132,864 (GRCm39) probably benign Het
Tctn1 C T 5: 122,389,761 (GRCm39) E254K probably benign Het
Tdrd3 C T 14: 87,709,618 (GRCm39) T100M probably damaging Het
Tex47 T C 5: 7,355,215 (GRCm39) V132A probably benign Het
Thbs3 A G 3: 89,123,972 (GRCm39) probably null Het
Tigit T A 16: 43,482,401 (GRCm39) Y111F probably damaging Het
Tmem245 A G 4: 56,906,270 (GRCm39) I148T probably benign Het
Tmem97 A G 11: 78,441,365 (GRCm39) Y39H probably benign Het
Tnks2 T A 19: 36,839,474 (GRCm39) probably null Het
Trp53bp1 A G 2: 121,066,188 (GRCm39) V846A probably benign Het
Tulp2 T G 7: 45,169,210 (GRCm39) I259S probably damaging Het
Ubxn1 G A 19: 8,851,612 (GRCm39) R215H probably damaging Het
Vmn1r17 A G 6: 57,337,460 (GRCm39) F253L probably damaging Het
Vmn2r10 T C 5: 109,143,782 (GRCm39) M723V probably benign Het
Xndc1 T C 7: 101,728,031 (GRCm39) V14A possibly damaging Het
Xpnpep1 A G 19: 52,986,294 (GRCm39) probably benign Het
Yes1 T A 5: 32,812,862 (GRCm39) M322K possibly damaging Het
Zdhhc14 C A 17: 5,543,877 (GRCm39) N52K probably benign Het
Zfp42 A G 8: 43,749,015 (GRCm39) V162A probably benign 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
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'- TGGCCCAACACTTCATGTCACTG -3'
(R):5'- TGCAAGGTGTCATTGGATTTCCCG -3'

Sequencing Primer
(F):5'- GAGAGCTTGGCTCTAACAATGTC -3'
(R):5'- CGGGATGCAAGGACCTGAG -3'
Posted On 2013-07-11