Incidental Mutation 'R1952:Col27a1'
ID 266019
Institutional Source Beutler Lab
Gene Symbol Col27a1
Ensembl Gene ENSMUSG00000045672
Gene Name collagen, type XXVII, alpha 1
Synonyms 5730512J02Rik
MMRRC Submission 039966-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1952 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 63132246-63253228 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 63202130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036300] [ENSMUST00000183913] [ENSMUST00000184067]
AlphaFold Q5QNQ9
Predicted Effect probably null
Transcript: ENSMUST00000036300
SMART Domains Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
TSPN 43 223 1.1e-5 SMART
low complexity region 325 343 N/A INTRINSIC
low complexity region 356 372 N/A INTRINSIC
low complexity region 428 443 N/A INTRINSIC
low complexity region 455 467 N/A INTRINSIC
low complexity region 584 597 N/A INTRINSIC
Pfam:Collagen 609 670 2.1e-10 PFAM
Pfam:Collagen 666 731 3.7e-10 PFAM
low complexity region 790 808 N/A INTRINSIC
low complexity region 817 838 N/A INTRINSIC
low complexity region 858 880 N/A INTRINSIC
low complexity region 886 910 N/A INTRINSIC
low complexity region 912 946 N/A INTRINSIC
Pfam:Collagen 1012 1080 2.8e-8 PFAM
Pfam:Collagen 1033 1103 3e-9 PFAM
Pfam:Collagen 1063 1130 3.4e-9 PFAM
low complexity region 1150 1168 N/A INTRINSIC
Pfam:Collagen 1207 1281 5.5e-9 PFAM
Pfam:Collagen 1261 1324 8.4e-10 PFAM
Pfam:Collagen 1323 1384 3.8e-12 PFAM
low complexity region 1438 1466 N/A INTRINSIC
internal_repeat_4 1467 1502 1.5e-7 PROSPERO
internal_repeat_2 1468 1529 1.96e-8 PROSPERO
Pfam:Collagen 1544 1606 2.4e-9 PFAM
COLFI 1644 1845 1.28e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149856
Predicted Effect probably benign
Transcript: ENSMUST00000183913
SMART Domains Protein: ENSMUSP00000139182
Gene: ENSMUSG00000045672

DomainStartEndE-ValueType
Pfam:Collagen 1 60 2.7e-12 PFAM
Pfam:Collagen 34 114 6.6e-8 PFAM
Pfam:Collagen 87 163 3.6e-9 PFAM
low complexity region 175 202 N/A INTRINSIC
low complexity region 214 232 N/A INTRINSIC
Pfam:Collagen 271 338 9.1e-11 PFAM
Pfam:Collagen 328 388 5.4e-11 PFAM
Pfam:Collagen 387 442 4.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184067
SMART Domains Protein: ENSMUSP00000139173
Gene: ENSMUSG00000045672

DomainStartEndE-ValueType
Pfam:Collagen 23 87 2.1e-8 PFAM
Pfam:Collagen 57 145 8.3e-8 PFAM
Pfam:Collagen 115 200 9.9e-8 PFAM
low complexity region 202 223 N/A INTRINSIC
low complexity region 243 265 N/A INTRINSIC
low complexity region 271 295 N/A INTRINSIC
low complexity region 297 331 N/A INTRINSIC
internal_repeat_1 337 442 5.17e-20 PROSPERO
Pfam:Collagen 448 515 1.5e-9 PFAM
Pfam:Collagen 478 543 2e-10 PFAM
Pfam:Collagen 502 566 2.5e-9 PFAM
Pfam:Collagen 532 617 4.4e-7 PFAM
Pfam:Collagen 594 660 8.2e-11 PFAM
Pfam:Collagen 649 709 1.4e-10 PFAM
Pfam:Collagen 708 769 2e-12 PFAM
Pfam:Collagen 752 829 5e-8 PFAM
Pfam:Collagen 878 939 2.2e-9 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the alpha-1 subunit of type XXVII collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein forms a homotrimeric triple helical procollagen that undergoes proteolytic processing during fibril formation. Transgenic mice lacking a portion of the collagenous domain in the encoded protein exhibit skeletal abnormalities, chondrodysplasia and die at birth because of a lung defect. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for an in frame deletion display neonatal lethality, respiratory failure, and severe chondrodysplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik A G 14: 32,110,293 (GRCm39) V6A possibly damaging Het
