Mutagenetix > Incidental Mutation

Incidental Mutation 'R9401:Ly6e'

711245

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74826900-74831752 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 74830153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 36 (K36*)

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

probably null
Transcript: ENSMUST00000051698
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000056703
Gene: ENSMUSG00000022587
AA Change: K36*

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 null
Transcript: ENSMUST00000169343
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000132081
Gene: ENSMUSG00000022587
AA Change: K36*

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 null
Transcript: ENSMUST00000185861
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000141145
Gene: ENSMUSG00000022587
AA Change: K36*

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 null
Transcript: ENSMUST00000185863
AA Change: K52*

SMART Domains

Protein: ENSMUSP00000140060
Gene: ENSMUSG00000022587
AA Change: K52*

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

Predicted Effect

probably null
Transcript: ENSMUST00000187284
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000140553
Gene: ENSMUSG00000022587
AA Change: K36*

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 null
Transcript: ENSMUST00000187606
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000139471
Gene: ENSMUSG00000022587
AA Change: K36*

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 null
Transcript: ENSMUST00000188042
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000141059
Gene: ENSMUSG00000022587
AA Change: K36*

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 null
Transcript: ENSMUST00000188866
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000140145
Gene: ENSMUSG00000022587
AA Change: K36*

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 null
Transcript: ENSMUST00000189186
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000139477
Gene: ENSMUSG00000022587
AA Change: K36*

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

Predicted Effect

probably null
Transcript: ENSMUST00000190810
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000139482
Gene: ENSMUSG00000022587
AA Change: K36*

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

Predicted Effect

probably null
Transcript: ENSMUST00000191127
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000139966
Gene: ENSMUSG00000022587
AA Change: K36*

