Incidental Mutation 'R4755:Cd109'
ID 404195
Institutional Source Beutler Lab
Gene Symbol Cd109
Ensembl Gene ENSMUSG00000046186
Gene Name CD109 antigen
Synonyms Gov platelet alloantigens, 9930012E15Rik
MMRRC Submission 042033-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4755 (G1)
Quality Score 205
Status Validated
Chromosome 9
Chromosomal Location 78615546-78716253 bp(+) (GRCm38)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) CATTTATTTATTTATTTATTTATTTATTTATTTAT to CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT at 78712500 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093812]
AlphaFold Q8R422
Predicted Effect probably benign
Transcript: ENSMUST00000093812
SMART Domains Protein: ENSMUSP00000091330
Gene: ENSMUSG00000046186

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (112/117)
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,825,859 (GRCm38) noncoding transcript Het
Accs T C 2: 93,841,337 (GRCm38) E236G probably damaging Het
Agrn C T 4: 156,173,522 (GRCm38) probably benign Het
Ahi1 A G 10: 21,055,047 (GRCm38) I929V possibly damaging Het
Akap5 C A 12: 76,327,807 (GRCm38) C4* probably null Het
Amotl2 A T 9: 102,720,480 (GRCm38) H146L probably damaging Het
Ank1 A G 8: 23,104,974 (GRCm38) N666S probably damaging Het
Atp10d A T 5: 72,246,166 (GRCm38) T373S probably benign Het
Bpifb9b T A 2: 154,319,694 (GRCm38) M582K probably benign Het
Brca2 T A 5: 150,559,987 (GRCm38) probably null Het
C130079G13Rik C T 3: 59,936,314 (GRCm38) A143V probably benign Het
C330021F23Rik A T 8: 3,583,922 (GRCm38) S8C probably damaging Het
Ccdc149 A G 5: 52,404,151 (GRCm38) V229A probably damaging Het
Cdk5rap2 A G 4: 70,238,425 (GRCm38) S1617P probably damaging Het
Cenpk A T 13: 104,249,512 (GRCm38) H305L probably benign Het
Cenpk A T 13: 104,230,871 (GRCm38) M37L probably benign Het
Ces5a C A 8: 93,535,677 (GRCm38) A11S probably benign Het
Cfap65 T C 1: 74,928,361 (GRCm38) E186G probably damaging Het
Cfh T A 1: 140,088,808 (GRCm38) I593F probably damaging Het
Clstn2 C T 9: 97,445,673 (GRCm38) V961I probably benign Het
Cog5 T A 12: 31,869,406 (GRCm38) probably null Het
Col4a4 T C 1: 82,541,174 (GRCm38) D100G unknown Het
Cyp3a41a T C 5: 145,715,506 (GRCm38) D61G probably damaging Het
Dnah10 A G 5: 124,747,745 (GRCm38) N655S probably benign Het
Dnaic1 C G 4: 41,610,269 (GRCm38) T295R probably damaging Het
Dnajc6 C T 4: 101,550,799 (GRCm38) A44V probably damaging Het
Eif4enif1 A T 11: 3,244,016 (GRCm38) D960V probably damaging Het
Fam167b C T 4: 129,578,342 (GRCm38) G12R probably damaging Het
Fam20b A T 1: 156,687,496 (GRCm38) Y266* probably null Het
Fer1l6 T A 15: 58,640,211 (GRCm38) V1509D probably benign Het
Fhad1 A T 4: 141,928,483 (GRCm38) I105N probably damaging Het
Fmo2 T C 1: 162,888,805 (GRCm38) D71G probably damaging Het
Folr2 T C 7: 101,843,799 (GRCm38) T6A possibly damaging Het
Fry A C 5: 150,398,254 (GRCm38) E1018A probably damaging Het
Gas2l2 A G 11: 83,429,367 (GRCm38) I21T probably damaging Het
Gfra1 T C 19: 58,453,244 (GRCm38) Y85C probably damaging Het
Gm9117 T C 3: 93,938,786 (GRCm38) probably null Het
Gpld1 A T 13: 24,979,688 (GRCm38) Y43F probably benign Het
Gpld1 T A 13: 24,979,692 (GRCm38) Y44* probably null Het
Grid2 A G 6: 63,908,988 (GRCm38) T123A probably benign Het
Grina T C 15: 76,249,242 (GRCm38) L305P probably damaging Het
Gucy1a1 G A 3: 82,094,795 (GRCm38) A659V probably benign Het
H2-T10 T A 17: 36,118,945 (GRCm38) K319* probably null Het
Hey2 A T 10: 30,834,304 (GRCm38) V151E probably benign Het
Ighv1-69 G A 12: 115,623,558 (GRCm38) T13I probably benign Het
Il1rap C A 16: 26,722,782 (GRCm38) A591E probably benign Het
Ildr1 T C 16: 36,722,021 (GRCm38) L261P probably benign Het
Jak1 A G 4: 101,174,157 (GRCm38) Y463H probably damaging Het
Lrp1b T C 2: 41,269,273 (GRCm38) I1666V probably benign Het
Lrp1b T A 2: 41,471,016 (GRCm38) T592S probably benign Het
Lrrc36 A G 8: 105,452,144 (GRCm38) T445A possibly damaging Het
Ly9 G A 1: 171,607,238 (GRCm38) S29F probably damaging Het
Mapk7 A C 11: 61,490,843 (GRCm38) C32W probably damaging Het
