Incidental Mutation 'R0415:Cd109'
ID 40251
Institutional Source Beutler Lab
Gene Symbol Cd109
Ensembl Gene ENSMUSG00000046186
Gene Name CD109 antigen
Synonyms Gov platelet alloantigens, 9930012E15Rik
MMRRC Submission 038617-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0415 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 78615546-78716253 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78712615 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1380 (S1380T)
Ref Sequence ENSEMBL: ENSMUSP00000091330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093812]
AlphaFold Q8R422
Predicted Effect probably benign
Transcript: ENSMUST00000093812
AA Change: S1380T

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000091330
Gene: ENSMUSG00000046186
AA Change: S1380T

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
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 97% (99/102)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427G23Rik A T 5: 23,831,050 (GRCm38) noncoding transcript Het
Acox2 A G 14: 8,243,835 (GRCm38) probably benign Het
Adgb T C 10: 10,431,067 (GRCm38) probably null Het
Adgra3 C A 5: 49,961,757 (GRCm38) probably benign Het
Adgre4 G A 17: 55,852,288 (GRCm38) V658I probably benign Het
Ahnak A G 19: 9,012,871 (GRCm38) probably benign Het
Anapc2 A G 2: 25,278,325 (GRCm38) T159A probably damaging Het
Arfgef3 A G 10: 18,613,127 (GRCm38) probably benign Het
Atf7ip C T 6: 136,560,012 (GRCm38) S81L possibly damaging Het
Cacna1i A G 15: 80,368,830 (GRCm38) probably benign Het
Camk1 A T 6: 113,341,891 (GRCm38) Y20* probably null Het
Ccdc40 T C 11: 119,232,118 (GRCm38) Y249H possibly damaging Het
Cfap57 A T 4: 118,569,431 (GRCm38) L1107Q possibly damaging Het
Col6a4 C T 9: 106,075,080 (GRCm38) V540I probably damaging Het
Cst9 T A 2: 148,838,442 (GRCm38) probably benign Het
Cul5 C T 9: 53,667,070 (GRCm38) V73I probably benign Het
Cxcl16 T A 11: 70,458,748 (GRCm38) K84* probably null Het
Cyp2c29 T C 19: 39,329,095 (GRCm38) probably benign Het
D6Ertd527e C G 6: 87,111,524 (GRCm38) T223S unknown Het
Dip2c C T 13: 9,568,289 (GRCm38) probably benign Het
Dis3 A T 14: 99,087,456 (GRCm38) I513N probably damaging Het
Dnajc16 A T 4: 141,789,048 (GRCm38) L3* probably null Het
Dopey1 T A 9: 86,506,502 (GRCm38) L480M probably damaging Het
Eml6 A G 11: 29,749,392 (GRCm38) V1787A possibly damaging Het
Etnk1 A G 6: 143,180,774 (GRCm38) N115S probably damaging Het
Fryl T C 5: 73,098,414 (GRCm38) Y758C probably damaging Het
Gbp4 G A 5: 105,121,106 (GRCm38) R394C possibly damaging Het
Ggnbp2 A C 11: 84,833,225 (GRCm38) probably benign Het
Gm7137 A G 10: 77,788,173 (GRCm38) probably benign Het
Gstm2 T A 3: 107,984,006 (GRCm38) Q132L probably benign Het
Habp2 T C 19: 56,317,717 (GRCm38) probably benign Het
Hectd2 T C 19: 36,584,884 (GRCm38) probably benign Het
Htr6 A G 4: 139,062,081 (GRCm38) I291T possibly damaging Het
Ighg2c T C 12: 113,287,910 (GRCm38) D199G unknown Het
Itih2 A G 2: 10,105,615 (GRCm38) probably benign Het
Kcnab2 A G 4: 152,395,136 (GRCm38) F248S probably benign Het
Kcnc4 T C 3: 107,445,433 (GRCm38) K610E probably damaging Het
Kcnk16 T A 14: 20,262,975 (GRCm38) probably null Het
Kndc1 C T 7: 139,930,124 (GRCm38) T1293I probably damaging Het
Lcp1 A T 14: 75,227,006 (GRCm38) I556F possibly damaging Het
Lrrc8d T C 5: 105,811,865 (GRCm38) L47P probably damaging Het
Lyst T C 13: 13,711,610 (GRCm38) probably benign Het
Macrod2 G A 2: 142,210,145 (GRCm38) probably null Het
Micalcl C T 7: 112,381,028 (GRCm38) R70C probably damaging Het
Mllt3 ACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCT 4: 87,841,339 (GRCm38) probably benign Het
Msh3 A G 13: 92,346,786 (GRCm38) V283A possibly damaging Het
Nup205 T C 6: 35,214,634 (GRCm38) probably benign Het
