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

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60306405 bp (GRCm38)

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 (GRCm38)	D1170G	probably benign	Het
Ak7	A	T	12: 105,710,244 (GRCm38)	T68S	probably benign	Het
Arhgap12	A	T	18: 6,111,901 (GRCm38)	N26K	probably damaging	Het
B3galt1	A	T	2: 68,118,689 (GRCm38)	E249D	probably damaging	Het
Catsper4	T	A	4: 134,227,337 (GRCm38)	M1L	probably benign	Het
Cc2d2b	T	C	19: 40,785,062 (GRCm38)	V523A	possibly damaging	Het
Ccn4	C	T	15: 66,919,198 (GRCm38)	T283M	probably benign	Het
Cyp11a1	T	C	9: 58,018,376 (GRCm38)	F98S	probably damaging	Het
Cyp2d26	T	C	15: 82,790,245 (GRCm38)	S479G	probably damaging	Het
Dclre1a	T	G	19: 56,542,709 (GRCm38)	Y735S	probably damaging	Het
Dio2	C	T	12: 90,729,897 (GRCm38)	G106R	probably damaging	Het
Efcab12	T	C	6: 115,838,312 (GRCm38)		probably benign	Het
Ehhadh	C	A	16: 21,762,278 (GRCm38)	V655L	probably benign	Het
Ercc2	G	A	7: 19,393,690 (GRCm38)	R379Q	probably damaging	Het
Fabp4	A	G	3: 10,208,477 (GRCm38)	V12A	probably benign	Het
Fbn1	T	C	2: 125,382,060 (GRCm38)	I590V	probably benign	Het
Grm8	C	A	6: 27,981,282 (GRCm38)	V210L	probably damaging	Het
Jakmip3	A	G	7: 139,023,336 (GRCm38)	D359G	probably damaging	Het
Lrit1	G	C	14: 37,060,095 (GRCm38)	V242L	probably damaging	Het
Lyst	A	G	13: 13,634,078 (GRCm38)	N111S	probably benign	Het
Lyz2	G	C	10: 117,278,702 (GRCm38)	I107M	possibly damaging	Het
Mgat5	A	T	1: 127,320,634 (GRCm38)	D91V	possibly damaging	Het
Mical3	T	A	6: 120,958,543 (GRCm38)	D1674V	probably damaging	Het
Myom2	G	A	8: 15,117,741 (GRCm38)	A1109T	probably null	Het
Naa16	A	G	14: 79,359,471 (GRCm38)	Y358H	possibly damaging	Het
Nktr	T	A	9: 121,742,692 (GRCm38)	H226Q	probably damaging	Het
Ocln	T	G	13: 100,498,872 (GRCm38)	K503T	possibly damaging	Het
Olfm4	T	C	14: 80,021,314 (GRCm38)	L301S	probably damaging	Het
Or4f4b	G	A	2: 111,483,726 (GRCm38)	V127I	possibly damaging	Het
Or6c74	T	C	10: 130,034,103 (GRCm38)	L159P	probably benign	Het
Paqr4	G	A	17: 23,737,723 (GRCm38)	A222V	probably benign	Het
Pcdhb13	A	G	18: 37,443,456 (GRCm38)	T296A	probably benign	Het
Phka2	G	A	X: 160,533,048 (GRCm38)	V230I	probably damaging	Het
Pigg	T	C	5: 108,326,841 (GRCm38)	V309A	probably damaging	Het
Ptger4	T	C	15: 5,234,715 (GRCm38)	R462G	probably benign	Het
Ptprc	C	T	1: 138,078,445 (GRCm38)		probably null	Het
Rabggta	A	C	14: 55,721,842 (GRCm38)		probably null	Het
Rnf25	A	G	1: 74,595,244 (GRCm38)	S207P	possibly damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,579,909 (GRCm38)		probably benign	Het
Rtf1	A	G	2: 119,711,078 (GRCm38)	Q264R	probably damaging	Het
Ryr2	A	G	13: 11,801,243 (GRCm38)	V619A	probably benign	Het
Serpinb6d	A	G	13: 33,671,198 (GRCm38)	N285S	probably benign	Het
Slamf6	A	G	1: 171,917,753 (GRCm38)	M16V	probably damaging	Het
Slc22a23	A	G	13: 34,344,157 (GRCm38)		probably null	Het
Slc23a2	T	C	2: 132,091,253 (GRCm38)	D95G	probably damaging	Het
Smc3	T	C	19: 53,629,371 (GRCm38)	Y600H	probably damaging	Het
Tarbp1	G	A	8: 126,429,039 (GRCm38)	T1320M	possibly damaging	Het
Tigd4	A	T	3: 84,594,116 (GRCm38)	K113N	probably damaging	Het
Tjp1	A	T	7: 65,303,015 (GRCm38)	F1444I	possibly damaging	Het
Tstd3	A	T	4: 21,767,118 (GRCm38)	M1K	probably null	Het
Zbtb46	T	C	2: 181,423,424 (GRCm38)	D311G	probably damaging	Het

Other mutations in Ly75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Ly75	APN	2	60,376,077 (GRCm38)	missense	probably damaging	1.00
