Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:Ly75'

294188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

Accession Numbers

Genbank: NM_013825

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60293781 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1717 (M1717I)

Ref Sequence

ENSEMBL: ENSMUSP00000108152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028362] [ENSMUST00000112533]

Predicted Effect

probably benign
Transcript: ENSMUST00000028362
AA Change: M1717I

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: M1717I

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
RICIN	33	146	2.63e-17	SMART
FN2	162	209	1.22e-23	SMART
CLECT	216	341	7.36e-32	SMART
CLECT	361	486	9.28e-29	SMART
CLECT	501	624	1.11e-17	SMART
CLECT	643	791	1.93e-26	SMART
CLECT	811	932	7.94e-2	SMART
CLECT	952	1091	5.81e-21	SMART
CLECT	1104	1222	1.04e-22	SMART
CLECT	1240	1382	3.48e-10	SMART
CLECT	1395	1513	9.59e-22	SMART
CLECT	1530	1661	7.79e-22	SMART
transmembrane domain	1670	1692	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112533
AA Change: M1717I

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: M1717I

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
RICIN	33	146	2.63e-17	SMART
FN2	162	209	1.22e-23	SMART
CLECT	216	341	7.36e-32	SMART
CLECT	361	486	9.28e-29	SMART
CLECT	501	624	1.11e-17	SMART
CLECT	643	791	1.93e-26	SMART
CLECT	811	932	7.94e-2	SMART
CLECT	952	1091	5.81e-21	SMART
CLECT	1104	1222	1.04e-22	SMART
CLECT	1240	1382	3.48e-10	SMART
CLECT	1395	1513	9.59e-22	SMART
CLECT	1530	1661	7.79e-22	SMART
transmembrane domain	1670	1692	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display abnormalities in CD8-positive T cell morphology and cytotoxic T cell physiology. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(5)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Map1a	C	A	2: 121,298,653	P133T	probably damaging	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly damaging	Het

