Incidental Mutation 'R4078:Col27a1'
ID 316671
Institutional Source Beutler Lab
Gene Symbol Col27a1
Ensembl Gene ENSMUSG00000045672
Gene Name collagen, type XXVII, alpha 1
Synonyms 5730512J02Rik
MMRRC Submission 041623-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4078 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 63132246-63253228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 63142669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 119 (R119L)
Ref Sequence ENSEMBL: ENSMUSP00000043816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036300]
AlphaFold Q5QNQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000036300
AA Change: R119L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: R119L

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: ENSMUST00000148751
Meta Mutation Damage Score 0.1418 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (70/73)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik A T 9: 46,215,359 (GRCm39) L367* probably null Het
Agfg1 T A 1: 82,860,008 (GRCm39) S312T possibly damaging Het
Akap8 C T 17: 32,531,272 (GRCm39) R380Q probably damaging Het
Ambp T A 4: 63,068,680 (GRCm39) K112N probably damaging Het
Arl5c A T 11: 97,884,327 (GRCm39) I88N probably damaging Het
Asah1 A G 8: 41,807,119 (GRCm39) S102P probably damaging Het
Atp10b T C 11: 43,044,110 (GRCm39) V112A probably benign Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Cabs1 G A 5: 88,128,161 (GRCm39) E271K probably damaging Het
Car8 T C 4: 8,169,731 (GRCm39) K259R possibly damaging Het
Ccdc18 C T 5: 108,306,394 (GRCm39) Q270* probably null Het
Cdh4 A G 2: 179,530,966 (GRCm39) E616G possibly damaging Het
Cdk11b C T 4: 155,724,204 (GRCm39) probably benign Het
Cfap74 A G 4: 155,540,128 (GRCm39) D975G probably damaging Het
Col7a1 A G 9: 108,790,059 (GRCm39) N918S unknown Het
Colec11 T C 12: 28,645,246 (GRCm39) N142D possibly damaging Het
Cox7a2 G A 9: 79,665,852 (GRCm39) Q10* probably null Het
Cyp2b23 C A 7: 26,372,517 (GRCm39) G366V probably damaging Het
Eif1ad3 A G 12: 87,843,401 (GRCm39) K16R unknown Het
Emsy G A 7: 98,239,932 (GRCm39) P1108S probably damaging Het
Etl4 A T 2: 20,812,772 (GRCm39) R1442S probably damaging Het
Fam151a G A 4: 106,604,954 (GRCm39) G439S probably benign Het
Fat1 C T 8: 45,442,159 (GRCm39) P1154S probably damaging Het
Fat4 G A 3: 39,034,169 (GRCm39) S2607N probably damaging Het
Fzd7 T A 1: 59,522,948 (GRCm39) M277K possibly damaging Het
Fzd9 A G 5: 135,278,490 (GRCm39) V465A probably benign Het
Gm38706 G T 6: 130,460,700 (GRCm39) noncoding transcript Het
Gm9758 T A 5: 14,961,536 (GRCm39) probably null Het
Gpr3 T C 4: 132,938,226 (GRCm39) T149A probably damaging Het
Heatr9 C A 11: 83,403,254 (GRCm39) K428N probably benign Het
Hgs T A 11: 120,373,874 (GRCm39) S723T probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kcnn3 A G 3: 89,568,495 (GRCm39) K591R possibly damaging Het
Khdrbs2 T C 1: 32,558,895 (GRCm39) probably benign Het
Lpp G A 16: 24,500,611 (GRCm39) R141H probably damaging Het
Lrpap1 A G 5: 35,253,381 (GRCm39) I261T possibly damaging Het
Macf1 T A 4: 123,365,884 (GRCm39) Q2959L probably benign Het
Mipep T A 14: 61,083,926 (GRCm39) Y606N probably damaging Het
Mroh5 C A 15: 73,657,889 (GRCm39) C547F possibly damaging Het
Nek3 A T 8: 22,622,153 (GRCm39) W363R probably damaging Het
Nphs1 T A 7: 30,166,945 (GRCm39) Y717* probably null Het
Obscn A G 11: 58,929,189 (GRCm39) V6145A probably benign Het
Optc T C 1: 133,826,087 (GRCm39) H270R probably damaging Het
Or1l4 T A 2: 37,092,024 (GRCm39) I257N possibly damaging Het
Or2l5 T A 16: 19,333,982 (GRCm39) M135L possibly damaging Het
Or5p80 T A 7: 108,230,114 (GRCm39) M305K probably benign Het
Or9r7 G A 10: 129,962,587 (GRCm39) T113I probably damaging Het
Pik3c2g A G 6: 139,612,608 (GRCm39) probably benign Het
Pms1 A T 1: 53,306,948 (GRCm39) probably null Het
Pramel51 T A 12: 88,142,683 (GRCm39) I312F probably benign Het
Prkg1 T C 19: 31,562,978 (GRCm39) Y156C probably damaging Het
Prol1 A G 5: 88,476,075 (GRCm39) N155S unknown Het
Rapgefl1 A G 11: 98,740,803 (GRCm39) T552A probably benign Het
Slc22a28 T A 19: 8,078,777 (GRCm39) H304L probably benign Het
Stox1 C T 10: 62,501,810 (GRCm39) C250Y probably benign Het
Sult2a3 A G 7: 13,855,662 (GRCm39) W65R possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Syne2 C A 12: 76,082,398 (GRCm39) T4857K probably damaging Het
Tcp1 T C 17: 13,136,970 (GRCm39) L64S probably benign Het
Thap11 G T 8: 106,582,548 (GRCm39) E186* probably null Het
Tmem67 A G 4: 12,040,633 (GRCm39) probably null Het
Trappc10 T C 10: 78,046,216 (GRCm39) Y458C probably damaging Het
Ufd1 A G 16: 18,644,528 (GRCm39) Y197C possibly damaging Het
Ung G T 5: 114,268,684 (GRCm39) probably null Het
Usp49 A G 17: 47,985,674 (GRCm39) T245A probably damaging Het
Washc1 A T 17: 66,424,156 (GRCm39) E289D probably benign Het
Zc3h7a A T 16: 10,969,011 (GRCm39) V450E probably benign Het
Zcchc17 T G 4: 130,223,418 (GRCm39) I123L possibly damaging Het
Zfp955a A G 17: 33,460,675 (GRCm39) Y486H probably benign 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
R1952:Col27a1 UTSW 4 63,202,130 (GRCm39) splice site probably null
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
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 PCR Primer
(F):5'- TTGGAGCAGGCTCTTATCATC -3'
(R):5'- ACAGGCTGTCACCATTGTG -3'

Sequencing Primer
(F):5'- GGAGCAGGCTCTTATCATCTTCTC -3'
(R):5'- CACCATTGTGACTGTGCGG -3'
Posted On 2015-05-15