Nxpe2 T C 9: 48,326,614 (GRCm38) T114A probably damaging Het
Olfr1023 A T 2: 85,887,438 (GRCm38) I213F possibly damaging Het
Olfr1034 A T 2: 86,047,055 (GRCm38) H191L probably benign Het
Olfr229 A G 9: 39,909,983 (GRCm38) Y60C probably damaging Het
Olfr78 C T 7: 102,742,087 (GRCm38) M305I probably benign Het
Olfr893 A T 9: 38,209,973 (GRCm38) M305L probably benign Het
Pard3 G A 8: 127,610,566 (GRCm38) G1221D probably damaging Het
Pax5 G A 4: 44,691,886 (GRCm38) A120V probably damaging Het
Pcsk6 C T 7: 66,033,874 (GRCm38) R746C probably damaging Het
Pif1 G A 9: 65,588,051 (GRCm38) C81Y probably benign Het
Plcb1 A G 2: 135,337,499 (GRCm38) Y609C probably damaging Het
Plcd4 C A 1: 74,552,097 (GRCm38) S217Y probably damaging Het
Plxna1 G A 6: 89,357,336 (GRCm38) H104Y probably benign Het
Polr2k A G 15: 36,175,456 (GRCm38) Y45C probably damaging Het
Pqlc3 C A 12: 16,997,710 (GRCm38) probably benign Het
Prex1 A G 2: 166,586,699 (GRCm38) probably benign Het
Pth2r A G 1: 65,388,439 (GRCm38) M424V probably benign Het
Pygm A G 19: 6,391,366 (GRCm38) R464G probably benign Het
Rad51c A G 11: 87,397,655 (GRCm38) L234P probably damaging Het
Rnf145 A G 11: 44,525,138 (GRCm38) Y60C probably damaging Het
Rnf167 T C 11: 70,649,699 (GRCm38) I135T probably damaging Het
Rnf213 A T 11: 119,414,469 (GRCm38) I509F probably damaging Het
Ryr2 T C 13: 11,869,156 (GRCm38) S213G probably damaging Het
Selenbp1 T C 3: 94,936,913 (GRCm38) V27A possibly damaging Het
Selenof T G 3: 144,577,692 (GRCm38) L14R probably damaging Het
Sfswap A T 5: 129,504,126 (GRCm38) D121V probably damaging Het
Slc25a34 C A 4: 141,620,469 (GRCm38) M300I possibly damaging Het
Slc34a3 T G 2: 25,229,110 (GRCm38) T583P probably benign Het
Smg1 C A 7: 118,182,468 (GRCm38) A1199S probably benign Het
Spint1 A G 2: 119,245,615 (GRCm38) T231A probably damaging Het
Sptbn1 A C 11: 30,149,576 (GRCm38) N229K probably damaging Het
Sult2b1 A G 7: 45,730,092 (GRCm38) probably benign Het
Tas2r123 A T 6: 132,847,838 (GRCm38) M233L probably damaging Het
Tbcel C A 9: 42,444,500 (GRCm38) C139F probably benign Het
Thbs2 A C 17: 14,679,973 (GRCm38) S573A probably benign Het
Tmem132c A G 5: 127,563,705 (GRCm38) E980G probably damaging Het
Tmem247 G T 17: 86,922,322 (GRCm38) C197F probably damaging Het
Tmem251 T A 12: 102,744,876 (GRCm38) Y119* probably null Het
Tmem43 C A 6: 91,482,318 (GRCm38) P257Q probably benign Het
Tmprss13 A G 9: 45,337,132 (GRCm38) probably null Het
Trove2 G T 1: 143,760,075 (GRCm38) N444K probably benign Het
Ubr5 T C 15: 37,972,980 (GRCm38) T2626A probably damaging Het
Vmn1r196 T A 13: 22,293,836 (GRCm38) V215D probably damaging Het
Vmn1r22 G T 6: 57,900,332 (GRCm38) T220K probably benign Het
Vmn2r116 G A 17: 23,387,279 (GRCm38) M388I possibly damaging Het
Vmn2r74 A C 7: 85,961,410 (GRCm38) C25G probably damaging Het
Xndc1 T C 7: 102,080,616 (GRCm38) probably benign Het
Zfp282 A G 6: 47,897,881 (GRCm38) D340G probably damaging Het
Zfp282 T A 6: 47,905,053 (GRCm38) I558N possibly damaging Het
Zfp316 T A 5: 143,264,491 (GRCm38) T56S unknown Het
Zfp345 A G 2: 150,474,559 (GRCm38) probably benign Het
Other mutations in Cd109
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Cd109 APN 9 78,616,969 (GRCm38) missense probably damaging 1.00
IGL00465:Cd109 APN 9 78,660,934 (GRCm38) nonsense probably null
IGL00667:Cd109 APN 9 78,684,877 (GRCm38) missense probably damaging 0.99
IGL01432:Cd109 APN 9 78,698,123 (GRCm38) missense probably benign
IGL01795:Cd109 APN 9 78,661,765 (GRCm38) splice site probably benign
IGL02343:Cd109 APN 9 78,688,955 (GRCm38) splice site probably benign
IGL02450:Cd109 APN 9 78,695,850 (GRCm38) missense possibly damaging 0.83
IGL02699:Cd109 APN 9 78,671,989 (GRCm38) splice site probably benign
