Incidental Mutation 'R1713:Col24a1'
ID 190751
Institutional Source Beutler Lab
Gene Symbol Col24a1
Ensembl Gene ENSMUSG00000028197
Gene Name collagen, type XXIV, alpha 1
Synonyms 5430404K19Rik
MMRRC Submission 039746-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1713 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 144998233-145257766 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 145072624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 780 (Q780*)
Ref Sequence ENSEMBL: ENSMUSP00000029848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029848]
AlphaFold Q30D77
Predicted Effect probably null
Transcript: ENSMUST00000029848
AA Change: Q780*
SMART Domains Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: Q780*

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
Meta Mutation Damage Score 0.9667 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 98% (96/98)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,964 (GRCm39) I54F possibly damaging Het
Ackr1 A T 1: 173,159,916 (GRCm39) H134Q probably benign Het
Agtr1b A T 3: 20,370,473 (GRCm39) F44L probably benign Het
Ahnak G A 19: 8,989,173 (GRCm39) D3486N possibly damaging Het
Akap9 T C 5: 4,089,345 (GRCm39) probably null Het
Anks6 T A 4: 47,039,726 (GRCm39) Q495L probably benign Het
Arpp21 A G 9: 111,896,237 (GRCm39) S684P probably damaging Het
Ash1l A G 3: 88,983,531 (GRCm39) E2911G probably damaging Het
Avpi1 C T 19: 42,113,248 (GRCm39) E70K probably damaging Het
Btbd17 G T 11: 114,686,650 (GRCm39) P9T probably benign Het
C4b A G 17: 34,948,245 (GRCm39) probably benign Het
Carm1 T C 9: 21,497,785 (GRCm39) V385A probably damaging Het
Casd1 A G 6: 4,624,104 (GRCm39) D299G probably damaging Het
Clca3a1 T A 3: 144,730,307 (GRCm39) K179N probably benign Het
Col1a2 T C 6: 4,538,691 (GRCm39) S1204P unknown Het
Cxadr C A 16: 78,131,133 (GRCm39) N216K probably damaging Het
Daam1 C T 12: 71,942,656 (GRCm39) T40I unknown Het
Dab2 C T 15: 6,459,182 (GRCm39) P365S possibly damaging Het
Dnah1 A T 14: 31,001,139 (GRCm39) I2402N probably damaging Het
Dscaml1 T A 9: 45,663,988 (GRCm39) S1954R possibly damaging Het
Dync2h1 T C 9: 7,131,891 (GRCm39) T1639A probably benign Het
Ebf1 A T 11: 44,815,393 (GRCm39) I336F probably damaging Het
Ebna1bp2 A G 4: 118,482,881 (GRCm39) N290S possibly damaging Het
Gabra2 A G 5: 71,171,906 (GRCm39) I110T probably benign Het
Galk2 A G 2: 125,773,210 (GRCm39) N203S probably benign Het
Gria4 T C 9: 4,424,448 (GRCm39) T806A probably benign Het
Impg2 A G 16: 56,080,889 (GRCm39) T789A probably benign Het
Itga6 A G 2: 71,617,546 (GRCm39) T22A probably benign Het
Itgb4 T A 11: 115,894,315 (GRCm39) I1312N probably damaging Het
Kdm4c A G 4: 74,216,721 (GRCm39) D160G probably benign Het
Kdr A G 5: 76,129,127 (GRCm39) V173A probably benign Het
Kif14 T C 1: 136,455,202 (GRCm39) S1575P probably benign Het
Lcp1 G A 14: 75,436,884 (GRCm39) probably null Het
Lipe C A 7: 25,084,750 (GRCm39) S516I probably damaging Het
Lrrc61 G A 6: 48,545,708 (GRCm39) R177Q possibly damaging Het
Macf1 A G 4: 123,272,487 (GRCm39) I6429T probably damaging Het
Map3k4 C T 17: 12,468,458 (GRCm39) E1012K probably benign Het
Map3k5 T C 10: 19,986,593 (GRCm39) F936L possibly damaging Het
Mllt3 A T 4: 87,701,901 (GRCm39) N497K probably damaging Het
Moxd1 G A 10: 24,157,394 (GRCm39) G342D probably damaging Het