Accsl G T 2: 93,689,778 (GRCm39) H376Q probably damaging Het
Adgrg1 T C 8: 95,735,119 (GRCm39) probably null Het
Alyref C G 11: 120,486,758 (GRCm39) V168L probably damaging Het
Ankrd12 T C 17: 66,338,566 (GRCm39) D128G probably damaging Het
Bcl2l14 A G 6: 134,409,329 (GRCm39) Y301C probably damaging Het
Camsap3 A G 8: 3,654,789 (GRCm39) T804A probably damaging Het
Capn11 A T 17: 45,953,885 (GRCm39) W154R probably damaging Het
Cd44 T A 2: 102,683,432 (GRCm39) T201S probably damaging Het
Cers4 G A 8: 4,573,461 (GRCm39) W319* probably null Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Cyp2c68 T C 19: 39,700,972 (GRCm39) Y282C probably benign Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dusp7 T A 9: 106,248,028 (GRCm39) C219S probably benign Het
Epha7 A G 4: 28,950,474 (GRCm39) N759S probably damaging Het
Fat1 T C 8: 45,486,963 (GRCm39) V3413A probably benign Het
Gls2 A G 10: 128,045,231 (GRCm39) H576R probably benign Het
Gm4884 G A 7: 40,693,671 (GRCm39) V547M probably benign Het
Hap1 A G 11: 100,243,105 (GRCm39) V174A probably damaging Het
Il12rb2 A G 6: 67,269,300 (GRCm39) S838P probably damaging Het
Ints8 T C 4: 11,221,150 (GRCm39) I742V probably benign Het
Katnal2 G T 18: 77,067,707 (GRCm39) S411R probably benign Het
Lrp1 A C 10: 127,403,300 (GRCm39) V2091G probably damaging Het
Mettl21c A T 1: 44,056,368 (GRCm39) D20E probably damaging Het
Mib1 A T 18: 10,812,077 (GRCm39) E991D possibly damaging Het
Mip T C 10: 128,061,772 (GRCm39) S8P possibly damaging Het
Mllt6 T C 11: 97,568,048 (GRCm39) S826P probably damaging Het
Mlst8 AT ATT 17: 24,696,987 (GRCm39) probably null Het
Myrfl C T 10: 116,658,716 (GRCm39) V414I probably benign Het
Nbeal1 T C 1: 60,273,999 (GRCm39) V409A probably damaging Het
Nin T A 12: 70,077,700 (GRCm39) Q1035L probably damaging Het
Nlgn1 T A 3: 25,490,464 (GRCm39) D421V probably damaging Het
Nlrp10 A G 7: 108,523,770 (GRCm39) V570A probably benign Het
Olfm3 A T 3: 114,895,589 (GRCm39) E157V probably null Het
Or8g24 T A 9: 38,989,580 (GRCm39) I154F probably benign Het
Or8g37 T C 9: 39,731,363 (GRCm39) S143P probably benign Het
Otud7a A G 7: 63,300,624 (GRCm39) D21G probably damaging Het
Pax2 A G 19: 44,777,271 (GRCm39) T155A probably benign Het
Pcf11 A T 7: 92,310,546 (GRCm39) S481T probably damaging Het
Prkab2 T C 3: 97,573,943 (GRCm39) V194A probably benign Het
Prl3a1 G A 13: 27,454,136 (GRCm39) G38E possibly damaging Het
Psmb8 T C 17: 34,419,884 (GRCm39) V246A probably damaging Het
Ptpn12 A T 5: 21,203,308 (GRCm39) V490E probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Qars1 G A 9: 108,390,380 (GRCm39) R427H probably benign Het
R3hdml T C 2: 163,340,216 (GRCm39) F128L probably benign Het
Rapgef4 A G 2: 72,038,471 (GRCm39) M541V probably benign Het
Rhbdf1 G A 11: 32,164,277 (GRCm39) R234* probably null Het
Rufy1 A T 11: 50,297,233 (GRCm39) D406E probably benign Het
Satb1 A T 17: 52,047,173 (GRCm39) L683Q probably damaging Het
Satb2 T C 1: 56,938,229 (GRCm39) T132A probably damaging Het
Sbspon A G 1: 15,930,519 (GRCm39) S156P probably damaging Het
Shb A T 4: 45,458,347 (GRCm39) probably null Het
She A G 3: 89,756,792 (GRCm39) K282R possibly damaging Het
Slc25a13 A G 6: 6,152,482 (GRCm39) L85P probably damaging Het
Slc7a13 A T 4: 19,841,578 (GRCm39) H475L probably benign Het
Sorl1 C T 9: 41,957,920 (GRCm39) V575I probably benign Het
