Mutagenetix > Incidental Mutation

Incidental Mutation 'R4638:Lyst'

350804

Institutional Source

Beutler Lab

Gene Symbol

Lyst

Ensembl Gene

ENSMUSG00000019726

Gene Name

lysosomal trafficking regulator

Synonyms

D13Sfk13

MMRRC Submission

041900-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.414) question?

Stock #

R4638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13764982-13953388 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to C at 13871379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110559]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000110559

SMART Domains

Protein: ENSMUSP00000106188
Gene: ENSMUSG00000019726

Domain	Start	End	E-Value	Type
low complexity region	26	36	N/A	INTRINSIC
low complexity region	72	82	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC
low complexity region	1333	1344	N/A	INTRINSIC
low complexity region	2295	2307	N/A	INTRINSIC
low complexity region	2427	2445	N/A	INTRINSIC
low complexity region	2534	2546	N/A	INTRINSIC
Pfam:PH_BEACH	3006	3101	5.8e-25	PFAM
Beach	3118	3408	1.25e-193	SMART
Blast:Beach	3441	3478	9e-13	BLAST
WD40	3539	3579	5.75e-1	SMART
WD40	3591	3630	2.89e-5	SMART
WD40	3633	3676	1.38e0	SMART
WD40	3724	3765	1.27e-1	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

91% (40/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mice have a phenotype similar to human Chediak-Higashi syndrome patients, exhibiting lysosomal dysfunction with resultant protein storage; diluted coat color; abnormal melanogenesis; immune cell dysfunction resulting in increased susceptibility to bacterial, viral, and parasitic infections and decreased cytotoxic activity against tumor cells. [provided by MGI curators]

Allele List at MGI

All alleles(52) : Targeted(3) Gene trapped(34) Spontaneous(8) Chemically induced(6) Radiation induced(1)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,369 (GRCm39)	D155G	probably damaging	Het
Ano4	C	T	10: 88,790,559 (GRCm39)	A847T	probably damaging	Het
B4galt7	T	C	13: 55,747,959 (GRCm39)		probably benign	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Cebpa	A	G	7: 34,819,687 (GRCm39)	N282D	probably damaging	Het
Cngb1	G	A	8: 95,992,647 (GRCm39)	T196M	probably damaging	Het
Cobll1	T	C	2: 64,929,581 (GRCm39)	M619V	probably benign	Het
Coro7	A	T	16: 4,450,151 (GRCm39)	I566N	probably damaging	Het
Dpyd	A	T	3: 119,059,726 (GRCm39)	S808C	probably benign	Het
Fbn2	A	G	18: 58,143,376 (GRCm39)	V2893A	probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Krba1	T	A	6: 48,386,685 (GRCm39)	L441*	probably null	Het
Lama5	T	C	2: 179,832,206 (GRCm39)	T1712A	possibly damaging	Het
Lnpep	G	A	17: 17,795,569 (GRCm39)	T314I	probably damaging	Het
Naa16	C	A	14: 79,577,473 (GRCm39)		probably null	Het
Nek7	A	T	1: 138,472,038 (GRCm39)	F34Y	probably benign	Het
Or12e7	T	C	2: 87,288,327 (GRCm39)	S273P	possibly damaging	Het
Or2ag17	A	T	7: 106,390,205 (GRCm39)	M1K	probably null	Het
Park7	G	A	4: 150,991,556 (GRCm39)	Q45*	probably null	Het
Pclo	C	A	5: 14,730,447 (GRCm39)	S2983*	probably null	Het
Pth1r	A	G	9: 110,556,141 (GRCm39)	L244P	possibly damaging	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Slc11a1	G	A	1: 74,414,437 (GRCm39)		probably benign	Het
Slc12a8	T	G	16: 33,410,693 (GRCm39)	S200A	possibly damaging	Het
Slc7a10	A	G	7: 34,897,355 (GRCm39)	E262G	probably damaging	Het
Smg1	T	C	7: 117,795,149 (GRCm39)		probably benign	Het
Snapc4	A	G	2: 26,255,314 (GRCm39)	L1070P	probably damaging	Het
Sp2	A	G	11: 96,848,300 (GRCm39)	I435T	possibly damaging	Het
Srp72	A	G	5: 77,138,142 (GRCm39)	E309G	probably benign	Het
Sympk	G	T	7: 18,777,385 (GRCm39)	R545L	possibly damaging	Het
Tie1	C	T	4: 118,341,039 (GRCm39)	R314H	probably benign	Het
Tmem198	G	T	1: 75,456,351 (GRCm39)	G2*	probably null	Het
Tmem81	A	G	1: 132,435,943 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,652,821 (GRCm39)	V10938E	possibly damaging	Het
Zfp773	T	A	7: 7,138,335 (GRCm39)	Y100F	probably damaging	Het

