Mutagenetix > Incidental Mutation

Incidental Mutation 'R2914:Cd109'

254810

Institutional Source

Beutler Lab

Gene Symbol

Cd109

Ensembl Gene

ENSMUSG00000046186

Gene Name

CD109 antigen

Synonyms

Gov platelet alloantigens, 9930012E15Rik

MMRRC Submission

040501-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2914 (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: 97.4%
20x: 95.5%

Validation Efficiency

100% (41/41)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	A	G	5: 30,401,992 (GRCm39)	S679P	probably damaging	Het
Cryl1	T	C	14: 57,513,375 (GRCm39)	E282G	probably benign	Het
Dbn1	A	G	13: 55,630,234 (GRCm39)	F45L	probably damaging	Het
Dclre1b	T	C	3: 103,715,430 (GRCm39)	M105V	probably damaging	Het
Defb12	T	C	8: 19,164,830 (GRCm39)	N3D	probably benign	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Fa2h	T	C	8: 112,120,281 (GRCm39)	D35G	probably damaging	Het
Fdxacb1	C	T	9: 50,679,699 (GRCm39)	A39V	probably benign	Het
Fras1	G	A	5: 96,881,774 (GRCm39)	R2502K	probably benign	Het
Grm1	A	G	10: 10,955,601 (GRCm39)	S228P	probably benign	Het
Il27ra	T	A	8: 84,758,242 (GRCm39)		probably benign	Het
Lrrtm1	A	T	6: 77,221,962 (GRCm39)	Q473L	probably damaging	Het
Macf1	T	A	4: 123,369,704 (GRCm39)	I121F	probably damaging	Het
Mael	A	T	1: 166,054,179 (GRCm39)	F188I	probably damaging	Het
Mapk4	C	T	18: 74,068,236 (GRCm39)	A232T	probably benign	Het
Mrpl9	C	A	3: 94,351,108 (GRCm39)	T96K	probably damaging	Het
Musk	C	A	4: 58,366,938 (GRCm39)	L511I	probably damaging	Het
Mutyh	G	A	4: 116,672,826 (GRCm39)	D60N	probably damaging	Het
Nckap5	A	T	1: 125,954,274 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,578,670 (GRCm39)		probably benign	Het
Otud7b	C	A	3: 96,063,272 (GRCm39)	A837E	probably benign	Het
Pigb	A	T	9: 72,947,060 (GRCm39)		probably null	Het
Pip4k2b	G	T	11: 97,613,260 (GRCm39)	N245K	probably benign	Het
Ptprd	T	A	4: 75,865,338 (GRCm39)	D1464V	probably damaging	Het
Rab22a	A	G	2: 173,537,074 (GRCm39)	N98S	probably benign	Het
Rictor	G	T	15: 6,799,476 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,844,711 (GRCm39)	E32G	probably damaging	Het
Slx4ip	A	G	2: 136,909,511 (GRCm39)		probably null	Het
Snx19	G	A	9: 30,344,828 (GRCm39)		probably benign	Het
Snx29	C	T	16: 11,265,317 (GRCm39)	R516W	probably damaging	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Tmod1	A	T	4: 46,092,259 (GRCm39)	N203I	probably damaging	Het
Tmprss15	T	C	16: 78,759,078 (GRCm39)	N880S	probably benign	Het
Ttn	A	T	2: 76,599,979 (GRCm39)	I19065N	probably damaging	Het
Txk	T	C	5: 72,881,794 (GRCm39)	N154S	probably damaging	Het
Utp20	A	G	10: 88,590,337 (GRCm39)		probably null	Het
Vmn1r65	T	A	7: 6,012,040 (GRCm39)	I65F	possibly damaging	Het
Yes1	T	C	5: 32,797,926 (GRCm39)	S82P	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
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

Predicted Primers

PCR Primer
(F):5'- TCCCTTTAGTAGACGGGGAC -3'
(R):5'- AATGCCTGCCTTGATTCCCAAAG -3'

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

Posted On

2014-12-29