Incidental Mutation 'R6861:Col24a1'
ID 535505
Institutional Source Beutler Lab
Gene Symbol Col24a1
Ensembl Gene ENSMUSG00000028197
Gene Name collagen, type XXIV, alpha 1
Synonyms 5430404K19Rik
MMRRC Submission 044962-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6861 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 144998233-145257766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 145166589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 1075 (G1075S)
Ref Sequence ENSEMBL: ENSMUSP00000029848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029848]
AlphaFold Q30D77
Predicted Effect probably damaging
Transcript: ENSMUST00000029848
AA Change: G1075S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: G1075S

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
TSPN 41 230 2.7e-3 SMART
LamG 106 229 8.07e-2 SMART
Pfam:Collagen 506 565 9.6e-10 PFAM
Pfam:Collagen 561 623 3.4e-10 PFAM
Pfam:Collagen 604 678 2.3e-9 PFAM
low complexity region 682 724 N/A INTRINSIC
Pfam:Collagen 772 837 1.3e-10 PFAM
Pfam:Collagen 865 938 6e-9 PFAM
Pfam:Collagen 967 1042 3.1e-8 PFAM
low complexity region 1056 1075 N/A INTRINSIC
Pfam:Collagen 1107 1180 8e-9 PFAM
Pfam:Collagen 1159 1218 4.2e-10 PFAM
Pfam:Collagen 1218 1279 1.8e-10 PFAM
Pfam:Collagen 1270 1334 3.1e-9 PFAM
Pfam:Collagen 1378 1443 1.3e-9 PFAM
Pfam:Collagen 1439 1500 1.8e-9 PFAM
COLFI 1533 1733 9.34e-34 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the alpha-1 subunit of type XXIV collagen, one of the low abundance fibril-forming collagens found in cartilage. The encoded protein has structural features of invertebrate fibrillar collagens and is expressed predominantly in bone tissue. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 G A 3: 95,588,194 (GRCm39) R598C probably damaging Het
Adra2a T C 19: 54,034,818 (GRCm39) L58P probably damaging Het
Ajm1 C CTCTA 2: 25,469,733 (GRCm39) probably null Het
Alox5ap A G 5: 149,201,927 (GRCm39) D2G probably damaging Het
Arid1b G A 17: 5,377,961 (GRCm39) V1238M possibly damaging Het
Bank1 A G 3: 135,960,764 (GRCm39) V31A probably benign Het
Bptf G A 11: 106,953,391 (GRCm39) T2117M probably damaging Het
Cadps G A 14: 12,522,401 (GRCm38) R588* probably null Het
Cavin4 A G 4: 48,672,214 (GRCm39) I220V probably benign Het
Cep192 G A 18: 67,974,699 (GRCm39) M1267I probably benign Het
Cers5 G A 15: 99,670,244 (GRCm39) probably benign Het
Cfap65 A T 1: 74,964,274 (GRCm39) I558N probably damaging Het
Cfh A T 1: 140,028,621 (GRCm39) S1025T probably benign Het
Cftr A G 6: 18,268,107 (GRCm39) I689V probably benign Het
Cgrrf1 T C 14: 47,069,785 (GRCm39) I18T probably damaging Het
CK137956 A G 4: 127,864,519 (GRCm39) S37P probably damaging Het
Clca4a T C 3: 144,676,416 (GRCm39) D88G probably benign Het
Col11a1 G A 3: 113,961,141 (GRCm39) G1166D probably damaging Het
Crispld2 C T 8: 120,752,852 (GRCm39) T299M probably damaging Het
Cyb561a3 T A 19: 10,562,701 (GRCm39) Y114N probably damaging Het
Cyp3a57 T A 5: 145,307,773 (GRCm39) W147R possibly damaging Het
Dnah2 C A 11: 69,346,789 (GRCm39) R2599L possibly damaging Het
Dock1 T A 7: 134,373,207 (GRCm39) S525T probably benign Het
Drc7 T G 8: 95,789,025 (GRCm39) probably null Het
Efhd2 G T 4: 141,587,192 (GRCm39) probably null Het
Epb41l1 A T 2: 156,367,142 (GRCm39) E658D probably benign Het
Evi5 C T 5: 107,896,184 (GRCm39) S753N probably benign Het
Exoc3 A T 13: 74,337,319 (GRCm39) D427E probably benign Het
