Incidental Mutation 'R7145:Col23a1'
ID 553728
Institutional Source Beutler Lab
Gene Symbol Col23a1
Ensembl Gene ENSMUSG00000063564
Gene Name collagen, type XXIII, alpha 1
Synonyms 2810458L13Rik
MMRRC Submission 045223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R7145 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 51180747-51474745 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 51456050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102765]
AlphaFold Q8K4G2
Predicted Effect probably null
Transcript: ENSMUST00000102765
SMART Domains Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564

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: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,820 (GRCm39) Y1670H probably damaging Het
Abca12 T C 1: 71,346,212 (GRCm39) K886R possibly damaging Het
Adcy3 G A 12: 4,250,992 (GRCm39) E584K probably benign Het
Ano3 A T 2: 110,693,205 (GRCm39) V131D probably benign Het
Arhgdig C T 17: 26,418,337 (GRCm39) W215* probably null Het
Cad G T 5: 31,224,956 (GRCm39) W953L possibly damaging Het
Calhm2 T C 19: 47,124,080 (GRCm39) Y88C probably benign Het
Cdk5rap2 A T 4: 70,156,468 (GRCm39) D1681E probably benign Het
Cenpl T A 1: 160,910,482 (GRCm39) L143H possibly damaging Het
Cherp T C 8: 73,222,230 (GRCm39) K270E Het
Cmss1 A G 16: 57,131,718 (GRCm39) I136T probably benign Het
Crnn C A 3: 93,055,689 (GRCm39) D158E probably damaging Het
Dnmt3a A T 12: 3,922,844 (GRCm39) Q149L probably benign Het
Dst T A 1: 34,228,963 (GRCm39) N2185K probably benign Het
Eif1ad18 G T 12: 88,050,597 (GRCm39) C44F probably benign Het
Elp2 T A 18: 24,737,126 (GRCm39) N25K probably benign Het
Ephb4 A T 5: 137,370,308 (GRCm39) D845V probably damaging Het
Esyt3 T C 9: 99,201,627 (GRCm39) T561A probably damaging Het
F3 G T 3: 121,525,235 (GRCm39) V159L probably damaging Het
Fam81a A T 9: 70,017,560 (GRCm39) D128E probably damaging Het
Flot1 T G 17: 36,135,835 (GRCm39) H155Q probably benign Het
Fut9 T A 4: 25,620,507 (GRCm39) K102N probably damaging Het
Gm6309 T C 5: 146,107,100 (GRCm39) Q82R possibly damaging Het
H13 A G 2: 152,522,992 (GRCm39) N102D probably damaging Het
Lamc2 C G 1: 153,006,518 (GRCm39) A878P possibly damaging Het
Lepr C T 4: 101,609,394 (GRCm39) T327I probably benign Het
Lrp2 A G 2: 69,285,152 (GRCm39) probably null Het
Ly86 A G 13: 37,560,986 (GRCm39) K116E probably damaging Het
Mapk8ip2 T A 15: 89,343,201 (GRCm39) F648I possibly damaging Het
Muc16 G A 9: 18,566,876 (GRCm39) T1881I unknown Het
Myh13 T G 11: 67,245,566 (GRCm39) S1069A probably benign Het
Myh4 T A 11: 67,151,054 (GRCm39) I1903N possibly damaging Het
Myo18b A T 5: 112,965,545 (GRCm39) L1341* probably null Het
Naa25 G T 5: 121,555,552 (GRCm39) probably null Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ncapg C T 5: 45,827,372 (GRCm39) A3V possibly damaging Het
Ncln T C 10: 81,324,086 (GRCm39) H481R probably benign Het
Nek4 C A 14: 30,704,305 (GRCm39) Q607K probably damaging Het
Neo1 T C 9: 58,796,462 (GRCm39) Y1182C probably damaging Het
Npnt T C 3: 132,615,692 (GRCm39) N165S probably benign Het
Or2l5 C G 16: 19,333,649 (GRCm39) V246L probably damaging Het
Or4p22 C T 2: 88,317,721 (GRCm39) S215L probably damaging Het
Or8b8 A G 9: 37,808,859 (GRCm39) H53R probably benign Het
Or8k30 T C 2: 86,338,872 (GRCm39) L23P probably damaging Het
