Mutagenetix > Incidental Mutation

Incidental Mutation 'R8401:Klre1'

652188

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

067877-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8401 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129554868-129562790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129556989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 30 (N30K)

Ref Sequence

ENSEMBL: ENSMUSP00000055779 (fasta)

Gene Model

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

AlphaFold

Q8CJC7

Predicted Effect

probably benign
Transcript: ENSMUST00000053708
AA Change: N30K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000055779
Gene: ENSMUSG00000050241
AA Change: N30K

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
AA Change: N30K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000145085
Gene: ENSMUSG00000050241
AA Change: N30K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	T	C	14: 31,467,251 (GRCm39)	Y207C	probably damaging	Het
Ano8	T	C	8: 71,936,011 (GRCm39)	D235G	probably damaging	Het
Atp2b4	T	A	1: 133,659,574 (GRCm39)	I463F	probably damaging	Het
Brca2	T	A	5: 150,475,817 (GRCm39)	I2509N	probably damaging	Het
Brinp3	T	C	1: 146,777,184 (GRCm39)	S544P	probably benign	Het
Chd1	A	G	17: 15,963,473 (GRCm39)	Y824C	probably damaging	Het
Dapk1	T	C	13: 60,870,904 (GRCm39)	V330A	probably benign	Het
Dct	T	C	14: 118,280,615 (GRCm39)	T134A	possibly damaging	Het
Ddx56	T	C	11: 6,214,199 (GRCm39)	D350G	probably damaging	Het
Ddx60	C	T	8: 62,409,277 (GRCm39)	L438F	possibly damaging	Het
Dnah17	T	A	11: 117,915,485 (GRCm39)	K4378M	probably damaging	Het
Drc7	C	T	8: 95,800,763 (GRCm39)	S595F	probably benign	Het
Epb41	C	T	4: 131,702,018 (GRCm39)	R539Q	probably damaging	Het
Foxred2	T	C	15: 77,836,191 (GRCm39)	I389V	probably damaging	Het
Gan	C	A	8: 117,910,242 (GRCm39)	T57K	possibly damaging	Het
Glra3	T	C	8: 56,542,124 (GRCm39)	V289A	probably damaging	Het
Grk1	T	C	8: 13,457,846 (GRCm39)	F249L	probably damaging	Het
Grk6	G	A	13: 55,599,981 (GRCm39)	A258T	possibly damaging	Het
Hars1	T	C	18: 36,904,243 (GRCm39)	N212S	possibly damaging	Het
Ikzf2	C	A	1: 69,578,254 (GRCm39)	Q418H	probably damaging	Het
Ikzf2	T	G	1: 69,578,255 (GRCm39)	Q418P	probably damaging	Het
Lama5	G	T	2: 179,840,580 (GRCm39)	D606E	probably damaging	Het
Lca5l	T	C	16: 95,963,760 (GRCm39)	K393R	probably damaging	Het
Lmbrd2	A	T	15: 9,156,294 (GRCm39)	I124F	possibly damaging	Het
Loxhd1	C	A	18: 77,468,156 (GRCm39)	P935T	probably damaging	Het
Nes	T	C	3: 87,885,388 (GRCm39)	S1216P	possibly damaging	Het
Nim1k	A	G	13: 120,174,213 (GRCm39)	L227P	probably damaging	Het
Nkx2-1	C	A	12: 56,579,841 (GRCm39)	L366F	probably damaging	Het
Nol6	C	A	4: 41,119,548 (GRCm39)	R586L	possibly damaging	Het
Ogdh	T	A	11: 6,247,174 (GRCm39)	L66*	probably null	Het
Or2b28	A	T	13: 21,531,997 (GRCm39)	I300L	probably benign	Het
Orm3	A	G	4: 63,274,467 (GRCm39)	S11G	possibly damaging	Het
Pkn3	C	A	2: 29,970,071 (GRCm39)	S126R	probably benign	Het
Pnpla8	T	A	12: 44,335,091 (GRCm39)	D442E	probably damaging	Het
Pop1	A	T	15: 34,508,755 (GRCm39)	T277S	probably damaging	Het
Prkag2	T	C	5: 25,068,868 (GRCm39)	T563A	probably benign	Het
Prkdc	T	A	16: 15,591,477 (GRCm39)	F2652I	possibly damaging	Het
Prok1	A	G	3: 107,144,513 (GRCm39)	I30T	probably benign	Het
Prr9	T	G	3: 92,030,356 (GRCm39)	T95P	possibly damaging	Het
Ptgds	A	G	2: 25,359,669 (GRCm39)	M6T	unknown	Het
Rnaseh2b	T	A	14: 62,607,938 (GRCm39)	D250E	probably benign	Het
Rundc1	C	T	11: 101,324,383 (GRCm39)	T363M	probably damaging	Het
Ryr2	T	A	13: 11,683,821 (GRCm39)	H3081L	possibly damaging	Het
Setmar	T	C	6: 108,053,124 (GRCm39)	I206T	probably benign	Het
Skic8	A	T	9: 54,635,539 (GRCm39)	S21T	probably benign	Het
Slitrk6	A	G	14: 110,989,453 (GRCm39)	S85P	possibly damaging	Het
Spi1	A	G	2: 90,943,650 (GRCm39)	N65D	probably benign	Het
Stx1b	A	T	7: 127,406,945 (GRCm39)		probably benign	Het
Trav5-4	G	A	14: 53,941,750 (GRCm39)	S41N	probably benign	Het
Tspan14	T	C	14: 40,630,049 (GRCm39)	D260G	probably benign	Het
Ube4a	T	C	9: 44,852,527 (GRCm39)	D645G	possibly damaging	Het
Ush2a	C	T	1: 188,275,062 (GRCm39)	T1845I	probably benign	Het
Vps18	T	C	2: 119,127,973 (GRCm39)	L932P	probably damaging	Het
Zfp62	T	A	11: 49,108,218 (GRCm39)	C770S	probably damaging	Het
Zfp672	T	C	11: 58,207,628 (GRCm39)	K231R	probably benign	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
R6713:Klre1	UTSW	6	129,559,229 (GRCm39)	splice site	probably null
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
R9456:Klre1	UTSW	6	129,559,368 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GTCTATTCCTCAACGCAAAAGC -3'
(R):5'- GCAAGCAATGTATATCCCTAGTATC -3'

Sequencing Primer
(F):5'- TCCTCAACGCAAAAGCTTTTAG -3'
(R):5'- TCTAACAAAACTTGACCTTAACCTG -3'

Posted On

2020-10-20