IGL02738:Cd109 APN 9 78,691,299 (GRCm38) missense probably damaging 1.00
IGL02797:Cd109 APN 9 78,661,713 (GRCm38) missense probably damaging 0.96
IGL03160:Cd109 APN 9 78,661,056 (GRCm38) splice site probably null
IGL03349:Cd109 APN 9 78,636,485 (GRCm38) missense probably benign 0.34
FR4589:Cd109 UTSW 9 78,712,529 (GRCm38) critical splice acceptor site probably benign
R0048:Cd109 UTSW 9 78,680,021 (GRCm38) missense possibly damaging 0.50
R0060:Cd109 UTSW 9 78,703,107 (GRCm38) missense probably damaging 1.00
R0060:Cd109 UTSW 9 78,703,107 (GRCm38) missense probably damaging 1.00
R0158:Cd109 UTSW 9 78,688,932 (GRCm38) missense possibly damaging 0.49
R0659:Cd109 UTSW 9 78,680,170 (GRCm38) splice site probably benign
R0709:Cd109 UTSW 9 78,671,978 (GRCm38) missense possibly damaging 0.93
R0840:Cd109 UTSW 9 78,664,330 (GRCm38) missense probably benign 0.04
R0909:Cd109 UTSW 9 78,636,473 (GRCm38) missense probably benign 0.01
R0945:Cd109 UTSW 9 78,688,941 (GRCm38) missense possibly damaging 0.51
R1344:Cd109 UTSW 9 78,672,550 (GRCm38) critical splice acceptor site probably null
R1471:Cd109 UTSW 9 78,654,587 (GRCm38) missense probably damaging 1.00
R1484:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R1570:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R1688:Cd109 UTSW 9 78,705,091 (GRCm38) missense probably benign 0.17
R1773:Cd109 UTSW 9 78,703,724 (GRCm38) missense probably benign 0.21
R1813:Cd109 UTSW 9 78,617,005 (GRCm38) missense probably benign 0.04
R2004:Cd109 UTSW 9 78,703,762 (GRCm38) missense probably benign 0.00
R2083:Cd109 UTSW 9 78,667,293 (GRCm38) missense probably damaging 1.00
R2483:Cd109 UTSW 9 78,667,357 (GRCm38) missense probably damaging 1.00
R2857:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R2858:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R2859:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R2911:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R2912:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R2914:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R2927:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R3623:Cd109 UTSW 9 78,667,357 (GRCm38) missense probably damaging 1.00
R3713:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R3760:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R3762:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R3771:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R3772:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R3773:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R3916:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R3917:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4117:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4260:Cd109 UTSW 9 78,636,463 (GRCm38) missense possibly damaging 0.67
R4387:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4389:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4526:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4527:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4528:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4700:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4708:Cd109 UTSW 9 78,672,589 (GRCm38) missense probably benign 0.00
R4723:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4750:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4751:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4754:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4755:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4773:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R4984:Cd109 UTSW 9 78,634,677 (GRCm38) critical splice donor site probably null
R5259:Cd109 UTSW 9 78,710,152 (GRCm38) missense probably benign 0.30
R5353:Cd109 UTSW 9 78,710,239 (GRCm38) missense probably damaging 1.00
