Mutagenetix > Incidental Mutation

Incidental Mutation 'R6960:Ly75'

541689

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

045070-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60122447-60213617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60136749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1493 (Y1493N)

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: Y1493N

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

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: Y1493N

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: Y1493N

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

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: Y1493N

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

98% (50/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,072,924 (GRCm39)	D1170G	probably benign	Het
Ak7	A	T	12: 105,676,503 (GRCm39)	T68S	probably benign	Het
Arhgap12	A	T	18: 6,111,901 (GRCm39)	N26K	probably damaging	Het
B3galt1	A	T	2: 67,949,033 (GRCm39)	E249D	probably damaging	Het
Catsper4	T	A	4: 133,954,648 (GRCm39)	M1L	probably benign	Het
Cc2d2b	T	C	19: 40,773,506 (GRCm39)	V523A	possibly damaging	Het
Ccn4	C	T	15: 66,791,047 (GRCm39)	T283M	probably benign	Het
Cyp11a1	T	C	9: 57,925,659 (GRCm39)	F98S	probably damaging	Het
Cyp2d26	T	C	15: 82,674,446 (GRCm39)	S479G	probably damaging	Het
Dclre1a	T	G	19: 56,531,141 (GRCm39)	Y735S	probably damaging	Het
Dio2	C	T	12: 90,696,671 (GRCm39)	G106R	probably damaging	Het
Efcab12	T	C	6: 115,815,273 (GRCm39)		probably benign	Het
Ehhadh	C	A	16: 21,581,028 (GRCm39)	V655L	probably benign	Het
Ercc2	G	A	7: 19,127,615 (GRCm39)	R379Q	probably damaging	Het
Fabp4	A	G	3: 10,273,537 (GRCm39)	V12A	probably benign	Het
Fbn1	T	C	2: 125,223,980 (GRCm39)	I590V	probably benign	Het
Grm8	C	A	6: 27,981,281 (GRCm39)	V210L	probably damaging	Het
Jakmip3	A	G	7: 138,625,065 (GRCm39)	D359G	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lyst	A	G	13: 13,808,663 (GRCm39)	N111S	probably benign	Het
Lyz2	G	C	10: 117,114,607 (GRCm39)	I107M	possibly damaging	Het
Mgat5	A	T	1: 127,248,371 (GRCm39)	D91V	possibly damaging	Het
Mical3	T	A	6: 120,935,504 (GRCm39)	D1674V	probably damaging	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Naa16	A	G	14: 79,596,911 (GRCm39)	Y358H	possibly damaging	Het
Nktr	T	A	9: 121,571,758 (GRCm39)	H226Q	probably damaging	Het
Ocln	T	G	13: 100,635,380 (GRCm39)	K503T	possibly damaging	Het
Olfm4	T	C	14: 80,258,754 (GRCm39)	L301S	probably damaging	Het
Or4f4b	G	A	2: 111,314,071 (GRCm39)	V127I	possibly damaging	Het
Or6c74	T	C	10: 129,869,972 (GRCm39)	L159P	probably benign	Het
Paqr4	G	A	17: 23,956,697 (GRCm39)	A222V	probably benign	Het
Pcdhb13	A	G	18: 37,576,509 (GRCm39)	T296A	probably benign	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Pigg	T	C	5: 108,474,707 (GRCm39)	V309A	probably damaging	Het
Ptger4	T	C	15: 5,264,196 (GRCm39)	R462G	probably benign	Het
Ptprc	C	T	1: 138,006,183 (GRCm39)		probably null	Het
Rabggta	A	C	14: 55,959,299 (GRCm39)		probably null	Het
Rnf25	A	G	1: 74,634,403 (GRCm39)	S207P	possibly damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtf1	A	G	2: 119,541,559 (GRCm39)	Q264R	probably damaging	Het
Ryr2	A	G	13: 11,816,129 (GRCm39)	V619A	probably benign	Het
Serpinb6d	A	G	13: 33,855,181 (GRCm39)	N285S	probably benign	Het
Slamf6	A	G	1: 171,745,320 (GRCm39)	M16V	probably damaging	Het
Slc22a23	A	G	13: 34,528,140 (GRCm39)		probably null	Het
Slc23a2	T	C	2: 131,933,173 (GRCm39)	D95G	probably damaging	Het
Smc3	T	C	19: 53,617,802 (GRCm39)	Y600H	probably damaging	Het
Tarbp1	G	A	8: 127,155,778 (GRCm39)	T1320M	possibly damaging	Het
Tigd4	A	T	3: 84,501,423 (GRCm39)	K113N	probably damaging	Het
Tjp1	A	T	7: 64,952,763 (GRCm39)	F1444I	possibly damaging	Het
Tstd3	A	T	4: 21,767,118 (GRCm39)	M1K	probably null	Het
Zbtb46	T	C	2: 181,065,217 (GRCm39)	D311G	probably damaging	Het