Otulin T C 15: 27,608,856 (GRCm39) Y229C probably damaging Het
Palld A T 8: 61,985,051 (GRCm39) D1071E unknown Het
Pcdhb20 T C 18: 37,638,142 (GRCm39) S223P probably damaging Het
Pcdhga6 T A 18: 37,840,781 (GRCm39) I167N probably damaging Het
Pcdhgb4 A G 18: 37,854,843 (GRCm39) N413D probably benign Het
Pcdhgb8 T A 18: 37,896,050 (GRCm39) Y373* probably null Het
Plxna2 G T 1: 194,331,830 (GRCm39) V419L probably benign Het
Rpgrip1l A T 8: 91,959,434 (GRCm39) probably null Het
Rsrc2 A G 5: 123,877,630 (GRCm39) probably benign Het
Scaper C T 9: 55,819,395 (GRCm39) D107N unknown Het
Scgb2b3 T A 7: 31,059,573 (GRCm39) Y67F probably benign Het
Scn5a G A 9: 119,315,437 (GRCm39) T1757I probably damaging Het
Sgo2b G A 8: 64,381,218 (GRCm39) P538L probably damaging Het
Slc9a3 A G 13: 74,298,797 (GRCm39) K72R probably damaging Het
Smchd1 T A 17: 71,685,202 (GRCm39) T1409S probably benign Het
Stab1 A T 14: 30,867,030 (GRCm39) probably null Het
Sult2b1 T C 7: 45,383,056 (GRCm39) E242G probably damaging Het
Tcaf1 A T 6: 42,663,687 (GRCm39) H64Q probably damaging Het
Tle6 T C 10: 81,435,910 (GRCm39) T2A possibly damaging Het
Tmem115 T C 9: 107,412,285 (GRCm39) V203A probably benign Het
Tmem45b G A 9: 31,340,337 (GRCm39) T108I probably damaging Het
Tmf1 A T 6: 97,153,079 (GRCm39) D331E probably damaging Het
Txndc9 T C 1: 38,029,377 (GRCm39) Y157C probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r27 C A 6: 124,168,711 (GRCm39) R806S probably benign Het
Vmn2r59 G A 7: 41,695,188 (GRCm39) A408V probably damaging Het
Ythdc1 T C 5: 86,964,467 (GRCm39) V92A probably benign Het
Other mutations in Col23a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02797:Col23a1 APN 11 51,452,743 (GRCm39) critical splice donor site probably null
IGL02997:Col23a1 APN 11 51,467,979 (GRCm39) missense probably damaging 1.00
IGL03237:Col23a1 APN 11 51,458,746 (GRCm39) missense possibly damaging 0.77
IGL03493:Col23a1 APN 11 51,455,632 (GRCm39) critical splice donor site probably null
R0755:Col23a1 UTSW 11 51,467,706 (GRCm39) missense probably damaging 1.00
R1523:Col23a1 UTSW 11 51,452,743 (GRCm39) critical splice donor site probably null
R1721:Col23a1 UTSW 11 51,418,716 (GRCm39) missense unknown
R1939:Col23a1 UTSW 11 51,442,816 (GRCm39) missense unknown
R2032:Col23a1 UTSW 11 51,450,835 (GRCm39) missense unknown
R2139:Col23a1 UTSW 11 51,464,861 (GRCm39) missense probably benign 0.03
R4829:Col23a1 UTSW 11 51,448,413 (GRCm39) missense unknown
R5536:Col23a1 UTSW 11 51,458,776 (GRCm39) missense probably damaging 1.00
R6253:Col23a1 UTSW 11 51,464,995 (GRCm39) missense probably damaging 1.00
R6520:Col23a1 UTSW 11 51,440,552 (GRCm39) splice site probably null
R6945:Col23a1 UTSW 11 51,452,720 (GRCm39) missense unknown
R7863:Col23a1 UTSW 11 51,463,597 (GRCm39) missense probably damaging 1.00
R8103:Col23a1 UTSW 11 51,461,014 (GRCm39) splice site probably null
R8347:Col23a1 UTSW 11 51,462,083 (GRCm39) missense probably damaging 1.00
R8681:Col23a1 UTSW 11 51,458,756 (GRCm39) missense possibly damaging 0.88
R9480:Col23a1 UTSW 11 51,207,774 (GRCm39) missense unknown
Z1176:Col23a1 UTSW 11 51,440,535 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCAAAATCCCCACTGTTGCAG -3'
(R):5'- CGCTCTTCCTTAACAACAAGCTG -3'

Sequencing Primer
(F):5'- CAGTGTGTGGAAGGCTGTTC -3'
(R):5'- ATCAGATCCCATTGCAGGTG -3'
Posted On 2019-05-15