Mutagenetix > Incidental Mutation

Incidental Mutation 'R9015:Ly75'

685886

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

068845-MU

Accession Numbers

Genbank: NM_013825

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9015 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60316098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1279 (E1279K)

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: E1279K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: E1279K

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: E1279K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: E1279K

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (93/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,086,688		probably benign	Het
Adamtsl1	A	G	4: 86,232,610	D335G	probably damaging	Het
Adcy8	T	C	15: 64,725,357		probably benign	Het
AI413582	T	C	17: 27,564,249	D48G	probably benign	Het
Alas1	A	T	9: 106,236,471	I525N	probably benign	Het
Aoah	A	T	13: 21,000,027		silent	Het
Aox2	G	A	1: 58,343,692	V1044M	probably damaging	Het
Apcdd1	A	T	18: 62,950,086	Y329F	possibly damaging	Het
Arhgap10	A	C	8: 77,259,058	C727G	probably benign	Het
Arid4a	G	A	12: 71,075,394	D528N	possibly damaging	Het
Atp8a1	A	G	5: 67,729,907	V611A		Het
BC004004	T	C	17: 29,298,663	F284L	probably damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cep295	T	C	9: 15,332,968	I1397M	probably benign	Het
Cep63	A	G	9: 102,618,912	S99P	probably damaging	Het
Coq3	T	A	4: 21,899,107	S147T	probably benign	Het
Crym	A	T	7: 120,201,867	S20T	probably benign	Het
Ctr9	T	A	7: 111,043,901	N493K	probably benign	Het
Dchs2	A	G	3: 83,281,444	I1372V	possibly damaging	Het
Ddi2	G	A	4: 141,685,436	T55M	probably benign	Het
Dnah1	T	C	14: 31,264,359	M3724V	probably damaging	Het
Dst	A	G	1: 34,287,256	I4690V	probably benign	Het
Ect2l	T	C	10: 18,163,400	T429A	probably benign	Het
Eif3c	G	T	7: 126,556,366	H577N	probably damaging	Het
Erg	A	G	16: 95,361,267	S334P	possibly damaging	Het
Faf2	A	G	13: 54,648,326	S127G	probably benign	Het
Fbxl3	T	A	14: 103,092,354	T141S	possibly damaging	Het
Fbxw4	T	A	19: 45,636,435	M122L	probably benign	Het
Fgd4	T	C	16: 16,454,077	M476V	probably damaging	Het
Flvcr2	A	T	12: 85,783,005	I263F	probably benign	Het
Gadl1	A	T	9: 115,965,637	R293S	probably benign	Het
Gm11983	G	T	11: 6,837,033	F31L	unknown	Het
Gmnn	A	T	13: 24,756,655	N70K	probably benign	Het
Gpr3	A	G	4: 133,211,079	V94A	possibly damaging	Het
Greb1l	A	G	18: 10,541,675	S1141G	probably benign	Het
Helz2	A	T	2: 181,228,999	V2892E	probably damaging	Het
Hivep1	T	A	13: 42,158,373	M1363K	probably benign	Het
Hk1	T	A	10: 62,292,339	T336S	possibly damaging	Het
Hpgds	A	T	6: 65,138,245	I18N	possibly damaging	Het
Insrr	T	A	3: 87,813,603	L1056Q	probably damaging	Het
Ints10	A	G	8: 68,807,487	M288V	probably benign	Het
Itgb6	T	C	2: 60,654,688	D237G	probably damaging	Het
Kcnf1	A	G	12: 17,175,302	I306T	probably damaging	Het
Kdm3b	G	A	18: 34,830,159	G1556D	probably damaging	Het
Kif5b	A	G	18: 6,216,892	L477P	probably damaging	Het
Klf5	T	G	14: 99,303,483	*310G	probably null	Het
Lnx1	A	G	5: 74,620,122	V246A	probably benign	Het
Lztr1	T	A	16: 17,519,441	C233S	probably benign	Het
Mfsd6l	T	G	11: 68,556,710	I129S	probably benign	Het
Mrgprx2	T	A	7: 48,499,190		probably benign	Het
Ncapd2	A	T	6: 125,168,322		probably benign	Het
Olfr1115	T	A	2: 87,252,202	Y88*	probably null	Het
Olfr1121	T	A	2: 87,372,141	M203K	possibly damaging	Het
Olfr447	G	T	6: 42,911,891	V123L	possibly damaging	Het
Olfr948	A	C	9: 39,318,723	V297G	probably damaging	Het
Pde6a	A	G	18: 61,263,976	H631R	probably damaging	Het
Pfkl	C	T	10: 77,988,960	G665D	probably damaging	Het
Pik3ap1	T	A	19: 41,281,991	E753V	probably damaging	Het
Pik3cd	G	T	4: 149,655,598	R502S	probably benign	Het
Piwil2	T	A	14: 70,390,535	I762L	probably benign	Het
Pkd1	T	A	17: 24,565,662	L394*	probably null	Het
Plekhb2	A	G	1: 34,876,965	D195G	probably benign	Het
Plppr5	T	C	3: 117,662,454	M208T	probably damaging	Het
Polr2i	G	A	7: 30,233,088	V115I	unknown	Het
Prkacb	T	C	3: 146,750,484	S187G	probably null	Het
Prkag3	G	T	1: 74,741,194	H437Q	probably benign	Het
Prlr	T	A	15: 10,319,266	Y94N	probably damaging	Het
Prmt6	T	C	3: 110,249,898	I358M	probably benign	Het
Psd4	A	G	2: 24,397,480	R475G		Het
Rad51b	G	A	12: 79,300,643	C27Y	probably damaging	Het
Scfd2	A	G	5: 74,530,964	L219P	probably damaging	Het
Scn5a	G	A	9: 119,552,076		probably benign	Het
Sec24d	T	C	3: 123,327,638	V391A	probably benign	Het
Selenbp2	T	A	3: 94,700,025	L251Q	probably damaging	Het
Sh3rf1	T	C	8: 61,374,168	V652A	probably benign	Het
Slc11a2	A	G	15: 100,403,305	V289A	probably benign	Het
Sox8	T	A	17: 25,570,161	Y121F	probably damaging	Het
Taar7a	A	T	10: 23,992,835	I216N	probably damaging	Het
Tanc1	T	A	2: 59,791,880	S448T	probably benign	Het
Tas2r119	G	A	15: 32,178,080	G264D	probably damaging	Het
Trav7-6	A	G	14: 53,717,147	K65E	probably benign	Het
Trim17	A	G	11: 58,965,231	E38G	probably damaging	Het
Trub2	A	T	2: 29,778,264		probably benign	Het
Ttn	T	A	2: 76,741,620	M26310L	probably damaging	Het
Unc13c	T	G	9: 73,546,040	I1823L	probably benign	Het
Vav2	C	A	2: 27,270,139	E728*	probably null	Het
Virma	A	G	4: 11,540,494	D1465G	probably benign	Het
Vmn2r72	T	G	7: 85,749,180	M531L	probably benign	Het
Vwa3b	G	A	1: 37,164,516	V59I	possibly damaging	Het
Xrcc1	G	A	7: 24,572,217	E542K	probably benign	Het
Zdhhc6	T	G	19: 55,298,886	T381P	probably benign	Het
Zdhhc8	T	C	16: 18,223,277	S740G	probably damaging	Het
Zfp106	T	C	2: 120,533,538	K819R	probably 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
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
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

Posted On

2021-10-11