Mutagenetix > Incidental Mutation

Incidental Mutation 'R9087:Ly6e'

690718

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

068906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9087 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74826900-74831752 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74829649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 14 (L14R)

Ref Sequence

ENSEMBL: ENSMUSP00000140060 (fasta)

Gene Model

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

AlphaFold

Q64253

Predicted Effect

probably benign
Transcript: ENSMUST00000051698

SMART Domains

Protein: ENSMUSP00000056703
Gene: ENSMUSG00000022587

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 benign
Transcript: ENSMUST00000169343

SMART Domains

Protein: ENSMUSP00000132081
Gene: ENSMUSG00000022587

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 benign
Transcript: ENSMUST00000185861

SMART Domains

Protein: ENSMUSP00000141145
Gene: ENSMUSG00000022587

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 benign
Transcript: ENSMUST00000185863
AA Change: L14R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140060
Gene: ENSMUSG00000022587
AA Change: L14R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187284

SMART Domains

Protein: ENSMUSP00000140553
Gene: ENSMUSG00000022587

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 benign
Transcript: ENSMUST00000187606

SMART Domains

Protein: ENSMUSP00000139471
Gene: ENSMUSG00000022587

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 benign
Transcript: ENSMUST00000188042

SMART Domains

Protein: ENSMUSP00000141059
Gene: ENSMUSG00000022587

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 benign
Transcript: ENSMUST00000188866

SMART Domains

Protein: ENSMUSP00000140145
Gene: ENSMUSG00000022587

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 benign
Transcript: ENSMUST00000189186

SMART Domains

Protein: ENSMUSP00000139477
Gene: ENSMUSG00000022587

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190810

SMART Domains

Protein: ENSMUSP00000139482
Gene: ENSMUSG00000022587

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191127

SMART Domains

Protein: ENSMUSP00000139966
Gene: ENSMUSG00000022587

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191145
AA Change: L13R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587
AA Change: L13R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191436

