Mutagenetix > Incidental Mutation

Incidental Mutation 'R0158:Cd109'

22983

Institutional Source

Beutler Lab

Gene Symbol

Cd109

Ensembl Gene

ENSMUSG00000046186

Gene Name

CD109 antigen

Synonyms

Gov platelet alloantigens, 9930012E15Rik

MMRRC Submission

038438-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78522828-78623535 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78596214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 849 (Q849L)

Ref Sequence

ENSEMBL: ENSMUSP00000091330 (fasta)

Gene Model

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

AlphaFold

Q8R422

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093812
AA Change: Q849L

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091330
Gene: ENSMUSG00000046186
AA Change: Q849L

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

0.0885

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 89.1%

Validation Efficiency

93% (79/85)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,371,316 (GRCm39)	R437C	probably damaging	Het
Abhd3	A	G	18: 10,647,840 (GRCm39)	Y315H	possibly damaging	Het
Adam19	C	T	11: 46,033,861 (GRCm39)	P891L	probably damaging	Het
Ampd1	T	A	3: 102,999,046 (GRCm39)	Y400*	probably null	Het
Ap1g1	T	C	8: 110,582,267 (GRCm39)	S724P	probably benign	Het
Bst2	T	A	8: 71,989,861 (GRCm39)	T71S	possibly damaging	Het
C3	A	G	17: 57,531,851 (GRCm39)		probably null	Het
Cacna2d1	C	A	5: 16,566,815 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,213,709 (GRCm39)	H43Y	possibly damaging	Het
Ccdc71	T	G	9: 108,341,336 (GRCm39)	V383G	probably benign	Het
Cdkn2a	A	T	4: 89,195,004 (GRCm39)	H115Q	possibly damaging	Het
Ces1e	T	C	8: 93,946,057 (GRCm39)	E161G	probably benign	Het
Cggbp1	C	T	16: 64,676,201 (GRCm39)	S89L	possibly damaging	Het
Crocc	A	T	4: 140,769,553 (GRCm39)		probably benign	Het
Cspg4b	T	A	13: 113,505,687 (GRCm39)	L2272*	probably null	Het
Eef1akmt3	G	A	10: 126,869,142 (GRCm39)	Q111*	probably null	Het
Exoc7	T	C	11: 116,186,118 (GRCm39)	N361S	probably benign	Het
Fat2	G	T	11: 55,187,011 (GRCm39)	S1278R	probably benign	Het
Fbxo42	A	G	4: 140,927,640 (GRCm39)	N640S	probably benign	Het
Fbxw25	A	G	9: 109,483,720 (GRCm39)	V164A	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,917 (GRCm39)	I1848V	probably damaging	Het
Foxs1	T	C	2: 152,774,330 (GRCm39)	E241G	probably damaging	Het
Fras1	A	T	5: 96,924,493 (GRCm39)	I3645F	possibly damaging	Het
Gm14496	T	A	2: 181,639,206 (GRCm39)	V432E	probably benign	Het
H3c2	T	A	13: 23,936,693 (GRCm39)	C111S	probably damaging	Het
Herc1	T	A	9: 66,403,203 (GRCm39)	L4374*	probably null	Het
Ift122	T	C	6: 115,901,445 (GRCm39)		probably benign	Het
Itgav	C	A	2: 83,622,381 (GRCm39)	N654K	probably benign	Het
Itih5	T	C	2: 10,239,803 (GRCm39)		probably benign	Het
Jak2	C	A	19: 29,289,157 (GRCm39)	T1103K	probably benign	Het
Kcnc4	C	A	3: 107,365,920 (GRCm39)	C96F	probably benign	Het
Med13l	C	A	5: 118,880,514 (GRCm39)	S1202Y	unknown	Het
Mefv	T	C	16: 3,533,320 (GRCm39)	E317G	possibly damaging	Het
Ncoa2	T	C	1: 13,222,608 (GRCm39)	T1226A	probably benign	Het
Nktr	C	T	9: 121,579,757 (GRCm39)		probably benign	Het
Nudt5	G	A	2: 5,867,114 (GRCm39)	V61M	probably damaging	Het
Or51a39	C	T	7: 102,363,162 (GRCm39)	A153T	probably benign	Het
Pakap	A	G	4: 57,709,649 (GRCm39)	D198G	possibly damaging	Het
Pcdhb2	A	C	18: 37,430,283 (GRCm39)	Y752S	probably damaging	Het
Pcnx4	A	G	12: 72,603,076 (GRCm39)	D446G	probably benign	Het
Pnp2	G	A	14: 51,201,761 (GRCm39)	R249H	probably damaging	Het
Rgs3	A	T	4: 62,542,121 (GRCm39)	I32F	probably damaging	Het
Rnf139	A	G	15: 58,770,727 (GRCm39)	T251A	probably benign	Het
Rnf41	A	G	10: 128,274,104 (GRCm39)	E252G	probably damaging	Het
Rxfp2	T	A	5: 149,975,093 (GRCm39)	F220Y	probably benign	Het
Sdcbp	A	G	4: 6,379,042 (GRCm39)	D43G	possibly damaging	Het
Serpina3f	A	G	12: 104,183,267 (GRCm39)	D43G	probably damaging	Het
Sftpc	T	C	14: 70,758,887 (GRCm39)	K154R	probably null	Het
Simc1	A	G	13: 54,672,530 (GRCm39)	T293A	probably benign	Het
Skint6	A	T	4: 113,042,011 (GRCm39)		probably benign	Het
Slc6a15	T	C	10: 103,225,208 (GRCm39)		probably benign	Het
Spata31e2	T	G	1: 26,723,032 (GRCm39)	H716P	probably damaging	Het
Ston2	A	T	12: 91,707,376 (GRCm39)	I78N	probably damaging	Het
Taok3	T	C	5: 117,355,307 (GRCm39)		probably null	Het
Tent4b	G	A	8: 88,977,371 (GRCm39)	G391D	probably damaging	Het
Tiam1	C	T	16: 89,589,889 (GRCm39)		probably benign	Het
Tnfsf15	T	C	4: 63,648,229 (GRCm39)	H137R	possibly damaging	Het
Tpte	G	A	8: 22,817,755 (GRCm39)	R247H	possibly damaging	Het
Trim2	T	C	3: 84,117,476 (GRCm39)		probably benign	Het
Ulk1	A	T	5: 110,936,810 (GRCm39)		probably benign	Het
Utp4	T	G	8: 107,640,018 (GRCm39)	H442Q	probably null	Het
Vmn1r193	T	A	13: 22,403,798 (GRCm39)	I65F	probably damaging	Het
Vps54	A	T	11: 21,256,962 (GRCm39)	Q690L	probably damaging	Het
Ybx2	T	C	11: 69,831,145 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,568,993 (GRCm39)	G697D	possibly damaging	Het
Zfp202	C	T	9: 40,120,212 (GRCm39)	Q218*	probably null	Het
Zfp820	G	A	17: 22,038,800 (GRCm39)	T176I	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
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

Predicted Primers

PCR Primer
(F):5'- GCGATAGACGACACTTTACAGGAGAGC -3'
(R):5'- TGGACAGAGATCCAGATCCAAGGC -3'

Sequencing Primer
(F):5'- CTCATTGAGGAAAGTGACAGCTTTG -3'
(R):5'- CCCAGTGTAACACTATTTGTAGC -3'

Posted On

2013-04-16