Incidental Mutation 'R7206:Col27a1'
ID 560604
Institutional Source Beutler Lab
Gene Symbol Col27a1
Ensembl Gene ENSMUSG00000045672
Gene Name collagen, type XXVII, alpha 1
Synonyms 5730512J02Rik
MMRRC Submission 045284-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7206 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 63132246-63253228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63153583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 645 (Y645F)
Ref Sequence ENSEMBL: ENSMUSP00000043816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036300] [ENSMUST00000184067]
AlphaFold Q5QNQ9
Predicted Effect probably benign
Transcript: ENSMUST00000036300
AA Change: Y645F

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000043816
Gene: ENSMUSG00000045672
AA Change: Y645F

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 unknown
Transcript: ENSMUST00000184067
AA Change: Y30F
SMART Domains Protein: ENSMUSP00000139173
Gene: ENSMUSG00000045672
AA Change: Y30F

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
Meta Mutation Damage Score 0.0622 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (87/88)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 G A 3: 59,932,662 (GRCm39) M392I probably benign Het
Aadacl4fm2 T A 4: 144,285,211 (GRCm39) D142V probably damaging Het
Acr T C 15: 89,458,374 (GRCm39) S352P probably benign Het
Adam6a T C 12: 113,509,654 (GRCm39) C676R probably damaging Het
Adgra3 T C 5: 50,164,238 (GRCm39) D247G probably damaging Het
Agxt2 A T 15: 10,377,542 (GRCm39) E147D probably damaging Het
Atp2a1 T C 7: 126,047,144 (GRCm39) T805A probably benign Het
Atp8b4 T C 2: 126,300,212 (GRCm39) S106G probably damaging Het
Ccdc170 T A 10: 4,464,120 (GRCm39) M87K possibly damaging Het
Ccnl2 T G 4: 155,905,431 (GRCm39) V287G possibly damaging Het
Ccr6 A T 17: 8,475,781 (GRCm39) M329L probably benign Het
Cflar G T 1: 58,780,150 (GRCm39) M248I Het
Cib4 A T 5: 30,703,110 (GRCm39) L5* probably null Het
Cxcr2 A G 1: 74,198,213 (GRCm39) T236A possibly damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnah7a A T 1: 53,737,792 (GRCm39) L47* probably null Het
Dnajb6 A C 5: 29,986,335 (GRCm39) K301T possibly damaging Het
Dpf2 T A 19: 5,954,571 (GRCm39) I157F possibly damaging Het
Drd4 G A 7: 140,872,032 (GRCm39) G28R probably damaging Het
Dus3l A T 17: 57,074,807 (GRCm39) I310F probably damaging Het
Dusp29 A G 14: 21,727,102 (GRCm39) V182A probably damaging Het
Eef1akmt3 A G 10: 126,876,862 (GRCm39) L95P probably damaging Het
Fabp7 C T 10: 57,661,087 (GRCm39) probably benign Het
Fam135a T C 1: 24,069,354 (GRCm39) N505S probably benign Het
Fam216b C A 14: 78,322,567 (GRCm39) D46Y probably damaging Het
Gata6 C T 18: 11,054,850 (GRCm39) R260C probably damaging Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Golgb1 A G 16: 36,734,111 (GRCm39) I1160M probably benign Het
Hjv A T 3: 96,435,444 (GRCm39) D234V probably damaging Het
Kiss1 A G 1: 133,255,063 (GRCm39) K26E probably benign Het
Knl1 T A 2: 118,899,780 (GRCm39) F494I probably benign Het
Ktn1 T C 14: 47,932,985 (GRCm39) L713S probably damaging Het
Loxhd1 A G 18: 77,529,513 (GRCm39) D2052G probably damaging Het
Lpo A C 11: 87,698,249 (GRCm39) L582R probably damaging Het
Map2k3 A G 11: 60,834,406 (GRCm39) T125A Het
Matn3 T A 12: 9,011,170 (GRCm39) N360K probably benign Het
Mlip A T 9: 77,072,144 (GRCm39) V237E probably damaging Het