Fbxw9 A G 8: 85,792,740 (GRCm39) D363G probably damaging Het
Fcer2a T C 8: 3,732,910 (GRCm39) Y277C probably damaging Het
Fstl5 A T 3: 76,229,523 (GRCm39) Y108F probably damaging Het
Gcn1 A G 5: 115,749,108 (GRCm39) D1880G probably benign Het
Gm4924 T A 10: 82,214,948 (GRCm39) Y915* probably null Het
Gpr139 T A 7: 118,743,875 (GRCm39) I237F probably benign Het
Hao2 A G 3: 98,784,498 (GRCm39) L289S probably damaging Het
Hexim1 A G 11: 103,007,793 (GRCm39) S16G probably benign Het
Hmgcs1 T A 13: 120,161,535 (GRCm39) M109K probably damaging Het
Hs3st4 T A 7: 123,996,052 (GRCm39) N239K possibly damaging Het
Hsd3b5 T A 3: 98,529,328 (GRCm39) N101Y probably damaging Het
Idh2 G A 7: 79,747,966 (GRCm39) P245S probably damaging Het
Irx3 A G 8: 92,525,530 (GRCm39) probably benign Het
Lilra5 A T 7: 4,244,931 (GRCm39) D234V probably benign Het
Lrfn5 G A 12: 61,886,476 (GRCm39) S88N probably damaging Het
Lrp2 A T 2: 69,343,721 (GRCm39) S879R possibly damaging Het
Lsm11 A G 11: 45,824,781 (GRCm39) S249P probably benign Het
Ltbp1 C T 17: 75,534,187 (GRCm39) A543V possibly damaging Het
Mbd1 GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC GTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,645 (GRCm39) Het
Mier2 C T 10: 79,376,990 (GRCm39) probably benign Het
Mup6 G C 4: 60,004,093 (GRCm39) G70A probably benign Het
Neb A G 2: 52,085,732 (GRCm39) L5258P probably damaging Het
Nlrc5 G A 8: 95,247,857 (GRCm39) probably benign Het
Nr6a1 A T 2: 38,630,597 (GRCm39) F207I possibly damaging Het
Or2y1 A T 11: 49,385,632 (GRCm39) T91S probably benign Het
Or5k17 A T 16: 58,746,867 (GRCm39) D22E probably benign Het
Or8b43 T C 9: 38,360,731 (GRCm39) C188R probably damaging Het
Osbp2 A G 11: 3,665,191 (GRCm39) V51A possibly damaging Het
Papln G T 12: 83,821,723 (GRCm39) C317F probably damaging Het
Pdcd7 T C 9: 65,265,904 (GRCm39) S454P probably damaging Het
Pde4a C T 9: 21,116,597 (GRCm39) T473I probably damaging Het
Peg10 CC CCCCATCAGGC 6: 4,756,350 (GRCm39) probably benign Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Peg3 G T 7: 6,714,385 (GRCm39) S279* probably null Het
Rbl1 A G 2: 156,994,887 (GRCm39) Y929H probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Sall3 C A 18: 81,017,590 (GRCm39) E113* probably null Het
Scn5a A C 9: 119,359,089 (GRCm39) F653V probably damaging Het
Selenok T A 14: 29,692,005 (GRCm39) N14K possibly damaging Het
Slc22a20 T C 19: 6,021,838 (GRCm39) T426A probably benign Het
Slc4a2 T A 5: 24,640,007 (GRCm39) S563T probably damaging Het
Sspo T A 6: 48,464,889 (GRCm39) S3798T probably benign Het
Stag3 G T 5: 138,302,969 (GRCm39) R63L possibly damaging Het
Stard9 A T 2: 120,535,667 (GRCm39) M3975L probably benign Het
Syne2 C A 12: 75,956,040 (GRCm39) T582K probably damaging Het
Synj1 G A 16: 90,760,768 (GRCm39) Q748* probably null Het
Tas2r109 T C 6: 132,957,048 (GRCm39) D294G probably benign Het
Tbl1xr1 C T 3: 22,245,603 (GRCm39) T203M possibly damaging Het
Tbl1xr1 T A 3: 22,245,703 (GRCm39) probably null Het
Tcf7l2 A G 19: 55,730,955 (GRCm39) D19G probably damaging Het
Tecta A G 9: 42,248,633 (GRCm39) V1923A possibly damaging Het
Tg T A 15: 66,560,740 (GRCm39) M1034K probably benign Het
Ttf2 T C 3: 100,876,941 (GRCm39) E8G possibly damaging Het
Vps13b T A 15: 35,576,541 (GRCm39) V983E probably damaging Het
Vps35l A G 7: 118,342,898 (GRCm39) H32R probably damaging Het
Vwa2 T C 19: 56,890,025 (GRCm39) V210A probably benign Het
Xkr6 T A 14: 64,057,093 (GRCm39) Y335N probably benign Het