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

Predicted Effect

probably null
Transcript: ENSMUST00000191145
AA Change: K51*

SMART Domains

Protein: ENSMUSP00000140829
Gene: ENSMUSG00000022587
AA Change: K51*

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

Predicted Effect

probably null
Transcript: ENSMUST00000191436
AA Change: K36*

SMART Domains

Protein: ENSMUSP00000139549
Gene: ENSMUSG00000022587
AA Change: K36*

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: 99.7%
20x: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,780,785 (GRCm39)	D850G	probably benign	Het
Abcc9	T	A	6: 142,543,836 (GRCm39)	T1480S	possibly damaging	Het
Adgrb3	C	A	1: 25,592,783 (GRCm39)	V335F	probably damaging	Het
Agfg1	C	A	1: 82,859,958 (GRCm39)	A275D	probably benign	Het
Alms1	T	A	6: 85,655,001 (GRCm39)	C2713*	probably null	Het
Atp8a1	G	A	5: 67,906,492 (GRCm39)	A474V		Het
Baz1a	C	A	12: 54,963,339 (GRCm39)	S918I	probably damaging	Het
Bcl2l12	G	T	7: 44,643,674 (GRCm39)	T120K	possibly damaging	Het
Bcl6	G	T	16: 23,791,107 (GRCm39)	Q416K	possibly damaging	Het
Cdhr1	T	A	14: 36,820,055 (GRCm39)	I16F	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Cilp	T	C	9: 65,185,381 (GRCm39)	V492A	probably damaging	Het
Crim1	CCGC	CC	17: 78,658,294 (GRCm39)		probably null	Het
Crppa	T	C	12: 36,552,073 (GRCm39)	V309A	probably benign	Het
Ctcfl	T	G	2: 172,947,881 (GRCm39)	T479P	probably damaging	Het
Dlx6	A	C	6: 6,863,581 (GRCm39)	M68L	probably benign	Het
Dnah7a	C	A	1: 53,568,026 (GRCm39)	V1857F	probably benign	Het
Dpy19l4	A	G	4: 11,265,806 (GRCm39)	V714A	probably benign	Het
Elovl7	T	A	13: 108,419,188 (GRCm39)	N273K	probably benign	Het
Fbxo22	A	G	9: 55,130,628 (GRCm39)	K299R	probably benign	Het
Fig4	A	G	10: 41,143,733 (GRCm39)	V242A	probably benign	Het
Fmo9	A	T	1: 166,505,189 (GRCm39)	M68K	probably damaging	Het
Fry	T	A	5: 150,302,403 (GRCm39)	Y537N	probably damaging	Het
Fryl	C	T	5: 73,222,563 (GRCm39)	W2006*	probably null	Het
Fzd8	T	A	18: 9,213,205 (GRCm39)	C96S	possibly damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,050,535 (GRCm39)	D272G	possibly damaging	Het
Gzmf	A	T	14: 56,448,813 (GRCm39)	M1K	probably null	Het
Hipk1	T	C	3: 103,685,295 (GRCm39)	T107A	probably benign	Het
Hsd3b9	T	G	3: 98,363,819 (GRCm39)	T9P	probably damaging	Het
Ighe	C	T	12: 113,233,107 (GRCm39)	C438Y		Het
Igkv4-50	T	A	6: 69,677,967 (GRCm39)	R46W		Het
Igsf3	T	A	3: 101,333,075 (GRCm39)	Y118N	probably damaging	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Jph3	A	G	8: 122,511,854 (GRCm39)	E614G	probably damaging	Het
Klk1b8	T	A	7: 43,603,674 (GRCm39)	D170E	probably benign	Het
Map3k6	C	A	4: 132,968,467 (GRCm39)	A23E	probably damaging	Het
Med13l	T	A	5: 118,883,089 (GRCm39)	M1316K	probably benign	Het
Or5c1	T	C	2: 37,222,293 (GRCm39)	V178A	possibly damaging	Het
Or6c76b	A	G	10: 129,693,298 (GRCm39)	R304G	probably benign	Het
Or8u3-ps	A	T	2: 85,952,368 (GRCm39)	I34F	possibly damaging	Het
Pih1d2	T	A	9: 50,529,905 (GRCm39)	C45S	probably damaging	Het
Pik3r2	G	A	8: 71,223,737 (GRCm39)	S318L	possibly damaging	Het
Pknox1	T	C	17: 31,802,752 (GRCm39)	I9T	probably benign	Het
Pknox2	T	C	9: 36,835,041 (GRCm39)	I143V	probably damaging	Het
Polr1d	A	G	5: 147,015,488 (GRCm39)	Y57C	probably damaging	Het
Pum3	A	T	19: 27,376,336 (GRCm39)	D527E	probably benign	Het
Rars2	T	A	4: 34,654,819 (GRCm39)	H374Q	probably damaging	Het
Rassf9	G	A	10: 102,348,369 (GRCm39)		probably benign	Het
Rbl1	T	A	2: 157,016,742 (GRCm39)	H619L	possibly damaging	Het
Scamp4	T	C	10: 80,448,238 (GRCm39)	V153A	probably benign	Het
Sec23b	T	G	2: 144,420,286 (GRCm39)	I450S	probably benign	Het
Slc35b2	A	G	17: 45,877,910 (GRCm39)	I297V	probably benign	Het
Slc4a4	C	T	5: 89,327,525 (GRCm39)	T654I	probably damaging	Het
Slc6a5	T	A	7: 49,601,185 (GRCm39)	M662K	probably damaging	Het
Smarcad1	T	C	6: 65,071,321 (GRCm39)	Y589H	probably benign	Het
Spata31d1e	T	C	13: 59,890,012 (GRCm39)	T603A	probably benign	Het
Stab1	A	T	14: 30,883,069 (GRCm39)	F374I	probably benign	Het
Stat5a	C	T	11: 100,756,254 (GRCm39)	T158M	possibly damaging	Het
Trpc3	A	T	3: 36,675,503 (GRCm39)	Y878*	probably null	Het
Ubr1	T	A	2: 120,765,765 (GRCm39)	T491S	probably benign	Het
Uggt1	C	T	1: 36,255,212 (GRCm39)		probably null	Het
Ugt1a6a	T	A	1: 88,066,882 (GRCm39)	Y229*	probably null	Het
Vmn1r225	G	A	17: 20,722,911 (GRCm39)	W117*	probably null	Het
Vmn1r225	A	C	17: 20,722,912 (GRCm39)	K118Q	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r116	T	C	17: 23,620,566 (GRCm39)	S767P	probably damaging	Het
Wdr90	AGAC	AGACGAC	17: 26,064,750 (GRCm39)		probably benign	Het
Ythdf3	C	T	3: 16,258,659 (GRCm39)	P280S	probably damaging	Het
Zbbx	A	G	3: 75,019,390 (GRCm39)	S107P	probably benign	Het
Zdhhc7	A	T	8: 120,813,425 (GRCm39)	V128E	probably benign	Het
Zfp235	A	G	7: 23,841,551 (GRCm39)	S657G	probably damaging	Het
Zfp442	T	A	2: 150,251,615 (GRCm39)	I96F	possibly damaging	Het
Zfp84	G	A	7: 29,476,297 (GRCm39)	E330K	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
R9087:Ly6e	UTSW	15	74,829,649 (GRCm39)	missense	probably benign	0.01
R9795:Ly6e	UTSW	15	74,830,390 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAAGTCAGTTGTCATTGGC -3'
(R):5'- GGTTGACATTCCCTGCATGG -3'

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

Posted On

2022-05-16