Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Klre1'

534712

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

044951-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129554868-129562790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129561202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 188 (S188P)

Ref Sequence

ENSEMBL: ENSMUSP00000055779 (fasta)

Gene Model

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

AlphaFold

Q8CJC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000053708
AA Change: S188P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055779
Gene: ENSMUSG00000050241
AA Change: S188P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Vps33a	A	G	5: 123,673,335 (GRCm39)	V417A	probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		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
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'- GTCAACAGTTTCAAAGTCACCC -3'
(R):5'- CCATCATTTCCTGAGTAGGTAGGG -3'

Sequencing Primer
(F):5'- GTCACCCCCATAGAGCTGATGAG -3'
(R):5'- CATTGGAGAAAGCCGTTGCCTAC -3'

Posted On

2018-09-12