Incidental Mutation 'R5473:Col24a1'
ID 433916
Institutional Source Beutler Lab
Gene Symbol Col24a1
Ensembl Gene ENSMUSG00000028197
Gene Name collagen, type XXIV, alpha 1
Synonyms 5430404K19Rik
MMRRC Submission 043034-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5473 (G1)
Quality Score 210
Status Validated
Chromosome 3
Chromosomal Location 144998233-145257766 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 145243016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1519 (M1519L)
Ref Sequence ENSEMBL: ENSMUSP00000029848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029848]
AlphaFold Q30D77
Predicted Effect probably benign
Transcript: ENSMUST00000029848
AA Change: M1519L

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: M1519L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127379
Meta Mutation Damage Score 0.1300 question?
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 100% (66/66)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T C 7: 119,312,173 (GRCm39) Y549H probably damaging Het
Adamtsl4 G T 3: 95,587,303 (GRCm39) Q758K probably damaging Het
Anapc1 G T 2: 128,449,115 (GRCm39) probably benign Het
Ankrd26 A T 6: 118,492,797 (GRCm39) C1316S probably benign Het
Birc5 T C 11: 117,743,533 (GRCm39) V89A possibly damaging Het
Camk2d G T 3: 126,391,048 (GRCm39) probably benign Het
Ccdc47 A T 11: 106,095,855 (GRCm39) S280R probably damaging Het
Cntnap5a T A 1: 116,016,986 (GRCm39) F193Y probably benign Het
Cntrob G T 11: 69,213,579 (GRCm39) D70E possibly damaging Het
Col2a1 G T 15: 97,885,370 (GRCm39) A491D unknown Het
Crat A G 2: 30,297,726 (GRCm39) L266P probably damaging Het
Dlgap1 A T 17: 70,824,025 (GRCm39) probably benign Het
Dnaaf10 T C 11: 17,174,591 (GRCm39) V153A probably damaging Het
Eya4 T A 10: 23,039,351 (GRCm39) H104L probably benign Het
Fam83b T C 9: 76,398,782 (GRCm39) K774E probably damaging Het
Fgd6 T C 10: 93,880,538 (GRCm39) I464T probably benign Het
Gorasp2 A C 2: 70,508,950 (GRCm39) M123L probably damaging Het
H2-M10.3 A T 17: 36,678,261 (GRCm39) V188E probably damaging Het
Hnrnpk A T 13: 58,541,913 (GRCm39) W333R probably damaging Het
Hrh4 T C 18: 13,154,985 (GRCm39) Y175H probably benign Het
Igf2r G T 17: 12,914,201 (GRCm39) T1756K probably benign Het
Kcnq5 A G 1: 21,527,626 (GRCm39) probably null Het
Kiz G T 2: 146,811,915 (GRCm39) E675* probably null Het
Mcm3ap T G 10: 76,338,593 (GRCm39) L1407R probably damaging Het
Mdc1 A G 17: 36,158,952 (GRCm39) D444G probably benign Het
Myl3 C A 9: 110,597,026 (GRCm39) H129N probably damaging Het
Neo1 T C 9: 58,788,126 (GRCm39) N1309S possibly damaging Het
Nrxn1 A T 17: 90,897,520 (GRCm39) Y269N probably damaging Het
Nsd1 A G 13: 55,395,585 (GRCm39) N1165S probably damaging Het
Nuf2 T C 1: 169,334,856 (GRCm39) D302G probably benign Het
Olfr908 A G 9: 38,427,508 (GRCm39) Y60C probably damaging Het
Or10j3 G C 1: 173,031,732 (GRCm39) G270R probably benign Het
Or14j1 T C 17: 38,146,630 (GRCm39) F247L probably benign Het
Or5d38 A T 2: 87,954,981 (GRCm39) M116K possibly damaging Het
Oxsm A T 14: 16,242,045 (GRCm38) S241R probably damaging Het
Pde1a G T 2: 79,736,372 (GRCm39) S87R probably damaging Het
Plagl2 A T 2: 153,074,114 (GRCm39) C262* probably null Het
Plcg2 A G 8: 118,361,140 (GRCm39) K1233R probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Ppfia1 A T 7: 144,045,229 (GRCm39) M951K probably benign Het
Pramel12 A G 4: 143,145,874 (GRCm39) R448G probably damaging Het
Prpf31 A G 7: 3,642,824 (GRCm39) K438E probably benign Het
Pum3 C A 19: 27,396,248 (GRCm39) V328F probably damaging Het
Ralgapa1 T C 12: 55,723,495 (GRCm39) E1677G probably benign Het
Rpf2 A G 10: 40,103,627 (GRCm39) V96A possibly damaging Het
Rsrc2 C T 5: 123,869,150 (GRCm39) A98T probably damaging Het
Saraf G A 8: 34,628,412 (GRCm39) R86Q probably damaging Het
Scara5 T A 14: 65,977,788 (GRCm39) D349E possibly damaging Het
Slc30a1 T C 1: 191,641,734 (GRCm39) V460A possibly damaging Het
Tdrd7 G T 4: 46,020,877 (GRCm39) V768L possibly damaging Het
Tshz2 T C 2: 169,725,718 (GRCm39) S105P probably benign Het
Ufsp2 A G 8: 46,445,258 (GRCm39) I362M probably damaging Het
Ugt1a7c T A 1: 88,023,159 (GRCm39) I106K probably benign Het
Zdhhc5 A G 2: 84,520,810 (GRCm39) Y456H 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
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
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'- ACGTTTCGCATCAAGGCTCC -3'
(R):5'- GAACACCCCGTGTATGTATTTCGG -3'

Sequencing Primer
(F):5'- CCAGAACAAAATGAACAGAGGTTGTC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2016-10-06