Mutagenetix > Incidental Mutation

Incidental Mutation 'R9547:Ly75'

720157

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 60330725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028362 (fasta)

Gene Model

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

AlphaFold

Q60767

Predicted Effect

probably null
Transcript: ENSMUST00000028362

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980

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

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

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
Abtb1	C	T	6: 88,838,935 (GRCm38)	V185M	probably damaging	Het
Acod1	A	T	14: 103,054,858 (GRCm38)	S273C	probably benign	Het
Aifm3	T	C	16: 17,499,740 (GRCm38)	V75A	probably benign	Het
Anks1	T	C	17: 28,051,774 (GRCm38)	L845P	probably damaging	Het
Apc	A	G	18: 34,312,258 (GRCm38)	K736E	possibly damaging	Het
Atad2	A	G	15: 58,126,577 (GRCm38)	S168P	probably damaging	Het
Cand2	G	A	6: 115,782,796 (GRCm38)	A143T	probably benign	Het
Cep290	A	T	10: 100,544,979 (GRCm38)	H116L	probably benign	Het
Chd9	G	A	8: 90,956,558 (GRCm38)	R542H	unknown	Het
Crnkl1	T	C	2: 145,930,630 (GRCm38)	M176V	possibly damaging	Het
Dnah14	A	C	1: 181,593,427 (GRCm38)		probably null	Het
Dync1h1	A	G	12: 110,658,371 (GRCm38)	E3744G	probably damaging	Het
Ednrb	T	C	14: 103,843,023 (GRCm38)	I152V	probably benign	Het
Epha8	G	T	4: 136,938,586 (GRCm38)	L420M	probably damaging	Het
Fat3	A	T	9: 15,999,846 (GRCm38)	I1620N	possibly damaging	Het
Fbxo4	G	A	15: 3,969,011 (GRCm38)	P322S	probably damaging	Het
Fbxw10	G	T	11: 62,876,821 (GRCm38)	V828F	possibly damaging	Het
Gm7579	CTGTGTG	CTGTG	7: 142,211,999 (GRCm38)		probably null	Het
Gm8298	G	T	3: 59,865,235 (GRCm38)	M53I	probably benign	Het
Gmip	T	C	8: 69,820,731 (GRCm38)	S891P	possibly damaging	Het
Grb10	A	G	11: 11,943,919 (GRCm38)	I389T	probably benign	Het
Grip1	G	A	10: 120,038,664 (GRCm38)	E778K	possibly damaging	Het
Hhatl	A	G	9: 121,789,583 (GRCm38)	Y118H	probably damaging	Het
Ighv1-69	A	G	12: 115,623,265 (GRCm38)	F83L	possibly damaging	Het
Intu	G	A	3: 40,654,106 (GRCm38)	V183I	probably benign	Het
Ipo4	A	G	14: 55,633,332 (GRCm38)		probably null	Het
Kdm4c	A	C	4: 74,404,867 (GRCm38)	D1012A	possibly damaging	Het
Klrc2	C	G	6: 129,656,849 (GRCm38)	A188P	probably benign	Het
Lipc	T	C	9: 70,820,864 (GRCm38)	D104G	unknown	Het
Lrrc63	A	T	14: 75,107,388 (GRCm38)	L420M	probably damaging	Het
Mrpl50	T	A	4: 49,514,338 (GRCm38)	H111L	probably damaging	Het
Mtmr9	A	G	14: 63,542,406 (GRCm38)	I78T	possibly damaging	Het
Npepl1	A	G	2: 174,120,237 (GRCm38)	D304G	probably null	Het
Nphs1	C	T	7: 30,481,450 (GRCm38)	S1093F	probably benign	Het
Olfr136	G	T	17: 38,335,450 (GRCm38)	V98F	possibly damaging	Het
Olfr195	T	C	16: 59,149,744 (GRCm38)	I298T	possibly damaging	Het
Olfr938	G	A	9: 39,078,631 (GRCm38)	T38I	probably damaging	Het
Pcdh18	A	T	3: 49,755,057 (GRCm38)	I603K	possibly damaging	Het
Pdcd6ip	A	T	9: 113,655,106 (GRCm38)	Y818N	unknown	Het
Phf10	A	G	17: 14,946,197 (GRCm38)		probably null	Het
Phgdh	A	G	3: 98,334,634 (GRCm38)	S55P	probably damaging	Het
Poll	G	T	19: 45,557,920 (GRCm38)	P227H	probably benign	Het
Prdm2	A	T	4: 143,134,991 (GRCm38)	S576R	probably damaging	Het
Psg26	T	C	7: 18,480,162 (GRCm38)	I192V	probably benign	Het
Rpgrip1l	T	C	8: 91,251,245 (GRCm38)	D1038G	probably benign	Het
Snx18	A	G	13: 113,617,218 (GRCm38)	M393T	possibly damaging	Het
Srsf11	A	G	3: 158,012,098 (GRCm38)	C448R	unknown	Het
Sv2c	A	G	13: 96,048,500 (GRCm38)	I223T	probably benign	Het
Tbc1d1	T	C	5: 64,173,607 (GRCm38)	V43A	possibly damaging	Het
Tex21	T	C	12: 76,206,817 (GRCm38)	T441A	probably damaging	Het
Thnsl2	T	A	6: 71,139,826 (GRCm38)	D114V	probably damaging	Het
Trpm2	A	G	10: 77,912,633 (GRCm38)	V1401A	probably benign	Het
Ttll6	T	C	11: 96,158,762 (GRCm38)	S769P	probably benign	Het
Uba5	A	G	9: 104,054,368 (GRCm38)	S222P	probably damaging	Het
Ublcp1	T	C	11: 44,456,424 (GRCm38)	Y290C	probably damaging	Het
Vmn1r216	A	T	13: 23,099,285 (GRCm38)	D46V	probably damaging	Het
Wdr17	A	T	8: 54,659,700 (GRCm38)	F789I	probably damaging	Het
Zcchc11	A	G	4: 108,513,232 (GRCm38)	D776G	probably benign	Het
Zfp266	A	G	9: 20,500,450 (GRCm38)	S144P	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
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
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'- CAAACGTGTCTGTCTGCTTATC -3'
(R):5'- TTTGGGATCAAAGGAGTGGC -3'

Sequencing Primer
(F):5'- TGAGGGTAAAAGAACTGAACATATCC -3'
(R):5'- GCACTACAAGTTCTCACC -3'

Posted On

2022-07-18