Mutagenetix > Incidental Mutation

Incidental Mutation 'R6113:Ly75'

484937

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

044262-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 60368873 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 175 (I175L)

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: I175L

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: I175L

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: I175L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: I175L

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

noncoding transcript
Transcript: ENSMUST00000124654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151984

Meta Mutation Damage Score

0.1757

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	A	16: 8,572,900 (GRCm38)	T7N	probably benign	Het
Aldh1l2	G	T	10: 83,508,134 (GRCm38)	C359*	probably null	Het
Atpsckmt	T	C	15: 31,608,162 (GRCm38)	Y120H	probably damaging	Het
Bpifb6	G	A	2: 153,910,731 (GRCm38)	E384K	probably benign	Het
Chtf18	G	A	17: 25,722,867 (GRCm38)	R544C	probably damaging	Het
Cilp2	T	C	8: 69,882,359 (GRCm38)	D663G	probably benign	Het
Cplx3	T	A	9: 57,602,440 (GRCm38)	I92F	probably damaging	Het
Cr1l	T	C	1: 195,131,411 (GRCm38)		probably benign	Het
Cyp1a1	T	A	9: 57,701,891 (GRCm38)	F323I	probably damaging	Het
Dclk1	T	C	3: 55,489,819 (GRCm38)	Y186H	probably benign	Het
Dclre1c	T	C	2: 3,452,863 (GRCm38)	L261P	probably damaging	Het
Dcst2	T	C	3: 89,367,885 (GRCm38)	S312P	possibly damaging	Het
Dnah17	A	G	11: 118,126,275 (GRCm38)	L213P	probably damaging	Het
Dnd1	T	A	18: 36,765,395 (GRCm38)	Y102F	probably damaging	Het
Dnm1l	T	C	16: 16,341,003 (GRCm38)	N121S	probably benign	Het
Dsp	T	A	13: 38,192,047 (GRCm38)	N1269K	probably damaging	Het
Dync1h1	T	C	12: 110,620,414 (GRCm38)	V943A	probably benign	Het
Eml5	T	A	12: 98,824,674 (GRCm38)	K1322*	probably null	Het
Fgf23	A	G	6: 127,078,154 (GRCm38)	T76A	probably benign	Het
Fgf6	T	C	6: 127,015,937 (GRCm38)		probably null	Het
Fkbp15	G	A	4: 62,340,647 (GRCm38)	T124I	probably benign	Het
Gm12185	A	T	11: 48,915,340 (GRCm38)	H341Q	possibly damaging	Het
Gm20647	A	G	5: 72,329,800 (GRCm38)		probably benign	Het
Lrp2	G	C	2: 69,483,557 (GRCm38)	R2277G	possibly damaging	Het
Lrrc69	T	C	4: 14,708,673 (GRCm38)	T224A	probably benign	Het
Morc2b	G	T	17: 33,138,068 (GRCm38)	Y243*	probably null	Het
Myo18b	C	G	5: 112,866,385 (GRCm38)	D764H	probably damaging	Het
Naip6	T	C	13: 100,299,286 (GRCm38)	S910G	possibly damaging	Het
Nbeal1	T	A	1: 60,222,263 (GRCm38)	I21N	possibly damaging	Het
P3h2	A	T	16: 25,981,153 (GRCm38)	I430K	probably benign	Het
Pcdh9	A	G	14: 93,887,108 (GRCm38)	V542A	probably damaging	Het
Pkp3	T	A	7: 141,082,656 (GRCm38)	N60K	probably damaging	Het
Pold1	C	A	7: 44,537,700 (GRCm38)	G686C	probably damaging	Het
Prdm6	T	A	18: 53,473,601 (GRCm38)	L58Q	probably damaging	Het
Rab13	C	A	3: 90,224,866 (GRCm38)	R86S	probably benign	Het
Rad21l	A	C	2: 151,657,478 (GRCm38)	L265V	probably damaging	Het
Rec8	G	A	14: 55,622,478 (GRCm38)	A228T	probably damaging	Het
Rgs12	C	A	5: 35,020,323 (GRCm38)	R76S	probably damaging	Het
Sfmbt1	A	G	14: 30,815,184 (GRCm38)	N670D	possibly damaging	Het
Slc17a7	A	G	7: 45,174,751 (GRCm38)	T464A	possibly damaging	Het
Srcap	C	A	7: 127,560,281 (GRCm38)		probably benign	Het
Srgap2	A	T	1: 131,355,505 (GRCm38)		probably null	Het
Tenm1	C	T	X: 42,827,195 (GRCm38)	G404E	probably damaging	Het
Thpo	C	A	16: 20,728,847 (GRCm38)		probably benign	Het
Tle4	A	T	19: 14,595,588 (GRCm38)		probably null	Het
Tnfrsf14	T	C	4: 154,924,492 (GRCm38)	Q74R	possibly damaging	Het
Trav15-2-dv6-2	T	G	14: 53,649,725 (GRCm38)	V34G	probably benign	Het
Trbv13-1	C	T	6: 41,116,379 (GRCm38)	A82V	probably benign	Het
Trib1	C	T	15: 59,651,638 (GRCm38)	R174*	probably null	Het
Trpv3	G	A	11: 73,286,018 (GRCm38)	V408I	probably benign	Het
Tyk2	A	T	9: 21,107,922 (GRCm38)	V1068E	probably damaging	Het
Usp35	A	G	7: 97,324,326 (GRCm38)	S230P	probably damaging	Het
Utp25	T	C	1: 193,129,502 (GRCm38)	I46V	probably null	Het
Vav1	T	A	17: 57,301,884 (GRCm38)	D349E	probably benign	Het
Vcan	T	A	13: 89,657,536 (GRCm38)	R114*	probably null	Het
Vmn1r25	T	C	6: 57,978,572 (GRCm38)	E244G	probably benign	Het
Vmn2r5	T	C	3: 64,491,399 (GRCm38)	T720A	probably benign	Het
Wdr72	T	A	9: 74,152,641 (GRCm38)	D444E	probably benign	Het
Zfhx3	T	A	8: 108,947,421 (GRCm38)	M1701K	probably benign	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
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'- GCTGCAGACATGTTAAGTCCTC -3'
(R):5'- GGCCTGCTCAGATATTGTAGG -3'

Sequencing Primer
(F):5'- GCAGACATGTTAAGTCCTCTTAAAC -3'
(R):5'- CTGCTCAGATATTGTAGGCTCATAAG -3'

Posted On

2017-08-16