Zfp97 A G 17: 17,365,437 (GRCm39) H312R probably damaging Het
Other mutations in Col24a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Col24a1 APN 3 145,068,064 (GRCm39) missense probably damaging 1.00
IGL00931:Col24a1 APN 3 145,167,225 (GRCm39) missense probably benign 0.00
IGL01160:Col24a1 APN 3 145,213,468 (GRCm39) missense probably damaging 1.00
IGL01355:Col24a1 APN 3 145,020,637 (GRCm39) missense probably benign 0.07
IGL01409:Col24a1 APN 3 145,244,319 (GRCm39) missense probably benign 0.19
IGL01587:Col24a1 APN 3 145,139,110 (GRCm39) splice site probably null
IGL01666:Col24a1 APN 3 145,050,447 (GRCm39) missense possibly damaging 0.93
IGL01717:Col24a1 APN 3 145,230,018 (GRCm39) splice site probably benign
IGL01721:Col24a1 APN 3 145,244,322 (GRCm39) missense probably benign 0.26
IGL01939:Col24a1 APN 3 145,021,005 (GRCm39) missense probably damaging 1.00
IGL01988:Col24a1 APN 3 145,229,922 (GRCm39) splice site probably null
IGL02002:Col24a1 APN 3 145,062,699 (GRCm39) missense possibly damaging 0.81
IGL02172:Col24a1 APN 3 145,020,723 (GRCm39) missense probably benign 0.34
IGL02552:Col24a1 APN 3 145,179,962 (GRCm39) missense possibly damaging 0.88
IGL02559:Col24a1 APN 3 145,019,934 (GRCm39) missense probably benign
IGL02582:Col24a1 APN 3 145,020,247 (GRCm39) missense probably damaging 1.00
IGL02652:Col24a1 APN 3 145,198,056 (GRCm39) nonsense probably null
IGL02942:Col24a1 APN 3 145,247,420 (GRCm39) missense probably damaging 1.00
IGL03032:Col24a1 APN 3 145,244,458 (GRCm39) critical splice donor site probably null
IGL03108:Col24a1 APN 3 145,029,162 (GRCm39) missense probably damaging 1.00
IGL03310:Col24a1 APN 3 145,019,744 (GRCm39) splice site probably benign
IGL03405:Col24a1 APN 3 145,020,918 (GRCm39) missense possibly damaging 0.73
R0066:Col24a1 UTSW 3 145,250,899 (GRCm39) missense probably damaging 1.00
R0066:Col24a1 UTSW 3 145,250,899 (GRCm39) missense probably damaging 1.00
R0379:Col24a1 UTSW 3 145,229,897 (GRCm39) missense possibly damaging 0.94
R0502:Col24a1 UTSW 3 145,251,071 (GRCm39) splice site probably benign
R0556:Col24a1 UTSW 3 145,020,489 (GRCm39) missense possibly damaging 0.53
R0587:Col24a1 UTSW 3 144,998,906 (GRCm39) missense possibly damaging 0.50
R0617:Col24a1 UTSW 3 145,019,881 (GRCm39) missense probably damaging 1.00
R0831:Col24a1 UTSW 3 145,034,520 (GRCm39) missense probably damaging 1.00
R1455:Col24a1 UTSW 3 145,166,593 (GRCm39) missense probably damaging 1.00
R1664:Col24a1 UTSW 3 145,095,355 (GRCm39) critical splice donor site probably null
R1713:Col24a1 UTSW 3 145,072,624 (GRCm39) nonsense probably null
R1854:Col24a1 UTSW 3 145,164,895 (GRCm39) missense probably damaging 1.00
R1855:Col24a1 UTSW 3 145,164,895 (GRCm39) missense probably damaging 1.00
R1861:Col24a1 UTSW 3 145,243,022 (GRCm39) critical splice donor site probably null
R1969:Col24a1 UTSW 3 145,020,691 (GRCm39) missense probably benign 0.03
R2216:Col24a1 UTSW 3 145,020,742 (GRCm39) missense probably benign 0.34
R2290:Col24a1 UTSW 3 145,218,950 (GRCm39) missense probably damaging 1.00
R3702:Col24a1 UTSW 3 145,043,621 (GRCm39) missense probably benign 0.01
R3772:Col24a1 UTSW 3 145,251,041 (GRCm39) missense probably damaging 1.00
R4086:Col24a1 UTSW 3 145,167,192 (GRCm39) missense probably damaging 1.00
R4236:Col24a1 UTSW 3 145,230,037 (GRCm39) nonsense probably null
R4433:Col24a1 UTSW 3 145,020,144 (GRCm39) missense possibly damaging 0.95
