Mutagenetix > Incidental Mutation

Incidental Mutation 'R2993:Klrb1-ps1'

257964

Institutional Source

Beutler Lab

Gene Symbol

Klrb1-ps1

Ensembl Gene

ENSMUSG00000079295

Gene Name

killer cell lectin-like receptor subfamily B member 1, pseudogene 1

Synonyms

Nkrp1e

MMRRC Submission

040528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R2993 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129093481-129106409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129097992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 73 (K73N)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071391
AA Change: K73N

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071342
Gene: ENSMUSG00000079295
AA Change: K73N

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
CLECT	94	170	1.28e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203057

Meta Mutation Damage Score

0.1633

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (34/34)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	A	G	3: 124,372,184 (GRCm39)	W67R	probably damaging	Het
Abca16	T	C	7: 120,134,384 (GRCm39)	V1377A	probably damaging	Het
Adarb2	A	C	13: 8,763,752 (GRCm39)	I550L	probably benign	Het
Afdn	T	C	17: 14,111,262 (GRCm39)		probably null	Het
Ago1	G	T	4: 126,333,839 (GRCm39)		probably benign	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cdc7	G	A	5: 107,121,764 (GRCm39)	V226I	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cyp4a31	G	A	4: 115,427,017 (GRCm39)	V206I	probably benign	Het
Ddx47	G	T	6: 134,995,944 (GRCm39)	R120L	probably damaging	Het
Dnah7a	G	A	1: 53,542,713 (GRCm39)	L2486F	probably damaging	Het
Eif3d	A	G	15: 77,845,905 (GRCm39)	I372T	possibly damaging	Het
Eogt	A	T	6: 97,095,915 (GRCm39)		probably null	Het
Epb42	G	A	2: 120,859,525 (GRCm39)		probably benign	Het
Fbxl2	T	C	9: 113,818,484 (GRCm39)	E159G	possibly damaging	Het
Gabrb2	T	C	11: 42,488,476 (GRCm39)	V314A	probably damaging	Het
Gpr15lg	T	A	14: 36,829,402 (GRCm39)	H27L	probably benign	Het
Gtf2h3	T	C	5: 124,721,997 (GRCm39)	F32L	probably benign	Het
Gzmk	A	G	13: 113,317,011 (GRCm39)	I56T	probably damaging	Het
Katnbl1	G	T	2: 112,238,963 (GRCm39)		probably null	Het
Klhdc4	G	C	8: 122,533,320 (GRCm39)	S118*	probably null	Het
Lrp1	T	C	10: 127,446,250 (GRCm39)	D98G	probably damaging	Het
Lrrfip1	C	A	1: 91,032,956 (GRCm39)	D313E	probably damaging	Het
Misp3	A	G	8: 84,738,213 (GRCm39)	L34P	probably damaging	Het
Mmp21	C	T	7: 133,280,715 (GRCm39)	R85H	probably damaging	Het
Mrpl16	A	G	19: 11,751,895 (GRCm39)	I218M	possibly damaging	Het
Mtmr4	T	A	11: 87,495,823 (GRCm39)	V553D	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Spata31e2	A	T	1: 26,724,909 (GRCm39)	D90E	possibly damaging	Het
Vmn1r224	T	A	17: 20,639,472 (GRCm39)	S16R	probably damaging	Het
Vmn2r55	C	T	7: 12,418,882 (GRCm39)	A13T	probably damaging	Het
Zer1	A	G	2: 29,991,909 (GRCm39)	V637A	probably damaging	Het

Other mutations in Klrb1-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Klrb1-ps1	APN	6	129,093,548 (GRCm39)	missense	possibly damaging	0.91
IGL02067:Klrb1-ps1	APN	6	129,106,351 (GRCm39)	missense	probably damaging	1.00
IGL02218:Klrb1-ps1	APN	6	129,106,269 (GRCm39)	splice site	noncoding transcript
IGL02316:Klrb1-ps1	APN	6	129,093,532 (GRCm39)	exon	noncoding transcript
R0035:Klrb1-ps1	UTSW	6	129,106,306 (GRCm39)	missense	possibly damaging	0.80
R2972:Klrb1-ps1	UTSW	6	129,096,719 (GRCm39)	splice site	noncoding transcript
R5076:Klrb1-ps1	UTSW	6	129,096,751 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- CCTCAGCCCAGTTTGCTAAG -3'
(R):5'- CACTGGAAAGAGAGGCCCTTTG -3'

Sequencing Primer
(F):5'- CAGCCCAGTTTGCTAAGATTTTATTC -3'
(R):5'- GGCCCTTTGGACTTGCAAAC -3'

Posted On

2015-01-11