Other mutations in Lyst

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Lyst	APN	13	13,823,463 (GRCm39)	missense	probably benign
IGL00474:Lyst	APN	13	13,818,121 (GRCm39)	missense	possibly damaging	0.48
IGL00484:Lyst	APN	13	13,884,188 (GRCm39)	missense	probably benign	0.02
IGL00492:Lyst	APN	13	13,852,760 (GRCm39)	missense	possibly damaging	0.54
IGL00807:Lyst	APN	13	13,825,008 (GRCm39)	missense	possibly damaging	0.91
IGL00949:Lyst	APN	13	13,810,070 (GRCm39)	missense	possibly damaging	0.87
IGL00952:Lyst	APN	13	13,852,692 (GRCm39)	missense	probably benign	0.05
IGL01305:Lyst	APN	13	13,852,641 (GRCm39)	missense	probably benign	0.01
IGL01317:Lyst	APN	13	13,845,455 (GRCm39)	missense	probably benign
IGL01419:Lyst	APN	13	13,810,423 (GRCm39)	missense	probably benign	0.00
IGL01445:Lyst	APN	13	13,826,299 (GRCm39)	missense	probably benign	0.00
IGL01690:Lyst	APN	13	13,917,831 (GRCm39)	missense	probably damaging	1.00
IGL01791:Lyst	APN	13	13,809,887 (GRCm39)	missense	probably damaging	1.00
IGL01809:Lyst	APN	13	13,812,388 (GRCm39)	missense	probably damaging	1.00
IGL01896:Lyst	APN	13	13,810,162 (GRCm39)	missense	probably benign	0.04
IGL01938:Lyst	APN	13	13,812,009 (GRCm39)	missense	possibly damaging	0.93
IGL01986:Lyst	APN	13	13,950,212 (GRCm39)	critical splice donor site	probably null
IGL02022:Lyst	APN	13	13,838,629 (GRCm39)	nonsense	probably null
IGL02044:Lyst	APN	13	13,887,431 (GRCm39)	missense	probably damaging	1.00
IGL02157:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02185:Lyst	APN	13	13,835,678 (GRCm39)	nonsense	probably null
IGL02215:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02245:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02246:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02247:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02297:Lyst	APN	13	13,812,677 (GRCm39)	nonsense	probably null
IGL02411:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02415:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02419:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02420:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02429:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02501:Lyst	APN	13	13,886,230 (GRCm39)	missense	probably benign	0.02
IGL02522:Lyst	APN	13	13,809,290 (GRCm39)	missense	possibly damaging	0.81
IGL02535:Lyst	APN	13	13,824,927 (GRCm39)	missense	probably benign	0.00
IGL02596:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02601:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02603:Lyst	APN	13	13,835,541 (GRCm39)	missense	probably benign
IGL02608:Lyst	APN	13	13,887,339 (GRCm39)	missense	probably damaging	0.98
IGL02622:Lyst	APN	13	13,855,975 (GRCm39)	missense	probably damaging	1.00
IGL02690:Lyst	APN	13	13,815,710 (GRCm39)	missense	possibly damaging	0.58
IGL02715:Lyst	APN	13	13,848,905 (GRCm39)	splice site	probably null
IGL02725:Lyst	APN	13	13,935,412 (GRCm39)	missense	probably damaging	1.00
IGL02729:Lyst	APN	13	13,921,194 (GRCm39)	missense	possibly damaging	0.95
