Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Ly75'

171378

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

039618-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60327893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 1016 (R1016H)

Ref Sequence

ENSEMBL: ENSMUSP00000028362 (fasta)

Gene Model

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

AlphaFold

Q60767

Predicted Effect

probably damaging
Transcript: ENSMUST00000028362
AA Change: R1016H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: R1016H

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 damaging
Transcript: ENSMUST00000112533
AA Change: R1016H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: R1016H

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: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,179,144 (GRCm38)	E447G	probably benign	Het
Actn4	T	C	7: 28,898,646 (GRCm38)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,094,072 (GRCm38)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,199,878 (GRCm38)	A349T	probably benign	Het
Auh	G	A	13: 52,835,496 (GRCm38)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,651,267 (GRCm38)		probably benign	Het
Bmyc	T	C	2: 25,707,334 (GRCm38)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,604,708 (GRCm38)	R782C	probably damaging	Het
Casc3	C	T	11: 98,822,818 (GRCm38)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,719,450 (GRCm38)	M336I	probably benign	Het
Cibar1	T	A	4: 12,155,745 (GRCm38)		probably null	Het
Cnnm2	A	G	19: 46,763,123 (GRCm38)	T451A	probably damaging	Het
Eed	T	C	7: 89,980,468 (GRCm38)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,363,186 (GRCm38)	M180K	probably benign	Het
Esr1	T	C	10: 4,997,905 (GRCm38)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,628,744 (GRCm38)	I207V	possibly damaging	Het
Fancg	G	A	4: 43,007,039 (GRCm38)	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,385,723 (GRCm38)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,955,761 (GRCm38)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,986,282 (GRCm38)	N4120Y	probably damaging	Het
Gm4884	C	T	7: 41,043,831 (GRCm38)	S408L	probably benign	Het
Gm9476	T	C	10: 100,306,612 (GRCm38)		noncoding transcript	Het
Gria1	T	C	11: 57,237,010 (GRCm38)		probably null	Het
H6pd	T	A	4: 149,982,514 (GRCm38)	I472F	possibly damaging	Het
Hydin	A	T	8: 110,410,460 (GRCm38)	M632L	probably benign	Het
Hyou1	C	T	9: 44,388,870 (GRCm38)	P819S	probably damaging	Het
Il6st	A	G	13: 112,481,541 (GRCm38)	E163G	probably damaging	Het
Kcnk1	T	C	8: 125,995,539 (GRCm38)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,522,913 (GRCm38)		probably null	Het
Klk1b22	A	G	7: 44,115,975 (GRCm38)	N117S	possibly damaging	Het
Klrh1	T	C	6: 129,775,833 (GRCm38)	D3G	probably benign	Het
Lpp	C	A	16: 24,681,841 (GRCm38)	C134*	probably null	Het
Lrrc37a	G	A	11: 103,457,017 (GRCm38)	R2951*	probably null	Het
Luzp2	T	A	7: 55,249,490 (GRCm38)	D285E	possibly damaging	Het
Mesp2	T	A	7: 79,812,541 (GRCm38)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,823,428 (GRCm38)	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,567,968 (GRCm38)	T253A	probably benign	Het
Nup214	C	T	2: 32,034,466 (GRCm38)	S1669F	probably damaging	Het
Or1r1	A	T	11: 73,984,521 (GRCm38)	L29H	probably damaging	Het
Padi6	T	C	4: 140,735,836 (GRCm38)	Y146C	probably damaging	Het
Pank4	C	T	4: 154,974,651 (GRCm38)	R414W	probably damaging	Het
Pclo	T	G	5: 14,521,282 (GRCm38)	I227S	probably benign	Het
Plppr4	A	G	3: 117,328,266 (GRCm38)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,448,586 (GRCm38)	R25C	probably damaging	Het
Rfwd3	C	T	8: 111,288,242 (GRCm38)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,471,196 (GRCm38)	T192A	probably benign	Het
Rtbdn	A	G	8: 84,955,066 (GRCm38)	E131G	probably benign	Het
Ryr2	A	G	13: 11,794,563 (GRCm38)	V792A	probably benign	Het
Sacs	G	T	14: 61,213,679 (GRCm38)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,298,099 (GRCm38)	S123G	probably benign	Het
Septin9	A	G	11: 117,290,595 (GRCm38)	R74G	probably damaging	Het
Sipa1l2	T	A	8: 125,491,617 (GRCm38)	Q327L	probably damaging	Het
Skor1	T	C	9: 63,146,223 (GRCm38)	T127A	probably damaging	Het
Sphk2	A	G	7: 45,713,496 (GRCm38)	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,244 (GRCm38)	D101E	probably damaging	Het
Tmem43	T	A	6: 91,478,735 (GRCm38)	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814 (GRCm38)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,653,140 (GRCm38)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,216,484 (GRCm38)	S191R	probably benign	Het
Ttll1	C	T	15: 83,496,277 (GRCm38)	V296M	probably damaging	Het
Upp2	A	C	2: 58,774,165 (GRCm38)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,491,219 (GRCm38)	C780R	probably damaging	Het
Wars1	C	A	12: 108,875,709 (GRCm38)	E171*	probably null	Het
Zeb2	A	T	2: 44,997,000 (GRCm38)	S637T	probably damaging	Het
Zfp27	T	A	7: 29,896,124 (GRCm38)	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,812,120 (GRCm38)	L442Q	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
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
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'- TGGAGATTCAATCGTTTCCCAGCAC -3'
(R):5'- TTTGTCATTCCTACGGCGGCAC -3'

Sequencing Primer
(F):5'- ATCGTTTCCCAGCACTGAGTAAG -3'
(R):5'- tgtttgtttgtttgtttgtttgtttg -3'

Posted On

2014-04-13