R4688:Col24a1 UTSW 3 145,020,144 (GRCm39) missense probably benign 0.00
R4972:Col24a1 UTSW 3 145,215,439 (GRCm39) missense probably benign 0.42
R5157:Col24a1 UTSW 3 145,051,712 (GRCm39) nonsense probably null
R5216:Col24a1 UTSW 3 145,021,071 (GRCm39) missense possibly damaging 0.85
R5274:Col24a1 UTSW 3 145,190,433 (GRCm39) missense probably benign 0.03
R5334:Col24a1 UTSW 3 145,167,280 (GRCm39) missense possibly damaging 0.91
R5416:Col24a1 UTSW 3 145,020,786 (GRCm39) nonsense probably null
R5473:Col24a1 UTSW 3 145,243,016 (GRCm39) missense probably benign 0.41
R5538:Col24a1 UTSW 3 144,998,882 (GRCm39) missense probably damaging 0.99
R5561:Col24a1 UTSW 3 145,004,588 (GRCm39) missense probably benign 0.26
R5648:Col24a1 UTSW 3 145,064,321 (GRCm39) missense probably benign 0.00
R5920:Col24a1 UTSW 3 145,133,985 (GRCm39) missense probably damaging 1.00
R6111:Col24a1 UTSW 3 145,019,815 (GRCm39) missense probably damaging 0.99
R6151:Col24a1 UTSW 3 145,019,815 (GRCm39) missense probably damaging 0.99
R6701:Col24a1 UTSW 3 145,020,141 (GRCm39) missense probably benign 0.00
R6728:Col24a1 UTSW 3 145,020,957 (GRCm39) missense probably benign
R6734:Col24a1 UTSW 3 145,214,429 (GRCm39) missense probably benign 0.06
R6982:Col24a1 UTSW 3 145,020,807 (GRCm39) nonsense probably null
R7001:Col24a1 UTSW 3 145,004,627 (GRCm39) missense probably benign 0.28
R7148:Col24a1 UTSW 3 145,021,060 (GRCm39) missense probably damaging 1.00
R7293:Col24a1 UTSW 3 145,192,059 (GRCm39) nonsense probably null
R7315:Col24a1 UTSW 3 145,137,625 (GRCm39) missense possibly damaging 0.82
R7358:Col24a1 UTSW 3 144,998,926 (GRCm39) critical splice donor site probably null
R7371:Col24a1 UTSW 3 145,049,459 (GRCm39) missense probably benign 0.06
R7383:Col24a1 UTSW 3 145,004,599 (GRCm39) missense probably benign
R7605:Col24a1 UTSW 3 145,244,442 (GRCm39) missense possibly damaging 0.67
R7650:Col24a1 UTSW 3 145,020,214 (GRCm39) missense probably benign 0.00
R7679:Col24a1 UTSW 3 145,105,110 (GRCm39) missense possibly damaging 0.81
R7701:Col24a1 UTSW 3 145,072,656 (GRCm39) splice site probably null
R7701:Col24a1 UTSW 3 145,020,772 (GRCm39) missense probably benign
R7805:Col24a1 UTSW 3 145,019,901 (GRCm39) missense probably benign 0.02
R7913:Col24a1 UTSW 3 145,137,621 (GRCm39) nonsense probably null
R7921:Col24a1 UTSW 3 145,179,993 (GRCm39) missense probably damaging 1.00
R8056:Col24a1 UTSW 3 145,019,925 (GRCm39) missense possibly damaging 0.73
R8240:Col24a1 UTSW 3 145,213,457 (GRCm39) missense probably benign 0.31
R8294:Col24a1 UTSW 3 145,186,844 (GRCm39) missense probably null 1.00
R8305:Col24a1 UTSW 3 145,179,937 (GRCm39) missense probably benign 0.00
R8430:Col24a1 UTSW 3 145,021,060 (GRCm39) missense probably damaging 1.00
R8708:Col24a1 UTSW 3 145,251,020 (GRCm39) missense probably damaging 0.99
R8880:Col24a1 UTSW 3 145,019,798 (GRCm39) missense probably null
R9056:Col24a1 UTSW 3 145,021,009 (GRCm39) missense probably damaging 0.96
R9461:Col24a1 UTSW 3 145,186,879 (GRCm39) nonsense probably null
R9612:Col24a1 UTSW 3 145,250,960 (GRCm39) missense probably benign 0.32
R9777:Col24a1 UTSW 3 145,021,103 (GRCm39) nonsense probably null
Z1176:Col24a1 UTSW 3 145,048,259 (GRCm39) missense probably damaging 1.00
Z1177:Col24a1 UTSW 3 145,048,260 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGAGCTCTTCCAGGAAAC -3'
(R):5'- AGTTTGAAGCTAGCCTAGGATAC -3'

Sequencing Primer
(F):5'- CTTCCAGGAAACTTCAATCACGTGTG -3'
(R):5'- GCTAGCCTAGGATACAAGATATCATC -3'
Posted On 2018-09-12