IGL02729:Lyst	APN	13	13,848,924 (GRCm39)	missense	possibly damaging	0.81
IGL02820:Lyst	APN	13	13,812,643 (GRCm39)	missense	probably benign	0.03
IGL02945:Lyst	APN	13	13,935,783 (GRCm39)	missense	possibly damaging	0.48
IGL02981:Lyst	APN	13	13,809,496 (GRCm39)	missense	probably damaging	0.99
IGL03087:Lyst	APN	13	13,809,641 (GRCm39)	missense	probably damaging	1.00
IGL03149:Lyst	APN	13	13,856,029 (GRCm39)	missense	probably benign	0.14
IGL03158:Lyst	APN	13	13,826,337 (GRCm39)	critical splice donor site	probably null
IGL03226:Lyst	APN	13	13,884,144 (GRCm39)	missense	probably benign	0.01
IGL03242:Lyst	APN	13	13,831,466 (GRCm39)	nonsense	probably null
IGL03385:Lyst	APN	13	13,831,565 (GRCm39)	nonsense	probably null
50-cal	UTSW	13	13,882,797 (GRCm39)	critical splice donor site	probably null
charcoal	UTSW	13	13,871,346 (GRCm39)	nonsense	probably null
charlotte_gray	UTSW	13	13,602,026 (GRCm38)	intron	probably benign
charzard	UTSW	13	13,821,668 (GRCm39)	nonsense	probably null
grey_wolf	UTSW	13	0 ()	unclassified
lightspeed	UTSW	13	13,915,121 (GRCm39)	missense	possibly damaging	0.91
pardon	UTSW	13	13,852,537 (GRCm39)	missense	probably benign	0.00
robin	UTSW	13	13,823,387 (GRCm39)	nonsense	probably null
sooty	UTSW	13	0 ()	unclassified
souris	UTSW	13	13,857,808 (GRCm39)	unclassified	probably benign
Swallow	UTSW	13	13,932,007 (GRCm39)	missense	probably benign	0.00
vulpix	UTSW	13	13,871,379 (GRCm39)	splice site	probably null
ANU22:Lyst	UTSW	13	13,852,641 (GRCm39)	missense	probably benign	0.01
IGL02835:Lyst	UTSW	13	13,835,685 (GRCm39)	missense	possibly damaging	0.82
P0031:Lyst	UTSW	13	13,838,616 (GRCm39)	missense	probably damaging	1.00
R0012:Lyst	UTSW	13	13,862,279 (GRCm39)	missense	probably benign	0.10
R0012:Lyst	UTSW	13	13,862,279 (GRCm39)	missense	probably benign	0.10
R0031:Lyst	UTSW	13	13,882,741 (GRCm39)	missense	probably benign	0.14
R0115:Lyst	UTSW	13	13,852,537 (GRCm39)	missense	probably benign	0.00
R0212:Lyst	UTSW	13	13,810,570 (GRCm39)	missense	possibly damaging	0.93
R0386:Lyst	UTSW	13	13,882,799 (GRCm39)	splice site	probably benign
R0393:Lyst	UTSW	13	13,821,664 (GRCm39)	missense	probably benign	0.01
R0415:Lyst	UTSW	13	13,886,195 (GRCm39)	splice site	probably benign
R0446:Lyst	UTSW	13	13,812,633 (GRCm39)	missense	probably benign	0.00
R0481:Lyst	UTSW	13	13,852,537 (GRCm39)	missense	probably benign	0.00
R0499:Lyst	UTSW	13	13,791,298 (GRCm39)	missense	probably damaging	1.00
R0506:Lyst	UTSW	13	13,812,600 (GRCm39)	missense	probably benign
R0530:Lyst	UTSW	13	13,931,891 (GRCm39)	splice site	probably benign
R0541:Lyst	UTSW	13	13,855,878 (GRCm39)	missense	probably benign	0.00
R0570:Lyst	UTSW	13	13,883,971 (GRCm39)	missense	probably benign	0.26
R0680:Lyst	UTSW	13	13,824,926 (GRCm39)	missense	probably benign	0.01
R0842:Lyst	UTSW	13	13,852,826 (GRCm39)	nonsense	probably null
R0848:Lyst	UTSW	13	13,809,515 (GRCm39)	missense	probably benign	0.00
R1014:Lyst	UTSW	13	13,808,645 (GRCm39)	missense	possibly damaging	0.49
