Mutagenetix > Incidental Mutation

Incidental Mutation 'R4527:Cd109'

384573

Institutional Source

Beutler Lab

Gene Symbol

Cd109

Ensembl Gene

ENSMUSG00000046186

Gene Name

CD109 antigen

Synonyms

Gov platelet alloantigens, 9930012E15Rik

MMRRC Submission

041768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4527 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

78615546-78716253 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

CATTTATTTATTTATTTATTTATTTATTTATTTAT to CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT at 78712500 bp (GRCm38)

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: 97.1%
20x: 94.9%

Validation Efficiency

100% (40/40)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agfg2	A	G	5: 137,684,536 (GRCm38)	V15A	unknown	Het
Asb3	A	G	11: 31,058,933 (GRCm38)	D278G	probably benign	Het
Atrn	T	C	2: 130,973,504 (GRCm38)	I780T	probably benign	Het
Car2	C	T	3: 14,898,005 (GRCm38)	P200L	probably damaging	Het
Cars1	A	T	7: 143,565,049 (GRCm38)	M668K	probably benign	Het
Cer1	A	G	4: 82,884,669 (GRCm38)	F139L	possibly damaging	Het
Crhr2	T	A	6: 55,132,853 (GRCm38)		probably benign	Het
Dnah7c	G	A	1: 46,532,931 (GRCm38)	E855K	probably benign	Het
Espn	C	T	4: 152,135,649 (GRCm38)	R339Q	probably damaging	Het
Flt3	T	A	5: 147,356,353 (GRCm38)	E481V	probably benign	Het
Gorab	T	G	1: 163,397,136 (GRCm38)	K32T	possibly damaging	Het
Mak16	G	A	8: 31,166,177 (GRCm38)	Q93*	probably null	Het
Muc4	T	C	16: 32,755,843 (GRCm38)		probably benign	Het
Neb	A	T	2: 52,193,237 (GRCm38)	I5409N	probably benign	Het
Olfm4	C	T	14: 80,021,224 (GRCm38)	S304F	probably benign	Het
Pask	A	G	1: 93,320,502 (GRCm38)	F1026L	probably benign	Het
Rab11a	A	G	9: 64,725,568 (GRCm38)	S19P	probably benign	Het
Rab11fip3	T	C	17: 26,036,657 (GRCm38)	D541G	probably damaging	Het
Rnf10	T	C	5: 115,260,151 (GRCm38)	S108G	probably damaging	Het
Rps4l-ps	C	T	7: 114,927,168 (GRCm38)		noncoding transcript	Het
Shank1	A	T	7: 44,354,590 (GRCm38)	H1902L	possibly damaging	Het
Slc8a3	T	C	12: 81,315,853 (GRCm38)	Y64C	probably damaging	Het
Sorbs3	A	C	14: 70,207,617 (GRCm38)	I4S	probably damaging	Het
St18	A	G	1: 6,855,423 (GRCm38)	N935S	probably damaging	Het
Taf4b	T	C	18: 14,821,442 (GRCm38)	V525A	probably damaging	Het
Timm10b	A	G	7: 105,682,806 (GRCm38)	N828S	probably benign	Het
Ttyh1	A	T	7: 4,119,764 (GRCm38)	D4V	probably damaging	Het
Usp34	T	A	11: 23,421,257 (GRCm38)	L53Q	possibly damaging	Het
Usp5	C	G	6: 124,822,630 (GRCm38)	K318N	possibly damaging	Het
Vmn2r70	A	T	7: 85,559,579 (GRCm38)	N563K	probably damaging	Het
Xrcc5	C	A	1: 72,312,500 (GRCm38)	N76K	probably damaging	Het
Zscan25	T	C	5: 145,283,458 (GRCm38)	V21A	probably damaging	Het

