Mutagenetix > Incidental Mutation

Incidental Mutation 'R7110:Ly75'

551429

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

045202-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7110 (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 60206528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 47 (I47T)

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: I47T

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: I47T

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: I47T

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: I47T

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

0.5525

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,571 (GRCm39)	T184A	possibly damaging	Het
Abca4	T	A	3: 121,926,292 (GRCm39)	Y1243N	probably damaging	Het
Adamts7	A	G	9: 90,076,017 (GRCm39)	T1250A	possibly damaging	Het
Adgrg3	T	C	8: 95,761,591 (GRCm39)	V118A	possibly damaging	Het
Agrn	A	G	4: 156,263,332 (GRCm39)	V364A	possibly damaging	Het
Cacna2d1	C	A	5: 16,562,782 (GRCm39)	L853I	probably damaging	Het
Ccdc25	A	G	14: 66,094,165 (GRCm39)	K124R	probably benign	Het
Ccdc73	A	G	2: 104,803,569 (GRCm39)	M236V	probably benign	Het
Cdh1	G	A	8: 107,395,176 (GRCm39)	D862N	possibly damaging	Het
Cdh5	A	G	8: 104,867,400 (GRCm39)	D559G	probably damaging	Het
Celsr2	C	A	3: 108,305,181 (GRCm39)	G2133C	probably damaging	Het
Chd5	A	G	4: 152,469,896 (GRCm39)	N1823S	probably damaging	Het
Cog7	T	C	7: 121,534,999 (GRCm39)	N562S	probably damaging	Het
Dcaf6	A	T	1: 165,179,537 (GRCm39)	S534R	probably benign	Het
Donson	G	A	16: 91,479,009 (GRCm39)	R436*	probably null	Het
Fam53c	T	A	18: 34,895,523 (GRCm39)		probably null	Het
Foxi3	A	G	6: 70,937,730 (GRCm39)	T321A	probably benign	Het
Frmd4b	A	T	6: 97,273,192 (GRCm39)	Y733*	probably null	Het
Fscn2	A	T	11: 120,257,580 (GRCm39)	T314S	probably benign	Het
Gfral	A	G	9: 76,072,112 (GRCm39)	I386T	possibly damaging	Het
Gm21698	T	C	5: 26,190,175 (GRCm39)	E174G	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gprin1	T	C	13: 54,887,056 (GRCm39)	D406G	probably benign	Het
Habp2	A	T	19: 56,299,596 (GRCm39)	R128*	probably null	Het
Hoxc10	A	T	15: 102,879,356 (GRCm39)	Y292F	probably damaging	Het
Hydin	A	T	8: 111,081,583 (GRCm39)		probably null	Het
Igkv12-89	T	C	6: 68,812,115 (GRCm39)	D18G	probably damaging	Het
Jhy	T	C	9: 40,828,556 (GRCm39)	N450S	probably damaging	Het
Klhl18	T	A	9: 110,279,833 (GRCm39)	Q119L	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lsmem1	A	T	12: 40,235,272 (GRCm39)		probably null	Het
Med12l	C	A	3: 59,169,645 (GRCm39)	T1603K	possibly damaging	Het
Mgat5	A	G	1: 127,310,716 (GRCm39)	D210G	possibly damaging	Het
Mgmt	G	T	7: 136,687,715 (GRCm39)	G55W	probably damaging	Het
Mrpl57	G	A	14: 58,063,754 (GRCm39)		probably benign	Het
Mtg1	G	A	7: 139,726,779 (GRCm39)	R209Q	probably benign	Het
Muc21	CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT	17: 35,933,510 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,353,559 (GRCm39)	C826W	possibly damaging	Het
Myot	A	G	18: 44,474,453 (GRCm39)	D146G	probably damaging	Het
Nlrp4f	T	A	13: 65,347,160 (GRCm39)	I11F	probably damaging	Het
Nsun5	T	A	5: 135,400,104 (GRCm39)	Y76N	probably damaging	Het
Or7a42	A	T	10: 78,791,284 (GRCm39)	M82L	possibly damaging	Het
Pcdhb3	A	G	18: 37,435,975 (GRCm39)	N647S	possibly damaging	Het
Pdgfra	T	A	5: 75,349,895 (GRCm39)	Y926*	probably null	Het
Pdzd2	A	T	15: 12,368,099 (GRCm39)	L2630H	probably damaging	Het
Phox2b	G	A	5: 67,253,505 (GRCm39)	S297L	unknown	Het
Polr3e	T	A	7: 120,539,510 (GRCm39)		probably null	Het
Ppp4r2	T	A	6: 100,842,823 (GRCm39)	V238E	probably damaging	Het
Proc	A	T	18: 32,266,441 (GRCm39)	F129I	probably benign	Het
Sgca	T	A	11: 94,854,227 (GRCm39)		probably null	Het
Slc7a10	A	G	7: 34,899,009 (GRCm39)	H360R	probably benign	Het
Slurp2	G	A	15: 74,614,964 (GRCm39)	T59I	probably benign	Het
Son	A	G	16: 91,453,406 (GRCm39)	T718A	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spink7	T	C	18: 62,727,338 (GRCm39)	N62S	probably damaging	Het
Stxbp3	C	A	3: 108,723,649 (GRCm39)	R195S	probably damaging	Het
Sulf1	G	A	1: 12,908,825 (GRCm39)	V613M	probably damaging	Het
Tbc1d9b	A	T	11: 50,054,657 (GRCm39)	I934F	probably benign	Het
Tecpr2	T	G	12: 110,885,406 (GRCm39)	L195R	probably damaging	Het
Tns2	G	C	15: 102,013,801 (GRCm39)	C71S	probably damaging	Het
Tulp4	C	T	17: 6,282,055 (GRCm39)	H695Y	probably damaging	Het
Usp40	G	T	1: 87,913,884 (GRCm39)	T403K	probably benign	Het
Vat1	G	T	11: 101,356,539 (GRCm39)	R141S	possibly damaging	Het
Vmn2r28	T	G	7: 5,493,733 (GRCm39)	N71T	probably benign	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
R7100:Ly75	UTSW	2	60,136,778 (GRCm39)	missense	probably benign
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'- GGTGCTCACATTTCCACCACAG -3'
(R):5'- GTGACCCTCACTTCTTGTGG -3'

Sequencing Primer
(F):5'- TTTCCACCACAGCATGACGG -3'
(R):5'- GATTCGTGAGTTTACCAAGCCCAAG -3'

Posted On

2019-05-15