Mutagenetix > Incidental Mutation

Incidental Mutation 'R2374:Ly6e'

248242

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

040353-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74826900-74831752 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74830470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 107 (S107G)

Ref Sequence

ENSEMBL: ENSMUSP00000139549 (fasta)

Gene Model

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

AlphaFold

Q64253

Predicted Effect

probably damaging
Transcript: ENSMUST00000051698
AA Change: S107G

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

SMART Domains

Protein: ENSMUSP00000056703
Gene: ENSMUSG00000022587
AA Change: S107G

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: ENSMUST00000169343
AA Change: S107G

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

SMART Domains

Protein: ENSMUSP00000132081
Gene: ENSMUSG00000022587
AA Change: S107G

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: ENSMUST00000185861
AA Change: S107G

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

SMART Domains

Protein: ENSMUSP00000141145
Gene: ENSMUSG00000022587
AA Change: S107G

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

SMART Domains

Protein: ENSMUSP00000140060
Gene: ENSMUSG00000022587

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

probably damaging
Transcript: ENSMUST00000187284
AA Change: S107G

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

SMART Domains

Protein: ENSMUSP00000140553
Gene: ENSMUSG00000022587
AA Change: S107G

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: ENSMUST00000187606
AA Change: S107G

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

SMART Domains

Protein: ENSMUSP00000139471
Gene: ENSMUSG00000022587
AA Change: S107G

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: S107G

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

SMART Domains

Protein: ENSMUSP00000139482
Gene: ENSMUSG00000022587
AA Change: S107G

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: ENSMUST00000188866
AA Change: S107G

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

SMART Domains

Protein: ENSMUSP00000140145
Gene: ENSMUSG00000022587
AA Change: S107G

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: ENSMUST00000191127
AA Change: S107G

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

SMART Domains

Protein: ENSMUSP00000139966
Gene: ENSMUSG00000022587
AA Change: S107G

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: ENSMUST00000191436
AA Change: S107G

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

SMART Domains

Protein: ENSMUSP00000139549
Gene: ENSMUSG00000022587
AA Change: S107G

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: ENSMUST00000188042
AA Change: S107G

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

SMART Domains

Protein: ENSMUSP00000141059
Gene: ENSMUSG00000022587
AA Change: S107G

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

noncoding transcript
Transcript: ENSMUST00000191439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188503

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: ENSMUST00000191145

SMART Domains

Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587

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

Meta Mutation Damage Score

0.1643

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 92.7%

Validation Efficiency

97% (33/34)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	C	T	18: 80,174,202 (GRCm39)	R69Q	probably damaging	Het
Bltp1	A	G	3: 36,939,545 (GRCm39)	D133G	probably benign	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Clec4b1	T	G	6: 123,027,597 (GRCm39)	L18R	probably damaging	Het
Cntrl	G	A	2: 35,043,288 (GRCm39)	V706I	possibly damaging	Het
Dhx30	A	G	9: 109,920,632 (GRCm39)	L294P	probably damaging	Het
Dnaaf9	A	G	2: 130,662,494 (GRCm39)	Y60H	probably damaging	Het
Dysf	T	C	6: 84,074,711 (GRCm39)	L504P	probably damaging	Het
Gm10754	A	G	10: 97,518,013 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,764 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,291,780 (GRCm39)	N3424S	probably damaging	Het
Itgb2	G	A	10: 77,395,515 (GRCm39)	V539I	probably benign	Het
Itgb5	T	A	16: 33,740,168 (GRCm39)	V426E	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Myo15a	T	G	11: 60,369,669 (GRCm39)	S810A	possibly damaging	Het
Neb	A	G	2: 52,153,669 (GRCm39)	W2419R	probably damaging	Het
Nkpd1	A	T	7: 19,257,900 (GRCm39)	T560S	possibly damaging	Het
Or2n1c	T	C	17: 38,519,958 (GRCm39)	M274T	probably damaging	Het
Or4b1b	A	T	2: 90,112,795 (GRCm39)	S41R	possibly damaging	Het
Rasa3	A	G	8: 13,627,411 (GRCm39)	L697P	probably damaging	Het
Sptbn4	A	G	7: 27,059,517 (GRCm39)	Y2443H	probably damaging	Het
Steap2	A	G	5: 5,725,845 (GRCm39)	I393T	probably damaging	Het
Tbc1d12	T	A	19: 38,825,614 (GRCm39)	L155Q	possibly damaging	Het
Tnni3k	A	T	3: 154,492,422 (GRCm39)	M816K	probably benign	Het
Ugt2a3	T	C	5: 87,475,050 (GRCm39)	D398G	probably damaging	Het
Vmn1r25	A	T	6: 57,955,543 (GRCm39)	S249T	probably benign	Het
Vmn2r17	C	A	5: 109,575,104 (GRCm39)	P137Q	probably benign	Het
Zbtb26	A	G	2: 37,326,497 (GRCm39)	S180P	probably benign	Het
Zfy1	A	T	Y: 726,391 (GRCm39)	L458Q	probably damaging	Het
Zfy1	G	C	Y: 726,392 (GRCm39)	L458V	possibly damaging	Het
Zmpste24	T	C	4: 120,931,734 (GRCm39)	E297G	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
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
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'- GTGAGTAGCTGCCTGTTTCC -3'
(R):5'- AGCTGAAGGTTCCTAGGGTC -3'

Sequencing Primer
(F):5'- GAGTAGCTGCCTGTTTCCCTAGC -3'
(R):5'- TCCCCTGGGACCTAAAAGGAG -3'

Posted On

2014-11-11