Spag9 T A 11: 93,988,184 (GRCm39) C833S possibly damaging Het
Speer2 A C 16: 69,654,052 (GRCm39) N232K probably damaging Het
Syncrip A T 9: 88,358,927 (GRCm39) M194K probably damaging Het
Sytl3 A C 17: 6,995,732 (GRCm39) T171P probably damaging Het
Taar7f T A 10: 23,925,747 (GRCm39) Y114N probably damaging Het
Tamalin T C 15: 101,122,381 (GRCm39) Y67H probably benign Het
Tap1 C G 17: 34,412,481 (GRCm39) P506R probably damaging Het
Tle6 T C 10: 81,431,319 (GRCm39) D212G possibly damaging Het
Trim80 G T 11: 115,332,155 (GRCm39) E116* probably null Het
Ttll4 A G 1: 74,726,718 (GRCm39) R745G probably damaging Het
Vdac2 A T 14: 21,887,947 (GRCm39) I85F possibly damaging Het
Vmn1r188 A G 13: 22,272,309 (GRCm39) R88G probably damaging Het
Washc2 T C 6: 116,232,052 (GRCm39) S821P possibly damaging Het
Wdhd1 T C 14: 47,507,647 (GRCm39) Y213C probably damaging Het
Wdr55 C A 18: 36,893,437 (GRCm39) P33Q probably damaging Het
Yrdc C T 4: 124,745,739 (GRCm39) A32V probably benign Het
Zfp608 T A 18: 55,030,851 (GRCm39) K1030* probably null Het
Zfp618 T A 4: 63,050,555 (GRCm39) probably null Het
Other mutations in Col27a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Col27a1 APN 4 63,218,978 (GRCm39) splice site probably benign
IGL01461:Col27a1 APN 4 63,142,480 (GRCm39) missense probably damaging 1.00
IGL01534:Col27a1 APN 4 63,144,019 (GRCm39) missense probably benign 0.12
IGL01738:Col27a1 APN 4 63,182,016 (GRCm39) splice site probably benign
IGL01810:Col27a1 APN 4 63,143,868 (GRCm39) missense probably benign 0.21
IGL02127:Col27a1 APN 4 63,143,379 (GRCm39) missense possibly damaging 0.60
IGL02290:Col27a1 APN 4 63,144,163 (GRCm39) missense probably damaging 1.00
IGL02374:Col27a1 APN 4 63,211,486 (GRCm39) missense possibly damaging 0.86
IGL02548:Col27a1 APN 4 63,236,492 (GRCm39) splice site probably benign
IGL02792:Col27a1 APN 4 63,233,820 (GRCm39) missense unknown
IGL02931:Col27a1 APN 4 63,249,663 (GRCm39) utr 3 prime probably benign
IGL03107:Col27a1 APN 4 63,242,869 (GRCm39) splice site probably benign
IGL03121:Col27a1 APN 4 63,143,446 (GRCm39) missense probably benign 0.26
IGL03334:Col27a1 APN 4 63,232,959 (GRCm39) missense probably damaging 1.00
R0005:Col27a1 UTSW 4 63,143,637 (GRCm39) missense probably benign 0.04
R0025:Col27a1 UTSW 4 63,194,214 (GRCm39) missense probably damaging 1.00
R0141:Col27a1 UTSW 4 63,183,870 (GRCm39) critical splice acceptor site probably null
R0196:Col27a1 UTSW 4 63,142,503 (GRCm39) missense probably benign 0.02
R0359:Col27a1 UTSW 4 63,232,964 (GRCm39) critical splice donor site probably null
R0375:Col27a1 UTSW 4 63,143,898 (GRCm39) missense probably benign 0.23
R0432:Col27a1 UTSW 4 63,143,848 (GRCm39) missense possibly damaging 0.87
R0499:Col27a1 UTSW 4 63,218,978 (GRCm39) splice site probably benign
R0786:Col27a1 UTSW 4 63,209,815 (GRCm39) critical splice donor site probably null
R0891:Col27a1 UTSW 4 63,223,420 (GRCm39) critical splice acceptor site probably null
R1239:Col27a1 UTSW 4 63,237,152 (GRCm39) splice site probably benign
R1297:Col27a1 UTSW 4 63,183,868 (GRCm39) splice site probably benign
R1299:Col27a1 UTSW 4 63,183,868 (GRCm39) splice site probably benign
R1322:Col27a1 UTSW 4 63,246,803 (GRCm39) utr 3 prime probably benign
R1342:Col27a1 UTSW 4 63,175,351 (GRCm39) critical splice donor site probably null
R1446:Col27a1 UTSW 4 63,143,040 (GRCm39) missense probably damaging 1.00
R1629:Col27a1 UTSW 4 63,248,100 (GRCm39) utr 3 prime probably benign
