Incidental Mutation 'IGL01432:Cd109'
ID 84203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd109
Ensembl Gene ENSMUSG00000046186
Gene Name CD109 antigen
Synonyms Gov platelet alloantigens, 9930012E15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01432
Quality Score
Status
Chromosome 9
Chromosomal Location 78522828-78623535 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78605405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1003 (Y1003H)
Ref Sequence ENSEMBL: ENSMUSP00000091330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093812]
AlphaFold Q8R422
Predicted Effect probably benign
Transcript: ENSMUST00000093812
AA Change: Y1003H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091330
Gene: ENSMUSG00000046186
AA Change: Y1003H

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:A2M_N 129 220 1.5e-16 PFAM
A2M_N_2 470 601 8.89e-32 SMART
A2M 695 786 2.07e-32 SMART
Pfam:Thiol-ester_cl 912 941 2.6e-20 PFAM
Pfam:A2M_comp 961 1197 1.9e-65 PFAM
low complexity region 1265 1275 N/A INTRINSIC
A2M_recep 1311 1395 2.06e-27 SMART
low complexity region 1422 1437 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a null mutation display epidermal hyperplasia and thickening, sebaceous gland hyperplasia and transient impairment of hair growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh9a1 T C 1: 167,183,354 (GRCm39) S191P probably damaging Het
Aldoart2 A T 12: 55,612,566 (GRCm39) I164F probably damaging Het
Anapc1 C A 2: 128,475,328 (GRCm39) A1384S probably damaging Het
Arid5a T G 1: 36,358,514 (GRCm39) S429A possibly damaging Het
Asxl1 A G 2: 153,242,125 (GRCm39) K892E probably benign Het
Bltp1 T A 3: 37,057,908 (GRCm39) V3166E possibly damaging Het
Bpnt1 G A 1: 185,086,218 (GRCm39) W261* probably null Het
Calu A G 6: 29,356,552 (GRCm39) D26G possibly damaging Het
Ccdc113 C T 8: 96,264,885 (GRCm39) probably benign Het
Cdh9 A G 15: 16,831,033 (GRCm39) K290R probably damaging Het
Cep131 G A 11: 119,967,835 (GRCm39) A140V possibly damaging Het
Cfap251 A G 5: 123,418,015 (GRCm39) I81M possibly damaging Het
Chn1 A T 2: 73,462,096 (GRCm39) C236S probably damaging Het
Cntn4 T A 6: 106,655,295 (GRCm39) probably benign Het
Crispld1 A T 1: 17,817,025 (GRCm39) Q194L probably benign Het
Csmd3 A G 15: 47,596,895 (GRCm39) V1981A probably damaging Het
Cttn A G 7: 144,015,043 (GRCm39) I55T probably damaging Het
Ddx46 G T 13: 55,785,835 (GRCm39) probably benign Het
Diaph1 A T 18: 38,030,557 (GRCm39) I299N unknown Het
Dll1 A G 17: 15,588,768 (GRCm39) Y636H probably damaging Het
Eng A T 2: 32,559,544 (GRCm39) Q111L possibly damaging Het
Exoc6 T C 19: 37,578,324 (GRCm39) V389A possibly damaging Het
Fbxw26 T A 9: 109,547,043 (GRCm39) T461S probably benign Het
Gbf1 T C 19: 46,268,434 (GRCm39) Y1269H probably damaging Het
Gm5852 A G 3: 93,635,086 (GRCm39) Y90H possibly damaging Het
Gnrhr C T 5: 86,330,052 (GRCm39) G323R probably damaging Het
Gpr155 T A 2: 73,182,229 (GRCm39) E661D possibly damaging Het
Grik4 A T 9: 42,432,472 (GRCm39) C842S probably damaging Het
Iws1 A G 18: 32,216,519 (GRCm39) probably benign Het
Kif5c A G 2: 49,591,089 (GRCm39) T314A probably damaging Het
Klhdc1 A C 12: 69,298,751 (GRCm39) K112T probably damaging Het
Kmt2a T C 9: 44,720,393 (GRCm39) T3865A unknown Het
Lgr5 T C 10: 115,288,997 (GRCm39) K477R probably damaging Het
Ly75 A T 2: 60,206,351 (GRCm39) L106Q probably damaging Het
Mcph1 T A 8: 18,675,655 (GRCm39) M26K probably damaging Het
