Mutagenetix > Incidental Mutation

Incidental Mutation 'R8493:Cd109'

658133

Institutional Source

Beutler Lab

Gene Symbol

Cd109

Ensembl Gene

ENSMUSG00000046186

Gene Name

CD109 antigen

Synonyms

Gov platelet alloantigens, 9930012E15Rik

MMRRC Submission

067935-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78522828-78623535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78564801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 249 (V249I)

Ref Sequence

ENSEMBL: ENSMUSP00000091330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093812]

AlphaFold

Q8R422

Predicted Effect

probably benign
Transcript: ENSMUST00000093812
AA Change: V249I

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091330
Gene: ENSMUSG00000046186
AA Change: V249I

Domain	Start	End	E-Value	Type
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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,653,453 (GRCm39)	M1L	unknown	Het
Abca13	T	A	11: 9,460,668 (GRCm39)	I4226N	probably damaging	Het
Ankrd10	C	A	8: 11,678,518 (GRCm39)	E125*	probably null	Het
Apob	A	T	12: 8,059,009 (GRCm39)	D2497V	possibly damaging	Het
Arap1	G	A	7: 101,035,725 (GRCm39)	W87*	probably null	Het
Arhgef37	C	T	18: 61,640,277 (GRCm39)	V261I	probably benign	Het
Arl4a	A	C	12: 40,086,472 (GRCm39)	C92G	probably benign	Het
Arrdc2	C	T	8: 71,289,501 (GRCm39)		probably null	Het
Atg16l1	A	C	1: 87,706,704 (GRCm39)	T355P	probably damaging	Het
Card14	T	G	11: 119,224,435 (GRCm39)		probably null	Het
Cdhr4	A	G	9: 107,873,453 (GRCm39)	D395G	probably damaging	Het
Celsr1	C	A	15: 85,822,207 (GRCm39)	M1703I	possibly damaging	Het
Cfap157	A	G	2: 32,669,752 (GRCm39)	I277T	probably benign	Het
Chst4	A	G	8: 110,757,095 (GRCm39)	V173A	probably damaging	Het
Clca4b	T	C	3: 144,617,911 (GRCm39)	N731D	probably benign	Het
Col11a2	A	G	17: 34,278,936 (GRCm39)	E1122G	possibly damaging	Het
Csf1r	C	G	18: 61,247,954 (GRCm39)	P341A	probably damaging	Het
Dclk3	A	G	9: 111,297,215 (GRCm39)	E253G	probably benign	Het
Dnah2	T	A	11: 69,343,804 (GRCm39)	D2829V	probably damaging	Het
Dnah7a	T	C	1: 53,512,067 (GRCm39)	N2998S	probably damaging	Het
Ehbp1	C	T	11: 22,235,842 (GRCm39)		probably benign	Het
Eprs1	A	T	1: 185,139,371 (GRCm39)	K919*	probably null	Het
Esp16	A	T	17: 39,850,821 (GRCm39)	K67*	probably null	Het
Fam169a	G	T	13: 97,259,367 (GRCm39)	E474D	probably benign	Het
Fam83h	C	T	15: 75,874,502 (GRCm39)	R945H	probably benign	Het
Flnb	T	A	14: 7,869,822 (GRCm38)	V195E	probably damaging	Het
Gm3159	T	C	14: 4,398,567 (GRCm38)	I86T	probably damaging	Het
Gm4744	G	A	6: 40,926,281 (GRCm39)	S103F		Het
Gvin2	A	G	7: 105,548,088 (GRCm39)	S1655P	probably benign	Het
Ift122	T	A	6: 115,887,292 (GRCm39)	I713N	probably benign	Het
Ilkap	A	G	1: 91,306,266 (GRCm39)	I105T	probably damaging	Het
Isl1	G	T	13: 116,441,835 (GRCm39)	H133N	possibly damaging	Het
Jade1	T	A	3: 41,559,113 (GRCm39)	L398Q	possibly damaging	Het
Kcnh7	C	T	2: 62,681,003 (GRCm39)	V195M	probably benign	Het