R1644:Col27a1 UTSW 4 63,246,868 (GRCm39) utr 3 prime probably benign
R1774:Col27a1 UTSW 4 63,143,950 (GRCm39) missense probably damaging 1.00
R1807:Col27a1 UTSW 4 63,249,586 (GRCm39) utr 3 prime probably benign
R1957:Col27a1 UTSW 4 63,196,031 (GRCm39) missense probably benign 0.03
R1970:Col27a1 UTSW 4 63,191,354 (GRCm39) splice site probably benign
R2164:Col27a1 UTSW 4 63,143,661 (GRCm39) missense probably benign 0.21
R3774:Col27a1 UTSW 4 63,232,963 (GRCm39) missense probably benign 0.00
R4078:Col27a1 UTSW 4 63,142,669 (GRCm39) missense probably damaging 1.00
R4353:Col27a1 UTSW 4 63,143,868 (GRCm39) missense probably benign 0.21
R4611:Col27a1 UTSW 4 63,211,743 (GRCm39) missense probably damaging 1.00
R4708:Col27a1 UTSW 4 63,202,150 (GRCm39) missense probably benign 0.01
R4884:Col27a1 UTSW 4 63,194,197 (GRCm39) missense possibly damaging 0.77
R5149:Col27a1 UTSW 4 63,249,664 (GRCm39) utr 3 prime probably benign
R5411:Col27a1 UTSW 4 63,142,902 (GRCm39) missense probably damaging 1.00
R5451:Col27a1 UTSW 4 63,143,476 (GRCm39) missense probably damaging 0.98
R5615:Col27a1 UTSW 4 63,199,351 (GRCm39) missense probably damaging 0.96
R5657:Col27a1 UTSW 4 63,143,547 (GRCm39) missense probably damaging 0.97
R5838:Col27a1 UTSW 4 63,143,765 (GRCm39) missense probably damaging 1.00
R6230:Col27a1 UTSW 4 63,142,519 (GRCm39) missense probably damaging 1.00
R6326:Col27a1 UTSW 4 63,242,678 (GRCm39) utr 3 prime probably benign
R6457:Col27a1 UTSW 4 63,237,701 (GRCm39) utr 3 prime probably benign
R6624:Col27a1 UTSW 4 63,143,248 (GRCm39) missense probably benign 0.00
R6792:Col27a1 UTSW 4 63,235,740 (GRCm39) missense unknown
R6848:Col27a1 UTSW 4 63,220,608 (GRCm39) missense probably benign
R6962:Col27a1 UTSW 4 63,237,738 (GRCm39) utr 3 prime probably benign
R7053:Col27a1 UTSW 4 63,251,404 (GRCm39) utr 3 prime probably benign
R7206:Col27a1 UTSW 4 63,153,583 (GRCm39) missense probably benign 0.29
R7586:Col27a1 UTSW 4 63,143,278 (GRCm39) missense probably damaging 1.00
R7698:Col27a1 UTSW 4 63,143,955 (GRCm39) missense possibly damaging 0.78
R7714:Col27a1 UTSW 4 63,242,723 (GRCm39) critical splice donor site probably null
R7916:Col27a1 UTSW 4 63,142,789 (GRCm39) missense probably damaging 1.00
R7943:Col27a1 UTSW 4 63,236,520 (GRCm39) missense unknown
R7988:Col27a1 UTSW 4 63,249,559 (GRCm39) missense unknown
R8136:Col27a1 UTSW 4 63,202,190 (GRCm39) missense probably benign 0.06
R8243:Col27a1 UTSW 4 63,144,120 (GRCm39) missense probably damaging 1.00
R8245:Col27a1 UTSW 4 63,144,040 (GRCm39) missense probably damaging 0.97
R8350:Col27a1 UTSW 4 63,248,134 (GRCm39) missense unknown
R8437:Col27a1 UTSW 4 63,237,701 (GRCm39) utr 3 prime probably benign
R8450:Col27a1 UTSW 4 63,248,134 (GRCm39) missense unknown
R8542:Col27a1 UTSW 4 63,239,662 (GRCm39) splice site probably null
R8745:Col27a1 UTSW 4 63,144,153 (GRCm39) missense probably benign 0.02
R8821:Col27a1 UTSW 4 63,143,148 (GRCm39) missense probably benign 0.04
R8951:Col27a1 UTSW 4 63,191,311 (GRCm39) missense possibly damaging 0.92
R8970:Col27a1 UTSW 4 63,134,105 (GRCm39) missense unknown
R9115:Col27a1 UTSW 4 63,231,974 (GRCm39) missense unknown
R9185:Col27a1 UTSW 4 63,246,887 (GRCm39) missense unknown
R9291:Col27a1 UTSW 4 63,142,539 (GRCm39) missense probably damaging 0.99
R9404:Col27a1 UTSW 4 63,194,178 (GRCm39) missense possibly damaging 0.93
Z1176:Col27a1 UTSW 4 63,144,025 (GRCm39) missense probably damaging 0.99
Z1177:Col27a1 UTSW 4 63,199,526 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-05