Mettl2 T C 11: 105,017,348 (GRCm39) V9A probably benign Het
Mgat5b A G 11: 116,864,202 (GRCm39) D456G probably benign Het
Mstn A G 1: 53,105,689 (GRCm39) T344A possibly damaging Het
Npr1 T A 3: 90,370,543 (GRCm39) I308F possibly damaging Het
Oasl1 G A 5: 115,075,466 (GRCm39) V509M probably benign Het
Obscn T C 11: 58,924,583 (GRCm39) M5727V probably benign Het
Or2d4 T C 7: 106,543,748 (GRCm39) I153M possibly damaging Het
Or4c114 T A 2: 88,904,545 (GRCm39) I297F probably benign Het
Or4k15c T A 14: 50,321,404 (GRCm39) T245S probably benign Het
Or5an1c A G 19: 12,218,891 (GRCm39) S45P probably damaging Het
Pcgf1 T C 6: 83,055,398 (GRCm39) I11T possibly damaging Het
Phactr3 T C 2: 177,924,893 (GRCm39) V276A probably benign Het
Pla2g6 A T 15: 79,202,168 (GRCm39) M1K probably null Het
Plec T C 15: 76,074,728 (GRCm39) E413G probably damaging Het
Plxna2 G T 1: 194,326,626 (GRCm39) A187S possibly damaging Het
Polq A T 16: 36,892,184 (GRCm39) probably benign Het
Pramel51 T C 12: 88,143,202 (GRCm39) K139E probably benign Het
Prss39 A G 1: 34,541,216 (GRCm39) D240G probably benign Het
Ptpn12 A T 5: 21,203,553 (GRCm39) Y408* probably null Het
Ptprt A G 2: 162,109,999 (GRCm39) probably benign Het
Rnf6 A T 5: 146,152,931 (GRCm39) S95T possibly damaging Het
Ryr2 T C 13: 11,866,090 (GRCm39) S287G possibly damaging Het
Samd4b A G 7: 28,113,491 (GRCm39) F158S possibly damaging Het
Slco1a5 T A 6: 142,182,012 (GRCm39) I571L possibly damaging Het
Smchd1 T C 17: 71,738,285 (GRCm39) T527A probably damaging Het
Smg9 T C 7: 24,120,691 (GRCm39) probably null Het
Snx25 A G 8: 46,558,197 (GRCm39) L270P probably damaging Het
Ssh1 G T 5: 114,096,883 (GRCm39) T165N probably benign Het
Stk24 T A 14: 121,540,218 (GRCm39) E127V probably damaging Het
Suco A G 1: 161,661,689 (GRCm39) V914A probably damaging Het
Tbcd T A 11: 121,366,506 (GRCm39) probably benign Het
Tbcel A T 9: 42,355,817 (GRCm39) L114Q possibly damaging Het
Trpm1 A G 7: 63,884,767 (GRCm39) D816G probably benign Het
Uhrf1 G A 17: 56,625,250 (GRCm39) V566M probably damaging Het
Ulk4 T A 9: 121,095,367 (GRCm39) E95D probably damaging Het
Vmn1r40 T C 6: 89,691,201 (GRCm39) M6T probably benign Het
Vmn2r59 C T 7: 41,661,983 (GRCm39) V611I possibly damaging Het
Vwde G T 6: 13,193,239 (GRCm39) H367N probably benign Het
Xpo6 A G 7: 125,723,553 (GRCm39) V585A probably benign Het
Other mutations in Cd109
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Cd109 APN 9 78,524,251 (GRCm39) missense probably damaging 1.00
IGL00465:Cd109 APN 9 78,568,216 (GRCm39) nonsense probably null
IGL00667:Cd109 APN 9 78,592,159 (GRCm39) missense probably damaging 0.99
IGL01795:Cd109 APN 9 78,569,047 (GRCm39) splice site probably benign
IGL02343:Cd109 APN 9 78,596,237 (GRCm39) splice site probably benign
IGL02450:Cd109 APN 9 78,603,132 (GRCm39) missense possibly damaging 0.83
IGL02699:Cd109 APN 9 78,579,271 (GRCm39) splice site probably benign
IGL02738:Cd109 APN 9 78,598,581 (GRCm39) missense probably damaging 1.00
IGL02797:Cd109 APN 9 78,568,995 (GRCm39) missense probably damaging 0.96
IGL03160:Cd109 APN 9 78,568,338 (GRCm39) splice site probably null
IGL03349:Cd109 APN 9 78,543,767 (GRCm39) missense probably benign 0.34
FR4589:Cd109 UTSW 9 78,619,811 (GRCm39) critical splice acceptor site probably benign
R0048:Cd109 UTSW 9 78,587,303 (GRCm39) missense possibly damaging 0.50
R0060:Cd109 UTSW 9 78,610,389 (GRCm39) missense probably damaging 1.00
R0060:Cd109 UTSW 9 78,610,389 (GRCm39) missense probably damaging 1.00
