Mutagenetix > Incidental Mutation

Incidental Mutation 'R7706:Ly6e'

594299

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

045767-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74826900-74831752 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74830183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 46 (S46P)

Ref Sequence

ENSEMBL: ENSMUSP00000056703 (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

possibly damaging
Transcript: ENSMUST00000051698
AA Change: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056703
Gene: ENSMUSG00000022587
AA Change: S46P

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: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132081
Gene: ENSMUSG00000022587
AA Change: S46P

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: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141145
Gene: ENSMUSG00000022587
AA Change: S46P

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: ENSMUST00000185863
AA Change: S62P

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140060
Gene: ENSMUSG00000022587
AA Change: S62P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187284
AA Change: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140553
Gene: ENSMUSG00000022587
AA Change: S46P

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: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139471
Gene: ENSMUSG00000022587
AA Change: S46P

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: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141059
Gene: ENSMUSG00000022587
AA Change: S46P

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: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140145
Gene: ENSMUSG00000022587
AA Change: S46P

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: ENSMUST00000189186
AA Change: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139477
Gene: ENSMUSG00000022587
AA Change: S46P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190810
AA Change: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139482
Gene: ENSMUSG00000022587
AA Change: S46P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191127
AA Change: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139966
Gene: ENSMUSG00000022587
AA Change: S46P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191145
AA Change: S61P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587
AA Change: S61P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191436
AA Change: S46P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139549
Gene: ENSMUSG00000022587
AA Change: S46P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	G	A	17: 46,044,583 (GRCm39)	T46I	unknown	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Atxn7l2	T	C	3: 108,114,719 (GRCm39)	D109G	probably damaging	Het
B4galnt3	C	A	6: 120,195,913 (GRCm39)	V305L	probably benign	Het
C9	T	A	15: 6,488,402 (GRCm39)	N85K	probably benign	Het
Cacna1g	T	C	11: 94,305,867 (GRCm39)	I1941V	probably benign	Het
Capn15	A	G	17: 26,183,125 (GRCm39)	V518A	probably benign	Het
Chst10	A	T	1: 38,905,106 (GRCm39)	Y200N	probably damaging	Het
Ciao3	T	C	17: 26,001,226 (GRCm39)	*493Q	probably null	Het
Cir1	A	G	2: 73,142,823 (GRCm39)	S4P	probably damaging	Het
Cish	G	A	9: 107,177,840 (GRCm39)	R172Q	probably benign	Het
Cnot10	A	T	9: 114,422,506 (GRCm39)	N693K	probably damaging	Het
Ddx6	A	G	9: 44,538,939 (GRCm39)	D249G	probably damaging	Het
Dennd6b	T	C	15: 89,069,447 (GRCm39)	D528G	probably benign	Het
Dmtf1	T	A	5: 9,174,489 (GRCm39)	T484S	possibly damaging	Het
Dnaaf5	T	C	5: 139,138,596 (GRCm39)	V259A	probably damaging	Het
Dzip1l	A	T	9: 99,519,589 (GRCm39)	S39C	probably damaging	Het
Efcab8	T	A	2: 153,623,695 (GRCm39)	M60K		Het
Eml2	T	A	7: 18,920,035 (GRCm39)	V113D	possibly damaging	Het
Fnip1	A	T	11: 54,406,325 (GRCm39)	I1141F	probably benign	Het
Gm7298	T	A	6: 121,712,570 (GRCm39)	S127R	probably damaging	Het
Hcn2	G	A	10: 79,570,017 (GRCm39)	R622Q	possibly damaging	Het
Ift172	C	T	5: 31,423,723 (GRCm39)	W746*	probably null	Het
Irs1	A	G	1: 82,265,412 (GRCm39)	Y935H	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Klhl20	T	C	1: 160,936,827 (GRCm39)	I183V	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lalba	T	C	15: 98,379,474 (GRCm39)	D103G	probably damaging	Het
Lpin3	T	C	2: 160,747,210 (GRCm39)	L822P	probably damaging	Het
Lrrc38	G	A	4: 143,076,845 (GRCm39)	C36Y	probably damaging	Het
Nav2	T	C	7: 49,244,067 (GRCm39)	I2098T	probably benign	Het
Nipbl	T	C	15: 8,381,010 (GRCm39)	E594G	probably benign	Het
Or52k2	T	A	7: 102,253,853 (GRCm39)	H97Q	probably benign	Het
Parn	T	C	16: 13,425,117 (GRCm39)	D432G	probably damaging	Het
Pcdh20	A	G	14: 88,704,793 (GRCm39)	S836P	probably damaging	Het
Pcmtd2	C	T	2: 181,496,868 (GRCm39)	R282C	probably damaging	Het
Ppp2r3c	A	G	12: 55,328,490 (GRCm39)	I425T	probably benign	Het
Samm50	T	A	15: 84,085,081 (GRCm39)		probably null	Het
Sars1	C	T	3: 108,338,780 (GRCm39)		probably null	Het
Senp8	A	G	9: 59,645,121 (GRCm39)	Y12H	possibly damaging	Het
Slc13a4	T	C	6: 35,247,290 (GRCm39)	I577V	possibly damaging	Het
Srr	T	G	11: 74,803,961 (GRCm39)		probably null	Het
Steap2	T	A	5: 5,732,967 (GRCm39)	N19I	possibly damaging	Het
Sucla2	A	G	14: 73,806,433 (GRCm39)	Y168C	probably damaging	Het
Tha1	T	C	11: 117,760,281 (GRCm39)	Q275R	probably damaging	Het
Trim56	T	C	5: 137,143,510 (GRCm39)	N2S	probably benign	Het
Tubgcp6	T	A	15: 88,988,426 (GRCm39)	H849L	probably benign	Het
Uevld	A	G	7: 46,597,775 (GRCm39)	I72T	possibly damaging	Het
Ybx1	A	G	4: 119,136,164 (GRCm39)	*323Q	probably null	Het
Zfp354b	C	T	11: 50,819,390 (GRCm39)		probably null	Het
Zfp36l2	A	T	17: 84,494,346 (GRCm39)	L97Q	probably benign	Het
Zfp729a	T	A	13: 67,771,612 (GRCm39)	R78S	possibly 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
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'- AAGTCAGTTGTCATTGGCTGGC -3'
(R):5'- GCCAAGGTTGACATTCCCTG -3'

Sequencing Primer
(F):5'- TGACCCAGGGCTGAGCATG -3'
(R):5'- CATTCCCTGCATGGAAAGTG -3'

Posted On

2019-11-12