IGL01072:Ly75	APN	2	60,354,496 (GRCm38)	missense	probably damaging	1.00
IGL01409:Ly75	APN	2	60,321,692 (GRCm38)	splice site	probably null
IGL01432:Ly75	APN	2	60,376,007 (GRCm38)	missense	probably damaging	1.00
IGL01626:Ly75	APN	2	60,301,015 (GRCm38)	missense	probably benign	0.13
IGL01690:Ly75	APN	2	60,338,311 (GRCm38)	missense	probably damaging	1.00
IGL01862:Ly75	APN	2	60,299,172 (GRCm38)	missense	probably damaging	1.00
IGL01982:Ly75	APN	2	60,311,764 (GRCm38)	missense	probably damaging	1.00
IGL02075:Ly75	APN	2	60,352,356 (GRCm38)	missense	probably damaging	0.99
IGL02338:Ly75	APN	2	60,354,452 (GRCm38)	missense	probably benign	0.04
IGL02364:Ly75	APN	2	60,358,507 (GRCm38)	missense	probably damaging	1.00
IGL02456:Ly75	APN	2	60,293,781 (GRCm38)	missense	probably benign	0.09
IGL02474:Ly75	APN	2	60,383,182 (GRCm38)	missense	probably null	1.00
IGL02608:Ly75	APN	2	60,321,900 (GRCm38)	missense	probably benign	0.41
IGL02986:Ly75	APN	2	60,308,191 (GRCm38)	missense	probably damaging	1.00
IGL03015:Ly75	APN	2	60,376,160 (GRCm38)	missense	probably damaging	1.00
IGL03049:Ly75	APN	2	60,352,070 (GRCm38)	missense	probably damaging	0.99
euphues	UTSW	2	60,299,045 (GRCm38)	critical splice donor site	probably null
four_score	UTSW	2	60,311,771 (GRCm38)	missense	possibly damaging	0.75
lyly	UTSW	2	60,327,873 (GRCm38)	missense	possibly damaging	0.49
Witty	UTSW	2	60,354,500 (GRCm38)	missense	probably damaging	1.00
D605:Ly75	UTSW	2	60,352,352 (GRCm38)	critical splice donor site	probably null
R0046:Ly75	UTSW	2	60,339,457 (GRCm38)	intron	probably benign
R0055:Ly75	UTSW	2	60,321,918 (GRCm38)	missense	probably benign	0.01
R0055:Ly75	UTSW	2	60,321,918 (GRCm38)	missense	probably benign	0.01
R0071:Ly75	UTSW	2	60,321,819 (GRCm38)	missense	probably benign	0.01
R0071:Ly75	UTSW	2	60,321,819 (GRCm38)	missense	probably benign	0.01
R0285:Ly75	UTSW	2	60,318,319 (GRCm38)	missense	probably damaging	1.00
R0387:Ly75	UTSW	2	60,306,404 (GRCm38)	missense	probably benign	0.20
R0492:Ly75	UTSW	2	60,308,276 (GRCm38)	missense	probably damaging	1.00
R0688:Ly75	UTSW	2	60,316,221 (GRCm38)	missense	probably benign	0.41
R1367:Ly75	UTSW	2	60,293,758 (GRCm38)	splice site	probably null
R1463:Ly75	UTSW	2	60,368,757 (GRCm38)	critical splice donor site	probably null
R1581:Ly75	UTSW	2	60,327,893 (GRCm38)	missense	probably damaging	1.00
R1663:Ly75	UTSW	2	60,314,234 (GRCm38)	missense	probably damaging	1.00
R1818:Ly75	UTSW	2	60,311,777 (GRCm38)	missense	probably damaging	1.00
R1881:Ly75	UTSW	2	60,349,940 (GRCm38)	missense	probably benign	0.00
R2244:Ly75	UTSW	2	60,349,913 (GRCm38)	missense	probably benign	0.01
R2905:Ly75	UTSW	2	60,334,554 (GRCm38)	missense	probably benign	0.00
R3967:Ly75	UTSW	2	60,327,873 (GRCm38)	missense	possibly damaging	0.49
R3968:Ly75	UTSW	2	60,327,873 (GRCm38)	missense	possibly damaging	0.49
R4039:Ly75	UTSW	2	60,352,995 (GRCm38)	missense	probably damaging	1.00
R4406:Ly75	UTSW	2	60,354,550 (GRCm38)	missense	probably damaging	1.00
R4526:Ly75	UTSW	2	60,330,773 (GRCm38)	missense	probably benign	0.09
R4647:Ly75	UTSW	2	60,308,278 (GRCm38)	missense	probably damaging	1.00
R4795:Ly75	UTSW	2	60,349,940 (GRCm38)	missense	probably benign	0.00
R4796:Ly75	UTSW	2	60,349,940 (GRCm38)	missense	probably benign	0.00
R4962:Ly75	UTSW	2	60,352,125 (GRCm38)	missense	probably damaging	1.00
