Incidental Mutation 'IGL02997:Col23a1'
ID 407169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col23a1
Ensembl Gene ENSMUSG00000063564
Gene Name collagen, type XXIII, alpha 1
Synonyms 2810458L13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02997
Quality Score
Status
Chromosome 11
Chromosomal Location 51180747-51474745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51467979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 517 (C517S)
Ref Sequence ENSEMBL: ENSMUSP00000099826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102765] [ENSMUST00000151098]
AlphaFold Q8K4G2
Predicted Effect probably damaging
Transcript: ENSMUST00000102765
AA Change: C517S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564
AA Change: C517S

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
Predicted Effect probably benign
Transcript: ENSMUST00000151098
AA Change: C54S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000119825
Gene: ENSMUSG00000063564
AA Change: C54S

DomainStartEndE-ValueType
Pfam:Collagen 1 54 2.9e-12 PFAM
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,966,359 (GRCm39) probably benign Het
Adamts15 T C 9: 30,817,353 (GRCm39) probably benign Het
Arsa T C 15: 89,358,241 (GRCm39) D356G probably damaging Het
Cmbl A G 15: 31,585,490 (GRCm39) K113E probably benign Het
Cmklr1 T C 5: 113,752,701 (GRCm39) D100G probably benign Het
Frem1 T A 4: 82,853,205 (GRCm39) L1699F probably damaging Het
Ganab A G 19: 8,892,776 (GRCm39) D900G probably benign Het
Glrp1 T C 1: 88,437,507 (GRCm39) probably benign Het
Gys2 A T 6: 142,395,195 (GRCm39) D423E probably damaging Het
H2-T9 A G 17: 36,438,728 (GRCm39) V221A possibly damaging Het
Hp C A 8: 110,302,418 (GRCm39) V177F probably damaging Het
Isoc1 T C 18: 58,804,516 (GRCm39) probably benign Het
Kif18b A G 11: 102,799,910 (GRCm39) L513P probably damaging Het
Kifc2 T C 15: 76,548,539 (GRCm39) V342A possibly damaging Het
Krt78 A T 15: 101,855,598 (GRCm39) S738T probably benign Het
Lats1 A G 10: 7,578,018 (GRCm39) N381D possibly damaging Het
Masp2 C A 4: 148,687,632 (GRCm39) probably benign Het
Mybpc1 G T 10: 88,362,235 (GRCm39) N982K probably damaging Het
Ncor2 A T 5: 125,196,634 (GRCm39) probably benign Het
Nkg7 T C 7: 43,087,291 (GRCm39) F133L probably damaging Het
Nlrp1a A T 11: 71,014,491 (GRCm39) I253N probably damaging Het
Nlrp4e G T 7: 23,000,799 (GRCm39) Q31H probably benign Het
Or4p22 A C 2: 88,317,732 (GRCm39) I219L probably damaging Het
Orc6 T A 8: 86,032,837 (GRCm39) probably benign Het
Pbrm1 C T 14: 30,783,508 (GRCm39) L542F probably damaging Het
Pcdh10 T C 3: 45,333,797 (GRCm39) I37T probably damaging Het
Pex5l C A 3: 33,009,991 (GRCm39) probably benign Het
Prl2b1 A G 13: 27,569,087 (GRCm39) probably benign Het
Rnf168 G A 16: 32,104,239 (GRCm39) E146K probably damaging Het
Rsph6a T G 7: 18,788,764 (GRCm39) L32R probably benign Het
Scaper C T 9: 55,722,783 (GRCm39) R675H probably damaging Het
Sf3a2 G A 10: 80,639,454 (GRCm39) R148H probably damaging Het
Shank2 A G 7: 143,635,610 (GRCm39) N328S probably benign Het
Smurf1 T A 5: 144,834,815 (GRCm39) R153* probably null Het
Sorcs2 C T 5: 36,225,492 (GRCm39) V126M probably damaging Het
Tamalin T C 15: 101,128,899 (GRCm39) S216P probably damaging Het
Trav7d-4 T C 14: 53,007,713 (GRCm39) S69P probably damaging Het
Trh G T 6: 92,220,115 (GRCm39) probably benign Het
Utp20 A G 10: 88,649,896 (GRCm39) V438A probably benign Het
Utp25 T C 1: 192,802,892 (GRCm39) Q275R probably benign Het
Wdfy3 T C 5: 102,042,778 (GRCm39) E1991G probably null Het
Other mutations in Col23a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02797:Col23a1 APN 11 51,452,743 (GRCm39) critical splice donor site probably null
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
R7145:Col23a1 UTSW 11 51,456,050 (GRCm39) critical splice donor site probably null
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
Posted On 2016-08-02