Mutagenetix > Incidental Mutation

Incidental Mutation 'R0926:Ly6e'

83222

Institutional Source

Beutler Lab

Gene Symbol

Ly6e

Ensembl Gene

ENSMUSG00000022587

Gene Name

lymphocyte antigen 6 family member E

Synonyms

TSA-1, RIG-E, 9804, Tsa1, Sca-2, Ly67

MMRRC Submission

039073-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0926 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74826900-74831752 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74830219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 73 (S73A)

Ref Sequence

ENSEMBL: ENSMUSP00000140829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051698] [ENSMUST00000169343] [ENSMUST00000185861] [ENSMUST00000185863] [ENSMUST00000187284] [ENSMUST00000187606] [ENSMUST00000188042] [ENSMUST00000191436] [ENSMUST00000188866] [ENSMUST00000190810] [ENSMUST00000191145] [ENSMUST00000191127] [ENSMUST00000189186]

AlphaFold

Q64253

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051698
AA Change: S58A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056703
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	8.6e-28	SMART
low complexity region	119	135	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169343
AA Change: S58A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132081
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	8.6e-28	SMART
low complexity region	119	135	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185861
AA Change: S58A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141145
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	8.6e-28	SMART
low complexity region	119	135	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185863
AA Change: S74A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140060
Gene: ENSMUSG00000022587
AA Change: S74A

Domain	Start	End	E-Value	Type
signal peptide	1	42	N/A	INTRINSIC
LU	43	111	5.7e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186927

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187284
AA Change: S58A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140553
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	8.6e-28	SMART
low complexity region	119	135	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187606
AA Change: S58A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139471
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	8.6e-28	SMART
low complexity region	119	135	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188042
AA Change: S58A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141059
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	8.6e-28	SMART
low complexity region	119	135	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191436
AA Change: S58A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139549
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	8.6e-28	SMART
low complexity region	119	135	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188866
AA Change: S58A

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140145
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	8.6e-28	SMART
low complexity region	119	135	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190810
AA Change: S58A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139482
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	4.1e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191145
AA Change: S73A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587
AA Change: S73A

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
LU	42	117	2.4e-15	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191127
AA Change: S58A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139966
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LU	27	118	4.1e-30	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000189186
AA Change: S58A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139477
Gene: ENSMUSG00000022587
AA Change: S58A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UPAR_LY6	29	64	3e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188686

