Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02145:Klra8'

281698

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: 0.049) question?

Stock #

IGL02145

Quality Score

Status

Chromosome

Chromosomal Location

130092189-130106861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130102199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 79 (N79D)

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

probably benign
Transcript: ENSMUST00000014476
AA Change: N79D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000014476
Gene: ENSMUSG00000089727
AA Change: N79D

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agt	A	G	8: 125,291,187 (GRCm39)	L40P	probably damaging	Het
Ahnak	T	C	19: 8,980,219 (GRCm39)	I501T	probably benign	Het
Aldh2	A	G	5: 121,706,056 (GRCm39)	*196Q	probably null	Het
Ankrd65	A	G	4: 155,875,848 (GRCm39)	D23G	possibly damaging	Het
Anln	A	T	9: 22,250,292 (GRCm39)		probably null	Het
Armc3	C	T	2: 19,301,671 (GRCm39)	S663L	possibly damaging	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Cul5	A	T	9: 53,546,375 (GRCm39)		probably benign	Het
Cyba	T	C	8: 123,151,796 (GRCm39)	I134V	probably damaging	Het
Cybb	T	A	X: 9,323,257 (GRCm39)	Q93H	probably damaging	Het
Cyp4f37	G	T	17: 32,849,009 (GRCm39)	K292N	probably benign	Het
Dmxl2	T	C	9: 54,281,981 (GRCm39)	I2850V	probably benign	Het
Ep300	T	C	15: 81,485,367 (GRCm39)	I118T	unknown	Het
Ercc6l	G	T	X: 101,189,148 (GRCm39)	P454T	probably benign	Het
Grxcr1	A	G	5: 68,267,821 (GRCm39)	E190G	probably damaging	Het
Heatr3	C	T	8: 88,871,227 (GRCm39)	R194C	probably benign	Het
Hspa12b	C	T	2: 130,985,655 (GRCm39)		probably benign	Het
Inpp5d	T	C	1: 87,642,777 (GRCm39)	V644A	probably damaging	Het
Kif26a	G	A	12: 112,143,409 (GRCm39)	R1221H	probably benign	Het
Kntc1	T	C	5: 123,900,661 (GRCm39)	I253T	possibly damaging	Het
Lamp5	T	C	2: 135,901,509 (GRCm39)	V111A	possibly damaging	Het
Lmo7	T	C	14: 102,139,659 (GRCm39)	S859P	probably benign	Het
Mgarp	T	C	3: 51,296,453 (GRCm39)	Q205R	possibly damaging	Het
Morf4l1	A	G	9: 89,975,848 (GRCm39)	Y315H	probably benign	Het
Naip6	A	T	13: 100,433,486 (GRCm39)	V1117E	possibly damaging	Het
Nipal1	A	G	5: 72,824,274 (GRCm39)	D206G	probably damaging	Het
Notch3	A	G	17: 32,373,715 (GRCm39)	S498P	probably benign	Het
Npepps	A	G	11: 97,109,328 (GRCm39)		probably null	Het
Or14c46	C	A	7: 85,918,466 (GRCm39)	C177F	probably damaging	Het
Or2ak6	T	C	11: 58,592,886 (GRCm39)	Y120H	probably damaging	Het
Phlpp1	A	G	1: 106,317,613 (GRCm39)	H1278R	probably damaging	Het
Pprc1	C	A	19: 46,053,329 (GRCm39)		probably benign	Het
Rab8b	A	T	9: 66,755,000 (GRCm39)		probably benign	Het
Ripor2	T	A	13: 24,901,554 (GRCm39)	I875N	probably damaging	Het
Samd9l	T	C	6: 3,374,105 (GRCm39)	E1052G	probably benign	Het
Slit3	A	T	11: 35,520,569 (GRCm39)	I569F	probably damaging	Het
Spata2l	C	T	8: 123,960,770 (GRCm39)	G173D	possibly damaging	Het
Stc2	T	G	11: 31,317,875 (GRCm39)		probably benign	Het
Tm6sf1	C	A	7: 81,513,000 (GRCm39)	Y65*	probably null	Het
Tspan15	A	G	10: 62,029,751 (GRCm39)		probably benign	Het
Vmn2r14	A	T	5: 109,368,454 (GRCm39)	Y179*	probably null	Het
Washc5	C	A	15: 59,241,060 (GRCm39)	V92L	probably benign	Het
Wiz	A	G	17: 32,575,893 (GRCm39)	S838P	probably benign	Het
Zp2	T	A	7: 119,739,074 (GRCm39)		probably null	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
IGL02531:Klra8	APN	6	130,095,933 (GRCm39)	missense	possibly damaging	0.67
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