Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Cd109'

18101

Institutional Source

Beutler Lab

Gene Symbol

Cd109

Ensembl Gene

ENSMUSG00000046186

Gene Name

CD109 antigen

Synonyms

Gov platelet alloantigens, 9930012E15Rik

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

78522828-78623535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78610389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1145 (E1145K)

Ref Sequence

ENSEMBL: ENSMUSP00000091330 (fasta)

Gene Model

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

AlphaFold

Q8R422

Predicted Effect

probably damaging
Transcript: ENSMUST00000093812
AA Change: E1145K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091330
Gene: ENSMUSG00000046186
AA Change: E1145K

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

Meta Mutation Damage Score

0.8386

Coding Region Coverage

1x: 90.4%
3x: 88.3%
10x: 83.8%
20x: 78.1%

Validation Efficiency

94% (74/79)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,273,595 (GRCm39)		noncoding transcript	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Adam34	A	T	8: 44,128,920 (GRCm39)		probably benign	Het
Ankrd60	A	T	2: 173,414,406 (GRCm39)	M1K	probably null	Het
Cald1	T	C	6: 34,692,394 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep135	A	T	5: 76,769,197 (GRCm39)	I616F	probably benign	Het
Cep162	T	A	9: 87,119,878 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Cep85	T	C	4: 133,894,611 (GRCm39)	D65G	probably damaging	Het
Cfdp1	T	C	8: 112,566,986 (GRCm39)		probably benign	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Crxos	A	G	7: 15,632,448 (GRCm39)	T40A	possibly damaging	Het
Dnhd1	A	G	7: 105,317,721 (GRCm39)	D472G	probably damaging	Het
Dpp6	C	A	5: 27,803,817 (GRCm39)	N254K	probably damaging	Het
Eps8l3	T	C	3: 107,786,857 (GRCm39)	L11S	probably damaging	Het
Flad1	G	A	3: 89,309,552 (GRCm39)	R515*	probably null	Het
Fzd5	T	C	1: 64,774,835 (GRCm39)	T309A	probably benign	Het
Gm19685	T	C	17: 61,075,418 (GRCm39)			Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
H2bc1	A	T	13: 24,117,928 (GRCm39)	I71N	possibly damaging	Het
Incenp	A	G	19: 9,862,823 (GRCm39)		probably benign	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Kat2b	T	C	17: 53,961,571 (GRCm39)	V557A	probably damaging	Het
Lamc1	A	T	1: 153,117,614 (GRCm39)		probably benign	Het
Lgi4	G	A	7: 30,762,996 (GRCm39)	G157D	probably damaging	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Nubpl	T	C	12: 52,357,470 (GRCm39)		probably benign	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Or8c20	C	T	9: 38,260,808 (GRCm39)	S143F	probably benign	Het
Peak1	A	T	9: 56,135,107 (GRCm39)	I78K	probably damaging	Het
Prune2	T	A	19: 16,981,097 (GRCm39)	F85I	probably damaging	Het
Rbm11	G	T	16: 75,395,667 (GRCm39)	D113Y	probably damaging	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Slf2	G	T	19: 44,936,443 (GRCm39)	G696V	probably damaging	Het
Suv39h2	T	C	2: 3,465,953 (GRCm39)	Y134C	probably damaging	Het
Tmem273	C	A	14: 32,528,726 (GRCm39)		probably benign	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Usp6nl	T	A	2: 6,445,701 (GRCm39)	D559E	probably benign	Het
Wdr75	A	G	1: 45,855,777 (GRCm39)	D476G	probably benign	Het
Wrap53	A	C	11: 69,454,256 (GRCm39)	L261V	possibly damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	possibly 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
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

2013-03-25