Mtdh A C 15: 34,114,985 (GRCm39) Q202H possibly damaging Het
Nav1 A G 1: 135,522,972 (GRCm39) probably benign Het
Nop56 T C 2: 130,119,886 (GRCm39) V109A possibly damaging Het
Obscn T C 11: 58,970,712 (GRCm39) D2540G probably damaging Het
Omg T C 11: 79,393,679 (GRCm39) I60V probably benign Het
Or10q12 A T 19: 13,746,659 (GRCm39) T318S probably benign Het
Or12e9 A T 2: 87,202,290 (GRCm39) Y138F probably damaging Het
Osbpl5 G A 7: 143,248,110 (GRCm39) H652Y probably damaging Het
Parvb T C 15: 84,182,192 (GRCm39) probably benign Het
Pcdhb3 A C 18: 37,436,375 (GRCm39) E780D probably benign Het
Pik3c3 A G 18: 30,456,639 (GRCm39) D723G possibly damaging Het
Prkdc T C 16: 15,612,958 (GRCm39) V3172A probably benign Het
Psme4 G T 11: 30,756,310 (GRCm39) W272L probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Rhobtb1 A C 10: 69,108,601 (GRCm39) S434R probably benign Het
Rhobtb1 G C 10: 69,108,602 (GRCm39) S434T possibly damaging Het
Rnf8 T C 17: 29,853,735 (GRCm39) F413S probably damaging Het
Rpn2 A G 2: 157,156,888 (GRCm39) N497S probably damaging Het
Rsbn1l G T 5: 21,156,488 (GRCm39) P99Q probably benign Het
Serpinb3b A T 1: 107,083,164 (GRCm39) M246K probably benign Het
Sgsm2 T C 11: 74,787,652 (GRCm39) E19G probably null Het
Shank1 A G 7: 43,969,161 (GRCm39) H352R unknown Het
Slc17a7 A G 7: 44,819,728 (GRCm39) I177V probably benign Het
Slc28a2 T A 2: 122,281,494 (GRCm39) F228I probably damaging Het
Slc35b4 C T 6: 34,147,484 (GRCm39) V35I probably benign Het
Slc38a1 T C 15: 96,476,641 (GRCm39) I407V probably damaging Het
Slc39a13 A G 2: 90,893,442 (GRCm39) V326A probably damaging Het
Slc44a5 T C 3: 153,944,743 (GRCm39) L120P probably damaging Het
Slfn3 T C 11: 83,104,140 (GRCm39) I214T probably damaging Het
Slitrk3 A C 3: 72,957,024 (GRCm39) S583A probably benign Het
Snx14 T C 9: 88,297,728 (GRCm39) Y180C probably damaging Het
Sorl1 T A 9: 41,907,538 (GRCm39) K1483I probably benign Het
Ssrp1 C A 2: 84,871,104 (GRCm39) H247N probably damaging Het
Stk39 A T 2: 68,137,460 (GRCm39) probably benign Het
Syde1 C T 10: 78,421,530 (GRCm39) G674R probably damaging Het
Tent4a A T 13: 69,651,170 (GRCm39) I565N probably benign Het
Themis3 G A 17: 66,862,848 (GRCm39) S370L probably benign Het
Tll1 T A 8: 64,554,907 (GRCm39) N259Y probably damaging Het
Tnip2 T G 5: 34,661,175 (GRCm39) probably benign Het
Top2b T C 14: 16,409,823 (GRCm38) V830A probably benign Het
Trpm8 T A 1: 88,292,802 (GRCm39) N934K probably damaging Het
Ttc14 A G 3: 33,857,069 (GRCm39) Y179C probably damaging Het
Ttn T G 2: 76,573,965 (GRCm39) I17316L possibly damaging Het
Tufm T C 7: 126,086,871 (GRCm39) V52A probably benign Het
Vamp8 T A 6: 72,365,270 (GRCm39) N20I probably benign Het
Vmn1r170 A T 7: 23,306,288 (GRCm39) H230L probably benign Het
Vmn2r50 T G 7: 9,771,731 (GRCm39) T657P probably damaging Het
Xirp2 G A 2: 67,342,762 (GRCm39) G1668R probably benign Het
Zik1 C A 7: 10,224,311 (GRCm39) R262L possibly damaging Het
Zscan25 T G 5: 145,220,501 (GRCm39) Y99D 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
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
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'- GCCAGAAAAGGTTGCTGATGCTCTC -3'
(R):5'- ACCCTCTGTAAGGGTCACAGTCAC -3'

Sequencing Primer
(F):5'- GGAGGACTCTGAAGACCTTTAC -3'
(R):5'- AGCTTGAAAATGTTCTGGCCC -3'
Posted On 2014-05-14