R1205:Lyst	UTSW	13	13,854,787 (GRCm39)	missense	probably benign
R1251:Lyst	UTSW	13	13,809,068 (GRCm39)	missense	probably benign	0.00
R1304:Lyst	UTSW	13	13,926,569 (GRCm39)	nonsense	probably null
R1398:Lyst	UTSW	13	13,915,121 (GRCm39)	missense	possibly damaging	0.91
R1445:Lyst	UTSW	13	13,814,639 (GRCm39)	missense	possibly damaging	0.94
R1475:Lyst	UTSW	13	13,882,797 (GRCm39)	critical splice donor site	probably null
R1479:Lyst	UTSW	13	13,809,067 (GRCm39)	missense	probably benign	0.00
R1484:Lyst	UTSW	13	13,852,775 (GRCm39)	missense	probably benign	0.01
R1498:Lyst	UTSW	13	13,824,960 (GRCm39)	missense	possibly damaging	0.49
R1540:Lyst	UTSW	13	13,809,686 (GRCm39)	missense	possibly damaging	0.81
R1611:Lyst	UTSW	13	13,809,482 (GRCm39)	missense	probably damaging	0.97
R1653:Lyst	UTSW	13	13,809,811 (GRCm39)	missense	probably damaging	1.00
R1669:Lyst	UTSW	13	13,818,672 (GRCm39)	missense	possibly damaging	0.90
R1686:Lyst	UTSW	13	13,809,290 (GRCm39)	missense	possibly damaging	0.81
R1694:Lyst	UTSW	13	13,835,746 (GRCm39)	missense	probably damaging	0.98
R1747:Lyst	UTSW	13	13,932,007 (GRCm39)	missense	probably benign	0.00
R1793:Lyst	UTSW	13	13,821,668 (GRCm39)	nonsense	probably null
R1871:Lyst	UTSW	13	13,826,297 (GRCm39)	missense	probably benign	0.00
R1905:Lyst	UTSW	13	13,808,719 (GRCm39)	missense	probably benign
R1958:Lyst	UTSW	13	13,791,203 (GRCm39)	missense	probably damaging	1.00
R1969:Lyst	UTSW	13	13,904,929 (GRCm39)	missense	probably damaging	0.99
R2040:Lyst	UTSW	13	13,815,807 (GRCm39)	missense	probably benign	0.00
R2109:Lyst	UTSW	13	13,887,405 (GRCm39)	missense	possibly damaging	0.46
R2116:Lyst	UTSW	13	13,810,286 (GRCm39)	missense	probably damaging	0.99
R2121:Lyst	UTSW	13	13,835,556 (GRCm39)	missense	probably damaging	1.00
R2127:Lyst	UTSW	13	13,809,847 (GRCm39)	missense	probably damaging	1.00
R2187:Lyst	UTSW	13	13,883,926 (GRCm39)	missense	possibly damaging	0.61
R2238:Lyst	UTSW	13	13,917,848 (GRCm39)	missense	probably benign	0.41
R2258:Lyst	UTSW	13	13,812,243 (GRCm39)	missense	probably benign	0.00
R2292:Lyst	UTSW	13	13,915,080 (GRCm39)	missense	probably damaging	1.00
R2368:Lyst	UTSW	13	13,871,248 (GRCm39)	missense	probably damaging	0.96
R2908:Lyst	UTSW	13	13,844,458 (GRCm39)	missense	probably benign	0.03
R3001:Lyst	UTSW	13	13,871,290 (GRCm39)	missense	probably benign
R3002:Lyst	UTSW	13	13,871,290 (GRCm39)	missense	probably benign
R3024:Lyst	UTSW	13	13,833,272 (GRCm39)	missense	probably benign
R3113:Lyst	UTSW	13	13,844,512 (GRCm39)	missense	probably benign	0.12
R3406:Lyst	UTSW	13	13,809,815 (GRCm39)	missense	possibly damaging	0.56
R3972:Lyst	UTSW	13	13,881,210 (GRCm39)	missense	possibly damaging	0.67
R3978:Lyst	UTSW	13	13,808,753 (GRCm39)	missense	possibly damaging	0.82
R4032:Lyst	UTSW	13	13,791,250 (GRCm39)	missense	probably damaging	1.00
R4192:Lyst	UTSW	13	13,915,098 (GRCm39)	missense	probably damaging	1.00
R4206:Lyst	UTSW	13	13,810,574 (GRCm39)	missense	probably benign	0.03
R4298:Lyst	UTSW	13	13,809,472 (GRCm39)	missense	probably damaging	1.00
