Mutagenetix > Incidental Mutation

Incidental Mutation 'R6601:Ly75'

525239

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

044725-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6601 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60318376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1203 (T1203I)

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: T1203I

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: T1203I

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: T1203I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: T1203I

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

0.1482

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

98% (41/42)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	G	1: 58,063,506 (GRCm38)	L527R	probably damaging	Het
Ccdc172	T	A	19: 58,537,291 (GRCm38)	C194S	possibly damaging	Het
Ccnb1ip1	G	T	14: 50,793,664 (GRCm38)	T64K	possibly damaging	Het
Ces1b	T	C	8: 93,079,481 (GRCm38)	E44G	probably benign	Het
Coro2a	A	T	4: 46,543,421 (GRCm38)	Y317*	probably null	Het
Csnk1a1	T	C	18: 61,578,758 (GRCm38)	F281S	probably damaging	Het
Ddx28	A	T	8: 106,010,616 (GRCm38)		probably null	Het
Dtnbp1	A	G	13: 44,931,245 (GRCm38)		probably null	Het
Eif2s1	T	C	12: 78,883,352 (GRCm38)	I258T	possibly damaging	Het
Elp3	T	C	14: 65,547,039 (GRCm38)	*554W	probably null	Het
Golga1	T	C	2: 39,020,106 (GRCm38)	M610V	probably damaging	Het
Hc	T	A	2: 35,045,894 (GRCm38)	K156N	probably benign	Het
Hcls1	G	A	16: 36,962,386 (GRCm38)	G428D	probably benign	Het
Il16	T	C	7: 83,722,469 (GRCm38)	D43G	probably damaging	Het
Klhl3	C	A	13: 58,095,116 (GRCm38)	K91N	probably damaging	Het
L3mbtl1	C	T	2: 162,948,175 (GRCm38)		probably benign	Het
Lamc3	T	C	2: 31,920,532 (GRCm38)	F805L	possibly damaging	Het
Lipg	T	C	18: 74,948,204 (GRCm38)	M269V	probably benign	Het
Mat1a	T	A	14: 41,105,604 (GRCm38)	V5E	probably benign	Het
Muc16	A	T	9: 18,637,570 (GRCm38)	L5809Q	probably benign	Het
Naip6	G	A	13: 100,283,758 (GRCm38)	R1335C	probably benign	Het
Ndufaf3	T	C	9: 108,566,217 (GRCm38)	H128R	probably benign	Het
Nphp4	A	T	4: 152,503,007 (GRCm38)		probably null	Het
Olfr52	T	A	2: 86,181,965 (GRCm38)	I49F	probably damaging	Het
Otop3	T	C	11: 115,339,847 (GRCm38)	V148A	probably damaging	Het
Ovgp1	T	C	3: 105,986,431 (GRCm38)		probably benign	Het
Pcsk5	T	G	19: 17,511,380 (GRCm38)	R1025S	probably benign	Het
Pkd1l2	T	C	8: 117,040,666 (GRCm38)	D1295G	probably benign	Het
Polr1d	T	A	5: 147,078,549 (GRCm38)	L14*	probably null	Het
Rab26	T	A	17: 24,529,621 (GRCm38)	K270*	probably null	Het
Rasgef1c	T	A	11: 49,971,419 (GRCm38)	N378K	probably damaging	Het
Rpl7a	T	C	2: 26,911,524 (GRCm38)	V76A	probably benign	Het
Samd9l	T	A	6: 3,377,229 (GRCm38)	I11F	possibly damaging	Het
Smarca2	C	A	19: 26,654,377 (GRCm38)	Q531K	probably benign	Het
Styxl1	C	G	5: 135,755,496 (GRCm38)	G211A	probably benign	Het
Taar9	T	C	10: 24,109,047 (GRCm38)	Y163C	probably damaging	Het
Tmem198	T	A	1: 75,480,373 (GRCm38)	F48I	possibly damaging	Het
Ttn	T	A	2: 76,764,729 (GRCm38)	N12032I	probably damaging	Het
Ubr7	T	A	12: 102,761,464 (GRCm38)	C82S	probably damaging	Het
Wwtr1	T	C	3: 57,575,738 (GRCm38)	E48G	possibly damaging	Het
Zfp108	T	C	7: 24,261,394 (GRCm38)	V470A	probably damaging	Het
Zfp612	C	A	8: 110,089,549 (GRCm38)	Q424K	possibly damaging	Het
Zscan4-ps1	T	C	7: 11,068,834 (GRCm38)	T13A	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
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
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'- CTTGCACCAGTTCTGTTGGG -3'
(R):5'- TCTCAAATGGTTGTCACAAGGATTC -3'

Sequencing Primer
(F):5'- TAAGAGATGTCTGCTCTCACCGAG -3'
(R):5'- GACAATGCTTAACACAGTACAAAATG -3'

Posted On

2018-06-22