Incidental Mutation 'IGL02552:Col24a1'
ID298155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col24a1
Ensembl Gene ENSMUSG00000028197
Gene Namecollagen, type XXIV, alpha 1
Synonyms5430404K19Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02552
Quality Score
Status
Chromosome3
Chromosomal Location145292472-145552011 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 145474207 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 1151 (S1151R)
Ref Sequence ENSEMBL: ENSMUSP00000029848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029848]
Predicted Effect possibly damaging
Transcript: ENSMUST00000029848
AA Change: S1151R

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029848
Gene: ENSMUSG00000028197
AA Change: S1151R

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,414,496 L178S probably damaging Het
2010005H15Rik A G 16: 36,253,089 E15G probably damaging Het
9130409I23Rik T A 1: 181,054,898 V75E possibly damaging Het
Abca12 A G 1: 71,294,747 Y1199H probably damaging Het
Abcc9 T C 6: 142,605,919 D1221G possibly damaging Het
Apc T A 18: 34,312,982 M977K possibly damaging Het
Arhgap30 T A 1: 171,407,756 L566Q probably damaging Het
Arhgap40 T A 2: 158,546,801 W552R probably benign Het
Astn1 C T 1: 158,505,395 S349F possibly damaging Het
Bard1 T C 1: 71,065,656 probably benign Het
Batf2 T A 19: 6,171,507 Y116N probably benign Het
Cbx6 T C 15: 79,828,893 H111R probably damaging Het
Cd44 T A 2: 102,848,731 N242I probably benign Het
Cdnf C T 2: 3,523,975 Q184* probably null Het
Chd2 C A 7: 73,447,320 probably benign Het
Cmtm6 G A 9: 114,737,306 V88M probably damaging Het
Dnajc2 T C 5: 21,783,063 D6G probably damaging Het
Eif3a G A 19: 60,763,226 probably benign Het
Fbn1 C A 2: 125,412,713 C210F possibly damaging Het
Fmn2 T A 1: 174,695,720 D1380E probably damaging Het
Fry A T 5: 150,380,910 K588N probably damaging Het
Gm18856 G A 13: 13,965,220 probably benign Het
Gpr37 G T 6: 25,688,687 T137K probably benign Het
Gzmc T C 14: 56,234,582 M1V probably null Het
Htr5a T C 5: 27,842,960 V171A probably benign Het
Ints6l T C X: 56,455,197 probably benign Het
Kcnma1 C T 14: 23,386,259 probably null Het
Krt35 C T 11: 100,093,073 G367D probably benign Het
Nlrp1b C T 11: 71,182,052 V322I possibly damaging Het
Nlrp1b C T 11: 71,172,231 V668I possibly damaging Het
Ntf3 T C 6: 126,101,860 N228D probably damaging Het
Nup133 G A 8: 123,929,255 R496W possibly damaging Het
Olfr1258 T C 2: 89,930,559 V250A probably benign Het
Olfr640 C A 7: 104,022,256 G21W probably damaging Het
Pah C T 10: 87,578,845 probably benign Het
Pan2 G T 10: 128,319,027 W1112L probably damaging Het
Pkn3 G A 2: 30,080,867 R209Q probably damaging Het
Plaa C T 4: 94,582,480 probably null Het
Qprt C T 7: 127,108,855 A135T probably damaging Het
Rbbp6 T G 7: 122,982,981 S108A probably damaging Het
Smg1 T A 7: 118,195,894 probably benign Het
Spink5 T A 18: 43,992,168 C368S possibly damaging Het
Sptan1 T A 2: 30,018,474 I1734N probably damaging Het
Stk38l C T 6: 146,767,533 L170F probably damaging Het
Tesmin C T 19: 3,402,483 probably benign Het
Tjp1 A T 7: 65,299,782 C1697* probably null Het
Tmco4 T C 4: 139,058,379 S587P probably benign Het
Tmem208 G A 8: 105,328,697 probably null Het
Trim30d T C 7: 104,472,416 Q224R probably damaging Het
Trpm7 T A 2: 126,840,779 D390V probably damaging Het
Uba7 A G 9: 107,981,390 I807V probably benign Het
Uhrf1bp1l T A 10: 89,806,743 L10* probably null Het
Utp18 C A 11: 93,868,334 C438F probably damaging Het
Vps13d T C 4: 145,173,137 K191E possibly damaging Het
Wdr27 A G 17: 14,926,191 S181P probably damaging Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Col24a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Col24a1 APN 3 145362309 missense probably damaging 1.00
IGL00931:Col24a1 APN 3 145461470 missense probably benign 0.00
IGL01160:Col24a1 APN 3 145507713 missense probably damaging 1.00
IGL01355:Col24a1 APN 3 145314876 missense probably benign 0.07
IGL01409:Col24a1 APN 3 145538564 missense probably benign 0.19
IGL01587:Col24a1 APN 3 145433355 splice site probably null
IGL01666:Col24a1 APN 3 145344686 missense possibly damaging 0.93
IGL01717:Col24a1 APN 3 145524263 splice site probably benign
IGL01721:Col24a1 APN 3 145538567 missense probably benign 0.26
IGL01939:Col24a1 APN 3 145315244 missense probably damaging 1.00
IGL01988:Col24a1 APN 3 145524167 splice site probably null
IGL02002:Col24a1 APN 3 145356944 missense possibly damaging 0.81