R0158:Cd109 UTSW 9 78,596,214 (GRCm39) missense possibly damaging 0.49
R0415:Cd109 UTSW 9 78,619,897 (GRCm39) missense probably benign 0.13
R0659:Cd109 UTSW 9 78,587,452 (GRCm39) splice site probably benign
R0709:Cd109 UTSW 9 78,579,260 (GRCm39) missense possibly damaging 0.93
R0840:Cd109 UTSW 9 78,571,612 (GRCm39) missense probably benign 0.04
R0909:Cd109 UTSW 9 78,543,755 (GRCm39) missense probably benign 0.01
R0945:Cd109 UTSW 9 78,596,223 (GRCm39) missense possibly damaging 0.51
R1344:Cd109 UTSW 9 78,579,832 (GRCm39) critical splice acceptor site probably null
R1471:Cd109 UTSW 9 78,561,869 (GRCm39) missense probably damaging 1.00
R1484:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R1570:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R1688:Cd109 UTSW 9 78,612,373 (GRCm39) missense probably benign 0.17
R1773:Cd109 UTSW 9 78,611,006 (GRCm39) missense probably benign 0.21
R1813:Cd109 UTSW 9 78,524,287 (GRCm39) missense probably benign 0.04
R2004:Cd109 UTSW 9 78,611,044 (GRCm39) missense probably benign 0.00
R2083:Cd109 UTSW 9 78,574,575 (GRCm39) missense probably damaging 1.00
R2483:Cd109 UTSW 9 78,574,639 (GRCm39) missense probably damaging 1.00
R2857:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R2858:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R2859:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R2911:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R2912:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R2914:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R2927:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R3623:Cd109 UTSW 9 78,574,639 (GRCm39) missense probably damaging 1.00
R3713:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R3760:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R3762:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R3771:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R3772:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R3773:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R3916:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R3917:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4117:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4260:Cd109 UTSW 9 78,543,745 (GRCm39) missense possibly damaging 0.67
R4387:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4389:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4526:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4527:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4528:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4700:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4708:Cd109 UTSW 9 78,579,871 (GRCm39) missense probably benign 0.00
R4723:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4750:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4751:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4754:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4755:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4773:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R4984:Cd109 UTSW 9 78,541,959 (GRCm39) critical splice donor site probably null
R5259:Cd109 UTSW 9 78,617,434 (GRCm39) missense probably benign 0.30
R5353:Cd109 UTSW 9 78,617,521 (GRCm39) missense probably damaging 1.00
R5440:Cd109 UTSW 9 78,587,446 (GRCm39) critical splice donor site probably null
R5559:Cd109 UTSW 9 78,568,250 (GRCm39) missense probably benign 0.01
