Mutagenetix > Incidental Mutation

Incidental Mutation 'R9228:Cd109'

700025

Institutional Source

Beutler Lab

Gene Symbol

Cd109

Ensembl Gene

ENSMUSG00000046186

Gene Name

CD109 antigen

Synonyms

Gov platelet alloantigens, 9930012E15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9228 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78522828-78623535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78577042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 580 (I580F)

Ref Sequence

ENSEMBL: ENSMUSP00000091330 (fasta)

Gene Model

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

AlphaFold

Q8R422

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093812
AA Change: I580F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091330
Gene: ENSMUSG00000046186
AA Change: I580F

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	A	3: 122,718,274 (GRCm39)	A56T	probably benign	Het
4930438A08Rik	A	T	11: 58,178,296 (GRCm39)	I119F		Het
Abca12	A	T	1: 71,332,599 (GRCm39)	I1254N	probably damaging	Het
Abcb11	G	T	2: 69,138,809 (GRCm39)	Y157*	probably null	Het
Adcy7	G	A	8: 89,044,675 (GRCm39)		probably null	Het
Adnp	A	G	2: 168,026,798 (GRCm39)	Y166H	probably damaging	Het
Adprhl1	A	G	8: 13,275,279 (GRCm39)	V493A	probably benign	Het
Ahctf1	T	C	1: 179,611,685 (GRCm39)	T562A	probably benign	Het
Amotl1	T	A	9: 14,504,320 (GRCm39)	N296I	possibly damaging	Het
Ankar	A	G	1: 72,713,210 (GRCm39)	V693A	probably benign	Het
Ankrd16	T	C	2: 11,786,318 (GRCm39)	V189A	probably benign	Het
Bmp1	A	G	14: 70,757,338 (GRCm39)	L47P	probably benign	Het
Cacna2d4	A	G	6: 119,248,476 (GRCm39)	D429G	probably benign	Het
Cadps2	T	A	6: 23,688,927 (GRCm39)	E127D	probably benign	Het
Cdrt4	T	A	11: 62,842,124 (GRCm39)	I2N	unknown	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Chuk	A	T	19: 44,095,789 (GRCm39)	W15R	probably damaging	Het
Cpvl	C	T	6: 53,951,779 (GRCm39)	M1I	probably null	Het
Cyfip1	A	G	7: 55,549,758 (GRCm39)	M642V	probably damaging	Het
Dhh	T	A	15: 98,795,757 (GRCm39)	R133*	probably null	Het
Dnmt3b	G	A	2: 153,507,980 (GRCm39)	V212M	probably benign	Het
Dync2li1	A	G	17: 84,957,137 (GRCm39)	S301G	probably benign	Het
Epas1	A	C	17: 87,133,990 (GRCm39)	I500L	possibly damaging	Het
Ephb4	A	T	5: 137,352,824 (GRCm39)	I136F	possibly damaging	Het
Foxg1	T	C	12: 49,431,320 (GRCm39)	F18L	unknown	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gpld1	A	T	13: 25,136,900 (GRCm39)	S73C	probably damaging	Het
Hddc3	A	G	7: 79,993,328 (GRCm39)	I52V	probably benign	Het
Hmgcll1	A	T	9: 75,991,732 (GRCm39)	T252S	probably damaging	Het
Igsf10	G	A	3: 59,243,843 (GRCm39)	R164W	probably damaging	Het
Jph2	A	G	2: 163,180,606 (GRCm39)	V675A	probably benign	Het
Kifap3	T	C	1: 163,689,666 (GRCm39)	F550S	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Kplce	C	T	3: 92,775,951 (GRCm39)	G244D	probably benign	Het
L1td1	T	C	4: 98,625,932 (GRCm39)	V643A	possibly damaging	Het
L3mbtl3	C	T	10: 26,212,155 (GRCm39)	M255I	unknown	Het
Layn	T	A	9: 50,968,837 (GRCm39)	D302V	probably damaging	Het
Lpcat4	A	G	2: 112,072,418 (GRCm39)	I136V	possibly damaging	Het
Lrp1	T	A	10: 127,382,807 (GRCm39)	D3658V	probably damaging	Het
