Incidental Mutation 'R8347:Col23a1'
ID 645316
Institutional Source Beutler Lab
Gene Symbol Col23a1
Ensembl Gene ENSMUSG00000063564
Gene Name collagen, type XXIII, alpha 1
Synonyms 2810458L13Rik
MMRRC Submission 067867-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R8347 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 51180747-51474745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 51462083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 373 (G373D)
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: G373D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564
AA Change: G373D

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
SMART Domains Protein: ENSMUSP00000119825
Gene: ENSMUSG00000063564

DomainStartEndE-ValueType
Pfam:Collagen 1 54 2.9e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T A 5: 138,561,153 (GRCm39) I170L probably benign Het
Adamts15 C T 9: 30,813,846 (GRCm39) R773Q probably benign Het
Ankib1 A G 5: 3,797,065 (GRCm39) L249P probably damaging Het
Cabin1 A G 10: 75,578,201 (GRCm39) F499L probably damaging Het
Cdhr17 G A 5: 17,006,572 (GRCm39) M96I probably benign Het
Clec12b C T 6: 129,357,450 (GRCm39) probably null Het
Cse1l C T 2: 166,769,505 (GRCm39) T304I possibly damaging Het
D6Wsu163e T A 6: 126,932,251 (GRCm39) L330* probably null Het
Dbi A C 1: 120,048,550 (GRCm39) L32R possibly damaging Het
Dennd2c A G 3: 103,065,025 (GRCm39) Y716C probably damaging Het
Dnah5 G A 15: 28,236,812 (GRCm39) M379I possibly damaging Het
Dpys T C 15: 39,720,709 (GRCm39) D17G probably benign Het
Dync2h1 C T 9: 7,116,578 (GRCm39) S2319N possibly damaging Het
Dyrk2 T C 10: 118,695,888 (GRCm39) K457E probably damaging Het
Efs A G 14: 55,157,241 (GRCm39) C357R probably benign Het
Egfr T A 11: 16,828,174 (GRCm39) W516R probably damaging Het
Folh1 T A 7: 86,378,326 (GRCm39) R529* probably null Het
Fsip2 A C 2: 82,818,198 (GRCm39) I4644L probably benign Het
Garnl3 T C 2: 32,975,903 (GRCm39) Y66C probably damaging Het
Gli3 T C 13: 15,898,110 (GRCm39) L730P probably damaging Het
Gm19668 T C 10: 77,634,221 (GRCm39) *249W probably null Het
Ighv2-6-8 T C 12: 113,759,947 (GRCm39) D54G probably benign Het
Irs2 C A 8: 11,058,000 (GRCm39) S144I possibly damaging Het
Itgb5 T C 16: 33,761,048 (GRCm39) C628R probably damaging Het
Kcnh4 A T 11: 100,648,575 (GRCm39) V43D probably damaging Het
Krtap16-3 A T 16: 88,759,507 (GRCm39) Y69N unknown Het
Lcn12 A C 2: 25,382,045 (GRCm39) D176E possibly damaging Het
Lilrb4b T A 10: 51,357,850 (GRCm39) F181L probably damaging Het
Med13l T A 5: 118,880,662 (GRCm39) H1251Q probably benign Het
Nppb C A 4: 148,070,756 (GRCm39) L44M probably damaging Het
Nutm2 T C 13: 50,626,373 (GRCm39) V320A probably benign Het
Or4b1b A T 2: 90,112,020 (GRCm39) W300R probably benign Het
Or52a24 A G 7: 103,381,150 (GRCm39) S6G probably benign Het
Or5ae2 C T 7: 84,505,963 (GRCm39) P131S probably damaging Het
Or5ak4 T A 2: 85,162,047 (GRCm39) H65L probably damaging Het
Padi6 T C 4: 140,462,719 (GRCm39) M301V probably benign Het
Pappa G A 4: 65,245,302 (GRCm39) R1530Q probably damaging Het
Pcgf6 C T 19: 47,034,277 (GRCm39) D255N possibly damaging Het
Pgap3 TCAGCAGCAGCAGCAGCAG TCAGCAGCAGCAGCAG 11: 98,281,575 (GRCm39) probably benign Het
Phip A G 9: 82,790,816 (GRCm39) I710T probably benign Het
Pla2r1 A T 2: 60,365,247 (GRCm39) Y108N probably damaging Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Rint1 C G 5: 24,016,770 (GRCm39) L512V probably damaging Het
Sdad1 A C 5: 92,446,088 (GRCm39) F282L probably benign Het
Sirt5 G T 13: 43,533,977 (GRCm39) A189S probably benign Het
Slc14a1 T C 18: 78,154,646 (GRCm39) T247A probably benign Het
Slc22a6 C G 19: 8,599,169 (GRCm39) R267G probably damaging Het
Slfn3 A G 11: 83,104,415 (GRCm39) K429E possibly damaging Het
Spag17 T C 3: 99,934,957 (GRCm39) F721S probably benign Het
Spata31d1e T A 13: 59,890,050 (GRCm39) D590V possibly damaging Het
St3gal1 G A 15: 66,985,511 (GRCm39) R48C probably damaging Het
Sult2a6 A G 7: 13,959,883 (GRCm39) Y217H probably benign Het
Synj2 A G 17: 6,060,060 (GRCm39) N394S probably damaging Het
Telo2 A T 17: 25,323,611 (GRCm39) Y605* probably null Het
Trank1 T A 9: 111,196,317 (GRCm39) L1447Q probably damaging Het
Trim56 A G 5: 137,141,446 (GRCm39) L690P probably damaging Het
Trmt13 T C 3: 116,376,417 (GRCm39) T325A probably benign Het
Ttn T A 2: 76,539,811 (GRCm39) T34392S probably benign Het
Uncx A G 5: 139,532,571 (GRCm39) E212G probably damaging Het
Ush2a A G 1: 188,679,281 (GRCm39) T4830A probably benign Het
Usp34 C A 11: 23,362,345 (GRCm39) T1616N Het
Vars1 C T 17: 35,234,953 (GRCm39) L1261F possibly damaging Het
Vmn1r223 T C 13: 23,434,020 (GRCm39) S205P probably damaging Het
Vmn2r118 A T 17: 55,917,423 (GRCm39) I363K possibly damaging Het
Vmn2r69 A T 7: 85,064,838 (GRCm39) M16K probably benign Het
Wdr62 G A 7: 29,962,128 (GRCm39) T428I possibly damaging Het
Yeats4 A T 10: 117,053,374 (GRCm39) L129Q probably benign Het
Zfp423 T C 8: 88,509,784 (GRCm39) R187G probably damaging Het
Zfp853 A T 5: 143,274,702 (GRCm39) L321Q unknown 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
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
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'- TAGGACAGGTTTGAGCTGCC -3'
(R):5'- CAACTGAGTGGTTTCTGCTAGG -3'

Sequencing Primer
(F):5'- CTGTGTGGTCAGACCTGTGAAG -3'
(R):5'- CATTTAGGTGAGGACCCT -3'
Posted On 2020-09-02