Mutagenetix > Incidental Mutation

Incidental Mutation 'R9199:Klri1'

698099

Institutional Source

Beutler Lab

Gene Symbol

Klri1

Ensembl Gene

ENSMUSG00000067610

Gene Name

killer cell lectin-like receptor family I member 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9199 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129674181-129694095 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 129674264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 249 (*249R)

Ref Sequence

ENSEMBL: ENSMUSP00000085362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088046]

AlphaFold

B2KG20

Predicted Effect

probably null
Transcript: ENSMUST00000088046
AA Change: *249R

SMART Domains

Protein: ENSMUSP00000085362
Gene: ENSMUSG00000067610
AA Change: *249R

Domain	Start	End	E-Value	Type
transmembrane domain	78	100	N/A	INTRINSIC
CLECT	132	245	3.32e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	T	16: 88,971,654 (GRCm39)		probably benign	Het
Abca9	A	T	11: 110,056,770 (GRCm39)	C17S	possibly damaging	Het
Acan	T	G	7: 78,736,057 (GRCm39)	F168V	probably damaging	Het
Acp7	A	G	7: 28,316,591 (GRCm39)	L128P	probably benign	Het
Agtpbp1	C	A	13: 59,613,808 (GRCm39)	M1044I	probably benign	Het
Arhgef3	A	G	14: 27,122,244 (GRCm39)	Q361R	possibly damaging	Het
Brdt	A	T	5: 107,498,029 (GRCm39)	R235*	probably null	Het
Cacna1d	A	G	14: 29,764,893 (GRCm39)	S2013P	probably benign	Het
Cacna2d4	T	A	6: 119,244,787 (GRCm39)	D274E	probably benign	Het
Ccdc24	T	A	4: 117,728,313 (GRCm39)	I144F	probably null	Het
Ceacam5	C	G	7: 17,479,350 (GRCm39)	L156V	probably benign	Het
Cenpn	G	A	8: 117,664,014 (GRCm39)		probably null	Het
Cfap69	A	T	5: 5,668,952 (GRCm39)	V385E	possibly damaging	Het
Cldnd1	A	G	16: 58,553,070 (GRCm39)	H177R	probably damaging	Het
Cr1l	A	T	1: 194,786,177 (GRCm39)	V439D	probably benign	Het
Cul2	A	G	18: 3,423,577 (GRCm39)	N329S	probably benign	Het
Cyp2c66	A	G	19: 39,130,800 (GRCm39)	K138R	probably benign	Het
Ddx46	G	A	13: 55,825,342 (GRCm39)	E996K	probably damaging	Het
Dnah14	A	G	1: 181,478,566 (GRCm39)	K1444E	possibly damaging	Het
Evl	G	A	12: 108,647,814 (GRCm39)		probably null	Het
Flnc	C	T	6: 29,441,490 (GRCm39)	T424I	probably benign	Het
Gadd45gip1	T	A	8: 85,559,128 (GRCm39)	V70E	probably damaging	Het
Garem2	A	G	5: 30,319,471 (GRCm39)	H311R	probably damaging	Het
Gm32742	G	C	9: 51,060,607 (GRCm39)	H899D	possibly damaging	Het
Gm5148	C	T	3: 37,768,989 (GRCm39)	C77Y	probably benign	Het
Gm5460	A	G	14: 33,758,393 (GRCm39)	D141G	possibly damaging	Het
Kcnj8	T	C	6: 142,512,118 (GRCm39)	N163S	probably damaging	Het
Kmt5b	A	G	19: 3,865,525 (GRCm39)	D863G	probably damaging	Het
Ltbp2	G	T	12: 84,832,750 (GRCm39)	T1538K	probably benign	Het
Or51ah3	G	A	7: 103,210,143 (GRCm39)	G153D	probably damaging	Het
Or5b120	A	G	19: 13,480,436 (GRCm39)	H243R	probably damaging	Het
Pheta2	A	T	15: 82,227,877 (GRCm39)	E132V	probably damaging	Het
Pramel16	A	G	4: 143,675,656 (GRCm39)	L390P	probably damaging	Het
Ptchd3	A	G	11: 121,721,741 (GRCm39)	I205V	probably benign	Het
Rab8b	G	A	9: 66,758,641 (GRCm39)	A152V	probably damaging	Het
Rasef	T	C	4: 73,658,625 (GRCm39)	D343G	possibly damaging	Het
Rcan2	G	A	17: 44,264,423 (GRCm39)	V28I	probably benign	Het
Sec1	G	A	7: 45,328,009 (GRCm39)	T346M	probably benign	Het
Sgk1	T	A	10: 21,758,558 (GRCm39)	N7K	probably damaging	Het
Slc39a12	A	T	2: 14,394,321 (GRCm39)	I64F	possibly damaging	Het
Spock3	A	G	8: 63,798,764 (GRCm39)	T259A	probably damaging	Het
Sypl1	A	T	12: 33,016,463 (GRCm39)		probably benign	Het
Teddm2	G	T	1: 153,726,767 (GRCm39)	Q36K	probably damaging	Het
Tlr1	A	G	5: 65,083,534 (GRCm39)	S348P	possibly damaging	Het
Ttll12	A	G	15: 83,466,559 (GRCm39)	F336S	probably damaging	Het
Ttll8	G	A	15: 88,798,818 (GRCm39)	P639L	probably benign	Het
Usp24	T	C	4: 106,244,681 (GRCm39)	V1212A	probably damaging	Het
Vcan	C	A	13: 89,838,615 (GRCm39)	G2310*	probably null	Het
Vmn2r104	A	T	17: 20,262,097 (GRCm39)	N344K	probably damaging	Het
Zfp281	A	G	1: 136,553,643 (GRCm39)	N207S	probably benign	Het
Zfp534	T	A	4: 147,760,439 (GRCm39)	M77L	probably benign	Het
Zfp819	G	A	7: 43,267,203 (GRCm39)	S562N	probably benign	Het
Zmym1	C	T	4: 126,944,623 (GRCm39)	C188Y	possibly damaging	Het

