Mutagenetix > Incidental Mutation

Incidental Mutation 'R3967:Ly75'

312382

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

040838-MU

Accession Numbers

Genbank: NM_013825

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3967 (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 60327873 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1023 (I1023V)

Ref Sequence

ENSEMBL: ENSMUSP00000108152 (fasta)

Gene Model

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

AlphaFold

Q60767

Predicted Effect

probably benign
Transcript: ENSMUST00000028362
AA Change: I1023V

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: I1023V

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: I1023V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: I1023V

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

Meta Mutation Damage Score

0.7518

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

100% (44/44)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	G	T	8: 121,539,980	Q56K	possibly damaging	Het
Adam18	C	A	8: 24,629,710	V518L	probably benign	Het
Akap6	A	T	12: 53,141,453	K1883N	probably damaging	Het
Arhgef12	C	A	9: 43,005,551	R432L	probably damaging	Het
Armcx6	G	T	X: 134,749,756	H109N	possibly damaging	Het
Ctnnd2	C	A	15: 30,646,929	A257E	possibly damaging	Het
Depdc5	T	A	5: 32,944,115	C322*	probably null	Het
Enpp7	T	C	11: 118,991,001	I324T	probably damaging	Het
Gm14401	T	C	2: 177,086,996	Y292H	possibly damaging	Het
Gm6871	A	T	7: 41,546,724	H196Q	probably damaging	Het
Gm9964	T	C	11: 79,296,376	T82A	unknown	Het
Gria2	T	A	3: 80,710,777	Q317L	possibly damaging	Het
Grtp1	G	A	8: 13,189,705	T134I	probably benign	Het
Itpkb	A	T	1: 180,327,798		probably benign	Het
Kbtbd12	A	G	6: 88,618,506	V114A	probably benign	Het
Lama3	A	T	18: 12,580,341	K3230M	probably damaging	Het
Myof	C	T	19: 37,901,263	V1287M	probably damaging	Het
Myof	T	G	19: 38,022,610	D60A	possibly damaging	Het
Narf	A	T	11: 121,238,421	E10D	possibly damaging	Het
Nlrx1	A	T	9: 44,255,425		probably benign	Het
Olfr512	A	G	7: 108,713,853	M155V	probably benign	Het
Olfr921	A	G	9: 38,775,368	T38A	probably benign	Het
Pabpc5	A	G	X: 119,928,624	E212G	probably benign	Het
Pidd1	A	G	7: 141,439,082	F829L	possibly damaging	Het
Pik3r2	G	A	8: 70,770,421	R452C	probably benign	Het
Pkn2	A	G	3: 142,809,677	C658R	probably damaging	Het
Psd	C	T	19: 46,324,406	R175H	probably benign	Het
Rab39	G	A	9: 53,686,632	A111V	possibly damaging	Het
Rb1cc1	T	A	1: 6,248,270		probably benign	Het
Rnf39	C	A	17: 36,943,143	T19K	probably damaging	Het
Slc16a3	C	T	11: 120,955,425	T60M	possibly damaging	Het
Slc26a4	G	T	12: 31,528,687	H656N	probably damaging	Het
Slc27a1	A	G	8: 71,579,787	E184G	probably damaging	Het
Smc6	T	C	12: 11,298,326	V742A	probably benign	Het
Thoc1	T	A	18: 9,968,787	V186D	probably damaging	Het
Uhrf2	T	C	19: 30,079,915	V491A	probably damaging	Het
Uri1	A	G	7: 37,965,502	V253A	possibly damaging	Het
Vmn2r83	T	A	10: 79,491,320	N587K	probably benign	Het
Vmn2r88	A	T	14: 51,413,190	Y120F	probably benign	Het
Wwox	G	A	8: 114,488,933	A149T	probably damaging	Het
Zfp536	T	C	7: 37,473,830	*282W	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ATGGAACTGTGCATTGGGCC -3'
(R):5'- TTAGAGAAGGCAAAAGGCTATCTTG -3'

Sequencing Primer
(F):5'- GAGACAGGGTTTCCTATATCCCAG -3'
(R):5'- ACACTCATATGTGACGATCAGAG -3'

Posted On

2015-04-29