Incidental Mutation 'R8347:Col23a1'
ID 645316
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: 0.056) question?
Stock # R8347 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 51289920-51583918 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 51571256 bp (GRCm38)
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
1700014D04Rik T A 13: 59,742,236 D590V possibly damaging Het
1700123K08Rik T A 5: 138,562,891 I170L probably benign Het
Adamts15 C T 9: 30,902,550 R773Q probably benign Het
Ankib1 A G 5: 3,747,065 L249P probably damaging Het
Cabin1 A G 10: 75,742,367 F499L probably damaging Het
Clec12b C T 6: 129,380,487 probably null Het
Cse1l C T 2: 166,927,585 T304I possibly damaging Het
D6Wsu163e T A 6: 126,955,288 L330* probably null Het
Dbi A C 1: 120,120,820 L32R possibly damaging Het
Dennd2c A G 3: 103,157,709 Y716C probably damaging Het
Dnah5 G A 15: 28,236,666 M379I possibly damaging Het
Dpys T C 15: 39,857,313 D17G probably benign Het
Dync2h1 C T 9: 7,116,578 S2319N possibly damaging Het
Dyrk2 T C 10: 118,859,983 K457E probably damaging Het
Efs A G 14: 54,919,784 C357R probably benign Het
Egfr T A 11: 16,878,174 W516R probably damaging Het
Folh1 T A 7: 86,729,118 R529* probably null Het
Fsip2 A C 2: 82,987,854 I4644L probably benign Het
Garnl3 T C 2: 33,085,891 Y66C probably damaging Het
Gli3 T C 13: 15,723,525 L730P probably damaging Het
Gm19668 T C 10: 77,798,387 *249W probably null Het
Gm28710 G A 5: 16,801,574 M96I probably benign Het
Ighv2-6-8 T C 12: 113,796,327 D54G probably benign Het
Irs2 C A 8: 11,008,000 S144I possibly damaging Het
Itgb5 T C 16: 33,940,678 C628R probably damaging Het
Kcnh4 A T 11: 100,757,749 V43D probably damaging Het
Krtap16-3 A T 16: 88,962,619 Y69N unknown Het
Lcn12 A C 2: 25,492,033 D176E possibly damaging Het
Lilr4b T A 10: 51,481,754 F181L probably damaging Het
Med13l T A 5: 118,742,597 H1251Q probably benign Het
Nppb C A 4: 147,986,299 L44M probably damaging Het
Nutm2 T C 13: 50,472,337 V320A probably benign Het
Olfr1272 A T 2: 90,281,676 W300R probably benign Het
Olfr291 C T 7: 84,856,755 P131S probably damaging Het
Olfr628 A G 7: 103,731,943 S6G probably benign Het
Olfr987 T A 2: 85,331,703 H65L probably damaging Het
Padi6 T C 4: 140,735,408 M301V probably benign Het
Pappa G A 4: 65,327,065 R1530Q probably damaging Het
Pcgf6 C T 19: 47,045,838 D255N possibly damaging Het
Pgap3 TCAGCAGCAGCAGCAGCAG TCAGCAGCAGCAGCAG 11: 98,390,749 probably benign Het
Phip A G 9: 82,908,763 I710T probably benign Het
Pla2r1 A T 2: 60,534,903 Y108N probably damaging Het
Plat G T 8: 22,772,232 G91W probably damaging Het
Rint1 C G 5: 23,811,772 L512V probably damaging Het
Sdad1 A C 5: 92,298,229 F282L probably benign Het
Sirt5 G T 13: 43,380,501 A189S probably benign Het
Slc14a1 T C 18: 78,111,431 T247A probably benign Het
Slc22a6 C G 19: 8,621,805 R267G probably damaging Het
Slfn3 A G 11: 83,213,589 K429E possibly damaging Het
Spag17 T C 3: 100,027,641 F721S probably benign Het
St3gal1 G A 15: 67,113,662 R48C probably damaging Het
Sult2a6 A G 7: 14,225,958 Y217H probably benign Het
Synj2 A G 17: 6,009,785 N394S probably damaging Het
Telo2 A T 17: 25,104,637 Y605* probably null Het
Trank1 T A 9: 111,367,249 L1447Q probably damaging Het
Trim56 A G 5: 137,112,592 L690P probably damaging Het
Trmt13 T C 3: 116,582,768 T325A probably benign Het
Ttn T A 2: 76,709,467 T34392S probably benign Het
Uncx A G 5: 139,546,816 E212G probably damaging Het
Ush2a A G 1: 188,947,084 T4830A probably benign Het
Usp34 C A 11: 23,412,345 T1616N Het
Vars C T 17: 35,015,977 L1261F possibly damaging Het
Vmn1r223 T C 13: 23,249,850 S205P probably damaging Het
Vmn2r118 A T 17: 55,610,423 I363K possibly damaging Het
Vmn2r69 A T 7: 85,415,630 M16K probably benign Het
Wdr62 G A 7: 30,262,703 T428I possibly damaging Het
Yeats4 A T 10: 117,217,469 L129Q probably benign Het
Zfp423 T C 8: 87,783,156 R187G probably damaging Het
Zfp853 A T 5: 143,288,947 L321Q unknown 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
R6945:Col23a1 UTSW 11 51561893 missense unknown
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
R8681:Col23a1 UTSW 11 51567929 missense possibly damaging 0.88
R9480:Col23a1 UTSW 11 51316947 missense unknown
Z1176:Col23a1 UTSW 11 51549708 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