Mutagenetix > Incidental Mutation

Incidental Mutation 'R8479:Cd109'

657431

Institutional Source

Beutler Lab

Gene Symbol

Cd109

Ensembl Gene

ENSMUSG00000046186

Gene Name

CD109 antigen

Synonyms

Gov platelet alloantigens, 9930012E15Rik

MMRRC Submission

067923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8479 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78522828-78623535 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 78574628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 537 (Y537*)

Ref Sequence

ENSEMBL: ENSMUSP00000091330 (fasta)

Gene Model

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

AlphaFold

Q8R422

Predicted Effect

probably null
Transcript: ENSMUST00000093812
AA Change: Y537*

SMART Domains

Protein: ENSMUSP00000091330
Gene: ENSMUSG00000046186
AA Change: Y537*

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: 99.4%

Validation Efficiency

100% (52/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,061 (GRCm39)	H241Y	probably benign	Het
Afg3l2	C	T	18: 67,581,986 (GRCm39)	G29D	probably benign	Het
Ano2	T	C	6: 125,689,123 (GRCm39)	S52P	possibly damaging	Het
Atp11a	A	T	8: 12,892,932 (GRCm39)	E641V	possibly damaging	Het
Atp6v1d	T	C	12: 78,896,520 (GRCm39)	T116A	probably benign	Het
Cacna2d2	T	C	9: 107,403,596 (GRCm39)		probably null	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cntnap2	C	T	6: 46,736,707 (GRCm39)	A711V	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Crhbp	A	G	13: 95,578,632 (GRCm39)	V163A	possibly damaging	Het
Crmp1	C	A	5: 37,441,502 (GRCm39)	P414Q	possibly damaging	Het
Cse1l	G	A	2: 166,763,893 (GRCm39)	E78K	possibly damaging	Het
Ctnna2	A	G	6: 77,735,573 (GRCm39)	V35A	probably damaging	Het
Ddx1	T	A	12: 13,270,749 (GRCm39)	N654I	probably damaging	Het
Dido1	A	T	2: 180,315,022 (GRCm39)		probably null	Het
Dmtf1	C	T	5: 9,170,428 (GRCm39)	V630I	probably damaging	Het
Ercc6	T	C	14: 32,248,363 (GRCm39)	S305P	probably benign	Het
Ercc6l2	T	A	13: 63,972,629 (GRCm39)	S37T	possibly damaging	Het
Ess2	T	C	16: 17,728,805 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,419,862 (GRCm39)	M138T	probably damaging	Het
Galnt9	T	C	5: 110,692,617 (GRCm39)	V17A	probably benign	Het
Gm7324	T	C	14: 43,952,220 (GRCm39)	S288P	probably benign	Het
Gucy2e	G	A	11: 69,123,789 (GRCm39)	A370V	probably benign	Het
H2-T13	G	A	17: 36,395,111 (GRCm39)	A2V	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Ipo7	G	A	7: 109,638,452 (GRCm39)	V240I	probably benign	Het
Lrrc4c	A	G	2: 97,459,977 (GRCm39)	Y201C	probably damaging	Het
Ly6g2	A	G	15: 75,089,626 (GRCm39)	T45A	probably damaging	Het
Mapkap1	A	T	2: 34,471,302 (GRCm39)	S389C	probably damaging	Het
Met	G	T	6: 17,491,746 (GRCm39)		probably null	Het
Misp	T	C	10: 79,663,750 (GRCm39)	F575L	possibly damaging	Het
Mtmr11	T	C	3: 96,071,051 (GRCm39)	L136P	probably damaging	Het
Muc4	C	T	16: 32,574,799 (GRCm39)	T1128M	possibly damaging	Het
Nfyc	A	T	4: 120,626,089 (GRCm39)	V70E	probably damaging	Het
Nphp4	T	C	4: 152,608,747 (GRCm39)	S452P	probably benign	Het
Oasl2	T	A	5: 115,035,852 (GRCm39)	F43I	probably damaging	Het
Or10ak11	A	G	4: 118,687,212 (GRCm39)	C141R	probably damaging	Het
Or5g25	A	G	2: 85,478,447 (GRCm39)	S73P	probably damaging	Het
Pros1	G	T	16: 62,728,102 (GRCm39)	G269W	probably damaging	Het
Rif1	A	C	2: 52,002,563 (GRCm39)	S2006R	possibly damaging	Het
Ror2	G	T	13: 53,271,400 (GRCm39)	N306K	probably damaging	Het
Rragd	C	T	4: 33,018,734 (GRCm39)	A379V	probably benign	Het
Slc10a2	C	T	8: 5,148,443 (GRCm39)		probably null	Het
Susd3	C	T	13: 49,390,952 (GRCm39)	G113S	probably benign	Het
Tbc1d19	T	A	5: 54,041,031 (GRCm39)	M371K	possibly damaging	Het
Tnn	C	A	1: 159,950,397 (GRCm39)	R736S	probably benign	Het
Trio	T	C	15: 27,901,286 (GRCm39)	T323A	probably benign	Het
Ubqln1	G	A	13: 58,339,653 (GRCm39)	P324S	probably benign	Het
Uspl1	T	C	5: 149,152,004 (GRCm39)	L1068P	probably damaging	Het
Vmn2r86	A	T	10: 130,282,735 (GRCm39)	I627N	probably damaging	Het
Wdr35	C	A	12: 9,035,985 (GRCm39)	T252K	probably benign	Het
Zfp62	T	C	11: 49,107,319 (GRCm39)	I470T	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
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'- CCTGTAAAGAGGTTGTGAAGATAAC -3'
(R):5'- GTTTCCCAGCAATGTGGATAAC -3'

Sequencing Primer
(F):5'- GGTAATATCAAAGGGACAGTTG -3'
(R):5'- CCCAGCAATGTGGATAACTGATTC -3'

Posted On

2021-01-18