Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02699:Cd109'

304085

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cd109

Ensembl Gene

ENSMUSG00000046186

Gene Name

CD109 antigen

Synonyms

Gov platelet alloantigens, 9930012E15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02699

Quality Score

Status

Chromosome

Chromosomal Location

78615546-78716253 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 78671989 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

Coding Region Coverage

Validation Efficiency

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
Adarb1	T	C	10: 77,322,019 (GRCm38)	D198G	probably benign	Het
Casq1	T	C	1: 172,219,696 (GRCm38)		probably benign	Het
Col15a1	T	G	4: 47,284,471 (GRCm38)		probably benign	Het
Ctdp1	T	C	18: 80,450,185 (GRCm38)	D365G	probably benign	Het
Daam1	T	C	12: 71,988,943 (GRCm38)	F971L	probably damaging	Het
Dalrd3	T	A	9: 108,570,889 (GRCm38)		probably benign	Het
Dnaaf5	T	C	5: 139,153,350 (GRCm38)		probably benign	Het
Efr3b	C	T	12: 3,983,391 (GRCm38)	V139I	probably benign	Het
Fbxo8	A	G	8: 56,590,188 (GRCm38)	T236A	possibly damaging	Het
Ighv1-12	C	A	12: 114,616,116 (GRCm38)	E29*	probably null	Het
Il17re	A	G	6: 113,468,919 (GRCm38)	D397G	probably damaging	Het
Ing5	A	G	1: 93,816,442 (GRCm38)	N157D	possibly damaging	Het
Ipo11	T	C	13: 106,889,397 (GRCm38)	E395G	possibly damaging	Het
Letm1	T	C	5: 33,745,148 (GRCm38)	E599G	possibly damaging	Het
Mansc1	T	C	6: 134,610,354 (GRCm38)	T287A	probably benign	Het
Med1	T	C	11: 98,180,025 (GRCm38)	N131D	possibly damaging	Het
Olfr1085	A	T	2: 86,658,347 (GRCm38)	I37N	probably benign	Het
Olfr1337	G	T	4: 118,782,152 (GRCm38)	C144*	probably null	Het
Olfr1341	T	C	4: 118,710,198 (GRCm38)	S264P	probably benign	Het
Olfr769	T	G	10: 129,111,771 (GRCm38)	Y218S	probably benign	Het
Osm	T	C	11: 4,239,723 (GRCm38)	V169A	possibly damaging	Het
Phkg2	C	T	7: 127,582,550 (GRCm38)	A278V	probably benign	Het
Plod2	T	A	9: 92,607,142 (GRCm38)	M709K	probably damaging	Het
Pzp	A	T	6: 128,487,401 (GRCm38)		probably null	Het
Ric1	T	C	19: 29,522,557 (GRCm38)	L12P	possibly damaging	Het
Skor1	C	A	9: 63,140,046 (GRCm38)		probably benign	Het
Slc39a10	G	A	1: 46,818,128 (GRCm38)	A696V	probably damaging	Het
Syncrip	A	G	9: 88,456,554 (GRCm38)		probably benign	Het
Tex2	T	C	11: 106,568,433 (GRCm38)	E57G	possibly damaging	Het
Tmc1	C	T	19: 20,832,350 (GRCm38)		probably null	Het
Tmem59	T	C	4: 107,192,538 (GRCm38)	M140T	probably benign	Het
Ttn	T	C	2: 76,944,089 (GRCm38)	T2158A	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
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
R4527: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

Posted On

2015-04-16