Other mutations in Cd109

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Cd109	APN	9	78,616,969 (GRCm38)	missense	probably damaging	1.00
IGL00465:Cd109	APN	9	78,660,934 (GRCm38)	nonsense	probably null
IGL00667:Cd109	APN	9	78,684,877 (GRCm38)	missense	probably damaging	0.99
IGL01432:Cd109	APN	9	78,698,123 (GRCm38)	missense	probably benign
IGL01795:Cd109	APN	9	78,661,765 (GRCm38)	splice site	probably benign
IGL02343:Cd109	APN	9	78,688,955 (GRCm38)	splice site	probably benign
IGL02450:Cd109	APN	9	78,695,850 (GRCm38)	missense	possibly damaging	0.83
IGL02699:Cd109	APN	9	78,671,989 (GRCm38)	splice site	probably benign
IGL02738:Cd109	APN	9	78,691,299 (GRCm38)	missense	probably damaging	1.00
IGL02797:Cd109	APN	9	78,661,713 (GRCm38)	missense	probably damaging	0.96
IGL03160:Cd109	APN	9	78,661,056 (GRCm38)	splice site	probably null
IGL03349:Cd109	APN	9	78,636,485 (GRCm38)	missense	probably benign	0.34
FR4589:Cd109	UTSW	9	78,712,529 (GRCm38)	critical splice acceptor site	probably benign
R0048:Cd109	UTSW	9	78,680,021 (GRCm38)	missense	possibly damaging	0.50
R0060:Cd109	UTSW	9	78,703,107 (GRCm38)	missense	probably damaging	1.00
R0060:Cd109	UTSW	9	78,703,107 (GRCm38)	missense	probably damaging	1.00
R0158:Cd109	UTSW	9	78,688,932 (GRCm38)	missense	possibly damaging	0.49
R0415:Cd109	UTSW	9	78,712,615 (GRCm38)	missense	probably benign	0.13
R0659:Cd109	UTSW	9	78,680,170 (GRCm38)	splice site	probably benign
R0709:Cd109	UTSW	9	78,671,978 (GRCm38)	missense	possibly damaging	0.93
R0840:Cd109	UTSW	9	78,664,330 (GRCm38)	missense	probably benign	0.04
R0909:Cd109	UTSW	9	78,636,473 (GRCm38)	missense	probably benign	0.01
R0945:Cd109	UTSW	9	78,688,941 (GRCm38)	missense	possibly damaging	0.51
R1344:Cd109	UTSW	9	78,672,550 (GRCm38)	critical splice acceptor site	probably null
R1471:Cd109	UTSW	9	78,654,587 (GRCm38)	missense	probably damaging	1.00
R1484:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R1570:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R1688:Cd109	UTSW	9	78,705,091 (GRCm38)	missense	probably benign	0.17
R1773:Cd109	UTSW	9	78,703,724 (GRCm38)	missense	probably benign	0.21
R1813:Cd109	UTSW	9	78,617,005 (GRCm38)	missense	probably benign	0.04
R2004:Cd109	UTSW	9	78,703,762 (GRCm38)	missense	probably benign	0.00
R2083:Cd109	UTSW	9	78,667,293 (GRCm38)	missense	probably damaging	1.00
R2483:Cd109	UTSW	9	78,667,357 (GRCm38)	missense	probably damaging	1.00
R2857:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R2858:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R2859:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R2911:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R2912:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R2914:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R2927:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R3623:Cd109	UTSW	9	78,667,357 (GRCm38)	missense	probably damaging	1.00
R3713:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R3760:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R3762:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R3771:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R3772:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R3773:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R3916:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R3917:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4117:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4260:Cd109	UTSW	9	78,636,463 (GRCm38)	missense	possibly damaging	0.67
R4387:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4389:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4526:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4528:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4700:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4708:Cd109	UTSW	9	78,672,589 (GRCm38)	missense	probably benign	0.00
R4723:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4750:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4751:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4754:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4755:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4773:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R4984:Cd109	UTSW	9	78,634,677 (GRCm38)	critical splice donor site	probably null
