Mutagenetix > Incidental Mutation

Incidental Mutation 'R4750:Cd109'

401875

Institutional Source

Beutler Lab

Gene Symbol

Cd109

Ensembl Gene

ENSMUSG00000046186

Gene Name

CD109 antigen

Synonyms

Gov platelet alloantigens, 9930012E15Rik

MMRRC Submission

042031-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4750 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

78522828-78623535 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

CATTTATTTATTTATTTATTTATTTATTTATTTAT to CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT at 78619782 bp (GRCm39)

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

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (89/92)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,025,945 (GRCm39)	L155Q	probably damaging	Het
Aadac	T	C	3: 59,943,238 (GRCm39)	F48L	probably benign	Het
Aadat	T	A	8: 60,979,634 (GRCm39)	N165K	probably benign	Het
Acan	C	A	7: 78,742,466 (GRCm39)	D557E	probably damaging	Het
Adamts4	T	A	1: 171,078,635 (GRCm39)	V85D	probably benign	Het
Agt	A	G	8: 125,283,676 (GRCm39)	V481A	probably benign	Het
Angpt1	T	C	15: 42,539,797 (GRCm39)	N21D	probably benign	Het
Ankrd52	A	C	10: 128,213,958 (GRCm39)	D38A	probably damaging	Het
Ap1g2	G	T	14: 55,341,822 (GRCm39)	Q247K	probably damaging	Het
Apaf1	T	C	10: 90,896,050 (GRCm39)	R341G	probably damaging	Het
Arf2	T	C	11: 103,870,585 (GRCm39)		probably null	Het
Arhgef1	A	G	7: 24,618,001 (GRCm39)		probably benign	Het
Bbln	C	T	2: 32,269,425 (GRCm39)		probably null	Het
Bbox1	T	A	2: 110,095,866 (GRCm39)	Y366F	possibly damaging	Het
Bmp3	A	G	5: 99,020,417 (GRCm39)	E280G	possibly damaging	Het
Cdh12	T	A	15: 21,583,894 (GRCm39)	V578D	possibly damaging	Het
Cdk19	T	C	10: 40,352,195 (GRCm39)	S282P	probably damaging	Het
Cfap46	A	G	7: 139,259,239 (GRCm39)		probably null	Het
Cfhr3	T	A	1: 139,512,566 (GRCm39)		noncoding transcript	Het
Ctrc	T	A	4: 141,568,834 (GRCm39)	Y123F	probably benign	Het
Dync2i2	T	C	2: 29,923,932 (GRCm39)	T198A	probably benign	Het
Enpp4	A	G	17: 44,413,246 (GRCm39)	M96T	probably damaging	Het
Exosc10	T	A	4: 148,646,851 (GRCm39)	S154T	possibly damaging	Het
Fbxo21	G	A	5: 118,138,533 (GRCm39)	R486H	probably benign	Het
Foxj3	C	A	4: 119,473,787 (GRCm39)	A204E	probably damaging	Het
Gas6	T	G	8: 13,526,227 (GRCm39)	D237A	probably benign	Het
Gimap8	A	G	6: 48,627,361 (GRCm39)	S112G	probably benign	Het
Gm4787	T	C	12: 81,425,141 (GRCm39)	N339S	possibly damaging	Het
Gm6185	T	C	1: 161,009,933 (GRCm39)		noncoding transcript	Het
Gramd2b	A	G	18: 56,565,372 (GRCm39)	E9G	probably benign	Het
Hmgxb3	A	T	18: 61,300,568 (GRCm39)	D169E	probably benign	Het
Isl2	T	A	9: 55,451,596 (GRCm39)	V162D	probably benign	Het
Kcns3	T	A	12: 11,141,655 (GRCm39)	D348V	probably damaging	Het
Kcp	G	A	6: 29,484,625 (GRCm39)	P1318S	probably benign	Het
Kif12	T	A	4: 63,086,020 (GRCm39)	Q415L	probably damaging	Het
Lama3	T	A	18: 12,637,416 (GRCm39)	H45Q	probably benign	Het
Lonp2	A	T	8: 87,358,130 (GRCm39)	K117M	probably benign	Het
Loxl4	T	A	19: 42,593,443 (GRCm39)	N243Y	probably damaging	Het