Metap1d	T	C	2: 71,352,900 (GRCm39)	L243S	possibly damaging	Het
Midn	T	A	10: 79,990,275 (GRCm39)	H315Q	probably damaging	Het
Mtrex	A	T	13: 113,050,888 (GRCm39)		probably null	Het
Myb	C	T	10: 21,030,612 (GRCm39)	D62N	probably benign	Het
Myh2	T	C	11: 67,077,522 (GRCm39)	S886P	probably benign	Het
Nemf	T	C	12: 69,388,093 (GRCm39)	I396V	probably damaging	Het
Nemp1	T	G	10: 127,525,227 (GRCm39)	V127G	possibly damaging	Het
Nkx3-1	C	T	14: 69,428,227 (GRCm39)	T25M	possibly damaging	Het
Nmral1	A	C	16: 4,531,631 (GRCm39)	L208R	probably damaging	Het
Nol6	A	T	4: 41,116,422 (GRCm39)	I989N	probably benign	Het
Or12e7	T	A	2: 87,287,907 (GRCm39)	C133S	possibly damaging	Het
Palld	A	T	8: 62,173,571 (GRCm39)	S363T	probably damaging	Het
Pcdha11	A	G	18: 37,144,512 (GRCm39)	D201G	probably damaging	Het
Per2	A	G	1: 91,366,081 (GRCm39)	C339R	probably damaging	Het
Phactr4	T	C	4: 132,097,874 (GRCm39)	T455A	possibly damaging	Het
Phc2	T	C	4: 128,617,062 (GRCm39)	I445T	probably damaging	Het
Pmepa1	T	C	2: 173,117,962 (GRCm39)	T6A	probably benign	Het
Polr1a	T	C	6: 71,931,755 (GRCm39)	F945L	probably damaging	Het
Ppp2r5e	T	A	12: 75,640,063 (GRCm39)	K13*	probably null	Het
Ptafr	T	C	4: 132,306,613 (GRCm39)	M1T	probably null	Het
Rbms1	G	A	2: 60,610,087 (GRCm39)	P208S	probably benign	Het
Scg3	T	A	9: 75,558,955 (GRCm39)	I419F	probably damaging	Het
Scn1a	T	C	2: 66,130,099 (GRCm39)	T219A	probably benign	Het
Sec14l4	A	G	11: 3,989,977 (GRCm39)	D92G	probably damaging	Het
Senp3	G	T	11: 69,569,085 (GRCm39)	Q359K	probably damaging	Het
Sirt1	T	C	10: 63,172,857 (GRCm39)	D142G	probably damaging	Het
Skint2	T	C	4: 112,483,039 (GRCm39)	M148T	possibly damaging	Het
Slc30a10	T	A	1: 185,187,391 (GRCm39)	M44K	probably damaging	Het
Snai2	T	A	16: 14,524,792 (GRCm39)	D99E	probably damaging	Het
Spg7	A	G	8: 123,807,408 (GRCm39)	K395E	possibly damaging	Het
Sphk2	G	A	7: 45,360,337 (GRCm39)	H556Y	possibly damaging	Het
Supt6	A	C	11: 78,116,612 (GRCm39)	F637L	probably benign	Het
Tcam1	A	G	11: 106,177,292 (GRCm39)	N428S	probably damaging	Het
Tctn3	C	T	19: 40,596,692 (GRCm39)	R276K	probably benign	Het
Timm29	G	A	9: 21,504,656 (GRCm39)	R108H	probably damaging	Het
Tlr9	A	T	9: 106,102,752 (GRCm39)	E681V	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tns3	T	C	11: 8,400,094 (GRCm39)	K1169E	probably damaging	Het
Trim72	A	C	7: 127,608,315 (GRCm39)	D271A	possibly damaging	Het
Trpv4	A	T	5: 114,772,622 (GRCm39)	D369E	probably benign	Het
Ttn	A	G	2: 76,583,192 (GRCm39)	L22567P	probably damaging	Het
Uimc1	G	A	13: 55,223,652 (GRCm39)	P207S	probably damaging	Het
Unc5d	A	T	8: 29,165,448 (GRCm39)	V781E	probably damaging	Het
Upk3bl	C	T	5: 136,086,076 (GRCm39)	P4L	unknown	Het
Vmn1r201	A	G	13: 22,659,670 (GRCm39)	N295D	probably benign	Het
Vmn2r69	A	G	7: 85,064,697 (GRCm39)	I63T	probably benign	Het
Zfyve28	T	C	5: 34,374,788 (GRCm39)	T409A	probably benign	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
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
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'- GGATTGCAAACATGTGGGAATTTG -3'
(R):5'- TTACCTGTTACTATTCAGAGGGAC -3'

Sequencing Primer
(F):5'- AAAAACAATTCCGTTCCTTAGGG -3'
(R):5'- CCTGTTACTATTCAGAGGGACTAATG -3'

Posted On

2022-02-07