R4344:Lyst	UTSW	13	13,873,051 (GRCm39)	missense	probably benign	0.06
R4441:Lyst	UTSW	13	13,809,968 (GRCm39)	missense	probably damaging	1.00
R4445:Lyst	UTSW	13	13,884,149 (GRCm39)	missense	probably benign	0.42
R4477:Lyst	UTSW	13	13,809,968 (GRCm39)	missense	probably damaging	1.00
R4493:Lyst	UTSW	13	13,809,968 (GRCm39)	missense	probably damaging	1.00
R4494:Lyst	UTSW	13	13,809,968 (GRCm39)	missense	probably damaging	1.00
R4495:Lyst	UTSW	13	13,809,968 (GRCm39)	missense	probably damaging	1.00
R4622:Lyst	UTSW	13	13,848,983 (GRCm39)	missense	probably benign	0.01
R4658:Lyst	UTSW	13	13,809,968 (GRCm39)	missense	probably damaging	1.00
R4675:Lyst	UTSW	13	13,809,968 (GRCm39)	missense	probably damaging	1.00
R4719:Lyst	UTSW	13	13,824,935 (GRCm39)	missense	probably benign
R4729:Lyst	UTSW	13	13,812,486 (GRCm39)	missense	probably damaging	1.00
R4774:Lyst	UTSW	13	13,915,182 (GRCm39)	missense	probably damaging	1.00
R4811:Lyst	UTSW	13	13,951,685 (GRCm39)	missense	probably benign	0.33
R4877:Lyst	UTSW	13	13,857,734 (GRCm39)	missense	probably damaging	1.00
R4920:Lyst	UTSW	13	13,821,645 (GRCm39)	missense	possibly damaging	0.79
R4933:Lyst	UTSW	13	13,933,963 (GRCm39)	missense	probably benign	0.12
R4933:Lyst	UTSW	13	13,812,349 (GRCm39)	missense	probably damaging	0.98
R4958:Lyst	UTSW	13	13,810,048 (GRCm39)	missense	probably benign	0.00
R4982:Lyst	UTSW	13	13,900,539 (GRCm39)	missense	probably damaging	1.00
R4992:Lyst	UTSW	13	13,835,748 (GRCm39)	missense	probably damaging	1.00
R5024:Lyst	UTSW	13	13,808,989 (GRCm39)	missense	probably benign
R5049:Lyst	UTSW	13	13,810,649 (GRCm39)	missense	probably damaging	1.00
R5079:Lyst	UTSW	13	13,931,938 (GRCm39)	missense	probably benign	0.08
R5254:Lyst	UTSW	13	13,857,655 (GRCm39)	missense	probably benign	0.00
R5266:Lyst	UTSW	13	13,835,555 (GRCm39)	missense	probably damaging	1.00
R5279:Lyst	UTSW	13	13,823,387 (GRCm39)	nonsense	probably null
R5285:Lyst	UTSW	13	13,809,011 (GRCm39)	missense	probably benign	0.01
R5364:Lyst	UTSW	13	13,831,439 (GRCm39)	missense	probably benign	0.35
R5435:Lyst	UTSW	13	13,951,649 (GRCm39)	missense	possibly damaging	0.64
R5516:Lyst	UTSW	13	13,818,707 (GRCm39)	missense	probably benign	0.10
R5524:Lyst	UTSW	13	13,921,364 (GRCm39)	missense	probably benign	0.03
R5591:Lyst	UTSW	13	13,917,918 (GRCm39)	missense	probably damaging	0.99
R5592:Lyst	UTSW	13	13,917,918 (GRCm39)	missense	probably damaging	0.99
R5593:Lyst	UTSW	13	13,917,918 (GRCm39)	missense	probably damaging	0.99
R5594:Lyst	UTSW	13	13,917,918 (GRCm39)	missense	probably damaging	0.99
R5594:Lyst	UTSW	13	13,933,982 (GRCm39)	missense	probably benign	0.00
R5644:Lyst	UTSW	13	13,812,081 (GRCm39)	missense	possibly damaging	0.58
R5659:Lyst	UTSW	13	13,809,212 (GRCm39)	missense	possibly damaging	0.58
R5741:Lyst	UTSW	13	13,808,615 (GRCm39)	missense	probably benign	0.44
R5908:Lyst	UTSW	13	13,871,346 (GRCm39)	nonsense	probably null
R5969:Lyst	UTSW	13	13,862,398 (GRCm39)	splice site	probably null
R6128:Lyst	UTSW	13	13,933,964 (GRCm39)	missense	possibly damaging	0.67