Other mutations in Klri1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Klri1	APN	6	129,675,800 (GRCm39)	missense	probably damaging	1.00
IGL01380:Klri1	APN	6	129,675,761 (GRCm39)	missense	probably benign	0.01
IGL01608:Klri1	APN	6	129,675,130 (GRCm39)	missense	possibly damaging	0.50
IGL01778:Klri1	APN	6	129,694,010 (GRCm39)	missense	possibly damaging	0.59
R0931:Klri1	UTSW	6	129,674,381 (GRCm39)	splice site	probably benign
R1646:Klri1	UTSW	6	129,680,299 (GRCm39)	missense	probably benign	0.00
R1649:Klri1	UTSW	6	129,675,204 (GRCm39)	missense	probably benign
R1746:Klri1	UTSW	6	129,675,118 (GRCm39)	splice site	probably null
R1960:Klri1	UTSW	6	129,674,347 (GRCm39)	missense	probably benign	0.02
R6561:Klri1	UTSW	6	129,693,964 (GRCm39)	missense	probably benign	0.03
R6773:Klri1	UTSW	6	129,680,510 (GRCm39)	missense	possibly damaging	0.67
R8169:Klri1	UTSW	6	129,694,070 (GRCm39)	missense	probably benign	0.42
R8861:Klri1	UTSW	6	129,675,164 (GRCm39)	missense	probably benign	0.03
R8907:Klri1	UTSW	6	129,680,283 (GRCm39)	missense	probably null	0.01
R9122:Klri1	UTSW	6	129,693,995 (GRCm39)	nonsense	probably null
R9438:Klri1	UTSW	6	129,675,879 (GRCm39)	missense	probably benign	0.10
X0021:Klri1	UTSW	6	129,693,874 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- ATTACACTGGGTGAGGCTGC -3'
(R):5'- AAAGCTTATCATCCACTCATGACTC -3'

Sequencing Primer
(F):5'- GAGGCTGCATCTCTGGTCTAC -3'
(R):5'- CTGTGCTTGTTTTAGCTAATTCTAAC -3'

Posted On

2022-02-07