Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03276:Klrb1b'

415412

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klrb1b

Ensembl Gene

ENSMUSG00000079298

Gene Name

killer cell lectin-like receptor subfamily B member 1B

Synonyms

NKR-P1B, Nkrp1d, Ly55b, Klrb1d, Ly55d, Nkrp1-b, NKR-P1D

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL03276

Quality Score

Status

Chromosome

Chromosomal Location

128790669-128803278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128792168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 191 (N191S)

Ref Sequence

ENSEMBL: ENSMUSP00000144964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032472] [ENSMUST00000172887] [ENSMUST00000174544] [ENSMUST00000204394] [ENSMUST00000204423] [ENSMUST00000204677] [ENSMUST00000204756] [ENSMUST00000205130]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032472
AA Change: N215S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032472
Gene: ENSMUSG00000079298
AA Change: N215S

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	2.04e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172887

SMART Domains

Protein: ENSMUSP00000134637
Gene: ENSMUSG00000079298

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
PDB:3M9Z\|A	89	138	1e-25	PDB
SCOP:d1e87a_	94	137	2e-10	SMART
Blast:CLECT	94	138	2e-25	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000174544

SMART Domains

Protein: ENSMUSP00000134022
Gene: ENSMUSG00000079298

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
PDB:3M9Z\|A	56	97	8e-21	PDB
Blast:CLECT	61	97	1e-20	BLAST
SCOP:d1e87a_	61	97	8e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204394

SMART Domains

Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	8.5e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204423

SMART Domains

Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	8.7e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204677

SMART Domains

Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
PDB:3M9Z\|A	89	144	2e-30	PDB
SCOP:d1e87a_	94	143	2e-12	SMART
Blast:CLECT	94	144	3e-30	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000204756

SMART Domains

Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
CLECT	85	185	1e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205130
AA Change: N191S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144964
Gene: ENSMUSG00000079298
AA Change: N191S

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	75	187	1.5e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal NK cell phsyiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef25	A	C	10: 127,021,794 (GRCm39)	F202V	possibly damaging	Het
Atrnl1	A	T	19: 57,641,359 (GRCm39)	N336Y	probably damaging	Het
Bicc1	T	C	10: 70,789,268 (GRCm39)	D381G	possibly damaging	Het
Cabin1	A	T	10: 75,568,247 (GRCm39)	L912Q	probably damaging	Het
Fam83e	A	G	7: 45,372,884 (GRCm39)	D165G	possibly damaging	Het
Foxn1	T	A	11: 78,261,950 (GRCm39)	T140S	probably benign	Het
Ggt1	A	G	10: 75,416,331 (GRCm39)		probably benign	Het
Kctd8	A	T	5: 69,497,929 (GRCm39)	M239K	possibly damaging	Het
Kdm4d	A	T	9: 14,375,838 (GRCm39)	C7S	probably benign	Het
Kdm5a	T	A	6: 120,379,669 (GRCm39)		probably benign	Het
Krt35	C	T	11: 99,983,953 (GRCm39)	S349N	probably benign	Het
Krt75	A	T	15: 101,476,811 (GRCm39)	D359E	probably damaging	Het
Lipo5	T	C	19: 33,445,242 (GRCm39)	D109G	unknown	Het
Lsm12	T	G	11: 102,073,770 (GRCm39)	I58L	probably benign	Het
Mxd4	T	C	5: 34,335,088 (GRCm39)	D99G	probably benign	Het
Nlrp4a	T	A	7: 26,163,615 (GRCm39)	N927K	probably damaging	Het
Olfm2	A	G	9: 20,580,083 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,457,980 (GRCm39)	V4103A	possibly damaging	Het
Slc30a9	T	C	5: 67,507,260 (GRCm39)		probably benign	Het
Snap91	T	C	9: 86,707,065 (GRCm39)	T242A	possibly damaging	Het
Srp19	A	C	18: 34,464,843 (GRCm39)	T28P	probably damaging	Het
Tenm2	C	T	11: 35,963,603 (GRCm39)	V943I	possibly damaging	Het
Tgfb3	T	C	12: 86,104,642 (GRCm39)	E384G	probably damaging	Het
Tmem39a	T	A	16: 38,405,646 (GRCm39)	N74K	probably benign	Het
Tnfrsf11a	A	G	1: 105,749,215 (GRCm39)	Y211C	probably damaging	Het

Other mutations in Klrb1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02545:Klrb1b	APN	6	128,797,272 (GRCm39)	missense	possibly damaging	0.69
IGL02810:Klrb1b	APN	6	128,795,430 (GRCm39)	splice site	probably null
IGL02815:Klrb1b	APN	6	128,797,937 (GRCm39)	missense	probably damaging	1.00
IGL03162:Klrb1b	APN	6	128,795,892 (GRCm39)	missense	probably null	0.99
R8957:Klrb1b	UTSW	6	128,795,522 (GRCm39)	missense	probably benign	0.11
R9235:Klrb1b	UTSW	6	128,795,547 (GRCm39)	missense	probably damaging	0.99
R9244:Klrb1b	UTSW	6	128,792,245 (GRCm39)	nonsense	probably null

Posted On

2016-08-02