R6271:Lyst	UTSW	13	13,833,339 (GRCm39)	missense	probably benign	0.30
R6315:Lyst	UTSW	13	13,818,089 (GRCm39)	missense	probably benign
R6318:Lyst	UTSW	13	13,917,896 (GRCm39)	missense	possibly damaging	0.88
R6555:Lyst	UTSW	13	13,823,510 (GRCm39)	missense	probably benign	0.01
R6663:Lyst	UTSW	13	13,838,701 (GRCm39)	splice site	probably null
R6701:Lyst	UTSW	13	13,856,070 (GRCm39)	missense	probably benign	0.06
R6711:Lyst	UTSW	13	13,809,820 (GRCm39)	missense	possibly damaging	0.80
R6909:Lyst	UTSW	13	13,917,960 (GRCm39)	missense	probably damaging	1.00
R6915:Lyst	UTSW	13	13,900,629 (GRCm39)	missense	probably benign	0.01
R6929:Lyst	UTSW	13	13,917,909 (GRCm39)	missense	probably damaging	1.00
R6960:Lyst	UTSW	13	13,808,663 (GRCm39)	missense	probably benign	0.12
R7018:Lyst	UTSW	13	13,918,044 (GRCm39)	critical splice donor site	probably null
R7037:Lyst	UTSW	13	13,791,251 (GRCm39)	missense	probably damaging	1.00
R7045:Lyst	UTSW	13	13,812,293 (GRCm39)	missense	probably damaging	1.00
R7045:Lyst	UTSW	13	13,809,485 (GRCm39)	missense	probably benign	0.34
R7070:Lyst	UTSW	13	13,932,029 (GRCm39)	missense	probably benign	0.23
R7188:Lyst	UTSW	13	13,926,675 (GRCm39)	missense	possibly damaging	0.66
R7201:Lyst	UTSW	13	13,883,885 (GRCm39)	nonsense	probably null
R7210:Lyst	UTSW	13	13,831,568 (GRCm39)	missense	probably damaging	1.00
R7229:Lyst	UTSW	13	13,818,094 (GRCm39)	missense	probably benign	0.00
R7293:Lyst	UTSW	13	13,854,822 (GRCm39)	missense	probably benign	0.01
R7318:Lyst	UTSW	13	13,932,028 (GRCm39)	missense	probably benign	0.13
R7344:Lyst	UTSW	13	13,881,140 (GRCm39)	missense	probably benign
R7426:Lyst	UTSW	13	13,812,109 (GRCm39)	missense	probably benign
R7522:Lyst	UTSW	13	13,821,668 (GRCm39)	nonsense	probably null
R7583:Lyst	UTSW	13	13,810,472 (GRCm39)	missense	probably damaging	1.00
R7606:Lyst	UTSW	13	13,812,060 (GRCm39)	missense	probably damaging	1.00
R7636:Lyst	UTSW	13	13,791,332 (GRCm39)	critical splice donor site	probably null
R7658:Lyst	UTSW	13	13,905,061 (GRCm39)	missense	possibly damaging	0.63
R7685:Lyst	UTSW	13	13,844,450 (GRCm39)	missense	probably benign	0.00
R7689:Lyst	UTSW	13	13,857,808 (GRCm39)	critical splice donor site	probably null
R7765:Lyst	UTSW	13	13,884,117 (GRCm39)	missense	possibly damaging	0.75
R7779:Lyst	UTSW	13	13,809,128 (GRCm39)	missense	probably damaging	1.00
R7871:Lyst	UTSW	13	13,810,637 (GRCm39)	nonsense	probably null
R7872:Lyst	UTSW	13	13,810,450 (GRCm39)	missense	probably benign	0.14
R7884:Lyst	UTSW	13	13,882,268 (GRCm39)	missense	probably benign	0.09
R7890:Lyst	UTSW	13	13,915,154 (GRCm39)	missense	probably damaging	0.99
R7916:Lyst	UTSW	13	13,821,657 (GRCm39)	missense	possibly damaging	0.64
R7948:Lyst	UTSW	13	13,921,174 (GRCm39)	missense	possibly damaging	0.59
R7956:Lyst	UTSW	13	13,815,788 (GRCm39)	missense	possibly damaging	0.80
R8048:Lyst	UTSW	13	13,862,230 (GRCm39)	missense	probably benign	0.12
R8085:Lyst	UTSW	13	13,808,894 (GRCm39)	missense	probably damaging	0.98