R5259:Cd109	UTSW	9	78,710,152 (GRCm38)	missense	probably benign	0.30
R5353:Cd109	UTSW	9	78,710,239 (GRCm38)	missense	probably damaging	1.00
R5440:Cd109	UTSW	9	78,680,164 (GRCm38)	critical splice donor site	probably null
R5559:Cd109	UTSW	9	78,660,968 (GRCm38)	missense	probably benign	0.01
R5701:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R5995:Cd109	UTSW	9	78,700,279 (GRCm38)	missense	probably benign	0.01
R5997:Cd109	UTSW	9	78,705,062 (GRCm38)	missense	possibly damaging	0.93
R6103:Cd109	UTSW	9	78,698,314 (GRCm38)	splice site	probably null
R6174:Cd109	UTSW	9	78,665,546 (GRCm38)	critical splice donor site	probably null
R6410:Cd109	UTSW	9	78,657,516 (GRCm38)	missense	probably benign	0.01
R6529:Cd109	UTSW	9	78,712,625 (GRCm38)	missense	probably damaging	1.00
R6655:Cd109	UTSW	9	78,684,938 (GRCm38)	missense	probably benign	0.44
R6704:Cd109	UTSW	9	78,680,075 (GRCm38)	missense	probably benign	0.01
R6772:Cd109	UTSW	9	78,680,810 (GRCm38)	missense	possibly damaging	0.55
R6817:Cd109	UTSW	9	78,714,955 (GRCm38)	missense	probably benign	0.01
R6903:Cd109	UTSW	9	78,636,603 (GRCm38)	missense	probably damaging	0.97
R7294:Cd109	UTSW	9	78,712,635 (GRCm38)	missense	probably damaging	0.97
R7432:Cd109	UTSW	9	78,714,943 (GRCm38)	missense	possibly damaging	0.85
R7566:Cd109	UTSW	9	78,680,837 (GRCm38)	missense	probably damaging	1.00
R7767:Cd109	UTSW	9	78,710,159 (GRCm38)	missense	probably damaging	1.00
R7986:Cd109	UTSW	9	78,688,766 (GRCm38)	missense	possibly damaging	0.95
R8017:Cd109	UTSW	9	78,707,546 (GRCm38)	missense	possibly damaging	0.81
R8019:Cd109	UTSW	9	78,707,546 (GRCm38)	missense	possibly damaging	0.81
R8050:Cd109	UTSW	9	78,664,351 (GRCm38)	missense	probably benign	0.28
R8225:Cd109	UTSW	9	78,661,690 (GRCm38)	missense	probably damaging	0.99
R8269:Cd109	UTSW	9	78,665,682 (GRCm38)	missense	probably benign	0.06
R8479:Cd109	UTSW	9	78,667,346 (GRCm38)	nonsense	probably null
R8493:Cd109	UTSW	9	78,657,519 (GRCm38)	missense	probably benign	0.41
R8781:Cd109	UTSW	9	78,636,647 (GRCm38)	missense	probably damaging	1.00
R8977:Cd109	UTSW	9	78,707,528 (GRCm38)	missense	probably benign	0.36
R9051:Cd109	UTSW	9	78,712,531 (GRCm38)	critical splice acceptor site	probably benign
R9051:Cd109	UTSW	9	78,712,500 (GRCm38)	critical splice acceptor site	probably benign
R9228:Cd109	UTSW	9	78,669,760 (GRCm38)	missense	possibly damaging	0.93
R9366:Cd109	UTSW	9	78,714,993 (GRCm38)	missense	probably benign	0.11
R9430:Cd109	UTSW	9	78,667,416 (GRCm38)	critical splice donor site	probably null
R9572:Cd109	UTSW	9	78,660,306 (GRCm38)	missense	probably benign	0.16
R9691:Cd109	UTSW	9	78,703,792 (GRCm38)	missense	possibly damaging	0.94
R9736:Cd109	UTSW	9	78,712,636 (GRCm38)	missense	probably damaging	1.00
R9749:Cd109	UTSW	9	78,684,884 (GRCm38)	missense	probably damaging	1.00
R9751:Cd109	UTSW	9	78,698,160 (GRCm38)	missense	probably damaging	0.99
R9752:Cd109	UTSW	9	78,707,552 (GRCm38)	missense	probably benign	0.00
R9789:Cd109	UTSW	9	78,634,662 (GRCm38)	missense	possibly damaging	0.90
R9797:Cd109	UTSW	9	78,671,935 (GRCm38)	missense	probably benign	0.04
RF002:Cd109	UTSW	9	78,712,528 (GRCm38)	critical splice acceptor site	probably benign
RF002:Cd109	UTSW	9	78,712,523 (GRCm38)	critical splice acceptor site	probably benign
RF003:Cd109	UTSW	9	78,712,531 (GRCm38)	critical splice acceptor site	probably benign
RF011:Cd109	UTSW	9	78,712,528 (GRCm38)	critical splice acceptor site	probably benign
RF013:Cd109	UTSW	9	78,712,531 (GRCm38)	critical splice acceptor site	probably benign
RF047:Cd109	UTSW	9	78,712,527 (GRCm38)	critical splice acceptor site	probably benign
RF060:Cd109	UTSW	9	78,712,525 (GRCm38)	critical splice acceptor site	probably benign
Z1177:Cd109	UTSW	9	78,691,313 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAGCATCCCTTTAGTAGACGG -3'
(R):5'- GCCTGCCTTGATTCCCAAAG -3'

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

Posted On

2016-05-06