Mutagenetix > Incidental Mutation

Incidental Mutation 'R5531:Ly75'

433677

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

043089-MU

Accession Numbers

Genbank: NM_013825

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60365145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 223 (N223S)

Ref Sequence

ENSEMBL: ENSMUSP00000028362 (fasta)

Gene Model

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

AlphaFold

Q60767

Predicted Effect

probably damaging
Transcript: ENSMUST00000028362
AA Change: N223S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: N223S

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

possibly damaging
Transcript: ENSMUST00000112533
AA Change: N223S

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: N223S

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

Meta Mutation Damage Score

0.1398

Coding Region Coverage

1x: 98.6%
3x: 97.5%
10x: 95.6%
20x: 92.2%

Validation Efficiency

97% (64/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	G	19: 29,753,672	S647P	possibly damaging	Het
Acacb	T	C	5: 114,204,706	F878L	possibly damaging	Het
Acr	T	A	15: 89,573,943	Y276N	probably damaging	Het
AI987944	A	T	7: 41,374,390	Y388*	probably null	Het
Ankrd29	G	A	18: 12,279,778	T114I	probably damaging	Het
Ap5z1	T	C	5: 142,467,781	M168T	probably benign	Het
Bard1	A	C	1: 71,046,721	C608W	probably damaging	Het
Clspn	A	G	4: 126,577,773	R907G	probably benign	Het
Cubn	C	T	2: 13,350,932	V1830I	probably benign	Het
Cwc22	T	C	2: 77,924,569	N221S	probably damaging	Het
Dact3	A	G	7: 16,875,615	E64G	possibly damaging	Het
Dhx40	T	C	11: 86,789,504	E381G	possibly damaging	Het
Dnah7a	A	G	1: 53,419,748	S3744P	possibly damaging	Het
Epha4	A	G	1: 77,374,876	V914A	probably benign	Het
Fbxw10	G	A	11: 62,862,656	C492Y	probably damaging	Het
G930045G22Rik	C	A	6: 50,847,776		noncoding transcript	Het
Gm21103	A	T	14: 6,303,861	I63K	probably damaging	Het
Gpr156	T	C	16: 38,005,257	V612A	probably benign	Het
Gucy2g	A	G	19: 55,241,140	S33P	probably benign	Het
Hibch	A	G	1: 52,845,069		probably benign	Het
Hmcn1	A	T	1: 150,743,788	C1192S	probably damaging	Het
Hsd11b1	CGG	CG	1: 193,240,249		probably null	Het
Ifi214	A	G	1: 173,525,120	Y248H	probably damaging	Het
Igf2bp2	T	G	16: 22,089,085	I89L	probably damaging	Het
Il2ra	A	T	2: 11,676,892	T103S	possibly damaging	Het
Ino80	T	A	2: 119,445,575	M407L	probably benign	Het
Jade1	A	C	3: 41,613,511	K671N	probably benign	Het
Lca5	C	T	9: 83,398,595	S384N	probably benign	Het
Lce1l	G	T	3: 92,850,497	P18H	unknown	Het
Lrrc8d	T	C	5: 105,797,670		probably benign	Het
Mcm3	A	T	1: 20,803,544	F784Y	possibly damaging	Het
Ncf4	T	G	15: 78,260,788		probably benign	Het
Ncoa1	T	A	12: 4,253,746	M1362L	probably benign	Het
Olfr1	T	C	11: 73,395,177	T282A	probably benign	Het
Olfr467	A	G	7: 107,815,244	Y220C	probably benign	Het
Olfr765	G	C	10: 129,046,564	F166L	probably damaging	Het
Prkg2	T	C	5: 98,967,734	R543G	probably damaging	Het
Ptprd	A	C	4: 76,059,667		probably null	Het
Scap	A	G	9: 110,381,429	S969G	possibly damaging	Het
Sgk2	T	C	2: 162,994,704	F60S	probably benign	Het
Sgpp1	G	T	12: 75,735,207	Y119*	probably null	Het
Siglech	A	T	7: 55,768,665	K31*	probably null	Het
Slc40a1	A	G	1: 45,912,338	Y220H	probably damaging	Het
Smurf2	G	A	11: 106,852,563	T219M	possibly damaging	Het
Speer4f2	A	G	5: 17,376,528	K156R	possibly damaging	Het
Spp1	T	G	5: 104,440,558	D276E	probably benign	Het
Stk32b	T	C	5: 37,459,734		probably null	Het
Stxbp5	G	A	10: 9,762,924	Q1044*	probably null	Het
Sv2c	T	A	13: 95,961,378	T696S	probably damaging	Het
Tubgcp2	A	C	7: 140,005,024		probably null	Het
Ubap1l	C	T	9: 65,371,691	P91S	probably damaging	Het
Vmn2r76	A	T	7: 86,225,449	D773E	probably damaging	Het
Xirp2	C	G	2: 67,515,302	S2629C	probably benign	Het
Zbtb20	C	A	16: 43,610,867	C580*	probably null	Het
Zfp957	T	A	14: 79,213,182	Q392H	unknown	Het
Zfyve19	C	T	2: 119,211,946	T178M	probably damaging	Het
Zswim6	T	C	13: 107,769,593		noncoding transcript	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGATGTCTGCTCTACCACATGC -3'
(R):5'- ACTATGCACTGTGTCTTAGCC -3'

Sequencing Primer
(F):5'- GCAAGTTAAACCTACCCGTAATGTAG -3'
(R):5'- AAGAGTTAGCCCGCTTGAGTC -3'

Posted On

2016-10-06