R4979:Ly75	UTSW	2	60,375,894 (GRCm38)	missense	probably damaging	1.00
R5072:Ly75	UTSW	2	60,375,963 (GRCm38)	missense	probably damaging	1.00
R5288:Ly75	UTSW	2	60,303,641 (GRCm38)	missense	probably damaging	1.00
R5373:Ly75	UTSW	2	60,311,771 (GRCm38)	missense	possibly damaging	0.75
R5374:Ly75	UTSW	2	60,311,771 (GRCm38)	missense	possibly damaging	0.75
R5384:Ly75	UTSW	2	60,334,487 (GRCm38)	nonsense	probably null
R5385:Ly75	UTSW	2	60,303,641 (GRCm38)	missense	probably damaging	1.00
R5395:Ly75	UTSW	2	60,365,111 (GRCm38)	missense	probably benign	0.41
R5531:Ly75	UTSW	2	60,365,145 (GRCm38)	missense	probably damaging	0.98
R5662:Ly75	UTSW	2	60,352,381 (GRCm38)	missense	probably damaging	1.00
R5667:Ly75	UTSW	2	60,308,311 (GRCm38)	missense	probably damaging	1.00
R5668:Ly75	UTSW	2	60,354,500 (GRCm38)	missense	probably damaging	1.00
R5671:Ly75	UTSW	2	60,308,311 (GRCm38)	missense	probably damaging	1.00
R5677:Ly75	UTSW	2	60,299,082 (GRCm38)	missense	probably benign	0.00
R5764:Ly75	UTSW	2	60,318,439 (GRCm38)	missense	probably benign
R5896:Ly75	UTSW	2	60,383,146 (GRCm38)	missense	probably benign
R6025:Ly75	UTSW	2	60,375,962 (GRCm38)	missense	probably damaging	1.00
R6113:Ly75	UTSW	2	60,368,873 (GRCm38)	missense	probably benign	0.04
R6448:Ly75	UTSW	2	60,299,045 (GRCm38)	critical splice donor site	probably null
R6601:Ly75	UTSW	2	60,318,376 (GRCm38)	missense	probably benign	0.11
R6745:Ly75	UTSW	2	60,308,179 (GRCm38)	missense	probably damaging	1.00
R6955:Ly75	UTSW	2	60,327,873 (GRCm38)	missense	possibly damaging	0.49
R7100:Ly75	UTSW	2	60,306,434 (GRCm38)	missense	probably benign
R7110:Ly75	UTSW	2	60,376,184 (GRCm38)	missense	probably benign	0.31
R7203:Ly75	UTSW	2	60,323,852 (GRCm38)	nonsense	probably null
R7291:Ly75	UTSW	2	60,329,993 (GRCm38)	missense	probably damaging	0.98
R7308:Ly75	UTSW	2	60,334,515 (GRCm38)	missense	probably benign	0.04
R7447:Ly75	UTSW	2	60,334,474 (GRCm38)	nonsense	probably null
R7512:Ly75	UTSW	2	60,334,563 (GRCm38)	missense	probably damaging	1.00
R7595:Ly75	UTSW	2	60,293,827 (GRCm38)	missense	probably benign	0.01
R7976:Ly75	UTSW	2	60,365,088 (GRCm38)	missense	probably damaging	1.00
R8005:Ly75	UTSW	2	60,332,934 (GRCm38)	missense	probably damaging	1.00
R8171:Ly75	UTSW	2	60,314,228 (GRCm38)	missense	possibly damaging	0.51
R8392:Ly75	UTSW	2	60,349,940 (GRCm38)	missense	probably benign	0.00
R8705:Ly75	UTSW	2	60,318,385 (GRCm38)	missense	probably damaging	0.98
R8714:Ly75	UTSW	2	60,334,485 (GRCm38)	missense	probably damaging	1.00
R8798:Ly75	UTSW	2	60,323,926 (GRCm38)	missense	probably benign	0.32
R8799:Ly75	UTSW	2	60,348,441 (GRCm38)	missense	probably damaging	1.00
R8834:Ly75	UTSW	2	60,331,089 (GRCm38)	missense	probably benign
R8990:Ly75	UTSW	2	60,358,559 (GRCm38)	missense	probably benign	0.10
R9015:Ly75	UTSW	2	60,316,098 (GRCm38)	missense	probably benign
R9547:Ly75	UTSW	2	60,330,725 (GRCm38)	critical splice donor site	probably null
R9628:Ly75	UTSW	2	60,327,941 (GRCm38)	missense	probably damaging	1.00
R9659:Ly75	UTSW	2	60,338,321 (GRCm38)	missense	probably damaging	1.00
R9660:Ly75	UTSW	2	60,323,840 (GRCm38)	missense	probably damaging	1.00
R9747:Ly75	UTSW	2	60,306,328 (GRCm38)	critical splice donor site	probably null
X0025:Ly75	UTSW	2	60,354,475 (GRCm38)	missense	probably damaging	1.00
Z1177:Ly75	UTSW	2	60,352,133 (GRCm38)	missense	possibly damaging	0.65
Z1177:Ly75	UTSW	2	60,350,004 (GRCm38)	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