R8165:Lyst	UTSW	13	13,872,945 (GRCm39)	missense	probably damaging	0.99
R8235:Lyst	UTSW	13	13,935,323 (GRCm39)	missense	possibly damaging	0.69
R8237:Lyst	UTSW	13	13,826,317 (GRCm39)	missense	probably benign	0.00
R8275:Lyst	UTSW	13	13,950,667 (GRCm39)	missense	probably benign	0.02
R8300:Lyst	UTSW	13	13,838,643 (GRCm39)	missense	possibly damaging	0.79
R8350:Lyst	UTSW	13	13,824,973 (GRCm39)	nonsense	probably null
R8526:Lyst	UTSW	13	13,935,391 (GRCm39)	missense	probably damaging	0.99
R8551:Lyst	UTSW	13	13,808,645 (GRCm39)	missense	possibly damaging	0.77
R8723:Lyst	UTSW	13	13,887,342 (GRCm39)	missense	possibly damaging	0.89
R8772:Lyst	UTSW	13	13,812,077 (GRCm39)	nonsense	probably null
R8778:Lyst	UTSW	13	13,903,152 (GRCm39)	missense	possibly damaging	0.89
R8778:Lyst	UTSW	13	13,810,361 (GRCm39)	missense	possibly damaging	0.89
R8801:Lyst	UTSW	13	13,835,595 (GRCm39)	missense	probably benign	0.10
R8837:Lyst	UTSW	13	13,852,548 (GRCm39)	missense	probably benign
R8874:Lyst	UTSW	13	13,812,147 (GRCm39)	missense	probably benign
R8878:Lyst	UTSW	13	13,815,661 (GRCm39)	missense	probably benign	0.00
R8891:Lyst	UTSW	13	13,887,435 (GRCm39)	missense	possibly damaging	0.67
R9077:Lyst	UTSW	13	13,857,693 (GRCm39)	missense	probably benign	0.02
R9127:Lyst	UTSW	13	13,808,827 (GRCm39)	missense	probably damaging	1.00
R9143:Lyst	UTSW	13	13,835,750 (GRCm39)	missense	probably damaging	0.98
R9216:Lyst	UTSW	13	13,823,188 (GRCm39)	missense	probably benign
R9217:Lyst	UTSW	13	13,871,245 (GRCm39)	missense	probably benign	0.01
R9291:Lyst	UTSW	13	13,883,938 (GRCm39)	missense	probably benign	0.01
R9302:Lyst	UTSW	13	13,904,947 (GRCm39)	missense	possibly damaging	0.46
R9370:Lyst	UTSW	13	13,935,333 (GRCm39)	missense	probably damaging	1.00
R9402:Lyst	UTSW	13	13,812,463 (GRCm39)	missense	probably benign
R9457:Lyst	UTSW	13	13,862,330 (GRCm39)	missense	possibly damaging	0.83
R9481:Lyst	UTSW	13	13,857,653 (GRCm39)	missense	possibly damaging	0.68
R9563:Lyst	UTSW	13	13,812,408 (GRCm39)	missense	probably benign	0.36
R9623:Lyst	UTSW	13	13,852,587 (GRCm39)	missense	probably benign
R9661:Lyst	UTSW	13	13,808,779 (GRCm39)	missense	probably benign	0.01
R9682:Lyst	UTSW	13	13,831,526 (GRCm39)	missense	probably benign	0.21
R9743:Lyst	UTSW	13	13,809,323 (GRCm39)	missense	possibly damaging	0.67
R9801:Lyst	UTSW	13	13,809,290 (GRCm39)	missense	probably damaging	0.97
RF001:Lyst	UTSW	13	13,810,426 (GRCm39)	missense	probably benign
RF002:Lyst	UTSW	13	13,808,948 (GRCm39)	missense	probably benign	0.05
X0024:Lyst	UTSW	13	13,809,033 (GRCm39)	missense	probably benign	0.00
X0026:Lyst	UTSW	13	13,926,555 (GRCm39)	missense	probably damaging	0.99
Z1088:Lyst	UTSW	13	13,918,018 (GRCm39)	missense	probably benign	0.09
Z1176:Lyst	UTSW	13	13,951,664 (GRCm39)	missense	probably benign	0.27
Z1176:Lyst	UTSW	13	13,814,692 (GRCm39)	missense	probably damaging	1.00
Z1177:Lyst	UTSW	13	13,854,719 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGTCAGATGTCCTCAGTGTTAC -3'
(R):5'- TTTTGTAACAGGTTAGCCAAGC -3'

