Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02338:Ly75'

288943

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02338

Quality Score

Status

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60354452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 453 (S453G)

Ref Sequence

ENSEMBL: ENSMUSP00000028362 (fasta)

Gene Model

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

AlphaFold

Q60767

Predicted Effect

probably benign
Transcript: ENSMUST00000028362
AA Change: S453G

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: S453G

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: S453G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: S453G

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

noncoding transcript
Transcript: ENSMUST00000124654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151984

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	G	A	4: 133,062,549	C367Y	possibly damaging	Het
AI182371	T	A	2: 35,085,716	I279L	probably benign	Het
Ambp	A	T	4: 63,143,697	C332S	probably damaging	Het
App	T	C	16: 85,173,519	T14A	probably benign	Het
Asap1	A	T	15: 64,123,670		probably null	Het
Aurka	T	C	2: 172,359,858	R242G	probably benign	Het
BC034090	G	A	1: 155,217,471	P747L	probably damaging	Het
Bcl6b	T	C	11: 70,229,092	D23G	probably damaging	Het
Cabp2	A	C	19: 4,084,154	E42A	possibly damaging	Het
Ccdc14	G	A	16: 34,721,803	S557N	probably benign	Het
Ccdc146	G	T	5: 21,319,606		probably benign	Het
Cenpf	T	A	1: 189,680,418	Q216L	probably damaging	Het
Ces1b	G	A	8: 93,057,047	P515L	possibly damaging	Het
Col6a5	A	T	9: 105,878,630	N2198K	probably damaging	Het
Csmd2	A	G	4: 128,395,066	S1133G	possibly damaging	Het
Cspg5	G	A	9: 110,256,267	R502H	probably benign	Het
Cyp2g1	A	G	7: 26,814,804		probably benign	Het
Dnajc27	A	G	12: 4,096,229	Y86C	probably damaging	Het
Dnm1	T	C	2: 32,312,771	D715G	probably damaging	Het
Dock1	G	T	7: 135,133,075	L1317F	possibly damaging	Het
Fanci	T	A	7: 79,433,531	Y727*	probably null	Het
Fbxw20	T	A	9: 109,225,978	T168S	probably benign	Het
Folh1	A	T	7: 86,736,515		probably benign	Het
Gas7	A	T	11: 67,682,731	S379C	probably damaging	Het
Gbp2b	A	G	3: 142,604,226	E259G	probably benign	Het
Gm8325	T	C	3: 60,877,384		noncoding transcript	Het
Gm9268	T	C	7: 43,047,736	I739T	probably damaging	Het
Gpr75	A	T	11: 30,891,730	T212S	probably benign	Het
Itgb4	A	G	11: 116,007,969	T1711A	probably damaging	Het
Maneal	A	G	4: 124,860,483		probably benign	Het
Marco	A	T	1: 120,494,779	I58N	possibly damaging	Het
Mtcl1	A	G	17: 66,379,970	I647T	probably damaging	Het
Mtfr1l	A	T	4: 134,530,743	V56D	probably damaging	Het
Npy1r	G	A	8: 66,704,302	V125I	probably damaging	Het
Olfr348	C	T	2: 36,786,545	Q7*	probably null	Het
Olfr659	T	C	7: 104,671,681		probably benign	Het
Olfr843	A	G	9: 19,248,664	L245P	probably damaging	Het
Osmr	A	T	15: 6,837,729	L362*	probably null	Het
Pdlim2	T	C	14: 70,174,457	D42G	probably damaging	Het
Plcb4	T	A	2: 136,000,180	I89N	possibly damaging	Het
Prrc2b	T	A	2: 32,214,035	M1175K	probably benign	Het
Pzp	T	A	6: 128,486,170	N1423I	probably benign	Het
Retnla	G	A	16: 48,844,198	C105Y	probably damaging	Het
Samd8	T	A	14: 21,775,476	S167T	possibly damaging	Het
Scg2	A	G	1: 79,436,493	M171T	possibly damaging	Het
Slc30a5	A	G	13: 100,803,433	V658A	probably damaging	Het
Slc41a2	T	C	10: 83,316,591	R7G	possibly damaging	Het
Slc44a2	A	G	9: 21,347,042	T500A	probably damaging	Het
Slc44a4	G	T	17: 34,923,810	G396V	possibly damaging	Het
Smarca5	A	G	8: 80,719,570		probably benign	Het
St8sia6	T	A	2: 13,793,345	R34W	probably damaging	Het
Stk-ps2	T	A	1: 46,030,177		noncoding transcript	Het
Stn1	T	C	19: 47,513,890	Y235C	probably damaging	Het
Tbx15	A	G	3: 99,352,484	Y557C	probably damaging	Het
Tgfbr1	G	A	4: 47,393,490		probably null	Het
Thsd7b	G	T	1: 129,595,771	V181L	probably damaging	Het
Tmpo	G	A	10: 91,163,242	R228C	probably benign	Het
Trpm4	T	G	7: 45,326,998	R51S	probably damaging	Het
Vmn1r91	A	T	7: 20,101,746	T197S	probably damaging	Het
Xrn1	A	G	9: 95,977,827	D424G	probably benign	Het
Yap1	A	G	9: 7,962,281		probably null	Het
Zer1	T	C	2: 30,113,393	D4G	probably damaging	Het
Zfp462	A	T	4: 55,010,292	I753F	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
IGL02364:Ly75	APN	2	60358507	missense	probably damaging	1.00
IGL02456:Ly75	APN	2	60293781	missense	probably benign	0.09
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
R8705:Ly75	UTSW	2	60318385	missense	probably damaging	0.98
R8714:Ly75	UTSW	2	60334485	missense	probably damaging	1.00
R8798:Ly75	UTSW	2	60323926	missense	probably benign	0.32
R8799:Ly75	UTSW	2	60348441	missense	probably damaging	1.00
R8834:Ly75	UTSW	2	60331089	missense	probably benign
R8990:Ly75	UTSW	2	60358559	missense	probably benign	0.10
R9015:Ly75	UTSW	2	60316098	missense	probably benign
R9547:Ly75	UTSW	2	60330725	critical splice donor site	probably null
R9628:Ly75	UTSW	2	60327941	missense	probably damaging	1.00
R9659:Ly75	UTSW	2	60338321	missense	probably damaging	1.00
R9660:Ly75	UTSW	2	60323840	missense	probably damaging	1.00
R9747:Ly75	UTSW	2	60306328	critical splice donor site	probably null
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