IGL02172:Col24a1 APN 3 145314962 missense probably benign 0.34
IGL02559:Col24a1 APN 3 145314173 missense probably benign
IGL02582:Col24a1 APN 3 145314486 missense probably damaging 1.00
IGL02652:Col24a1 APN 3 145492301 nonsense probably null
IGL02942:Col24a1 APN 3 145541665 missense probably damaging 1.00
IGL03032:Col24a1 APN 3 145538703 critical splice donor site probably null
IGL03108:Col24a1 APN 3 145323401 missense probably damaging 1.00
IGL03310:Col24a1 APN 3 145313983 splice site probably benign
IGL03405:Col24a1 APN 3 145315157 missense possibly damaging 0.73
R0066:Col24a1 UTSW 3 145545144 missense probably damaging 1.00
R0066:Col24a1 UTSW 3 145545144 missense probably damaging 1.00
R0379:Col24a1 UTSW 3 145524142 missense possibly damaging 0.94
R0502:Col24a1 UTSW 3 145545316 splice site probably benign
R0556:Col24a1 UTSW 3 145314728 missense possibly damaging 0.53
R0587:Col24a1 UTSW 3 145293145 missense possibly damaging 0.50
R0617:Col24a1 UTSW 3 145314120 missense probably damaging 1.00
R0831:Col24a1 UTSW 3 145328759 missense probably damaging 1.00
R1455:Col24a1 UTSW 3 145460838 missense probably damaging 1.00
R1664:Col24a1 UTSW 3 145389600 critical splice donor site probably null
R1713:Col24a1 UTSW 3 145366869 nonsense probably null
R1854:Col24a1 UTSW 3 145459140 missense probably damaging 1.00
R1855:Col24a1 UTSW 3 145459140 missense probably damaging 1.00
R1861:Col24a1 UTSW 3 145537267 critical splice donor site probably null
R1969:Col24a1 UTSW 3 145314930 missense probably benign 0.03
R2216:Col24a1 UTSW 3 145314981 missense probably benign 0.34
R2290:Col24a1 UTSW 3 145513195 missense probably damaging 1.00
R3702:Col24a1 UTSW 3 145337860 missense probably benign 0.01
R3772:Col24a1 UTSW 3 145545286 missense probably damaging 1.00
R4086:Col24a1 UTSW 3 145461437 missense probably damaging 1.00
R4236:Col24a1 UTSW 3 145524282 nonsense probably null
R4433:Col24a1 UTSW 3 145314383 missense possibly damaging 0.95
R4688:Col24a1 UTSW 3 145314383 missense probably benign 0.00
R4972:Col24a1 UTSW 3 145509684 missense probably benign 0.42
R5157:Col24a1 UTSW 3 145345951 nonsense probably null
R5216:Col24a1 UTSW 3 145315310 missense possibly damaging 0.85
R5274:Col24a1 UTSW 3 145484678 missense probably benign 0.03
R5334:Col24a1 UTSW 3 145461525 missense possibly damaging 0.91
R5416:Col24a1 UTSW 3 145315025 nonsense probably null
R5473:Col24a1 UTSW 3 145537261 missense probably benign 0.41
R5538:Col24a1 UTSW 3 145293121 missense probably damaging 0.99
R5561:Col24a1 UTSW 3 145298827 missense probably benign 0.26
R5648:Col24a1 UTSW 3 145358566 missense probably benign 0.00
R5920:Col24a1 UTSW 3 145428230 missense probably damaging 1.00
R6111:Col24a1 UTSW 3 145314054 missense probably damaging 0.99
R6151:Col24a1 UTSW 3 145314054 missense probably damaging 0.99
R6701:Col24a1 UTSW 3 145314380 missense probably benign 0.00
R6728:Col24a1 UTSW 3 145315196 missense probably benign
R6734:Col24a1 UTSW 3 145508674 missense probably benign 0.06
R6861:Col24a1 UTSW 3 145460834 missense probably damaging 1.00
R6982:Col24a1 UTSW 3 145315046 nonsense probably null
R7001:Col24a1 UTSW 3 145298866 missense probably benign 0.28
R7148:Col24a1 UTSW 3 145315299 missense probably damaging 1.00
R7293:Col24a1 UTSW 3 145486304 nonsense probably null
R7315:Col24a1 UTSW 3 145431870 missense possibly damaging 0.82
R7358:Col24a1 UTSW 3 145293165 critical splice donor site probably null
R7371:Col24a1 UTSW 3 145343698 missense probably benign 0.06
R7383:Col24a1 UTSW 3 145298838 missense probably benign
R7605:Col24a1 UTSW 3 145538687 missense possibly damaging 0.67
R7650:Col24a1 UTSW 3 145314453 missense probably benign 0.00
R7679:Col24a1 UTSW 3 145399355 missense possibly damaging 0.81
R7701:Col24a1 UTSW 3 145315011 missense probably benign
R7701:Col24a1 UTSW 3 145366901 splice site probably null
R7805:Col24a1 UTSW 3 145314140 missense probably benign 0.02
R7913:Col24a1 UTSW 3 145431866 nonsense probably null
R7994:Col24a1 UTSW 3 145431866 nonsense probably null
R8056:Col24a1 UTSW 3 145314164 missense possibly damaging 0.73
R8240:Col24a1 UTSW 3 145507702 missense probably benign 0.31
R8294:Col24a1 UTSW 3 145481089 missense probably null 1.00
R8305:Col24a1 UTSW 3 145474182 missense probably benign 0.00
Z1176:Col24a1 UTSW 3 145342498 missense probably damaging 1.00
Z1177:Col24a1 UTSW 3 145342499 missense probably damaging 1.00
Posted On2015-04-16