Meta Mutation Damage Score

0.5720

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.2%

Validation Efficiency

98% (61/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos as a result of heart defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,164,832 (GRCm39)	D514G	probably damaging	Het
Acbd7	A	T	2: 3,341,478 (GRCm39)	I41F	possibly damaging	Het
Actr8	G	T	14: 29,709,181 (GRCm39)	V262L	probably benign	Het
Anp32e	A	G	3: 95,844,454 (GRCm39)	D108G	probably damaging	Het
Banp	G	A	8: 122,747,294 (GRCm39)	G448S	probably benign	Het
Camsap3	G	A	8: 3,637,960 (GRCm39)		probably null	Het
Cd22	C	A	7: 30,568,934 (GRCm39)		probably null	Het
Cfap58	A	T	19: 47,951,001 (GRCm39)	Q454L	probably damaging	Het
Cntn4	C	T	6: 106,632,542 (GRCm39)	T522I	probably benign	Het
Col11a1	G	A	3: 113,883,829 (GRCm39)	D233N	unknown	Het
Csmd1	G	T	8: 16,083,590 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,840,429 (GRCm39)	Y946F	probably damaging	Het
D5Ertd579e	G	T	5: 36,830,210 (GRCm39)	P38Q	probably damaging	Het
Dnal4	T	C	15: 79,646,226 (GRCm39)	T93A	probably benign	Het
Dsp	A	T	13: 38,367,194 (GRCm39)	D614V	probably damaging	Het
Fcgr1	A	T	3: 96,199,682 (GRCm39)	I75N	possibly damaging	Het
Fgd6	T	A	10: 93,970,909 (GRCm39)	Y1229N	probably benign	Het
Fhip2a	G	A	19: 57,369,522 (GRCm39)	A383T	probably damaging	Het
Frmpd1	T	G	4: 45,268,497 (GRCm39)	L214R	probably damaging	Het
Gapvd1	A	T	2: 34,602,337 (GRCm39)	D603E	probably damaging	Het
H2-M9	A	G	17: 36,952,665 (GRCm39)	V127A	probably damaging	Het
Herc2	T	A	7: 55,782,296 (GRCm39)	S1328T	possibly damaging	Het
Ica1l	T	C	1: 60,045,456 (GRCm39)	N269S	probably benign	Het
Il18r1	T	C	1: 40,526,188 (GRCm39)	Y245H	probably damaging	Het
Il6ra	A	T	3: 89,794,376 (GRCm39)	V195E	probably damaging	Het
Inpp5j	A	G	11: 3,451,439 (GRCm39)		probably benign	Het
Isy1	T	C	6: 87,796,125 (GRCm39)	T271A	probably benign	Het
Klra9	T	C	6: 130,155,993 (GRCm39)	Y254C	probably damaging	Het
Mcmdc2	T	A	1: 9,990,801 (GRCm39)	L326*	probably null	Het
Muc4	G	A	16: 32,576,570 (GRCm39)		probably benign	Het
Myh3	A	G	11: 66,981,340 (GRCm39)		probably null	Het
Ndor1	G	A	2: 25,138,360 (GRCm39)	H409Y	probably benign	Het
Nwd2	A	G	5: 63,965,234 (GRCm39)	D1606G	probably damaging	Het
Or2t44	A	G	11: 58,677,935 (GRCm39)	N292D	probably damaging	Het
Or3a1d	G	A	11: 74,238,132 (GRCm39)	R93C	probably benign	Het
Or4f7	A	G	2: 111,644,892 (GRCm39)	Y60H	probably damaging	Het
Or51f1e	T	C	7: 102,747,092 (GRCm39)	L48P	probably damaging	Het
Or5b99	A	T	19: 12,976,554 (GRCm39)	D68V	probably damaging	Het
Or5h18	A	G	16: 58,848,051 (GRCm39)	I73T	possibly damaging	Het
Or5l13	A	T	2: 87,780,266 (GRCm39)	F104I	probably damaging	Het
Paox	C	A	7: 139,713,951 (GRCm39)	T237K	probably damaging	Het
Pcmtd1	T	A	1: 7,231,243 (GRCm39)	L4I	probably damaging	Het
Pfkl	T	A	10: 77,836,523 (GRCm39)	T165S	probably damaging	Het
Pik3ap1	A	G	19: 41,290,964 (GRCm39)	S523P	probably benign	Het
Pitpnm1	A	G	19: 4,162,338 (GRCm39)	D1056G	probably damaging	Het
Pitpnm2	G	A	5: 124,269,272 (GRCm39)	T450I	probably benign	Het
Pou2f3	T	C	9: 43,058,198 (GRCm39)	D37G	probably damaging	Het
Prdm5	A	G	6: 65,860,531 (GRCm39)	H221R	probably damaging	Het
Pwp1	T	A	10: 85,712,378 (GRCm39)	I72N	probably damaging	Het
Rhou	A	G	8: 124,387,715 (GRCm39)	E149G	probably damaging	Het
She	A	G	3: 89,758,901 (GRCm39)		probably benign	Het
Slc26a9	A	C	1: 131,680,954 (GRCm39)	H121P	probably benign	Het
Spag17	A	G	3: 99,979,432 (GRCm39)	D1431G	probably benign	Het
Trpm3	A	T	19: 22,965,407 (GRCm39)	D1634V	probably benign	Het
Ttn	A	G	2: 76,627,571 (GRCm39)		probably benign	Het
Zc3h14	T	A	12: 98,724,849 (GRCm39)	D170E	possibly damaging	Het
Zcrb1	T	C	15: 93,289,409 (GRCm39)	K51E	probably damaging	Het
Zfp110	C	T	7: 12,583,808 (GRCm39)	Q819*	probably null	Het
Zfp616	A	G	11: 73,976,644 (GRCm39)	N971S	probably benign	Het
Zfp827	A	T	8: 79,844,821 (GRCm39)	T664S	probably benign	Het

Other mutations in Ly6e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Ly6e	APN	15	74,830,546 (GRCm39)	missense	probably benign	0.38
R2083:Ly6e	UTSW	15	74,830,168 (GRCm39)	missense	probably damaging	1.00
R2374:Ly6e	UTSW	15	74,830,470 (GRCm39)	missense	probably damaging	1.00
R4328:Ly6e	UTSW	15	74,830,370 (GRCm39)	missense	probably damaging	0.97
R4512:Ly6e	UTSW	15	74,829,682 (GRCm39)	missense	probably damaging	1.00
R4646:Ly6e	UTSW	15	74,830,510 (GRCm39)	splice site	probably null
R7509:Ly6e	UTSW	15	74,830,135 (GRCm39)	missense	probably damaging	1.00
R7706:Ly6e	UTSW	15	74,830,183 (GRCm39)	missense	possibly damaging	0.90
R7892:Ly6e	UTSW	15	74,829,700 (GRCm39)	nonsense	probably null
R8431:Ly6e	UTSW	15	74,830,190 (GRCm39)	missense	probably benign	0.00
R9087:Ly6e	UTSW	15	74,829,649 (GRCm39)	missense	probably benign	0.01
R9401:Ly6e	UTSW	15	74,830,153 (GRCm39)	nonsense	probably null
R9795:Ly6e	UTSW	15	74,830,390 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCCAACTGACCTAGTTCCCCTG -3'
(R):5'- CGCCACACCGAGATTGAGATTGAC -3'

Sequencing Primer
(F):5'- CCAAAGTCTGAAGTCAGTTGTC -3'
(R):5'- CATTTTCACTGGGGCAGATCG -3'

Posted On

2013-11-08