Kif3a	A	T	11: 53,489,627 (GRCm39)	K669*	probably null	Het
L3mbtl4	G	A	17: 68,937,239 (GRCm39)	R420H	probably damaging	Het
Mrgprb1	A	T	7: 48,097,321 (GRCm39)	I197N	probably damaging	Het
Mthfd1	A	G	12: 76,340,929 (GRCm39)	T263A	probably damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Naxe	A	G	3: 87,965,757 (GRCm39)		probably benign	Het
Ndufs2	T	C	1: 171,068,677 (GRCm39)	T51A	probably benign	Het
Nlrc5	T	A	8: 95,249,848 (GRCm39)	L1824Q	probably damaging	Het
Notch1	A	G	2: 26,362,251 (GRCm39)	V27A	unknown	Het
Nucks1	A	T	1: 131,857,473 (GRCm39)	M169L	probably benign	Het
Or10ag53	T	A	2: 87,083,215 (GRCm39)	D311E	probably benign	Het
Or13p4	C	T	4: 118,547,229 (GRCm39)	S140N	probably benign	Het
Or4a80	T	A	2: 89,582,599 (GRCm39)	Y191F	probably benign	Het
Or4k45	T	A	2: 111,395,324 (GRCm39)	H155L	probably damaging	Het
Or51aa2	A	T	7: 103,187,479 (GRCm39)	S321T	probably benign	Het
Or52n20	G	T	7: 104,320,022 (GRCm39)	V38L	probably benign	Het
Or5w10	T	A	2: 87,375,114 (GRCm39)	Y258F	probably damaging	Het
Pcnt	C	T	10: 76,239,457 (GRCm39)		probably null	Het
Pdcd7	T	C	9: 65,254,039 (GRCm39)	S206P	probably benign	Het
Pdia4	A	T	6: 47,773,575 (GRCm39)	Y591*	probably null	Het
Pgap6	G	T	17: 26,340,931 (GRCm39)	R678L	probably damaging	Het
Plxna4	C	T	6: 32,192,647 (GRCm39)	M771I	probably benign	Het
Pramel47	C	T	5: 95,488,092 (GRCm39)	H9Y	possibly damaging	Het
Ptpn13	A	G	5: 103,712,031 (GRCm39)	Y1643C	probably damaging	Het
Ptpn13	A	G	5: 103,717,671 (GRCm39)	I1906V	probably benign	Het
Rab33b	T	A	3: 51,391,795 (GRCm39)	S15T	probably benign	Het
Rasip1	A	T	7: 45,284,467 (GRCm39)	M644L	possibly damaging	Het
Rnf4	G	A	5: 34,506,035 (GRCm39)	C55Y	probably damaging	Het
Sel1l	A	T	12: 91,780,735 (GRCm39)	Y585*	probably null	Het
Slc40a1	A	T	1: 45,950,576 (GRCm39)	F292Y	probably damaging	Het
Smarca4	G	A	9: 21,570,144 (GRCm39)	D716N	probably damaging	Het
Sp7	T	A	15: 102,266,837 (GRCm39)	H323L	possibly damaging	Het
Speer1m	T	C	5: 11,971,489 (GRCm39)	L147P	probably damaging	Het
Sprtn	A	G	8: 125,629,933 (GRCm39)	S409G	probably benign	Het
St3gal2	T	G	8: 111,688,853 (GRCm39)	L131R	probably damaging	Het
Tctn1	A	G	5: 122,399,552 (GRCm39)	C91R	probably damaging	Het
Tgm1	A	T	14: 55,937,754 (GRCm39)	V785E	probably damaging	Het
Topaz1	G	T	9: 122,579,573 (GRCm39)	V828L	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Ttc27	G	A	17: 75,050,047 (GRCm39)		probably null	Het
Usp2	G	A	9: 43,987,350 (GRCm39)	G216D	possibly damaging	Het
Vmn2r99	A	G	17: 19,614,020 (GRCm39)	D580G	probably benign	Het
Wbp1l	G	A	19: 46,640,988 (GRCm39)	R106H	possibly damaging	Het
Zmym2	G	T	14: 57,151,606 (GRCm39)	C497F	probably damaging	Het

Other mutations in Cd109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01432:Cd109	APN	9	78,605,405 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCCTAATACAGCCGCATTTAAGAAC -3'
(R):5'- AGCTTGAAGTACAGATGTGGAC -3'

Sequencing Primer
(F):5'- GAACTACCAACTATCAACTTGTGAG -3'
(R):5'- CGCTGTTTTACAACAGTTT -3'

Posted On

2021-01-18