SMART Domains

Protein: ENSMUSP00000139549
Gene: ENSMUSG00000022587

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,169 (GRCm39)	D180G	probably damaging	Het
Abcb6	A	T	1: 75,150,211 (GRCm39)	I649K	probably damaging	Het
Ace	T	C	11: 105,872,745 (GRCm39)	F969S	probably damaging	Het
Ankrd26	A	G	6: 118,536,230 (GRCm39)		probably null	Het
Apobec1	A	T	6: 122,558,700 (GRCm39)	L9*	probably null	Het
Atp13a1	A	G	8: 70,256,457 (GRCm39)	D865G	probably damaging	Het
Barhl1	T	C	2: 28,805,231 (GRCm39)	Y154C	probably damaging	Het
Bbx	T	C	16: 50,094,998 (GRCm39)	D106G	probably damaging	Het
Cacna1a	G	A	8: 85,365,432 (GRCm39)	A2192T	probably benign	Het
Cacnb1	T	C	11: 97,893,833 (GRCm39)	N563S	possibly damaging	Het
Capn5	A	T	7: 97,775,531 (GRCm39)	I470N	probably damaging	Het
Cd300c	T	C	11: 114,850,591 (GRCm39)	T71A	probably damaging	Het
Celf4	T	A	18: 25,637,327 (GRCm39)	S223C	probably damaging	Het
Cftr	A	C	6: 18,214,180 (GRCm39)	I119L	possibly damaging	Het
Cmya5	T	C	13: 93,233,711 (GRCm39)	E459G	possibly damaging	Het
Cntn2	A	G	1: 132,453,108 (GRCm39)	Y395H	probably damaging	Het
Cntnap3	T	C	13: 64,899,532 (GRCm39)	D987G	probably damaging	Het
Col5a2	T	A	1: 45,481,818 (GRCm39)	D102V	unknown	Het
Cpeb2	T	C	5: 43,438,461 (GRCm39)	F812L		Het
Cpsf3	T	A	12: 21,358,995 (GRCm39)	L565Q	probably damaging	Het
Ctnnd1	A	C	2: 84,439,922 (GRCm39)	L796R	probably damaging	Het
Dach1	A	G	14: 98,406,267 (GRCm39)	L160P	probably benign	Het
Dennd1a	A	C	2: 37,911,366 (GRCm39)		probably null	Het
Dnah12	T	C	14: 26,546,503 (GRCm39)	I2431T	probably damaging	Het
Ep400	A	T	5: 110,815,430 (GRCm39)	Y2887*	probably null	Het
Erich1	T	C	8: 14,083,623 (GRCm39)	D149G	probably damaging	Het
Fut2	T	C	7: 45,300,493 (GRCm39)	N93S	probably damaging	Het
Gba2	C	T	4: 43,568,304 (GRCm39)	A688T	probably benign	Het
Gcm2	C	G	13: 41,263,406 (GRCm39)	E9Q		Het
Gfod1	T	C	13: 43,353,838 (GRCm39)	E379G	probably damaging	Het
Gfod2	A	G	8: 106,454,851 (GRCm39)	F10L	probably damaging	Het
Gm4871	T	G	5: 144,969,088 (GRCm39)	H75P	possibly damaging	Het
Gtpbp3	T	A	8: 71,944,999 (GRCm39)	V418E	probably benign	Het
Hif1a	T	A	12: 73,989,099 (GRCm39)	I688K	probably benign	Het
Ifi44	G	T	3: 151,451,517 (GRCm39)	S196R	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kl	A	G	5: 150,911,957 (GRCm39)	K569E	probably benign	Het
Klkb1	G	A	8: 45,728,515 (GRCm39)	Q415*	probably null	Het
L1td1	A	G	4: 98,624,699 (GRCm39)	D298G	possibly damaging	Het
L2hgdh	C	T	12: 69,749,131 (GRCm39)	R252Q	probably benign	Het
Lipc	C	G	9: 70,709,390 (GRCm39)	K452N	probably benign	Het
Lrp10	C	A	14: 54,705,621 (GRCm39)	S270R	probably damaging	Het
Mast3	T	C	8: 71,242,330 (GRCm39)	D90G	possibly damaging	Het
Mmp27	T	C	9: 7,579,858 (GRCm39)	F444S	probably damaging	Het
Mrgpra2b	A	T	7: 47,114,518 (GRCm39)	N71K	probably benign	Het
Nbea	C	A	3: 55,550,157 (GRCm39)		probably null	Het
Ndufb10	A	G	17: 24,943,159 (GRCm39)		probably null	Het
Ndufb9	C	T	15: 58,811,151 (GRCm39)	P146S	probably benign	Het
Nhsl1	T	C	10: 18,407,030 (GRCm39)	V1388A	probably damaging	Het
Nomo1	C	A	7: 45,732,748 (GRCm39)	D1170E	probably benign	Het
Nop2	G	T	6: 125,114,391 (GRCm39)	R254L	probably benign	Het
Nup160	A	T	2: 90,514,429 (GRCm39)	T126S	probably benign	Het
Opa1	A	G	16: 29,437,053 (GRCm39)	D654G	probably damaging	Het
Or1j15	T	C	2: 36,459,345 (GRCm39)	L245P	probably damaging	Het
Or2j6	A	T	7: 139,980,547 (GRCm39)	C137*	probably null	Het
Or51h1	A	G	7: 102,308,964 (GRCm39)	K312R	probably benign	Het
Or52e8b	C	T	7: 104,673,910 (GRCm39)	W92*	probably null	Het
Or5aq1b	A	G	2: 86,902,299 (GRCm39)	Y60H	probably damaging	Het
Or5p68	A	G	7: 107,945,958 (GRCm39)	S77P	probably damaging	Het
Or8b52	A	G	9: 38,576,711 (GRCm39)	L143P	probably damaging	Het
Or8k18	A	G	2: 86,085,380 (GRCm39)	M219T	probably benign	Het
Osbp2	T	A	11: 3,667,976 (GRCm39)	D7V	probably damaging	Het
Osr2	A	T	15: 35,301,010 (GRCm39)	I189F	probably damaging	Het
Pdlim5	A	G	3: 142,058,594 (GRCm39)	V50A	possibly damaging	Het
Pik3r3	A	G	4: 116,148,931 (GRCm39)	N334S	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppfia4	A	G	1: 134,240,326 (GRCm39)	I889T	probably damaging	Het
Prpf38b	T	C	3: 108,811,657 (GRCm39)	K403E	unknown	Het
Rgs20	T	G	1: 4,994,190 (GRCm39)	E31A	possibly damaging	Het
Rpl11	A	T	4: 135,780,000 (GRCm39)	M12K	possibly damaging	Het
Rreb1	C	A	13: 38,115,644 (GRCm39)	T1001K	probably benign	Het
Ruvbl1	A	G	6: 88,474,355 (GRCm39)	K453E	probably benign	Het
Sdc4	A	T	2: 164,270,959 (GRCm39)	V100D	probably benign	Het
Simc1	C	A	13: 54,672,147 (GRCm39)	T165K	probably benign	Het
Slc2a3	A	G	6: 122,717,408 (GRCm39)	V16A	probably benign	Het
Smbd1	A	T	16: 32,627,130 (GRCm39)	S53T	possibly damaging	Het
Smndc1	A	T	19: 53,372,074 (GRCm39)	N113K	possibly damaging	Het
Tas2r139	T	G	6: 42,118,168 (GRCm39)	F100C	probably damaging	Het
Tubgcp5	A	G	7: 55,467,106 (GRCm39)	Y692C	probably damaging	Het
Ube2d2a	T	C	18: 35,933,197 (GRCm39)	I78T	probably benign	Het
Ugt2b37	C	T	5: 87,401,996 (GRCm39)	V212I	probably benign	Het
Wars2	A	G	3: 99,124,063 (GRCm39)	D308G	possibly damaging	Het
Yeats2	G	A	16: 20,030,500 (GRCm39)		probably null	Het
Zfp385a	G	T	15: 103,224,318 (GRCm39)	H219N	possibly damaging	Het
Zfp407	T	C	18: 84,227,982 (GRCm39)	T1876A	probably damaging	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
R0926:Ly6e	UTSW	15	74,830,219 (GRCm39)	missense	probably damaging	0.99
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
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

Posted On

2021-12-30