R5701:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R5995:Cd109 UTSW 9 78,607,561 (GRCm39) missense probably benign 0.01
R5997:Cd109 UTSW 9 78,612,344 (GRCm39) missense possibly damaging 0.93
R6103:Cd109 UTSW 9 78,605,596 (GRCm39) splice site probably null
R6174:Cd109 UTSW 9 78,572,828 (GRCm39) critical splice donor site probably null
R6410:Cd109 UTSW 9 78,564,798 (GRCm39) missense probably benign 0.01
R6529:Cd109 UTSW 9 78,619,907 (GRCm39) missense probably damaging 1.00
R6655:Cd109 UTSW 9 78,592,220 (GRCm39) missense probably benign 0.44
R6704:Cd109 UTSW 9 78,587,357 (GRCm39) missense probably benign 0.01
R6772:Cd109 UTSW 9 78,588,092 (GRCm39) missense possibly damaging 0.55
R6817:Cd109 UTSW 9 78,622,237 (GRCm39) missense probably benign 0.01
R6903:Cd109 UTSW 9 78,543,885 (GRCm39) missense probably damaging 0.97
R7294:Cd109 UTSW 9 78,619,917 (GRCm39) missense probably damaging 0.97
R7432:Cd109 UTSW 9 78,622,225 (GRCm39) missense possibly damaging 0.85
R7566:Cd109 UTSW 9 78,588,119 (GRCm39) missense probably damaging 1.00
R7767:Cd109 UTSW 9 78,617,441 (GRCm39) missense probably damaging 1.00
R7986:Cd109 UTSW 9 78,596,048 (GRCm39) missense possibly damaging 0.95
R8017:Cd109 UTSW 9 78,614,828 (GRCm39) missense possibly damaging 0.81
R8019:Cd109 UTSW 9 78,614,828 (GRCm39) missense possibly damaging 0.81
R8050:Cd109 UTSW 9 78,571,633 (GRCm39) missense probably benign 0.28
R8225:Cd109 UTSW 9 78,568,972 (GRCm39) missense probably damaging 0.99
R8269:Cd109 UTSW 9 78,572,964 (GRCm39) missense probably benign 0.06
R8479:Cd109 UTSW 9 78,574,628 (GRCm39) nonsense probably null
R8493:Cd109 UTSW 9 78,564,801 (GRCm39) missense probably benign 0.41
R8781:Cd109 UTSW 9 78,543,929 (GRCm39) missense probably damaging 1.00
R8977:Cd109 UTSW 9 78,614,810 (GRCm39) missense probably benign 0.36
R9051:Cd109 UTSW 9 78,619,813 (GRCm39) critical splice acceptor site probably benign
R9051:Cd109 UTSW 9 78,619,782 (GRCm39) critical splice acceptor site probably benign
R9228:Cd109 UTSW 9 78,577,042 (GRCm39) missense possibly damaging 0.93
R9366:Cd109 UTSW 9 78,622,275 (GRCm39) missense probably benign 0.11
R9430:Cd109 UTSW 9 78,574,698 (GRCm39) critical splice donor site probably null
R9572:Cd109 UTSW 9 78,567,588 (GRCm39) missense probably benign 0.16
R9691:Cd109 UTSW 9 78,611,074 (GRCm39) missense possibly damaging 0.94
R9736:Cd109 UTSW 9 78,619,918 (GRCm39) missense probably damaging 1.00
R9749:Cd109 UTSW 9 78,592,166 (GRCm39) missense probably damaging 1.00
R9751:Cd109 UTSW 9 78,605,442 (GRCm39) missense probably damaging 0.99
R9752:Cd109 UTSW 9 78,614,834 (GRCm39) missense probably benign 0.00
R9789:Cd109 UTSW 9 78,541,944 (GRCm39) missense possibly damaging 0.90
R9797:Cd109 UTSW 9 78,579,217 (GRCm39) missense probably benign 0.04
RF002:Cd109 UTSW 9 78,619,810 (GRCm39) critical splice acceptor site probably benign
RF002:Cd109 UTSW 9 78,619,805 (GRCm39) critical splice acceptor site probably benign
RF003:Cd109 UTSW 9 78,619,813 (GRCm39) critical splice acceptor site probably benign
RF011:Cd109 UTSW 9 78,619,810 (GRCm39) critical splice acceptor site probably benign
RF013:Cd109 UTSW 9 78,619,813 (GRCm39) critical splice acceptor site probably benign
RF047:Cd109 UTSW 9 78,619,809 (GRCm39) critical splice acceptor site probably benign
RF060:Cd109 UTSW 9 78,619,807 (GRCm39) critical splice acceptor site probably benign
Z1177:Cd109 UTSW 9 78,598,595 (GRCm39) missense probably damaging 0.96
Posted On 2013-11-11