Mms22l T C 4: 24,591,146 (GRCm39) V999A probably benign Het
Mn1 A G 5: 111,568,378 (GRCm39) K783E possibly damaging Het
Myo1h A T 5: 114,457,836 (GRCm39) K132* probably null Het
Nle1 A G 11: 82,795,757 (GRCm39) V230A probably benign Het
Or1ak2 T A 2: 36,827,784 (GRCm39) Y218N probably damaging Het
Or1e1b-ps1 A T 11: 73,845,647 (GRCm39) I44F probably benign Het
Or4a68 T C 2: 89,270,801 (GRCm39) probably benign Het
Or4f62 T G 2: 111,986,804 (GRCm39) C169W probably damaging Het
Or51f23 T C 7: 102,452,891 (GRCm39) S69P probably damaging Het
Or7e169 C T 9: 19,757,856 (GRCm39) D20N probably damaging Het
Ormdl2 T A 10: 128,656,284 (GRCm39) H7L possibly damaging Het
Pam A G 1: 97,823,757 (GRCm39) S225P probably damaging Het
Pan2 C A 10: 128,150,414 (GRCm39) Y719* probably null Het
Ppfia4 T C 1: 134,255,127 (GRCm39) S243G probably benign Het
Ppig T G 2: 69,571,910 (GRCm39) S210A unknown Het
Ppwd1 A T 13: 104,350,106 (GRCm39) N426K probably damaging Het
Prxl2a T A 14: 40,726,142 (GRCm39) M12L probably benign Het
Rnf10 T G 5: 115,382,180 (GRCm39) D675A probably benign Het
Rrp12 A T 19: 41,866,478 (GRCm39) L619H probably damaging Het
Rsph10b C T 5: 143,898,010 (GRCm39) T497I possibly damaging Het
Scnm1 A T 3: 95,041,205 (GRCm39) M1K probably null Het
Scp2 G T 4: 107,931,638 (GRCm39) D332E probably benign Het
Senp3 T C 11: 69,569,557 (GRCm39) I314V probably benign Het
Sfmbt1 T A 14: 30,533,330 (GRCm39) probably null Het
Slc44a2 T C 9: 21,258,103 (GRCm39) F451S probably damaging Het
Slfn1 A T 11: 83,012,837 (GRCm39) M318L probably benign Het
Syne2 C T 12: 76,051,531 (GRCm39) S4087L probably benign Het
Syt7 A G 19: 10,395,337 (GRCm39) Y49C probably damaging Het
Tas2r134 T C 2: 51,518,120 (GRCm39) Y200H probably benign Het
Tgfbr1 A T 4: 47,402,941 (GRCm39) H315L probably damaging Het
Tmem184c A G 8: 78,323,206 (GRCm39) V552A possibly damaging Het
Tnxb A G 17: 34,923,075 (GRCm39) R2553G possibly damaging Het
Tomm40 C G 7: 19,444,861 (GRCm39) R173S probably benign Het
Tonsl T C 15: 76,517,851 (GRCm39) D650G probably damaging Het
Tpo G C 12: 30,153,133 (GRCm39) S407W possibly damaging Het
Trank1 T C 9: 111,174,583 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,378 (GRCm39) E99G probably damaging Het
Tubb2a C A 13: 34,259,505 (GRCm39) S95I possibly damaging Het
Vav2 C A 2: 27,226,731 (GRCm39) R114L probably benign Het
Vmn1r172 A T 7: 23,359,582 (GRCm39) I156L possibly damaging Het
Vmn1r238 A G 18: 3,122,623 (GRCm39) Y264H possibly damaging Het
Vmn2r26 T A 6: 124,016,727 (GRCm39) M397K probably benign Het
Vmn2r73 T C 7: 85,522,075 (GRCm39) N88S probably benign Het
Vps13a T C 19: 16,731,662 (GRCm39) N150S probably damaging Het
Vps35 A T 8: 86,014,350 (GRCm39) Y100N probably damaging Het
Vps8 A C 16: 21,276,171 (GRCm39) I235L probably damaging Het
Yipf2 T A 9: 21,501,657 (GRCm39) H157L probably damaging Het
Zfp354a A T 11: 50,961,073 (GRCm39) H426L probably damaging Het
Zfp503 G T 14: 22,035,553 (GRCm39) S454R possibly damaging Het
Zfp619 C T 7: 39,184,824 (GRCm39) R285C 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
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
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'- TCACATCAGGGGTAATACGTGG -3'
(R):5'- TAGACAGCCCCAGTGTAGAG -3'

Sequencing Primer
(F):5'- GATGTGCCTGCATAGCCCTAG -3'
(R):5'- CCAGTGTAGAGCAGGGTGC -3'
Posted On 2019-06-26