Mutagenetix > Incidental Mutation

Incidental Mutation 'R7308:Ly75'

567367

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

045323-MU

Accession Numbers

Genbank: NM_013825

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60334515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 773 (D773G)

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: D773G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: D773G

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: D773G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: D773G

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: 99.6%
20x: 98.8%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,423,770	I43T	probably benign	Het
Ankar	G	A	1: 72,651,794	Q1175*	probably null	Het
Aqr	G	A	2: 114,104,062	A1366V	possibly damaging	Het
Arhgap45	G	A	10: 80,026,558		probably null	Het
Atf7ip	T	A	6: 136,565,089	M607K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	TCACTGGTTCTGTGGTCACTGGTTCTGTGG	TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG	3: 95,888,152		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC	3: 95,888,169		probably benign	Het
Bcar3	T	A	3: 122,508,493	V279E	probably benign	Het
Cd96	C	T	16: 46,071,734		probably null	Het
Cdca2	G	A	14: 67,694,991	P488S	probably benign	Het
Col4a2	T	G	8: 11,406,856		probably null	Het
Cyp4a12a	A	G	4: 115,327,758	R379G	possibly damaging	Het
Defb34	A	G	8: 19,126,379	S29G	probably benign	Het
Dnah11	A	G	12: 117,995,275	S2958P	probably damaging	Het
Dync1h1	A	G	12: 110,665,162	D4431G	possibly damaging	Het
Egfem1	A	T	3: 29,151,866	H84L	probably benign	Het
Enah	A	T	1: 181,906,385		probably null	Het
Fam178b	G	T	1: 36,659,407	Q78K	probably benign	Het
Glb1	A	G	9: 114,473,863	N589S	probably damaging	Het
Gm1527	C	T	3: 28,902,280	H132Y	probably benign	Het
Gm4788	A	G	1: 139,754,303	V185A	possibly damaging	Het
Gm4858	A	G	3: 93,074,565	T223A	probably benign	Het
Gm5799	A	G	14: 43,543,707	R22G	possibly damaging	Het
Grip2	T	C	6: 91,778,688	D617G	possibly damaging	Het
Hax1	A	T	3: 89,998,566	D5E	possibly damaging	Het
Hic1	A	G	11: 75,167,151	L304P	probably damaging	Het
Hmox1	T	A	8: 75,097,019	I105N	probably damaging	Het
Hormad1	T	C	3: 95,562,555	S38P	probably damaging	Het
Hspa4	A	G	11: 53,267,103	S558P	possibly damaging	Het
Kcnf1	T	A	12: 17,174,729	H497L	probably benign	Het
Kcnma1	C	T	14: 23,330,935	D1022N	probably damaging	Het
Kcnt1	T	C	2: 25,900,463	F479S	possibly damaging	Het
Krba1	T	C	6: 48,406,339	V203A	probably benign	Het
Lct	G	T	1: 128,319,087	P233Q	probably benign	Het
Malt1	T	C	18: 65,449,609		probably null	Het
Man1a2	A	T	3: 100,620,105	L333Q	probably damaging	Het
Mtus1	T	C	8: 41,082,928	T584A	probably benign	Het
Myof	A	T	19: 37,910,911	S1800R	probably damaging	Het
Nbea	A	C	3: 56,091,031	C118W	probably damaging	Het
Nsd3	A	T	8: 25,640,724	D35V	probably damaging	Het
Olfr1386	G	A	11: 49,469,927		probably benign	Het
Olfr739	G	A	14: 50,425,265	V249I	possibly damaging	Het
Pcnx3	C	T	19: 5,686,147	R217H	possibly damaging	Het
Pcsk4	G	A	10: 80,323,173	P462L	probably benign	Het
Pdia5	T	G	16: 35,456,509	K96N	probably damaging	Het
Pik3c2a	T	C	7: 116,373,839	Y707C	probably damaging	Het
Ppig	A	T	2: 69,749,462	N447Y	unknown	Het
Ppp1r9b	T	C	11: 95,004,571	L695P	possibly damaging	Het
Proser1	C	T	3: 53,478,704	A669V	probably benign	Het
Rdx	A	T	9: 52,068,870	K254N	probably damaging	Het
Slc35f2	T	C	9: 53,798,010	S95P	probably benign	Het
Slc4a3	T	A	1: 75,557,362	S1118T	probably benign	Het
Slf1	G	A	13: 77,051,168	P698L	probably benign	Het
Sptbn2	A	G	19: 4,751,574	E2338G	probably benign	Het
Taok3	T	A	5: 117,200,151	Y91*	probably null	Het
Tbc1d31	C	T	15: 57,952,816	L649F	probably damaging	Het
Tmem132b	A	T	5: 125,787,646	I939F	possibly damaging	Het
Trav17	T	A	14: 53,806,979	Y69N	probably benign	Het
Trmt13	T	C	3: 116,594,739	D16G	probably benign	Het
Upf2	T	A	2: 5,973,518	Y398N	unknown	Het
Vmn1r238	T	C	18: 3,122,875	T180A	probably benign	Het
Wdyhv1	T	C	15: 58,152,610	V85A	possibly damaging	Het
Zfp738	A	T	13: 67,669,553	I773N	probably benign	Het
Zscan4e	A	T	7: 11,307,153	M264K	probably benign	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
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'- TACAAGGACCTGCCCAATTTTGAC -3'
(R):5'- TTGGAAAACCCTTGCCCGAG -3'

Sequencing Primer
(F):5'- AATTTTGACCTCTGCACTGCTG -3'
(R):5'- TTGCCCGAGCTGCTGAGTTAC -3'

Posted On

2019-06-26