Other mutations in Ly75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Ly75	APN	2	60,206,421 (GRCm39)	missense	probably damaging	1.00
IGL01072:Ly75	APN	2	60,184,840 (GRCm39)	missense	probably damaging	1.00
IGL01409:Ly75	APN	2	60,152,036 (GRCm39)	splice site	probably null
IGL01432:Ly75	APN	2	60,206,351 (GRCm39)	missense	probably damaging	1.00
IGL01626:Ly75	APN	2	60,131,359 (GRCm39)	missense	probably benign	0.13
IGL01690:Ly75	APN	2	60,168,655 (GRCm39)	missense	probably damaging	1.00
IGL01862:Ly75	APN	2	60,129,516 (GRCm39)	missense	probably damaging	1.00
IGL01982:Ly75	APN	2	60,142,108 (GRCm39)	missense	probably damaging	1.00
IGL02075:Ly75	APN	2	60,182,700 (GRCm39)	missense	probably damaging	0.99
IGL02338:Ly75	APN	2	60,184,796 (GRCm39)	missense	probably benign	0.04
IGL02364:Ly75	APN	2	60,188,851 (GRCm39)	missense	probably damaging	1.00
IGL02456:Ly75	APN	2	60,124,125 (GRCm39)	missense	probably benign	0.09
IGL02474:Ly75	APN	2	60,213,526 (GRCm39)	missense	probably null	1.00
IGL02608:Ly75	APN	2	60,152,244 (GRCm39)	missense	probably benign	0.41
IGL02986:Ly75	APN	2	60,138,535 (GRCm39)	missense	probably damaging	1.00
IGL03015:Ly75	APN	2	60,206,504 (GRCm39)	missense	probably damaging	1.00
IGL03049:Ly75	APN	2	60,182,414 (GRCm39)	missense	probably damaging	0.99
euphues	UTSW	2	60,129,389 (GRCm39)	critical splice donor site	probably null
four_score	UTSW	2	60,142,115 (GRCm39)	missense	possibly damaging	0.75
lyly	UTSW	2	60,158,217 (GRCm39)	missense	possibly damaging	0.49
Witty	UTSW	2	60,184,844 (GRCm39)	missense	probably damaging	1.00
D605:Ly75	UTSW	2	60,182,696 (GRCm39)	critical splice donor site	probably null
R0046:Ly75	UTSW	2	60,169,801 (GRCm39)	intron	probably benign
R0055:Ly75	UTSW	2	60,152,262 (GRCm39)	missense	probably benign	0.01
R0055:Ly75	UTSW	2	60,152,262 (GRCm39)	missense	probably benign	0.01
R0071:Ly75	UTSW	2	60,152,163 (GRCm39)	missense	probably benign	0.01
R0071:Ly75	UTSW	2	60,152,163 (GRCm39)	missense	probably benign	0.01
R0285:Ly75	UTSW	2	60,148,663 (GRCm39)	missense	probably damaging	1.00
R0387:Ly75	UTSW	2	60,136,748 (GRCm39)	missense	probably benign	0.20
R0492:Ly75	UTSW	2	60,138,620 (GRCm39)	missense	probably damaging	1.00
R0688:Ly75	UTSW	2	60,146,565 (GRCm39)	missense	probably benign	0.41
R1367:Ly75	UTSW	2	60,124,102 (GRCm39)	splice site	probably null
R1463:Ly75	UTSW	2	60,199,101 (GRCm39)	critical splice donor site	probably null
R1581:Ly75	UTSW	2	60,158,237 (GRCm39)	missense	probably damaging	1.00
R1663:Ly75	UTSW	2	60,144,578 (GRCm39)	missense	probably damaging	1.00
R1818:Ly75	UTSW	2	60,142,121 (GRCm39)	missense	probably damaging	1.00
R1881:Ly75	UTSW	2	60,180,284 (GRCm39)	missense	probably benign	0.00
R2244:Ly75	UTSW	2	60,180,257 (GRCm39)	missense	probably benign	0.01
R2905:Ly75	UTSW	2	60,164,898 (GRCm39)	missense	probably benign	0.00
R3967:Ly75	UTSW	2	60,158,217 (GRCm39)	missense	possibly damaging	0.49
R3968:Ly75	UTSW	2	60,158,217 (GRCm39)	missense	possibly damaging	0.49
R4039:Ly75	UTSW	2	60,183,339 (GRCm39)	missense	probably damaging	1.00
R4406:Ly75	UTSW	2	60,184,894 (GRCm39)	missense	probably damaging	1.00
R4526:Ly75	UTSW	2	60,161,117 (GRCm39)	missense	probably benign	0.09
R4647:Ly75	UTSW	2	60,138,622 (GRCm39)	missense	probably damaging	1.00
R4795:Ly75	UTSW	2	60,180,284 (GRCm39)	missense	probably benign	0.00
R4796:Ly75	UTSW	2	60,180,284 (GRCm39)	missense	probably benign	0.00
R4962:Ly75	UTSW	2	60,182,469 (GRCm39)	missense	probably damaging	1.00
R4979:Ly75	UTSW	2	60,206,238 (GRCm39)	missense	probably damaging	1.00
