Mutagenetix > Incidental Mutation

Incidental Mutation 'R6713:Klre1'

529207

Institutional Source

Beutler Lab

Gene Symbol

Klre1

Ensembl Gene

ENSMUSG00000050241

Gene Name

killer cell lectin-like receptor family E member 1

Synonyms

NKG2I, Klre-1

MMRRC Submission

044831-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6713 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129554868-129562790 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 129559229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000055779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053708] [ENSMUST00000203322]

AlphaFold

Q8CJC7

Predicted Effect

probably null
Transcript: ENSMUST00000053708

SMART Domains

Protein: ENSMUSP00000055779
Gene: ENSMUSG00000050241

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
CLECT	113	225	5.69e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203322

SMART Domains

Protein: ENSMUSP00000145085
Gene: ENSMUSG00000050241

Domain	Start	End	E-Value	Type
low complexity region	41	51	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203865

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.9%

Validation Efficiency

100% (39/39)

MGI Phenotype

PHENOTYPE: Homozygous null mice are viable and fertile and display impaired natural killer cell mediated allogeneic cytotoxicity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol10a	C	T	15: 77,373,051 (GRCm39)	T229M	possibly damaging	Het
Cdh16	G	A	8: 105,346,617 (GRCm39)	Q226*	probably null	Het
Cemip	A	T	7: 83,592,845 (GRCm39)	N1227K	probably benign	Het
Dusp13b	A	G	14: 21,798,541 (GRCm39)	V41A	probably damaging	Het
F3	C	T	3: 121,525,323 (GRCm39)	T53I	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fyb2	T	A	4: 104,847,432 (GRCm39)	M484K	probably benign	Het
Glb1l	A	T	1: 75,179,061 (GRCm39)	H253Q	probably benign	Het
Grm8	T	C	6: 27,363,190 (GRCm39)	E775G	probably damaging	Het
Hipk3	C	T	2: 104,276,916 (GRCm39)	V388M	probably damaging	Het
Ighe	T	C	12: 113,232,908 (GRCm39)		probably benign	Het
Kif14	A	G	1: 136,453,544 (GRCm39)	T1491A	probably benign	Het
Kpna6	A	T	4: 129,547,777 (GRCm39)	L257M	probably damaging	Het
Ldhc	G	A	7: 46,515,955 (GRCm39)		probably null	Het
Lekr1	C	A	3: 65,591,380 (GRCm39)	A39D	probably benign	Het
Lins1	A	G	7: 66,358,230 (GRCm39)	T122A	probably benign	Het
Lrrc40	G	A	3: 157,769,350 (GRCm39)	R516Q	probably benign	Het
Meis3	G	T	7: 15,916,255 (GRCm39)	G72*	probably null	Het
Mpo	A	G	11: 87,686,194 (GRCm39)	T115A	probably damaging	Het
Mrgprb5	A	G	7: 47,818,537 (GRCm39)	V66A	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nags	C	A	11: 102,037,347 (GRCm39)	A146E	probably benign	Het
Nkain4	C	T	2: 180,585,970 (GRCm39)	G31D	probably damaging	Het
Or2y1	T	G	11: 49,385,784 (GRCm39)	C141W	probably damaging	Het
Or4k1	T	A	14: 50,377,181 (GRCm39)	H305L	probably benign	Het
Or5ak24	A	C	2: 85,260,883 (GRCm39)	C97G	probably damaging	Het
Or8a1	A	G	9: 37,641,560 (GRCm39)	C240R	probably damaging	Het
Otud6b	C	T	4: 14,822,739 (GRCm39)	V122I	probably benign	Het
Ovca2	C	T	11: 75,069,569 (GRCm39)	S18N	possibly damaging	Het
Pax2	A	G	19: 44,823,916 (GRCm39)	S370G	unknown	Het
Pias2	G	A	18: 77,153,416 (GRCm39)		probably null	Het
Slc2a10	T	C	2: 165,357,128 (GRCm39)	F263L	probably damaging	Het
Slc6a17	T	G	3: 107,378,703 (GRCm39)	M660L	probably benign	Het
Smarcc2	A	G	10: 128,323,638 (GRCm39)		probably null	Het
Srcap	A	G	7: 127,134,089 (GRCm39)	T937A	probably benign	Het
Ssh2	C	A	11: 77,340,259 (GRCm39)	D470E	possibly damaging	Het
St8sia1	A	T	6: 142,775,008 (GRCm39)		probably null	Het
Supt20	T	A	3: 54,606,022 (GRCm39)	I36K	possibly damaging	Het
Tor1aip2	T	A	1: 155,941,155 (GRCm39)	L487Q	probably damaging	Het
Zfp619	G	T	7: 39,187,322 (GRCm39)	K1117N	probably damaging	Het

Other mutations in Klre1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Klre1	APN	6	129,561,133 (GRCm39)	missense	possibly damaging	0.78
IGL01677:Klre1	APN	6	129,559,006 (GRCm39)	missense	probably damaging	0.99
IGL03329:Klre1	APN	6	129,562,660 (GRCm39)	utr 3 prime	probably benign
R0533:Klre1	UTSW	6	129,560,156 (GRCm39)	missense	probably damaging	1.00
R0731:Klre1	UTSW	6	129,562,531 (GRCm39)	splice site	probably benign
R0961:Klre1	UTSW	6	129,559,378 (GRCm39)	missense	probably benign	0.01
R2151:Klre1	UTSW	6	129,556,996 (GRCm39)	missense	possibly damaging	0.94
R2266:Klre1	UTSW	6	129,562,593 (GRCm39)	missense	probably benign	0.00
R3982:Klre1	UTSW	6	129,560,101 (GRCm39)	nonsense	probably null
R4791:Klre1	UTSW	6	129,561,118 (GRCm39)	missense	probably damaging	1.00
R4901:Klre1	UTSW	6	129,561,188 (GRCm39)	missense	probably benign	0.27
R6845:Klre1	UTSW	6	129,561,202 (GRCm39)	missense	probably damaging	0.98
R7141:Klre1	UTSW	6	129,560,129 (GRCm39)	missense	probably damaging	1.00
R7593:Klre1	UTSW	6	129,560,150 (GRCm39)	missense	probably damaging	1.00
R8108:Klre1	UTSW	6	129,561,185 (GRCm39)	missense	probably benign	0.05
R8393:Klre1	UTSW	6	129,557,025 (GRCm39)	missense	probably damaging	0.98
R8401:Klre1	UTSW	6	129,556,989 (GRCm39)	missense	probably benign	0.02
R9456:Klre1	UTSW	6	129,559,368 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- CTTCTCCTGATGGCTGTAGC -3'
(R):5'- TGCAACAAGGCTGGGAAATC -3'

Sequencing Primer
(F):5'- CTGTAGCCATGGTGATGACC -3'
(R):5'- TGGGAAATCAACACCTACCTTCTTG -3'

Posted On

2018-07-24