Sequencing Primer
(F):5'- GTCAGATGTCCTCAGTGTTACTTATC -3'
(R):5'- TGAGTTCAAAGTCAACCTAGGC -3'

Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R46380036_PCR_F: 5’- TGTCAGATGTCCTCAGTGTTAC-3’

R46380036_PCR_R: 5’- TTTTGTAACAGGTTAGCCAAGC-3’

Sequencing Primers

R46380036_SEQ_F: 5’- GTCAGATGTCCTCAGTGTTACTTATC-3’ 

R46380036_SEQ_R: 5’- TGAGTTCAAAGTCAACCTAGGC-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 615 nucleotides is amplified (NCBI RefSeq: NC_000079, chromosome 13:13696486-13697100):

tgtcagatgt cctcagtgtt acttatccca cctcttgagt attttcacca acatcattac

catacatagt agatacctat caatgagtta acttattttt attaaattct tttttaattc

aaagagttga attcagatat tattgacatt ttgagaactc cagaaaatac atcccaaagc

aagacctcag tttctcagac tgaaatttct gaagaagaca tgcatcatga gcaaccttct

gtatataatc catttcaaaa agaaatgtta acctatctgt tggatggctt caaagtgtgt

attgtaagta aattaatgac ttgaaaatgt gcatttacac aaaaggagta gagatctata

tatgtgaact ctgggtttct aaatttatat ttctttgtgc tttgtacctg aaacaattta

aattcgtttt tctgttgggg taaggtcatt gttttgtttt gaagtaagga ttcactatgt

agcctaggtt gactttgaac tcatatttct catttctcag tctcatgcta attgacattg

caggtgtgtg ccattatgcc taacggggtt ttaataatag agtgatatat tttgcttggc

taacctgtta caaaa

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = T>C).

Posted On

2015-10-08