Mutagenetix > Incidental Mutation

Incidental Mutation 'R1148:Ly6h'

165218

Institutional Source

Beutler Lab

Gene Symbol

Ly6h

Ensembl Gene

ENSMUSG00000022577

Gene Name

lymphocyte antigen 6 family member H

Synonyms

MMRRC Submission

039221-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1148 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

75436594-75439114 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 75437021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 118 (S118R)

Ref Sequence

ENSEMBL: ENSMUSP00000130781 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023241] [ENSMUST00000065417] [ENSMUST00000126129] [ENSMUST00000127095] [ENSMUST00000156032] [ENSMUST00000163116]

AlphaFold

Q9WUC3

Predicted Effect

unknown
Transcript: ENSMUST00000023241
AA Change: S118R

SMART Domains

Protein: ENSMUSP00000023241
Gene: ENSMUSG00000022577
AA Change: S118R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LU	26	123	2.68e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000065417
AA Change: S118R

SMART Domains

Protein: ENSMUSP00000070646
Gene: ENSMUSG00000022577
AA Change: S118R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LU	26	123	2.68e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000126129
AA Change: S118R

SMART Domains

Protein: ENSMUSP00000121951
Gene: ENSMUSG00000022577
AA Change: S118R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LU	26	123	2.68e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000127095
AA Change: S139R

SMART Domains

Protein: ENSMUSP00000122061
Gene: ENSMUSG00000022577
AA Change: S139R

Domain	Start	End	E-Value	Type
signal peptide	1	46	N/A	INTRINSIC
LU	47	144	2.68e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150125

Predicted Effect

unknown
Transcript: ENSMUST00000156032
AA Change: S139R

SMART Domains

Protein: ENSMUSP00000122878
Gene: ENSMUSG00000022577
AA Change: S139R

Domain	Start	End	E-Value	Type
signal peptide	1	46	N/A	INTRINSIC
LU	47	144	2.68e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000163116
AA Change: S118R

SMART Domains

Protein: ENSMUSP00000130781
Gene: ENSMUSG00000022577
AA Change: S118R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LU	26	123	2.68e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228961

Meta Mutation Damage Score

0.3284

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
AC149051.1	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Alg10b	T	C	15: 90,112,068 (GRCm39)	F304S	possibly damaging	Het
Ank3	C	T	10: 69,718,369 (GRCm39)	S540F	probably damaging	Het
Arhgef16	T	C	4: 154,365,346 (GRCm39)	N590D	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bbs9	T	C	9: 22,486,396 (GRCm39)		probably benign	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Cilp	T	A	9: 65,187,598 (GRCm39)	L1231Q	possibly damaging	Het
Coq8a	G	A	1: 179,996,968 (GRCm39)		probably benign	Het
Cyp4x1	A	G	4: 114,983,752 (GRCm39)		probably benign	Het
Dars1	T	C	1: 128,294,646 (GRCm39)		probably benign	Het
Disp2	G	A	2: 118,636,899 (GRCm39)		probably null	Het
Dnah5	T	C	15: 28,421,836 (GRCm39)	L3896P	probably damaging	Het
Dpp8	T	C	9: 64,961,114 (GRCm39)		probably null	Het
Esp4	A	C	17: 40,913,262 (GRCm39)	N43T	probably benign	Het
Fat3	T	C	9: 15,908,070 (GRCm39)	D2644G	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Homo
Hexd	A	G	11: 121,112,093 (GRCm39)	I438V	probably benign	Het
Lonp2	A	G	8: 87,363,168 (GRCm39)	E262G	probably benign	Het
Mapk12	T	C	15: 89,018,826 (GRCm39)	Y203C	probably damaging	Het
Mapk15	A	G	15: 75,870,004 (GRCm39)	T375A	probably benign	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or5g9	C	A	2: 85,552,620 (GRCm39)	Y290*	probably null	Het
Osbpl11	T	C	16: 33,047,582 (GRCm39)	F515S	probably damaging	Het
Pcdh15	T	C	10: 74,006,392 (GRCm39)	V90A	probably damaging	Het
Ptpn4	T	A	1: 119,603,439 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,612,270 (GRCm39)	D41G	probably damaging	Het
Rbm4b	A	G	19: 4,807,527 (GRCm39)	H81R	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sh3d19	A	G	3: 86,014,634 (GRCm39)	D475G	possibly damaging	Het
Shprh	T	C	10: 11,089,226 (GRCm39)	S1655P	possibly damaging	Het
Slc25a12	G	A	2: 71,142,912 (GRCm39)		probably benign	Het
Strc	A	G	2: 121,202,558 (GRCm39)		probably benign	Het
Trp53rka	C	A	2: 165,334,961 (GRCm39)		probably benign	Het
Ttc22	G	A	4: 106,480,228 (GRCm39)	V161M	probably damaging	Het
Unc79	T	C	12: 103,078,926 (GRCm39)	L1504P	probably damaging	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het
Wnk1	A	G	6: 119,928,967 (GRCm39)		probably benign	Het
Wsb2	T	C	5: 117,508,742 (GRCm39)		probably benign	Het

Other mutations in Ly6h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Ly6h	APN	15	75,436,948 (GRCm39)	utr 3 prime	probably benign
R1148:Ly6h	UTSW	15	75,437,021 (GRCm39)	missense	unknown
R1265:Ly6h	UTSW	15	75,438,032 (GRCm39)	missense	probably benign	0.05
R1468:Ly6h	UTSW	15	75,437,986 (GRCm39)	missense	probably benign	0.09
R1468:Ly6h	UTSW	15	75,437,986 (GRCm39)	missense	probably benign	0.09
R2235:Ly6h	UTSW	15	75,437,038 (GRCm39)	missense	probably benign
R6918:Ly6h	UTSW	15	75,437,507 (GRCm39)	missense	probably damaging	0.99
R8058:Ly6h	UTSW	15	75,437,061 (GRCm39)	missense	probably benign	0.01
R8807:Ly6h	UTSW	15	75,438,056 (GRCm39)	missense	probably benign	0.05
R9131:Ly6h	UTSW	15	75,437,522 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGAGAGCCTCAGACCTTGATGCC -3'
(R):5'- TCAGATGGAAGTGGACCTTAGCCC -3'

Sequencing Primer
(F):5'- GATGCCAAACCCTTGCTG -3'
(R):5'- GACCTTAGCCCCCATGC -3'

Posted On

2014-03-28