Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Ly75'

550744

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

045192-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60122447-60213617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60136778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1483 (L1483P)

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: L1483P

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

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: L1483P

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: L1483P

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

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: L1483P

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,394,315 (GRCm39)	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,419,016 (GRCm39)	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,372,936 (GRCm39)		probably null	Het
Amph	T	C	13: 19,334,011 (GRCm39)	*691Q	probably null	Het
Ankrd55	A	G	13: 112,492,644 (GRCm39)	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,244,126 (GRCm39)	V838I	possibly damaging	Het
Arl2	C	A	19: 6,184,774 (GRCm39)	V160F	probably benign	Het
Catsperb	T	C	12: 101,412,297 (GRCm39)	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,710,050 (GRCm39)	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,480,314 (GRCm39)	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 131,656,544 (GRCm39)	A573T	probably benign	Het
Cspg4b	T	A	13: 113,455,501 (GRCm39)	F516I		Het
Daxx	T	C	17: 34,130,416 (GRCm39)	S144P	probably damaging	Het
Dpp3	T	C	19: 4,968,069 (GRCm39)	D303G	probably damaging	Het
Fam181a	T	A	12: 103,282,132 (GRCm39)	N12K	probably damaging	Het
Flg2	A	T	3: 93,111,018 (GRCm39)	R1015S	unknown	Het
Fstl5	A	G	3: 76,443,600 (GRCm39)	H315R	probably benign	Het
Fut4	A	G	9: 14,662,689 (GRCm39)	S202P	probably damaging	Het
Gm5114	T	C	7: 39,057,708 (GRCm39)	D637G	possibly damaging	Het
Gstcd	G	T	3: 132,790,704 (GRCm39)	T21K	probably benign	Het
Heca	C	T	10: 17,791,121 (GRCm39)	V312M	probably benign	Het
Herpud1	A	G	8: 95,117,475 (GRCm39)	R144G	probably damaging	Het
Hycc2	T	A	1: 58,573,653 (GRCm39)	T384S	possibly damaging	Het
Ino80	A	G	2: 119,204,994 (GRCm39)	S1511P	possibly damaging	Het
Irf2bp2	T	C	8: 127,318,472 (GRCm39)	T365A	probably benign	Het
Klk1	G	A	7: 43,878,848 (GRCm39)	G214E	probably damaging	Het
Lama3	A	T	18: 12,715,701 (GRCm39)	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,392,297 (GRCm39)	I365T	probably damaging	Het
Lrp8	C	A	4: 107,659,647 (GRCm39)	A13E	possibly damaging	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Mid1	A	G	X: 168,768,073 (GRCm39)	D407G	probably benign	Het
Mpl	G	T	4: 118,314,607 (GRCm39)	A21E		Het
Mus81	C	T	19: 5,534,239 (GRCm39)	G360S	probably damaging	Het
Nmt2	T	A	2: 3,313,950 (GRCm39)	S250T	probably benign	Het
Nr1d1	C	A	11: 98,662,160 (GRCm39)	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,039,153 (GRCm39)	P36S	unknown	Het
Pcnx2	G	A	8: 126,485,853 (GRCm39)	A1915V	probably benign	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,476,689 (GRCm39)	N262S	probably benign	Het
Plaat5	T	A	19: 7,616,923 (GRCm39)	F313I	unknown	Het
Ppp2r5d	A	G	17: 46,996,608 (GRCm39)	V355A	probably benign	Het
Rasa3	T	C	8: 13,636,897 (GRCm39)	T395A	probably benign	Het
Rims1	T	A	1: 22,416,697 (GRCm39)	I432F	probably benign	Het
Rnf123	C	T	9: 107,933,838 (GRCm39)	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,204,570 (GRCm39)		probably benign	Het
Shank2	T	A	7: 143,964,901 (GRCm39)	D836E	possibly damaging	Het
Slc24a5	A	C	2: 124,922,591 (GRCm39)	S118R	probably damaging	Het
Smg1	G	T	7: 117,783,743 (GRCm39)	H1048N	unknown	Het
Specc1l	T	G	10: 75,081,329 (GRCm39)	S242A	probably benign	Het
Tagap1	A	T	17: 7,224,111 (GRCm39)	L195Q	possibly damaging	Het
Trpc3	C	A	3: 36,704,216 (GRCm39)	E580D	probably benign	Het
Ttn	A	T	2: 76,541,166 (GRCm39)	V33940E	probably benign	Het
Upp2	G	T	2: 58,681,817 (GRCm39)	R318L	probably benign	Het
Vezt	T	A	10: 93,832,795 (GRCm39)	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,565,535 (GRCm39)	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,315,513 (GRCm39)	E769*	probably null	Het
Vnn3	T	C	10: 23,741,840 (GRCm39)	Y382H	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
R6960:Ly75	UTSW	2	60,136,749 (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'- TTTGCGGACAAGCCTTATTTACATC -3'
(R):5'- CTGCAGATAGCCCTCTACTTACAG -3'

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

Posted On

2019-05-15