Mutagenetix > Incidental Mutation

Incidental Mutation 'R5373:Ly75'

428846

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

042949-MU

Accession Numbers

Genbank: NM_013825

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60311771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 1332 (L1332M)

Ref Sequence

ENSEMBL: ENSMUSP00000028362 (fasta)

Gene Model

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

AlphaFold

Q60767

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028362
AA Change: L1332M

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: L1332M

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: L1332M

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: L1332M

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (74/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,635 (GRCm38)	S862G	probably benign	Het
2410089E03Rik	T	C	15: 8,270,803 (GRCm38)	V3198A	unknown	Het
Abcb5	G	T	12: 118,887,177 (GRCm38)	T887K	probably damaging	Het
Adgrf1	G	A	17: 43,291,005 (GRCm38)		probably benign	Het
Adss	T	G	1: 177,796,388 (GRCm38)	I3L	probably benign	Het
Anapc7	T	A	5: 122,438,217 (GRCm38)	D302E	probably benign	Het
Ank3	A	G	10: 69,953,476 (GRCm38)		probably null	Het
Arpp21	T	G	9: 112,067,268 (GRCm38)	M687L	probably benign	Het
Camkv	T	C	9: 107,946,889 (GRCm38)	S221P	probably benign	Het
Ccdc88a	C	T	11: 29,463,409 (GRCm38)	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,912 (GRCm38)	S613R	probably damaging	Het
Chsy1	C	T	7: 66,110,076 (GRCm38)	Q56*	probably null	Het
Cisd2	A	G	3: 135,408,835 (GRCm38)	V125A	probably benign	Het
Cntnap2	T	A	6: 47,107,969 (GRCm38)	H1121Q	probably benign	Het
Corin	A	T	5: 72,304,953 (GRCm38)	C876S	probably damaging	Het
Cspp1	T	G	1: 10,134,126 (GRCm38)	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,504,938 (GRCm38)	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,823,614 (GRCm38)	D739G	probably benign	Het
Dmxl2	A	G	9: 54,369,189 (GRCm38)		probably benign	Het
Dnajc6	T	C	4: 101,615,627 (GRCm38)	I317T	probably damaging	Het
Dpysl3	T	C	18: 43,361,036 (GRCm38)	Y193C	probably damaging	Het
Dtna	T	C	18: 23,651,613 (GRCm38)	Y730H	probably damaging	Het
Dusp3	A	G	11: 101,984,625 (GRCm38)	Y38H	possibly damaging	Het
Eif3m	A	T	2: 105,012,932 (GRCm38)	I151N	probably damaging	Het
Eml2	A	T	7: 19,179,263 (GRCm38)	D62V	possibly damaging	Het
Epb41l3	C	A	17: 69,286,800 (GRCm38)	H810N	probably damaging	Het
Evc2	C	T	5: 37,378,210 (GRCm38)	R410W	probably damaging	Het
Fam169b	T	C	7: 68,300,838 (GRCm38)	Y13H	probably damaging	Het
Fcrl5	A	G	3: 87,446,391 (GRCm38)	T348A	probably benign	Het
Fezf2	A	T	14: 12,344,803 (GRCm38)	V128E	possibly damaging	Het
Ighv3-5	A	G	12: 114,262,953 (GRCm38)	S18P	probably damaging	Het
Kcnq5	T	A	1: 21,961,571 (GRCm38)	H4L	unknown	Het
Kdm5d	C	T	Y: 927,995 (GRCm38)	P756S	probably benign	Het
Lig1	AG	A	7: 13,305,923 (GRCm38)		probably null	Het
Med1	T	A	11: 98,163,963 (GRCm38)	K378N	probably damaging	Het
Mn1	A	G	5: 111,421,886 (GRCm38)		probably null	Het
Mpo	T	C	11: 87,803,611 (GRCm38)		probably null	Het
Mtfr2	G	T	10: 20,352,852 (GRCm38)	C48F	probably benign	Het
Nt5c	G	A	11: 115,490,817 (GRCm38)		probably null	Het
Pcdhga4	T	C	18: 37,685,596 (GRCm38)	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,312,561 (GRCm38)	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,186,395 (GRCm38)	C222S	probably benign	Het
Plch1	A	C	3: 63,698,078 (GRCm38)	H1468Q	probably benign	Het
Psd2	T	A	18: 36,007,503 (GRCm38)	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,251,186 (GRCm38)	K548N	probably damaging	Het
Ptpn14	T	C	1: 189,850,963 (GRCm38)	M669T	probably benign	Het
Ptprf	G	T	4: 118,226,041 (GRCm38)	T923K	possibly damaging	Het
Ptprg	A	G	14: 12,213,665 (GRCm38)	N1011S	probably benign	Het
Ptprz1	T	A	6: 23,007,355 (GRCm38)	V1639E	probably damaging	Het
Rgsl1	C	T	1: 153,790,307 (GRCm38)	V986I	probably benign	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Rxfp2	A	G	5: 150,070,260 (GRCm38)	T596A	probably benign	Het
Serpina3j	A	G	12: 104,314,727 (GRCm38)	D53G	probably damaging	Het
Slc26a7	A	T	4: 14,546,447 (GRCm38)	I294N	probably damaging	Het
Slirp	T	C	12: 87,449,422 (GRCm38)	S96P	possibly damaging	Het
Snx6	T	C	12: 54,770,728 (GRCm38)	E128G	probably damaging	Het
Spata6	T	A	4: 111,822,834 (GRCm38)		probably null	Het
Stap1	A	G	5: 86,090,928 (GRCm38)	T152A	possibly damaging	Het
Susd5	G	A	9: 114,082,585 (GRCm38)	G188R	probably damaging	Het
Thap2	A	T	10: 115,372,839 (GRCm38)	Y125*	probably null	Het
Tnrc18	G	A	5: 142,740,156 (GRCm38)	R1793C	unknown	Het
Ugt1a10	T	A	1: 88,055,910 (GRCm38)	D143E	probably damaging	Het
Vmn1r85	A	T	7: 13,084,328 (GRCm38)	Y296*	probably null	Het
Vmn2r71	C	T	7: 85,618,542 (GRCm38)	T68I	possibly damaging	Het
Zc3h6	A	T	2: 129,002,156 (GRCm38)	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,913,510 (GRCm38)	S628P	probably benign	Het
Zfp85	T	C	13: 67,749,458 (GRCm38)	Y165C	probably damaging	Het
Zufsp	T	C	10: 33,927,466 (GRCm38)	N541D	possibly 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
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
R6960:Ly75	UTSW	2	60,306,405 (GRCm38)	missense	probably benign
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'- GGTGACTAAGACTCTTACCCATTTC -3'
(R):5'- ACAGGCTACTAAAGAGTGGAATTAC -3'

Sequencing Primer
(F):5'- CTTACCCATTTCAATTTTACAAGCAG -3'
(R):5'- CAGACAACCTTTTAGATGGT -3'

Posted On

2016-09-06