Incidental Mutation 'R7383:Col24a1'
ID 572855
Institutional Source Beutler Lab
Gene Symbol Col24a1
Ensembl Gene ENSMUSG00000028197
Gene Name collagen, type XXIV, alpha 1
Synonyms 5430404K19Rik
MMRRC Submission 045465-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7383 (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 G at 145004599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 26 (I26V)
Ref Sequence ENSEMBL: ENSMUSP00000029848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029848] [ENSMUST00000139001]
AlphaFold Q30D77
Predicted Effect probably benign
Transcript: ENSMUST00000029848
AA Change: I26V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: I26V

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 unknown
Transcript: ENSMUST00000139001
AA Change: Y29C
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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
Aebp1 T A 11: 5,818,548 (GRCm39) I511N probably damaging Het
Ap5m1 T G 14: 49,311,653 (GRCm39) V241G possibly damaging Het
BC049715 T A 6: 136,817,453 (GRCm39) I231N probably damaging Het
Bckdhb T G 9: 83,835,766 (GRCm39) V90G possibly damaging Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Chd8 T C 14: 52,452,776 (GRCm39) I1248V probably damaging Het
Ckap2l A T 2: 129,111,172 (GRCm39) M675K possibly damaging Het
Ckap4 A T 10: 84,364,148 (GRCm39) V305E probably damaging Het
Clasrp C A 7: 19,319,198 (GRCm39) R489L unknown Het
Cort C T 4: 149,209,861 (GRCm39) A64T possibly damaging Het
Dmkn T A 7: 30,464,793 (GRCm39) N255K unknown Het
Dph2 A T 4: 117,748,566 (GRCm39) L69Q probably damaging Het
Fbxo11 A G 17: 88,310,282 (GRCm39) I432T Het
Fgd3 T C 13: 49,421,785 (GRCm39) K531R possibly damaging Het
Fgd5 A G 6: 91,964,099 (GRCm39) K111E probably benign Het
Gdf6 T A 4: 9,859,537 (GRCm39) D206E probably benign Het
Gtpbp1 T A 15: 79,600,354 (GRCm39) L429Q probably damaging Het
Hk2 A G 6: 82,726,276 (GRCm39) F90S probably damaging Het
Hrnr A T 3: 93,239,098 (GRCm39) Q3112L unknown Het
Hsd17b4 A C 18: 50,297,917 (GRCm39) K402T probably benign Het
Htr1f T C 16: 64,747,206 (GRCm39) T29A probably benign Het
Ikbkb C A 8: 23,159,066 (GRCm39) A471S probably benign Het
Inpp5f A G 7: 128,296,310 (GRCm39) D887G probably damaging Het
Ipo9 A G 1: 135,316,411 (GRCm39) L805P probably damaging Het
Jmjd1c A T 10: 67,025,537 (GRCm39) N118I probably benign Het
Kif26b T G 1: 178,358,275 (GRCm39) C129G probably damaging Het
Mga G A 2: 119,790,821 (GRCm39) A2236T probably damaging Het
Micu2 T C 14: 58,154,810 (GRCm39) Q405R possibly damaging Het
Myo1e T A 9: 70,204,577 (GRCm39) V59D probably damaging Het
Nav3 A G 10: 109,552,532 (GRCm39) I1770T probably damaging Het
Ndufa10 A T 1: 92,392,183 (GRCm39) I190N probably damaging Het
Niban3 A C 8: 72,056,470 (GRCm39) E390A possibly damaging Het
Npat T A 9: 53,474,078 (GRCm39) H623Q probably benign Het
Npc1l1 T C 11: 6,167,777 (GRCm39) T1005A probably benign Het
Or10ag58 A G 2: 87,265,721 (GRCm39) S297G possibly damaging Het
Or14c39 A T 7: 86,343,960 (GRCm39) I99F probably damaging Het
Or1e22 A G 11: 73,376,715 (GRCm39) *312Q probably null Het
Or2b4 A G 17: 38,116,972 (GRCm39) K312R probably benign Het
Or2w3 T C 11: 58,557,011 (GRCm39) S209P possibly damaging Het
Or5t7 A G 2: 86,507,263 (GRCm39) V138A possibly damaging Het
Or8s8 C G 15: 98,354,578 (GRCm39) P129R probably damaging Het
Pafah1b2 C T 9: 45,880,147 (GRCm39) G177R probably benign Het
Phc1 A G 6: 122,300,317 (GRCm39) S521P unknown Het
Plpp2 A T 10: 79,366,841 (GRCm39) L25Q probably null Het
Plxna4 A G 6: 32,129,734 (GRCm39) probably null Het
Ppl G T 16: 4,915,835 (GRCm39) P576Q probably damaging Het
Rab38 T C 7: 88,079,637 (GRCm39) Y10H possibly damaging Het
Rbfox1 G A 16: 6,887,899 (GRCm39) G13S probably benign Het
Rhot1 C G 11: 80,114,760 (GRCm39) P56R probably damaging Het
Sipa1l2 A G 8: 126,174,385 (GRCm39) W1298R probably damaging Het
Slc16a14 G A 1: 84,890,292 (GRCm39) H338Y probably damaging Het
Slc8a3 T G 12: 81,362,579 (GRCm39) Y80S probably damaging Het
Slco6c1 A T 1: 97,003,608 (GRCm39) Y513* probably null Het
Smarcd2 A G 11: 106,155,602 (GRCm39) C405R probably damaging Het
Szt2 G A 4: 118,222,411 (GRCm39) R3198* probably null Het
Tmeff1 T A 4: 48,636,841 (GRCm39) C180S probably damaging Het
Tmem132a A T 19: 10,844,358 (GRCm39) M80K probably benign Het
Tnfsf12 A G 11: 69,577,892 (GRCm39) V175A probably damaging Het
Tnpo2 G A 8: 85,776,748 (GRCm39) R485H probably damaging Het
Togaram2 A T 17: 72,007,512 (GRCm39) I354F probably damaging Het
Uchl5 T A 1: 143,659,753 (GRCm39) S42R probably benign Het
Virma C A 4: 11,514,026 (GRCm39) L627I probably damaging Het
Vmn2r12 A T 5: 109,240,684 (GRCm39) I143K probably benign Het
Vmn2r95 T G 17: 18,660,734 (GRCm39) V382G probably benign Het
Wipf3 G T 6: 54,462,263 (GRCm39) A158S probably benign Het
Ylpm1 T G 12: 85,091,242 (GRCm39) S1809A possibly damaging Het
Zdhhc5 A T 2: 84,524,748 (GRCm39) C191S probably benign Het
Zer1 G A 2: 30,001,253 (GRCm39) R84C probably damaging Het
Zfhx2 A T 14: 55,305,710 (GRCm39) V991D probably benign Het
Zscan4b C A 7: 10,637,960 (GRCm39) M61I possibly damaging Het
Zswim2 A T 2: 83,745,672 (GRCm39) S589T 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
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'- TACTGAACACGGCTCATTCTAAAG -3'
(R):5'- CTGTTGCAAGCAGAAATGCTG -3'

Sequencing Primer
(F):5'- TCATTCTAAAGCGGTGGACC -3'
(R):5'- TGTGCAGCATCCGCAAATG -3'
Posted On 2019-09-13