Lrif1	C	A	3: 106,642,880 (GRCm39)	Q662K	probably benign	Het
Lrrc37a	T	A	11: 103,346,306 (GRCm39)	I3187L	probably benign	Het
Lsg1	A	G	16: 30,384,267 (GRCm39)	I521T	probably damaging	Het
Mecom	T	G	3: 30,011,679 (GRCm39)	K865Q	probably damaging	Het
Myh10	T	C	11: 68,676,140 (GRCm39)	I790T	probably damaging	Het
Nek7	C	T	1: 138,426,411 (GRCm39)	S234N	probably damaging	Het
Nepro	T	C	16: 44,550,545 (GRCm39)	L179P	probably damaging	Het
Nexn	A	G	3: 151,943,359 (GRCm39)	C649R	probably damaging	Het
Nsmf	T	C	2: 24,945,038 (GRCm39)	S34P	probably damaging	Het
Or10x1	A	G	1: 174,196,488 (GRCm39)	I2V	probably benign	Het
Or13n4	A	G	7: 106,423,514 (GRCm39)	F73S	probably damaging	Het
Or13p5	T	A	4: 118,591,930 (GRCm39)	V68D	possibly damaging	Het
Or1n2	T	A	2: 36,797,728 (GRCm39)	S257T	probably benign	Het
Or1p1c	T	A	11: 74,160,246 (GRCm39)	F10L	probably benign	Het
Or2w2	A	G	13: 21,757,913 (GRCm39)	S238P	possibly damaging	Het
Or52l1	A	T	7: 104,830,133 (GRCm39)	I144N	probably damaging	Het
Or5bw2	A	G	7: 6,573,850 (GRCm39)	I287V	probably benign	Het
Or5w16	C	T	2: 87,576,852 (GRCm39)	T104I	probably benign	Het
P2rx5	G	T	11: 73,055,703 (GRCm39)	K53N	probably damaging	Het
Pcdhb20	C	A	18: 37,639,184 (GRCm39)	A570E	possibly damaging	Het
Pip4k2c	T	C	10: 127,047,286 (GRCm39)	H32R	unknown	Het
Pkhd1	T	A	1: 20,594,336 (GRCm39)	D1259V	possibly damaging	Het
Plekha7	A	T	7: 115,736,546 (GRCm39)	V889E	probably damaging	Het
Polr2b	A	C	5: 77,479,886 (GRCm39)	E546D	possibly damaging	Het
Ppm1l	A	G	3: 69,456,661 (GRCm39)	T193A	probably damaging	Het
Ppp1r37	G	T	7: 19,265,445 (GRCm39)	D710E	probably benign	Het
Prdm4	A	G	10: 85,735,085 (GRCm39)	F679L	probably damaging	Het
Prkcd	A	G	14: 30,332,258 (GRCm39)	M1T	probably null	Het
Prss59	A	G	6: 40,897,955 (GRCm39)	W243R	probably damaging	Het
Rcor3	A	G	1: 191,814,749 (GRCm39)	Y77H	unknown	Het
Rdh5	T	C	10: 128,754,235 (GRCm39)	E66G	possibly damaging	Het
Slc12a5	A	G	2: 164,824,851 (GRCm39)	M396V	probably benign	Het
Slco5a1	T	G	1: 12,949,504 (GRCm39)	T629P	probably damaging	Het
Smarca5	A	C	8: 81,460,336 (GRCm39)	N133K	probably benign	Het
Spag5	T	C	11: 78,210,878 (GRCm39)	M927T	probably benign	Het
Spint4	A	T	2: 164,542,066 (GRCm39)	D39V	probably damaging	Het
Syt6	T	A	3: 103,538,233 (GRCm39)	*512R	probably null	Het
Tmem247	T	C	17: 87,229,770 (GRCm39)	C204R	probably damaging	Het
Tmem72	A	G	6: 116,672,395 (GRCm39)	Y149H	probably damaging	Het
Trpm6	T	C	19: 18,853,428 (GRCm39)	V1816A	probably damaging	Het
Usp35	A	G	7: 96,959,546 (GRCm39)	V1008A	possibly damaging	Het
Washc4	T	C	10: 83,426,916 (GRCm39)	S1075P	probably damaging	Het
Xylb	G	T	9: 119,188,379 (GRCm39)	G62*	probably null	Het
Zfp142	T	C	1: 74,611,617 (GRCm39)	E623G	probably damaging	Het
Zfp239	A	G	6: 117,848,700 (GRCm39)	Y146C	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
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

Predicted Primers

PCR Primer
(F):5'- AGCATCCCTTTAGTAGACGGG -3'
(R):5'- TGCCTGCCTTGATTCCCAAAG -3'

Sequencing Primer
(F):5'- GGGGACTAAGAACCATTCCTCTG -3'
(R):5'- GCCTTGATTCCCAAAGTCTTAGAAAC -3'

Posted On

2016-07-15