Mutagenetix > Incidental Mutation

Incidental Mutation 'R3968:Ly75'

312424

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

040936-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3968 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60122447-60213617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60158217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1023 (I1023V)

Ref Sequence

ENSEMBL: ENSMUSP00000108152 (fasta)

Gene Model

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

AlphaFold

Q60767

Predicted Effect

probably benign
Transcript: ENSMUST00000028362
AA Change: I1023V

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: I1023V

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

possibly damaging
Transcript: ENSMUST00000112533
AA Change: I1023V

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: I1023V

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

0.7518

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.1%

Validation Efficiency

98% (40/41)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef12	C	A	9: 42,916,847 (GRCm39)	R432L	probably damaging	Het
Camk4	T	A	18: 33,312,634 (GRCm39)	I258N	possibly damaging	Het
Cdhr2	A	T	13: 54,874,271 (GRCm39)	N781I	probably damaging	Het
Cela1	C	T	15: 100,582,534 (GRCm39)	G93S	probably damaging	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Cysltr2	A	G	14: 73,267,614 (GRCm39)	I32T	probably damaging	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fcho2	A	T	13: 98,871,564 (GRCm39)	S551T	probably benign	Het
Fzd8	T	C	18: 9,214,070 (GRCm39)	V384A	probably damaging	Het
Gm14401	T	C	2: 176,778,789 (GRCm39)	Y292H	possibly damaging	Het
H2-M2	C	T	17: 37,792,197 (GRCm39)	G318S	possibly damaging	Het
Il21r	G	T	7: 125,227,215 (GRCm39)		probably null	Het
Itgam	T	C	7: 127,712,205 (GRCm39)	Y697H	probably damaging	Het
Itpkb	A	T	1: 180,155,363 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Narf	A	T	11: 121,129,247 (GRCm39)	E10D	possibly damaging	Het
Net1	A	G	13: 3,957,795 (GRCm39)		probably null	Het
Nlrx1	A	T	9: 44,166,722 (GRCm39)		probably benign	Het
Oard1	T	C	17: 48,722,282 (GRCm39)	Y93H	probably damaging	Het
Or4n5	A	T	14: 50,132,983 (GRCm39)	I92N	probably damaging	Het
Or8b54	A	G	9: 38,686,664 (GRCm39)	T38A	probably benign	Het
Pcm1	T	C	8: 41,778,867 (GRCm39)	L1825P	probably damaging	Het
Pecr	G	A	1: 72,315,468 (GRCm39)	T94I	probably damaging	Het
Piezo2	A	T	18: 63,144,767 (GRCm39)	V2776E	probably damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Ppfia2	T	A	10: 106,742,382 (GRCm39)	D1058E	probably damaging	Het
Ppl	T	C	16: 4,918,196 (GRCm39)		probably null	Het
Rab39	G	A	9: 53,597,932 (GRCm39)	A111V	possibly damaging	Het
Sema3g	T	C	14: 30,948,478 (GRCm39)		probably null	Het
Slc19a1	T	C	10: 76,877,680 (GRCm39)	Y72H	probably damaging	Het
Sntb2	T	A	8: 107,723,772 (GRCm39)	Y340*	probably null	Het
Srrm4	A	G	5: 116,582,803 (GRCm39)		probably benign	Het
Ssb	C	T	2: 69,697,793 (GRCm39)		probably benign	Het
Sval2	T	A	6: 41,838,861 (GRCm39)	V14E	probably damaging	Het
Tmc2	T	G	2: 130,043,991 (GRCm39)	V75G	probably benign	Het
Tnnc2	T	C	2: 164,619,457 (GRCm39)	E129G	possibly damaging	Het
Vmn2r94	C	A	17: 18,478,647 (GRCm39)	Q33H	possibly damaging	Het
Yap1	C	T	9: 7,973,877 (GRCm39)	R188Q	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
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
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'- ATAAATGGAACTGTGCATTGGGC -3'
(R):5'- TTAGAGAAGGCAAAAGGCTATCTTG -3'

Sequencing Primer
(F):5'- GAGACAGGGTTTCCTATATCCCAG -3'
(R):5'- ACACTCATATGTGACGATCAGAG -3'

Posted On

2015-04-29