Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02531:Klra8'

297300

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klra8

Ensembl Gene

ENSMUSG00000089727

Gene Name

killer cell lectin-like receptor, subfamily A, member 8

Synonyms

Ly49u<129>, Ly49h, Cmv1, Cmv-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL02531

Quality Score

Status

Chromosome

Chromosomal Location

130092189-130106861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130095933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 220 (S220P)

Ref Sequence

ENSEMBL: ENSMUSP00000014476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014476]

AlphaFold

Q60682

PDB Structure

Crystal structure of the activating Ly49H receptor in complex with m157 (G1F strain) [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014476
AA Change: S220P

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000014476
Gene: ENSMUSG00000089727
AA Change: S220P

Domain	Start	End	E-Value	Type
Blast:CLECT	73	124	9e-8	BLAST
CLECT	143	258	6.53e-15	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Most mouse strains other than C57BL/6 and C57BL/10 lack this gene and this correlates with an increased susceptiblity to CMV infection. A congenic strain in which the CMV resistant allele from C57BL/6 mice has been introduced in the BALB/c background shows high susceptibility to malarial infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	A	6: 86,933,429 (GRCm39)	H467N	unknown	Het
Alb	A	G	5: 90,615,307 (GRCm39)	D273G	probably damaging	Het
Arap3	A	G	18: 38,122,804 (GRCm39)	S531P	probably damaging	Het
Bmpr2	T	A	1: 59,884,873 (GRCm39)		probably null	Het
Cfhr4	T	C	1: 139,702,307 (GRCm39)	K59R	probably benign	Het
Chd7	G	A	4: 8,854,134 (GRCm39)	R1902H	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2b13	A	T	7: 25,761,030 (GRCm39)	H29L	possibly damaging	Het
Enpp5	G	T	17: 44,391,843 (GRCm39)	V91F	probably damaging	Het
Fam210b	T	C	2: 172,194,675 (GRCm39)	Y176H	probably damaging	Het
Fam83b	T	C	9: 76,399,282 (GRCm39)	E607G	possibly damaging	Het
Hhla1	C	T	15: 65,839,256 (GRCm39)		probably benign	Het
Kdm3b	A	G	18: 34,928,782 (GRCm39)	T178A	probably benign	Het
Klf1	T	A	8: 85,631,437 (GRCm39)	F334I	probably damaging	Het
Medag	A	G	5: 149,345,616 (GRCm39)	N99S	probably benign	Het
Muc6	T	C	7: 141,216,853 (GRCm39)	T2607A	possibly damaging	Het
Mug2	T	G	6: 122,049,730 (GRCm39)	L921R	probably damaging	Het
Nacad	T	C	11: 6,548,580 (GRCm39)	N1385D	possibly damaging	Het
Nin	A	G	12: 70,067,706 (GRCm39)	F1983L	probably benign	Het
Nipal4	T	C	11: 46,042,152 (GRCm39)	I176M	probably damaging	Het
Orc6	T	C	8: 86,029,998 (GRCm39)	S47P	probably damaging	Het
Ovch2	C	T	7: 107,389,405 (GRCm39)	C341Y	probably damaging	Het
Polq	T	A	16: 36,882,736 (GRCm39)	H1633Q	possibly damaging	Het
Rab23	T	C	1: 33,777,361 (GRCm39)		probably benign	Het
Rai14	A	G	15: 10,574,868 (GRCm39)	S697P	probably damaging	Het
Rnf213	T	C	11: 119,327,628 (GRCm39)	F1872L	probably benign	Het
Sdhc	T	C	1: 170,963,587 (GRCm39)	H127R	probably damaging	Het
Snx9	T	C	17: 5,942,095 (GRCm39)	V74A	probably benign	Het
Spata31d1d	A	G	13: 59,875,748 (GRCm39)	S596P	possibly damaging	Het
Syt14	T	C	1: 192,584,242 (GRCm39)	*78W	probably null	Het
Thoc1	A	G	18: 9,970,258 (GRCm39)	T203A	probably benign	Het
Trmt13	A	G	3: 116,385,840 (GRCm39)		probably null	Het
Ttc28	A	G	5: 111,373,716 (GRCm39)	I1020V	probably damaging	Het
Vmn2r16	A	G	5: 109,488,134 (GRCm39)	T336A	probably damaging	Het

Other mutations in Klra8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Klra8	APN	6	130,092,561 (GRCm39)	missense	probably benign
IGL01786:Klra8	APN	6	130,096,031 (GRCm39)	critical splice acceptor site	probably null
IGL02145:Klra8	APN	6	130,102,199 (GRCm39)	missense	probably benign	0.01
P4748:Klra8	UTSW	6	130,099,007 (GRCm39)	missense	possibly damaging	0.51
R0082:Klra8	UTSW	6	130,102,018 (GRCm39)	missense	probably benign	0.00
R0853:Klra8	UTSW	6	130,095,977 (GRCm39)	missense	probably damaging	1.00
R1517:Klra8	UTSW	6	130,092,603 (GRCm39)	missense	probably benign	0.02
R1610:Klra8	UTSW	6	130,095,981 (GRCm39)	missense	probably damaging	1.00
R1669:Klra8	UTSW	6	130,092,592 (GRCm39)	nonsense	probably null
R2015:Klra8	UTSW	6	130,092,536 (GRCm39)	missense	probably damaging	1.00
R3784:Klra8	UTSW	6	130,102,018 (GRCm39)	missense	probably benign	0.02
R6909:Klra8	UTSW	6	130,102,123 (GRCm39)	missense	probably benign	0.03
R7009:Klra8	UTSW	6	130,102,147 (GRCm39)	missense	probably benign	0.02
R8443:Klra8	UTSW	6	130,105,056 (GRCm39)	missense	probably damaging	0.98
R9055:Klra8	UTSW	6	130,096,017 (GRCm39)	missense	probably benign	0.00
X0013:Klra8	UTSW	6	130,102,082 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16