Incidental Mutation 'R6945:Col23a1'
ID 540848
Institutional Source Beutler Lab
Gene Symbol Col23a1
Ensembl Gene ENSMUSG00000063564
Gene Name collagen, type XXIII, alpha 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6945 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 51289920-51583918 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51561893 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 225 (E225G)
Ref Sequence ENSEMBL: ENSMUSP00000099826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102765]
AlphaFold Q8K4G2
Predicted Effect unknown
Transcript: ENSMUST00000102765
AA Change: E225G
SMART Domains Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564
AA Change: E225G

DomainStartEndE-ValueType
low complexity region 2 50 N/A INTRINSIC
Pfam:Collagen 107 162 3.7e-10 PFAM
Pfam:Collagen 140 207 1.3e-9 PFAM
low complexity region 212 237 N/A INTRINSIC
Pfam:Collagen 239 299 1.8e-11 PFAM
Pfam:Collagen 309 367 1.8e-10 PFAM
Pfam:Collagen 331 390 6.6e-11 PFAM
Pfam:Collagen 402 463 2.4e-11 PFAM
Pfam:Collagen 455 523 3.7e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency 96% (51/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik A C 5: 109,676,845 N246K probably benign Het
AA792892 C T 5: 94,383,631 H125Y possibly damaging Het
Abcc5 T A 16: 20,400,009 T208S probably benign Het
Acaa2 A G 18: 74,793,309 E112G probably benign Het
Adgrb1 A G 15: 74,550,024 N881S probably damaging Het
Adgre1 A G 17: 57,410,844 E314G probably benign Het
Adgre1 A G 17: 57,420,399 E443G probably benign Het
Akp3 A G 1: 87,125,631 Y102C probably damaging Het
Birc6 A G 17: 74,579,531 N618S probably benign Het
Bpifc A G 10: 85,979,214 V296A probably benign Het
Cacna2d3 G A 14: 28,969,318 probably benign Het
Cacnb4 T C 2: 52,474,954 N99S probably damaging Het
Cd38 A G 5: 43,908,006 Y283C probably damaging Het
Celf4 T A 18: 25,496,236 Q411L probably damaging Het
Cemip A T 7: 83,998,547 H108Q probably damaging Het
Dnah11 T C 12: 118,060,310 E1902G probably damaging Het
Dst A G 1: 34,190,490 D2063G probably damaging Het
Fsip2 A T 2: 82,992,840 I6306L probably benign Het
Furin A G 7: 80,391,090 S667P possibly damaging Het
Glmp T A 3: 88,325,832 S92R probably benign Het
Gm11563 C G 11: 99,658,472 C152S unknown Het
Gm3486 A G 14: 41,484,561 V185A probably benign Het
Gm4070 G A 7: 105,901,980 Q622* probably null Het
Hyal1 C A 9: 107,579,170 A102E probably damaging Het
Invs T C 4: 48,421,785 C806R probably benign Het
L1td1 T C 4: 98,733,696 V165A probably benign Het
Lama1 A G 17: 67,813,866 T2666A Het
Lrit1 G C 14: 37,060,095 V242L probably damaging Het
Lrrc8a A G 2: 30,256,227 Y351C probably damaging Het
Myh7b T C 2: 155,622,232 F551S possibly damaging Het
Myo19 A G 11: 84,897,560 T333A probably benign Het
Nrp2 A T 1: 62,760,788 N387I probably damaging Het
Oas2 T C 5: 120,736,139 D543G probably benign Het
Olfr1040 A G 2: 86,146,084 S217P probably damaging Het
Olfr117 A G 17: 37,659,514 I273T possibly damaging Het
Pak7 A G 2: 136,100,939 V427A probably benign Het
Pfas G A 11: 69,000,530 A247V probably benign Het
Psat1 T A 19: 15,917,181 T115S probably benign Het
Psme4 T A 11: 30,837,437 D1077E probably benign Het
Rabgap1l A G 1: 160,682,182 S442P probably benign Het
Ralgapa1 A G 12: 55,776,191 M280T possibly damaging Het
Rb1cc1 A T 1: 6,261,032 E394D probably damaging Het
Seh1l T C 18: 67,789,390 V271A probably benign Het
Sf3b1 A T 1: 54,997,156 N919K probably benign Het
Sftpd A G 14: 41,174,492 S245P possibly damaging Het
Slc22a15 T C 3: 101,924,114 E2G probably damaging Het
Spta1 A G 1: 174,209,325 D1134G possibly damaging Het
Syna A G 5: 134,558,961 V378A probably damaging Het
Tchp A G 5: 114,709,350 K77E possibly damaging Het
Tescl T C 7: 24,333,531 N123S probably benign Het
Trio C T 15: 27,824,090 R1443Q probably damaging Het
Trrap A T 5: 144,790,855 Y462F possibly damaging Het
Vmn1r78 A G 7: 12,152,905 T148A probably benign Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Other mutations in Col23a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02797:Col23a1 APN 11 51561916 critical splice donor site probably null
IGL02997:Col23a1 APN 11 51577152 missense probably damaging 1.00
IGL03237:Col23a1 APN 11 51567919 missense possibly damaging 0.77
IGL03493:Col23a1 APN 11 51564805 critical splice donor site probably null
R0755:Col23a1 UTSW 11 51576879 missense probably damaging 1.00
R1523:Col23a1 UTSW 11 51561916 critical splice donor site probably null
R1721:Col23a1 UTSW 11 51527889 missense unknown
R1939:Col23a1 UTSW 11 51551989 missense unknown
R2032:Col23a1 UTSW 11 51560008 missense unknown
R2139:Col23a1 UTSW 11 51574034 missense probably benign 0.03
R4829:Col23a1 UTSW 11 51557586 missense unknown
R5536:Col23a1 UTSW 11 51567949 missense probably damaging 1.00
R6253:Col23a1 UTSW 11 51574168 missense probably damaging 1.00
R6520:Col23a1 UTSW 11 51549725 splice site probably null
R7145:Col23a1 UTSW 11 51565223 critical splice donor site probably null
R7863:Col23a1 UTSW 11 51572770 missense probably damaging 1.00
R8103:Col23a1 UTSW 11 51570187 splice site probably null
R8347:Col23a1 UTSW 11 51571256 missense probably damaging 1.00
R8681:Col23a1 UTSW 11 51567929 missense possibly damaging 0.88
Z1176:Col23a1 UTSW 11 51549708 missense unknown
Predicted Primers PCR Primer
(F):5'- CTGACTGATTCCCCATGCAC -3'
(R):5'- CTCTGAAGGGAACATGGACATG -3'

Sequencing Primer
(F):5'- CCCATGCACTCGTGTGTGTG -3'
(R):5'- AACATGGACATGAGGAAGGG -3'
Posted On 2018-11-28