Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01778:Klri1'

153768

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klri1

Ensembl Gene

ENSMUSG00000067610

Gene Name

killer cell lectin-like receptor family I member 1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

129674181-129694095 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129694010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 26 (S26P)

Ref Sequence

ENSEMBL: ENSMUSP00000085362 (fasta)

Gene Model

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

AlphaFold

B2KG20

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088046
AA Change: S26P

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000085362
Gene: ENSMUSG00000067610
AA Change: S26P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,751,162 (GRCm39)	K325E	probably benign	Het
Arc	C	T	15: 74,544,204 (GRCm39)	M6I	probably benign	Het
Atp7b	A	T	8: 22,484,844 (GRCm39)	D1404E	probably benign	Het
Cdk5rap1	T	A	2: 154,207,956 (GRCm39)	N156I	probably damaging	Het
Ctsa	T	C	2: 164,676,230 (GRCm39)		probably benign	Het
Depdc1b	T	G	13: 108,498,861 (GRCm39)	N181K	probably benign	Het
Epg5	T	C	18: 78,062,489 (GRCm39)	V1994A	probably damaging	Het
Epyc	T	A	10: 97,517,099 (GRCm39)	C312*	probably null	Het
Erv3	T	A	2: 131,697,877 (GRCm39)	R161*	probably null	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,824,644 (GRCm39)	T280A	possibly damaging	Het
Gldn	A	T	9: 54,241,776 (GRCm39)		probably null	Het
Gtf3c4	G	A	2: 28,725,100 (GRCm39)	R211C	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Hsh2d	A	G	8: 72,947,351 (GRCm39)	D16G	probably damaging	Het
Klk15	T	A	7: 43,588,262 (GRCm39)	M190K	probably damaging	Het
Krt78	T	A	15: 101,859,402 (GRCm39)	D265V	probably damaging	Het
Lgr5	A	C	10: 115,298,607 (GRCm39)	I355S	probably damaging	Het
Lig3	T	A	11: 82,685,367 (GRCm39)	V595D	probably damaging	Het
Map2k6	A	C	11: 110,403,695 (GRCm39)		probably benign	Het
Mdm4	A	G	1: 132,922,285 (GRCm39)	S286P	probably benign	Het
Ncoa4-ps	T	C	12: 119,226,231 (GRCm39)		noncoding transcript	Het
Or2ak7	A	G	11: 58,575,095 (GRCm39)	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,090,448 (GRCm39)	M114K	probably damaging	Het
Rdh13	C	T	7: 4,433,388 (GRCm39)		probably null	Het
Reg3g	T	A	6: 78,443,816 (GRCm39)	I131F	probably benign	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc8a2	T	A	7: 15,892,818 (GRCm39)	F827I	probably damaging	Het
Slfn9	A	T	11: 82,878,200 (GRCm39)	C310S	probably damaging	Het
Sypl1	A	G	12: 33,025,641 (GRCm39)	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,699,098 (GRCm39)	T82S	possibly damaging	Het
Trim28	T	A	7: 12,764,629 (GRCm39)	V782D	probably damaging	Het
Ttn	G	A	2: 76,575,242 (GRCm39)	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,432,381 (GRCm39)	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,366,009 (GRCm39)	N308K	probably benign	Het
Xdh	T	C	17: 74,207,275 (GRCm39)	E986G	probably benign	Het
Zfp770	T	C	2: 114,026,719 (GRCm39)	D450G	probably damaging	Het
Zw10	T	G	9: 48,980,915 (GRCm39)	S438R	probably benign	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
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
R9199:Klri1	UTSW	6	129,674,264 (GRCm39)	makesense	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

Posted On

2014-02-04