Mutagenetix > Incidental Mutation

Incidental Mutation 'R2043:Ly6g6e'

225249

Institutional Source

Beutler Lab

Gene Symbol

Ly6g6e

Ensembl Gene

ENSMUSG00000013766

Gene Name

lymphocyte antigen 6 family member G6E

Synonyms

G6e, 2310011I02Rik

MMRRC Submission

040050-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R2043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35295878-35297780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35296840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 27 (R27Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007259] [ENSMUST00000013910] [ENSMUST00000038507] [ENSMUST00000172494] [ENSMUST00000172678] [ENSMUST00000172959]

AlphaFold

Q8K1T6

Predicted Effect

probably benign
Transcript: ENSMUST00000007259

SMART Domains

Protein: ENSMUSP00000007259
Gene: ENSMUSG00000073413

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	121	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000013910
AA Change: R27Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000013910
Gene: ENSMUSG00000013766
AA Change: R27Q

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LU	28	117	1.65e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000038507

SMART Domains

Protein: ENSMUSP00000046380
Gene: ENSMUSG00000034923

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IG	21	127	6.02e-7	SMART
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172494
AA Change: R27Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133645
Gene: ENSMUSG00000013766
AA Change: R27Q

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:LU	28	50	1e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172639

Predicted Effect

probably benign
Transcript: ENSMUST00000172678
AA Change: R27Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134073
Gene: ENSMUSG00000013766
AA Change: R27Q

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LU	28	117	1.65e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172745

Predicted Effect

probably benign
Transcript: ENSMUST00000172959
AA Change: R27Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133753
Gene: ENSMUSG00000013766
AA Change: R27Q

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Activin_recp	82	143	2.3e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173120

