Incidental Mutation 'R6701:Col24a1'
ID 528726
Institutional Source Beutler Lab
Gene Symbol Col24a1
Ensembl Gene ENSMUSG00000028197
Gene Name collagen, type XXIV, alpha 1
Synonyms 5430404K19Rik
MMRRC Submission 044819-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6701 (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 145020141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 171 (T171A)
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: T171A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: T171A

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 probably benign
Transcript: ENSMUST00000139001
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 96.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap12 A T 10: 4,305,243 (GRCm39) K684N probably damaging Het
Akna C T 4: 63,313,517 (GRCm39) G202D probably benign Het
Alpk1 T A 3: 127,522,985 (GRCm39) D19V probably damaging Het
Arid4a A T 12: 71,134,286 (GRCm39) K1196I probably damaging Het
Asic3 A T 5: 24,619,127 (GRCm39) M140L possibly damaging Het
Bfsp2 C T 9: 103,357,077 (GRCm39) V117M possibly damaging Het
Bltp3a T A 17: 28,106,331 (GRCm39) C952* probably null Het
Cd244a C A 1: 171,401,723 (GRCm39) L150M possibly damaging Het
Cd3e T C 9: 44,912,351 (GRCm39) Y131C probably damaging Het
Clptm1l T C 13: 73,757,025 (GRCm39) I202T probably benign Het
Cnot4 G T 6: 35,045,539 (GRCm39) T224K probably damaging Het
Col6a3 C T 1: 90,720,184 (GRCm39) R1552Q probably benign Het
Dcc T A 18: 71,942,191 (GRCm39) T309S probably benign Het
Ddx21 T C 10: 62,426,470 (GRCm39) Y461C probably damaging Het
Dnah10 G A 5: 124,837,223 (GRCm39) V989M probably benign Het
Dppa4 A T 16: 48,111,674 (GRCm39) K220* probably null Het
Dysf G A 6: 84,089,172 (GRCm39) G912S probably damaging Het
Efhb A T 17: 53,706,091 (GRCm39) N815K probably benign Het
Eml6 T A 11: 29,735,748 (GRCm39) L1139F probably damaging Het
Eprs1 T G 1: 185,103,087 (GRCm39) I78S probably damaging Het
Fat1 C A 8: 45,403,718 (GRCm39) S156R probably damaging Het
Firrm T C 1: 163,799,412 (GRCm39) probably null Het
Frzb G A 2: 80,277,163 (GRCm39) R8W possibly damaging Het
Guf1 T A 5: 69,715,596 (GRCm39) D47E probably damaging Het
Haus3 A T 5: 34,325,078 (GRCm39) F194I probably damaging Het
Hivep3 C T 4: 119,951,737 (GRCm39) R18W probably damaging Het
Hnf1b A G 11: 83,779,920 (GRCm39) T392A probably damaging Het
Hsd17b1 C A 11: 100,970,981 (GRCm39) C312* probably null Het
Ighg2b T C 12: 113,270,699 (GRCm39) T144A unknown Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Irag2 G T 6: 145,090,702 (GRCm39) E61* probably null Het
Jhy T C 9: 40,828,887 (GRCm39) R340G probably damaging Het
Klra3 C G 6: 130,307,216 (GRCm39) V144L probably benign Het
Lamp5 C G 2: 135,901,483 (GRCm39) N102K possibly damaging Het
Lrrc4 A G 6: 28,830,905 (GRCm39) F237L possibly damaging Het
Lyst T A 13: 13,856,070 (GRCm39) C2464S probably benign Het
Maml1 T C 11: 50,157,509 (GRCm39) E222G probably damaging Het
Med15 C T 16: 17,489,447 (GRCm39) probably benign Het
Naalad2 T C 9: 18,296,444 (GRCm39) I69V probably null Het
Neb T C 2: 52,181,220 (GRCm39) K1129R probably damaging Het
Nsun6 A T 2: 15,041,113 (GRCm39) N159K probably benign Het
Nup153 A T 13: 46,840,541 (GRCm39) N1022K probably benign Het
Or1e29 T C 11: 73,667,296 (GRCm39) N286D probably damaging Het
Or5g9 A G 2: 85,552,675 (GRCm39) K309E probably benign Het
Or5w15 C T 2: 87,567,753 (GRCm39) R305K probably benign Het
Otof T A 5: 30,528,141 (GRCm39) K1901* probably null Het
Pde1c A T 6: 56,158,685 (GRCm39) Y136N probably damaging Het
Phc1 G T 6: 122,302,733 (GRCm39) N263K probably damaging Het
Plxna1 A T 6: 89,296,430 (GRCm39) D1871E probably damaging Het
Prdm6 T A 18: 53,669,751 (GRCm39) M123K possibly damaging Het
Ranbp17 T C 11: 33,425,066 (GRCm39) D430G probably damaging Het
Rsl24d1 C A 9: 73,022,279 (GRCm39) T287K probably damaging Het
Scn1a G A 2: 66,168,304 (GRCm39) R101W probably damaging Het
Scn8a A G 15: 100,937,977 (GRCm39) D1741G probably damaging Het
Serpinb1c T C 13: 33,080,924 (GRCm39) Q53R probably benign Het
Serpinf2 C T 11: 75,323,269 (GRCm39) R479H probably damaging Het
Sis T A 3: 72,856,860 (GRCm39) D448V probably damaging Het
Slc27a6 T A 18: 58,712,947 (GRCm39) D256E probably benign Het
Slc30a8 A G 15: 52,194,970 (GRCm39) Y243C possibly damaging Het
Slc35f5 T C 1: 125,490,347 (GRCm39) V103A probably damaging Het
Slc44a2 T C 9: 21,232,149 (GRCm39) probably null Het
Slc7a9 T C 7: 35,159,274 (GRCm39) L327P probably damaging Het
Stat4 A G 1: 52,142,133 (GRCm39) Y660C probably damaging Het
Terb1 T C 8: 105,199,388 (GRCm39) T519A possibly damaging Het
Tonsl A T 15: 76,513,500 (GRCm39) S1245T probably damaging Het
Ttn A T 2: 76,619,162 (GRCm39) S16072R probably damaging Het
Ttn A T 2: 76,739,590 (GRCm39) Y3650N probably benign Het
Uso1 T C 5: 92,314,444 (GRCm39) F117S probably damaging Het
Vmn1r211 T C 13: 23,035,779 (GRCm39) H296R probably benign Het
Vmn2r67 G A 7: 84,802,023 (GRCm39) P93S probably damaging Het
Xirp2 A T 2: 67,346,569 (GRCm39) I2937F possibly damaging Het
Zc2hc1c C A 12: 85,336,446 (GRCm39) probably null Het
Zfp12 T C 5: 143,230,219 (GRCm39) V182A probably benign Het
Zfp473 G T 7: 44,382,218 (GRCm39) A705D possibly damaging Het
Zfp937 G T 2: 150,081,136 (GRCm39) G389C probably damaging Het
Zfp990 A G 4: 145,264,748 (GRCm39) D582G probably benign 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
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'- CACTGACAGTATTGATTGGGTTGC -3'
(R):5'- CAGGTGTCTGCAATACTCCG -3'

Sequencing Primer
(F):5'- GGGTTGCAATCATTCAAAGTGAAC -3'
(R):5'- GCTGTGGAAGGCATGATCTCC -3'
Posted On 2018-07-24