March10 C T 11: 105,364,476 (GRCm38) probably benign Het
Mier2 A T 10: 79,549,197 (GRCm38) M119K probably damaging Het
Mpv17 A T 5: 31,145,982 (GRCm38) C59* probably null Het
Mrpl27 G A 11: 94,653,833 (GRCm38) probably benign Het
Myo18b G A 5: 112,874,474 (GRCm38) Q351* probably null Het
Myo1a A G 10: 127,715,688 (GRCm38) I704M probably damaging Het
Nadsyn1 A G 7: 143,806,913 (GRCm38) C373R probably damaging Het
Nckipsd C A 9: 108,814,739 (GRCm38) A513E probably benign Het
Neb T C 2: 52,220,209 (GRCm38) D209G probably damaging Het
Nkapl T A 13: 21,468,287 (GRCm38) Q52L unknown Het
Nptx2 G A 5: 144,546,440 (GRCm38) S126N probably benign Het
Olfr13 G A 6: 43,174,043 (GRCm38) S19N probably benign Het
Olfr653 T A 7: 104,580,061 (GRCm38) Y138* probably null Het
Olfr829 A T 9: 18,857,180 (GRCm38) H185L probably benign Het
Olfr917 A G 9: 38,665,832 (GRCm38) V4A probably benign Het
Pclo A T 5: 14,714,348 (GRCm38) R4278S unknown Het
Pcnx T G 12: 81,950,294 (GRCm38) L988R probably damaging Het
Prl2c5 C A 13: 13,189,385 (GRCm38) N75K probably benign Het
Prpf19 T G 19: 10,897,790 (GRCm38) probably benign Het
Ralgapa1 A G 12: 55,712,748 (GRCm38) S997P probably damaging Het
Rangap1 T C 15: 81,712,917 (GRCm38) T226A probably benign Het
Rimklb G A 6: 122,456,406 (GRCm38) L262F probably damaging Het
Rnf169 A G 7: 99,925,723 (GRCm38) M555T probably benign Het
Rp1l1 A T 14: 64,030,070 (GRCm38) D1035V probably benign Het
Scd2 T A 19: 44,301,352 (GRCm38) L262Q probably damaging Het
Scgb2b12 T A 7: 32,325,531 (GRCm38) M84L probably benign Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Sipa1l1 G A 12: 82,372,386 (GRCm38) V613I possibly damaging Het
Slc25a23 T A 17: 57,052,794 (GRCm38) D67V possibly damaging Het
Slc25a39 C T 11: 102,406,666 (GRCm38) probably benign Het
Slc4a10 T A 2: 62,296,988 (GRCm38) F895Y probably damaging Het
Slc5a4a A C 10: 76,186,564 (GRCm38) K578Q probably benign Het
Slc6a13 G A 6: 121,325,049 (GRCm38) G197S probably damaging Het
Smarca2 A T 19: 26,654,483 (GRCm38) E566V possibly damaging Het
Sorbs3 A T 14: 70,184,099 (GRCm38) N594K probably benign Het
Spata22 A T 11: 73,345,756 (GRCm38) D296V probably damaging Het
Sphk2 G A 7: 45,713,634 (GRCm38) A11V possibly damaging Het
Spp1 A T 5: 104,435,215 (GRCm38) probably benign Het
Strn3 T A 12: 51,610,216 (GRCm38) I760L possibly damaging Het
Syk A T 13: 52,641,986 (GRCm38) Y539F probably benign Het
Thsd7b T A 1: 130,210,264 (GRCm38) Y1560N probably benign Het
Tmod2 C A 9: 75,597,212 (GRCm38) E42* probably null Het
Tom1l1 T C 11: 90,685,116 (GRCm38) E30G probably damaging Het
Trav10 G A 14: 53,506,061 (GRCm38) A40T probably benign Het
Trav14-2 G A 14: 53,640,780 (GRCm38) probably benign Het
Tril T A 6: 53,818,464 (GRCm38) E591V probably damaging Het
Trp53bp1 T A 2: 121,228,606 (GRCm38) R179* probably null Het
Tspoap1 A T 11: 87,771,663 (GRCm38) D562V possibly damaging Het
Usp44 A T 10: 93,846,906 (GRCm38) H406L probably damaging Het
Vangl1 A G 3: 102,158,292 (GRCm38) I509T probably benign Het
Vax2 T G 6: 83,711,397 (GRCm38) L34W probably damaging Het
Vmn1r55 A T 7: 5,147,026 (GRCm38) C133S probably damaging Het
Vmn2r8 T A 5: 108,801,700 (GRCm38) D427V probably benign Het
Vwde A G 6: 13,205,852 (GRCm38) I232T possibly damaging Het
Wnk1 C A 6: 119,963,470 (GRCm38) A769S probably damaging Het
Xpo4 A C 14: 57,618,181 (GRCm38) S264A probably benign Het
Zfp330 A T 8: 82,769,386 (GRCm38) C75* probably null Het
Zfp526 T A 7: 25,225,639 (GRCm38) L441Q probably benign Het
Zfp607b T G 7: 27,703,505 (GRCm38) L462R probably damaging Het
Zfp719 T A 7: 43,590,793 (GRCm38) F602I probably damaging 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
R0415:Cd109 UTSW 9 78,712,615 (GRCm38) missense probably benign 0.13
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
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'- CCTTTAGTAGACGGGGACTAAG -3'
(R):5'- AAAATGCCTGCCTTGATTCCC -3'

Sequencing Primer
(F):5'- GGGGACTAAGAACCATTCCTCTG -3'
(R):5'- GCCTTGATTCCCAAAGTCTTAGAAAC -3'
Posted On 2016-07-22