Other mutations in Ly75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Ly75	APN	2	60376077	missense	probably damaging	1.00
IGL01072:Ly75	APN	2	60354496	missense	probably damaging	1.00
IGL01409:Ly75	APN	2	60321692	splice site	probably null
IGL01432:Ly75	APN	2	60376007	missense	probably damaging	1.00
IGL01626:Ly75	APN	2	60301015	missense	probably benign	0.13
IGL01690:Ly75	APN	2	60338311	missense	probably damaging	1.00
IGL01862:Ly75	APN	2	60299172	missense	probably damaging	1.00
IGL01982:Ly75	APN	2	60311764	missense	probably damaging	1.00
IGL02075:Ly75	APN	2	60352356	missense	probably damaging	0.99
IGL02338:Ly75	APN	2	60354452	missense	probably benign	0.04
IGL02364:Ly75	APN	2	60358507	missense	probably damaging	1.00
IGL02474:Ly75	APN	2	60383182	missense	probably null	1.00
IGL02608:Ly75	APN	2	60321900	missense	probably benign	0.41
IGL02986:Ly75	APN	2	60308191	missense	probably damaging	1.00
IGL03015:Ly75	APN	2	60376160	missense	probably damaging	1.00
IGL03049:Ly75	APN	2	60352070	missense	probably damaging	0.99
euphues	UTSW	2	60299045	critical splice donor site	probably null
four_score	UTSW	2	60311771	missense	possibly damaging	0.75
lyly	UTSW	2	60327873	missense	possibly damaging	0.49
Witty	UTSW	2	60354500	missense	probably damaging	1.00
D605:Ly75	UTSW	2	60352352	critical splice donor site	probably null
R0046:Ly75	UTSW	2	60339457	intron	probably benign
R0055:Ly75	UTSW	2	60321918	missense	probably benign	0.01
R0055:Ly75	UTSW	2	60321918	missense	probably benign	0.01
R0071:Ly75	UTSW	2	60321819	missense	probably benign	0.01
R0071:Ly75	UTSW	2	60321819	missense	probably benign	0.01
R0285:Ly75	UTSW	2	60318319	missense	probably damaging	1.00
R0387:Ly75	UTSW	2	60306404	missense	probably benign	0.20
R0492:Ly75	UTSW	2	60308276	missense	probably damaging	1.00
R0688:Ly75	UTSW	2	60316221	missense	probably benign	0.41
R1367:Ly75	UTSW	2	60293758	splice site	probably null
R1463:Ly75	UTSW	2	60368757	critical splice donor site	probably null
R1581:Ly75	UTSW	2	60327893	missense	probably damaging	1.00
R1663:Ly75	UTSW	2	60314234	missense	probably damaging	1.00
R1818:Ly75	UTSW	2	60311777	missense	probably damaging	1.00
R1881:Ly75	UTSW	2	60349940	missense	probably benign	0.00
R2244:Ly75	UTSW	2	60349913	missense	probably benign	0.01
R2905:Ly75	UTSW	2	60334554	missense	probably benign	0.00
R3967:Ly75	UTSW	2	60327873	missense	possibly damaging	0.49
R3968:Ly75	UTSW	2	60327873	missense	possibly damaging	0.49
R4039:Ly75	UTSW	2	60352995	missense	probably damaging	1.00
R4406:Ly75	UTSW	2	60354550	missense	probably damaging	1.00
R4526:Ly75	UTSW	2	60330773	missense	probably benign	0.09
R4647:Ly75	UTSW	2	60308278	missense	probably damaging	1.00
R4795:Ly75	UTSW	2	60349940	missense	probably benign	0.00
R4796:Ly75	UTSW	2	60349940	missense	probably benign	0.00
R4962:Ly75	UTSW	2	60352125	missense	probably damaging	1.00
R4979:Ly75	UTSW	2	60375894	missense	probably damaging	1.00
R5072:Ly75	UTSW	2	60375963	missense	probably damaging	1.00
R5288:Ly75	UTSW	2	60303641	missense	probably damaging	1.00
R5373:Ly75	UTSW	2	60311771	missense	possibly damaging	0.75
R5374:Ly75	UTSW	2	60311771	missense	possibly damaging	0.75
R5384:Ly75	UTSW	2	60334487	nonsense	probably null
R5385:Ly75	UTSW	2	60303641	missense	probably damaging	1.00
R5395:Ly75	UTSW	2	60365111	missense	probably benign	0.41
R5531:Ly75	UTSW	2	60365145	missense	probably damaging	0.98
R5662:Ly75	UTSW	2	60352381	missense	probably damaging	1.00
R5667:Ly75	UTSW	2	60308311	missense	probably damaging	1.00
R5668:Ly75	UTSW	2	60354500	missense	probably damaging	1.00
R5671:Ly75	UTSW	2	60308311	missense	probably damaging	1.00
R5677:Ly75	UTSW	2	60299082	missense	probably benign	0.00
R5764:Ly75	UTSW	2	60318439	missense	probably benign
R5896:Ly75	UTSW	2	60383146	missense	probably benign
R6025:Ly75	UTSW	2	60375962	missense	probably damaging	1.00
R6113:Ly75	UTSW	2	60368873	missense	probably benign	0.04
R6448:Ly75	UTSW	2	60299045	critical splice donor site	probably null
R6601:Ly75	UTSW	2	60318376	missense	probably benign	0.11
R6745:Ly75	UTSW	2	60308179	missense	probably damaging	1.00
R6955:Ly75	UTSW	2	60327873	missense	possibly damaging	0.49
R6960:Ly75	UTSW	2	60306405	missense	probably benign
R7100:Ly75	UTSW	2	60306434	missense	probably benign
R7110:Ly75	UTSW	2	60376184	missense	probably benign	0.31
R7203:Ly75	UTSW	2	60323852	nonsense	probably null
R7291:Ly75	UTSW	2	60329993	missense	probably damaging	0.98
R7308:Ly75	UTSW	2	60334515	missense	probably benign	0.04
R7447:Ly75	UTSW	2	60334474	nonsense	probably null
R7512:Ly75	UTSW	2	60334563	missense	probably damaging	1.00
R7595:Ly75	UTSW	2	60293827	missense	probably benign	0.01
R7976:Ly75	UTSW	2	60365088	missense	probably damaging	1.00
R8005:Ly75	UTSW	2	60332934	missense	probably damaging	1.00
R8171:Ly75	UTSW	2	60314228	missense	possibly damaging	0.51
R8392:Ly75	UTSW	2	60349940	missense	probably benign	0.00
X0025:Ly75	UTSW	2	60354475	missense	probably damaging	1.00
Z1177:Ly75	UTSW	2	60350004	nonsense	probably null
Z1177:Ly75	UTSW	2	60352133	missense	possibly damaging	0.65

Posted On

2015-04-16