Incidental Mutation 'R7605:Col24a1'
ID 588221
Institutional Source Beutler Lab
Gene Symbol Col24a1
Ensembl Gene ENSMUSG00000028197
Gene Name collagen, type XXIV, alpha 1
Synonyms 5430404K19Rik
MMRRC Submission 045675-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7605 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 144998233-145257766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 145244442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 1572 (Y1572F)
Ref Sequence ENSEMBL: ENSMUSP00000029848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029848]
AlphaFold Q30D77
Predicted Effect possibly damaging
Transcript: ENSMUST00000029848
AA Change: Y1572F

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: Y1572F

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,881,899 (GRCm39) L610P probably damaging Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Asphd2 A G 5: 112,539,807 (GRCm39) W9R probably damaging Het
Blvrb T A 7: 27,165,218 (GRCm39) H179Q probably damaging Het
Capn13 A T 17: 73,652,132 (GRCm39) probably null Het
Casp6 A T 3: 129,705,812 (GRCm39) M160L probably benign Het
Chordc1 A G 9: 18,215,668 (GRCm39) E140G probably benign Het
Cul9 A G 17: 46,852,658 (GRCm39) S235P probably damaging Het
Cyp2u1 A T 3: 131,091,602 (GRCm39) M306K probably damaging Het
Dhx33 A G 11: 70,890,299 (GRCm39) L240P probably damaging Het
Dna2 T A 10: 62,796,054 (GRCm39) D494E probably benign Het
Dnah7c C T 1: 46,671,470 (GRCm39) R1620C probably damaging Het
Dpp8 G A 9: 64,962,240 (GRCm39) V427M probably benign Het
Dpt G A 1: 164,624,400 (GRCm39) G34S unknown Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Entpd5 T G 12: 84,443,482 (GRCm39) H62P probably damaging Het
Ep300 A C 15: 81,505,353 (GRCm39) M658L unknown Het
Epb41l4a T A 18: 33,930,504 (GRCm39) D651V probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ephb2 A T 4: 136,498,419 (GRCm39) V220E probably damaging Het
Fam187a T A 11: 102,776,874 (GRCm39) L226H possibly damaging Het
Fbxo42 G A 4: 140,927,129 (GRCm39) A470T probably benign Het
Fcgrt C T 7: 44,744,675 (GRCm39) W264* probably null Het
Flt3 A C 5: 147,286,386 (GRCm39) H733Q probably benign Het
Gabrr2 A G 4: 33,082,560 (GRCm39) D228G probably damaging Het
Gars1 T C 6: 55,054,735 (GRCm39) S681P probably damaging Het
Gata2 T C 6: 88,177,390 (GRCm39) V140A possibly damaging Het
Gm8232 A T 14: 44,672,384 (GRCm39) N100I Het
Grik4 A G 9: 42,599,367 (GRCm39) C37R probably damaging Het
Grm8 T C 6: 27,618,678 (GRCm39) E388G probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Igsf9b C T 9: 27,234,608 (GRCm39) T491I probably damaging Het
Impa1 C T 3: 10,389,147 (GRCm39) V105I probably damaging Het
Inf2 A G 12: 112,567,771 (GRCm39) T134A probably damaging Het
Itgb4 T A 11: 115,897,302 (GRCm39) V1521E probably benign Het
Iws1 T A 18: 32,222,540 (GRCm39) D623E probably benign Het
Lhfpl5 T C 17: 28,795,305 (GRCm39) S111P possibly damaging Het
Lyzl1 T C 18: 4,169,244 (GRCm39) C83R probably damaging Het
Madd G A 2: 91,000,055 (GRCm39) T617M possibly damaging Het
Magi2 A G 5: 20,433,383 (GRCm39) T163A probably damaging Het
Mdn1 C A 4: 32,694,599 (GRCm39) H1107Q probably damaging Het
Mfsd14b A T 13: 65,214,591 (GRCm39) Y454N probably benign Het
Mrgprb3 T A 7: 48,292,862 (GRCm39) I230F probably benign Het
Mroh2b C T 15: 4,974,505 (GRCm39) L1162F probably damaging Het
Or11i1 G T 3: 106,729,337 (GRCm39) H179Q probably damaging Het
Or2aj5 T C 16: 19,425,022 (GRCm39) Y131C probably damaging Het
Or51f23b C T 7: 102,402,952 (GRCm39) M61I probably benign Het
Or51m1 T C 7: 103,578,075 (GRCm39) L15P probably damaging Het
Or5ar1 A G 2: 85,671,383 (GRCm39) F251L probably benign Het
Or9e1 A G 11: 58,732,326 (GRCm39) I129V probably benign Het
Pclo T C 5: 14,729,050 (GRCm39) L2636P unknown Het
Pfkm G A 15: 98,019,191 (GRCm39) A181T probably damaging Het
Pik3r1 C T 13: 101,839,346 (GRCm39) A169T probably benign Het
R3hdml T A 2: 163,337,688 (GRCm39) M114K probably damaging Het
Robo1 C A 16: 72,821,189 (GRCm39) R1310S probably benign Het
Scnm1 A T 3: 95,040,186 (GRCm39) N115K probably benign Het
Sfn A G 4: 133,328,548 (GRCm39) V178A probably damaging Het
Shank2 C T 7: 143,645,516 (GRCm39) T366I possibly damaging Het
Siah1a T C 8: 87,451,953 (GRCm39) D177G probably damaging Het
Slc37a2 A C 9: 37,148,624 (GRCm39) I286S possibly damaging Het
Smarce1 T C 11: 99,119,118 (GRCm39) T12A probably benign Het
Spata31d1c T A 13: 65,183,654 (GRCm39) S399T probably benign Het
Specc1 A G 11: 62,102,506 (GRCm39) S942G possibly damaging Het
Syt13 T C 2: 92,773,478 (GRCm39) F164S probably benign Het
Topbp1 A T 9: 103,209,905 (GRCm39) T851S probably benign Het
Ttn A T 2: 76,800,015 (GRCm39) S398T unknown Het
Vmn1r12 T C 6: 57,136,521 (GRCm39) V206A probably damaging Het
Vmn1r224 G A 17: 20,640,221 (GRCm39) W266* probably null Het
Vmn2r68 T C 7: 84,883,116 (GRCm39) D212G probably benign Het
Vps13b G T 15: 35,770,792 (GRCm39) K2078N probably damaging Het
Zfp251 A C 15: 76,738,557 (GRCm39) F179V possibly 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
R6861:Col24a1 UTSW 3 145,166,589 (GRCm39) missense probably damaging 1.00
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
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'- TGTGCAGATTGTTATCAGGATCTTC -3'
(R):5'- GCACAGAGTCGAGTCTTTTCAC -3'

Sequencing Primer
(F):5'- GACCTTAATCAGCCACAG -3'
(R):5'- GAGTCGAGTCTTTTCACAAGTATATC -3'
Posted On 2019-10-24