R5072:Ly75	UTSW	2	60,206,307 (GRCm39)	missense	probably damaging	1.00
R5288:Ly75	UTSW	2	60,133,985 (GRCm39)	missense	probably damaging	1.00
R5373:Ly75	UTSW	2	60,142,115 (GRCm39)	missense	possibly damaging	0.75
R5374:Ly75	UTSW	2	60,142,115 (GRCm39)	missense	possibly damaging	0.75
R5384:Ly75	UTSW	2	60,164,831 (GRCm39)	nonsense	probably null
R5385:Ly75	UTSW	2	60,133,985 (GRCm39)	missense	probably damaging	1.00
R5395:Ly75	UTSW	2	60,195,455 (GRCm39)	missense	probably benign	0.41
R5531:Ly75	UTSW	2	60,195,489 (GRCm39)	missense	probably damaging	0.98
R5662:Ly75	UTSW	2	60,182,725 (GRCm39)	missense	probably damaging	1.00
R5667:Ly75	UTSW	2	60,138,655 (GRCm39)	missense	probably damaging	1.00
R5668:Ly75	UTSW	2	60,184,844 (GRCm39)	missense	probably damaging	1.00
R5671:Ly75	UTSW	2	60,138,655 (GRCm39)	missense	probably damaging	1.00
R5677:Ly75	UTSW	2	60,129,426 (GRCm39)	missense	probably benign	0.00
R5764:Ly75	UTSW	2	60,148,783 (GRCm39)	missense	probably benign
R5896:Ly75	UTSW	2	60,213,490 (GRCm39)	missense	probably benign
R6025:Ly75	UTSW	2	60,206,306 (GRCm39)	missense	probably damaging	1.00
R6113:Ly75	UTSW	2	60,199,217 (GRCm39)	missense	probably benign	0.04
R6448:Ly75	UTSW	2	60,129,389 (GRCm39)	critical splice donor site	probably null
R6601:Ly75	UTSW	2	60,148,720 (GRCm39)	missense	probably benign	0.11
R6745:Ly75	UTSW	2	60,138,523 (GRCm39)	missense	probably damaging	1.00
R6955:Ly75	UTSW	2	60,158,217 (GRCm39)	missense	possibly damaging	0.49
R7100:Ly75	UTSW	2	60,136,778 (GRCm39)	missense	probably benign
R7110:Ly75	UTSW	2	60,206,528 (GRCm39)	missense	probably benign	0.31
R7203:Ly75	UTSW	2	60,154,196 (GRCm39)	nonsense	probably null
R7291:Ly75	UTSW	2	60,160,337 (GRCm39)	missense	probably damaging	0.98
R7308:Ly75	UTSW	2	60,164,859 (GRCm39)	missense	probably benign	0.04
R7447:Ly75	UTSW	2	60,164,818 (GRCm39)	nonsense	probably null
R7512:Ly75	UTSW	2	60,164,907 (GRCm39)	missense	probably damaging	1.00
R7595:Ly75	UTSW	2	60,124,171 (GRCm39)	missense	probably benign	0.01
R7976:Ly75	UTSW	2	60,195,432 (GRCm39)	missense	probably damaging	1.00
R8005:Ly75	UTSW	2	60,163,278 (GRCm39)	missense	probably damaging	1.00
R8171:Ly75	UTSW	2	60,144,572 (GRCm39)	missense	possibly damaging	0.51
R8392:Ly75	UTSW	2	60,180,284 (GRCm39)	missense	probably benign	0.00
R8705:Ly75	UTSW	2	60,148,729 (GRCm39)	missense	probably damaging	0.98
R8714:Ly75	UTSW	2	60,164,829 (GRCm39)	missense	probably damaging	1.00
R8798:Ly75	UTSW	2	60,154,270 (GRCm39)	missense	probably benign	0.32
R8799:Ly75	UTSW	2	60,178,785 (GRCm39)	missense	probably damaging	1.00
R8834:Ly75	UTSW	2	60,161,433 (GRCm39)	missense	probably benign
R8990:Ly75	UTSW	2	60,188,903 (GRCm39)	missense	probably benign	0.10
R9015:Ly75	UTSW	2	60,146,442 (GRCm39)	missense	probably benign
R9547:Ly75	UTSW	2	60,161,069 (GRCm39)	critical splice donor site	probably null
R9628:Ly75	UTSW	2	60,158,285 (GRCm39)	missense	probably damaging	1.00
R9659:Ly75	UTSW	2	60,168,665 (GRCm39)	missense	probably damaging	1.00
R9660:Ly75	UTSW	2	60,154,184 (GRCm39)	missense	probably damaging	1.00
R9747:Ly75	UTSW	2	60,136,672 (GRCm39)	critical splice donor site	probably null
X0025:Ly75	UTSW	2	60,184,819 (GRCm39)	missense	probably damaging	1.00
Z1177:Ly75	UTSW	2	60,182,477 (GRCm39)	missense	possibly damaging	0.65
Z1177:Ly75	UTSW	2	60,180,348 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCGGACAAGCCTTATTTACATC -3'
(R):5'- CACTGCAGATAGCCCTCTACTTAC -3'

Sequencing Primer
(F):5'- ACACCGTACTTCCAAGTC -3'
(R):5'- CCTCTACTTACAGTACTATGAGCAGG -3'

Posted On

2018-11-28