R5440:Cd109 UTSW 9 78,680,164 (GRCm38) critical splice donor site probably null
R5559:Cd109 UTSW 9 78,660,968 (GRCm38) missense probably benign 0.01
R5701:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R5995:Cd109 UTSW 9 78,700,279 (GRCm38) missense probably benign 0.01
R5997:Cd109 UTSW 9 78,705,062 (GRCm38) missense possibly damaging 0.93
R6103:Cd109 UTSW 9 78,698,314 (GRCm38) splice site probably null
R6174:Cd109 UTSW 9 78,665,546 (GRCm38) critical splice donor site probably null
R6410:Cd109 UTSW 9 78,657,516 (GRCm38) missense probably benign 0.01
R6529:Cd109 UTSW 9 78,712,625 (GRCm38) missense probably damaging 1.00
R6655:Cd109 UTSW 9 78,684,938 (GRCm38) missense probably benign 0.44
R6704:Cd109 UTSW 9 78,680,075 (GRCm38) missense probably benign 0.01
R6772:Cd109 UTSW 9 78,680,810 (GRCm38) missense possibly damaging 0.55
R6817:Cd109 UTSW 9 78,714,955 (GRCm38) missense probably benign 0.01
R6903:Cd109 UTSW 9 78,636,603 (GRCm38) missense probably damaging 0.97
R7294:Cd109 UTSW 9 78,712,635 (GRCm38) missense probably damaging 0.97
R7432:Cd109 UTSW 9 78,714,943 (GRCm38) missense possibly damaging 0.85
R7566:Cd109 UTSW 9 78,680,837 (GRCm38) missense probably damaging 1.00
R7767:Cd109 UTSW 9 78,710,159 (GRCm38) missense probably damaging 1.00
R7986:Cd109 UTSW 9 78,688,766 (GRCm38) missense possibly damaging 0.95
R8017:Cd109 UTSW 9 78,707,546 (GRCm38) missense possibly damaging 0.81
R8019:Cd109 UTSW 9 78,707,546 (GRCm38) missense possibly damaging 0.81
R8050:Cd109 UTSW 9 78,664,351 (GRCm38) missense probably benign 0.28
R8225:Cd109 UTSW 9 78,661,690 (GRCm38) missense probably damaging 0.99
R8269:Cd109 UTSW 9 78,665,682 (GRCm38) missense probably benign 0.06
R8479:Cd109 UTSW 9 78,667,346 (GRCm38) nonsense probably null
R8493:Cd109 UTSW 9 78,657,519 (GRCm38) missense probably benign 0.41
R8781:Cd109 UTSW 9 78,636,647 (GRCm38) missense probably damaging 1.00
R8977:Cd109 UTSW 9 78,707,528 (GRCm38) missense probably benign 0.36
R9051:Cd109 UTSW 9 78,712,531 (GRCm38) critical splice acceptor site probably benign
R9051:Cd109 UTSW 9 78,712,500 (GRCm38) critical splice acceptor site probably benign
R9228:Cd109 UTSW 9 78,669,760 (GRCm38) missense possibly damaging 0.93
R9366:Cd109 UTSW 9 78,714,993 (GRCm38) missense probably benign 0.11
R9430:Cd109 UTSW 9 78,667,416 (GRCm38) critical splice donor site probably null
R9572:Cd109 UTSW 9 78,660,306 (GRCm38) missense probably benign 0.16
R9691:Cd109 UTSW 9 78,703,792 (GRCm38) missense possibly damaging 0.94
R9736:Cd109 UTSW 9 78,712,636 (GRCm38) missense probably damaging 1.00
R9749:Cd109 UTSW 9 78,684,884 (GRCm38) missense probably damaging 1.00
R9751:Cd109 UTSW 9 78,698,160 (GRCm38) missense probably damaging 0.99
R9752:Cd109 UTSW 9 78,707,552 (GRCm38) missense probably benign 0.00
R9789:Cd109 UTSW 9 78,634,662 (GRCm38) missense possibly damaging 0.90
R9797:Cd109 UTSW 9 78,671,935 (GRCm38) missense probably benign 0.04
RF002:Cd109 UTSW 9 78,712,528 (GRCm38) critical splice acceptor site probably benign
RF002:Cd109 UTSW 9 78,712,523 (GRCm38) critical splice acceptor site probably benign
RF003:Cd109 UTSW 9 78,712,531 (GRCm38) critical splice acceptor site probably benign
RF011:Cd109 UTSW 9 78,712,528 (GRCm38) critical splice acceptor site probably benign
RF013:Cd109 UTSW 9 78,712,531 (GRCm38) critical splice acceptor site probably benign
RF047:Cd109 UTSW 9 78,712,527 (GRCm38) critical splice acceptor site probably benign
RF060:Cd109 UTSW 9 78,712,525 (GRCm38) critical splice acceptor site probably benign
Z1177:Cd109 UTSW 9 78,691,313 (GRCm38) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGCATCCCTTTAGTAGACGGGGAC -3'
(R):5'- TCTTCATTTACAGACAGCCTGCCAC -3'

Sequencing Primer
(F):5'- attacctgacattcagaaattctcc -3'
(R):5'- AGCCTGCCACCTGCATC -3'
Posted On 2013-05-23