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	G	8: 25,486,669 (GRCm39)		probably null	Het
Adnp2	A	C	18: 80,171,541 (GRCm39)	M956R	probably damaging	Het
Aldh1l1	T	A	6: 90,534,314 (GRCm39)	D36E	probably benign	Het
Ankmy1	T	C	1: 92,804,249 (GRCm39)		probably benign	Het
Apaf1	T	C	10: 90,872,890 (GRCm39)	D718G	probably damaging	Het
Ascc3	C	T	10: 50,576,616 (GRCm39)	P857L	probably damaging	Het
Atp8b1	T	C	18: 64,738,271 (GRCm39)	K60R	possibly damaging	Het
Bub1	A	T	2: 127,646,140 (GRCm39)	C947S	probably damaging	Het
Cacna1c	C	T	6: 118,573,049 (GRCm39)	G2017D	probably benign	Het
Capn3	A	G	2: 120,322,382 (GRCm39)	N414S	possibly damaging	Het
Ccdc110	T	C	8: 46,395,864 (GRCm39)	M585T	probably benign	Het
Cep85l	A	T	10: 53,234,224 (GRCm39)	N51K	possibly damaging	Het
Cftr	T	C	6: 18,320,934 (GRCm39)	F1415L	probably benign	Het
Cln5	T	C	14: 103,313,380 (GRCm39)	S211P	probably damaging	Het
Dcaf5	A	T	12: 80,386,991 (GRCm39)	D378E	probably benign	Het
Dhx57	A	G	17: 80,560,509 (GRCm39)		probably benign	Het
Dsn1	G	A	2: 156,847,273 (GRCm39)	S55L	possibly damaging	Het
Eif5b	T	C	1: 38,080,900 (GRCm39)	F747S	probably damaging	Het
Entrep3	A	G	3: 89,092,874 (GRCm39)	Y251C	probably damaging	Het
Fbxo25	A	G	8: 13,971,905 (GRCm39)	I86V	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glcci1	T	A	6: 8,582,590 (GRCm39)	I130K	probably damaging	Het
Gm5424	A	G	10: 61,906,990 (GRCm39)		noncoding transcript	Het
Gsdma	G	A	11: 98,557,046 (GRCm39)	V54M	possibly damaging	Het
H3c3	A	G	13: 23,929,278 (GRCm39)	F68S	probably damaging	Het
Heatr3	T	A	8: 88,874,322 (GRCm39)		probably benign	Het
Hspa13	A	G	16: 75,555,156 (GRCm39)	L310S	probably benign	Het
Il6st	A	C	13: 112,616,753 (GRCm39)	Q100P	probably benign	Het
Mis18bp1	A	T	12: 65,196,192 (GRCm39)	I524K	probably damaging	Het
Myo18a	T	C	11: 77,714,189 (GRCm39)	I761T	probably damaging	Het
Mypop	T	C	7: 18,734,944 (GRCm39)		probably benign	Het
Or51ag1	A	G	7: 103,156,150 (GRCm39)	M1T	probably null	Het
Pcdh20	G	A	14: 88,704,591 (GRCm39)	T903I	probably benign	Het
Pdk4	A	T	6: 5,485,502 (GRCm39)	C396S	probably benign	Het
Piwil2	A	G	14: 70,628,919 (GRCm39)	V699A	probably benign	Het
Plekha5	T	C	6: 140,498,530 (GRCm39)		probably benign	Het
Ralgapa1	T	A	12: 55,723,811 (GRCm39)	I1572L	probably damaging	Het
Rasgrf2	T	A	13: 92,167,351 (GRCm39)	M241L	possibly damaging	Het
Ryr1	C	T	7: 28,759,056 (GRCm39)	R3374H	probably damaging	Het
Slc24a2	A	T	4: 86,914,882 (GRCm39)	M519K	probably damaging	Het
Smg9	T	A	7: 24,105,001 (GRCm39)	I67N	possibly damaging	Het
Spart	G	A	3: 55,034,969 (GRCm39)	A452T	probably damaging	Het
Ush2a	T	A	1: 188,648,453 (GRCm39)	F4686Y	probably benign	Het
Zfp146	T	C	7: 29,861,664 (GRCm39)	K126R	possibly damaging	Het
Zfp386	T	A	12: 116,022,781 (GRCm39)	D131E	probably benign	Het
Zfp423	T	C	8: 88,509,246 (GRCm39)	D366G	probably damaging	Het
Zfp729a	T	C	13: 67,769,291 (GRCm39)	K313E	probably damaging	Het
Zfp955a	G	A	17: 33,461,527 (GRCm39)	H202Y	possibly damaging	Het

Other mutations in Ly6g6e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03376:Ly6g6e	APN	17	35,297,208 (GRCm39)	makesense	probably null
BB002:Ly6g6e	UTSW	17	35,296,894 (GRCm39)	missense	probably damaging	0.98
BB012:Ly6g6e	UTSW	17	35,296,894 (GRCm39)	missense	probably damaging	0.98
R0798:Ly6g6e	UTSW	17	35,297,017 (GRCm39)	missense	probably benign	0.00
R1186:Ly6g6e	UTSW	17	35,296,984 (GRCm39)	missense	probably benign	0.01
R2420:Ly6g6e	UTSW	17	35,297,122 (GRCm39)	missense	probably benign	0.07
R2421:Ly6g6e	UTSW	17	35,297,122 (GRCm39)	missense	probably benign	0.07
R2422:Ly6g6e	UTSW	17	35,297,122 (GRCm39)	missense	probably benign	0.07
R3873:Ly6g6e	UTSW	17	35,296,159 (GRCm39)	missense	probably benign	0.12
R7925:Ly6g6e	UTSW	17	35,296,894 (GRCm39)	missense	probably damaging	0.98
R9582:Ly6g6e	UTSW	17	35,296,159 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GGTCACTGTGTCCCTCTTGT -3'
(R):5'- GAATGCTGAGGTTGCGGC -3'

Sequencing Primer
(F):5'- TGCCTGATTCTCTGCATCG -3'
(R):5'- CAGAGTCCTACCTGAGGT -3'

Posted On

2014-08-25