Incidental Mutation 'IGL03237:Col23a1'
ID414100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col23a1
Ensembl Gene ENSMUSG00000063564
Gene Namecollagen, type XXIII, alpha 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL03237
Quality Score
Status
Chromosome11
Chromosomal Location51289920-51583918 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 51567919 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 294 (E294D)
Ref Sequence ENSEMBL: ENSMUSP00000099826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102765]
Predicted Effect possibly damaging
Transcript: ENSMUST00000102765
AA Change: E294D

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099826
Gene: ENSMUSG00000063564
AA Change: E294D

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
Adrb1 A T 19: 56,723,368 N333Y probably damaging Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Cyp11b2 C T 15: 74,851,065 V495I probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Gabrg3 A T 7: 56,982,712 probably null Het
Hsd17b11 A G 5: 104,003,170 *233Q probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Olr1 A C 6: 129,502,154 W34G probably damaging Het
Plekhf1 A T 7: 38,221,375 N256K probably benign Het
Psen2 T C 1: 180,240,849 T80A possibly damaging Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Sgcz A T 8: 37,563,178 D170E probably benign Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tmem165 T A 5: 76,199,509 Y5* probably null Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign 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
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
Posted On2016-08-02