Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03162:Klrb1b'

411444

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 #

IGL03162

Quality Score

Status

Chromosome

Chromosomal Location

128790669-128803278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128795892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 109 (Q109L)

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 damaging
Transcript: ENSMUST00000032472
AA Change: Q133L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032472
Gene: ENSMUSG00000079298
AA Change: Q133L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172887
AA Change: Q133L

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134637
Gene: ENSMUSG00000079298
AA Change: Q133L

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 damaging
Transcript: ENSMUST00000204423
AA Change: Q133L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872
AA Change: Q133L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204677
AA Change: Q133L

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872
AA Change: Q133L

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 null
Transcript: ENSMUST00000205130
AA Change: Q109L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144964
Gene: ENSMUSG00000079298
AA Change: Q109L

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	A	15: 60,791,581 (GRCm39)	D92V	probably damaging	Het
Acsl3	T	C	1: 78,676,887 (GRCm39)		probably null	Het
Adam5	T	C	8: 25,271,620 (GRCm39)	T596A	probably benign	Het
Adh6a	T	A	3: 138,034,880 (GRCm39)	Y336*	probably null	Het
Ak3	A	T	19: 29,000,236 (GRCm39)	V225D	possibly damaging	Het
Aldh1a7	T	A	19: 20,685,645 (GRCm39)	I302F	probably benign	Het
Amdhd1	T	C	10: 93,367,337 (GRCm39)		probably null	Het
Arhgef18	G	A	8: 3,491,301 (GRCm39)		probably null	Het
Caap1	A	T	4: 94,389,261 (GRCm39)		probably benign	Het
Cdhr4	G	A	9: 107,875,210 (GRCm39)	G70D	probably damaging	Het
Celsr3	T	C	9: 108,719,757 (GRCm39)	F2445S	probably damaging	Het
Cenpc1	A	G	5: 86,185,764 (GRCm39)	V249A	possibly damaging	Het
Clca3a2	C	A	3: 144,512,177 (GRCm39)	V80F	probably damaging	Het
Col6a1	T	A	10: 76,553,885 (GRCm39)		probably benign	Het
Commd10	T	A	18: 47,220,117 (GRCm39)	L198Q	probably damaging	Het
Cyp2d40	A	G	15: 82,644,243 (GRCm39)	L294P	unknown	Het
E2f6	T	A	12: 16,868,909 (GRCm39)	D77E	probably benign	Het
Elf5	T	A	2: 103,260,751 (GRCm39)	H38Q	possibly damaging	Het
Entrep1	T	G	19: 23,965,824 (GRCm39)	H225P	probably damaging	Het
Fcrl6	A	G	1: 172,425,820 (GRCm39)	V227A	probably damaging	Het
Fhip2b	G	T	14: 70,824,994 (GRCm39)	D447E	probably damaging	Het
Gabarapl2	T	A	8: 112,669,168 (GRCm39)	V42D	probably benign	Het
Gm3543	A	G	14: 41,802,022 (GRCm39)	I154T	possibly damaging	Het
Gpr150	T	A	13: 76,204,950 (GRCm39)		probably benign	Het
Gstp3	A	G	19: 4,109,255 (GRCm39)		probably benign	Het
Gzmm	C	T	10: 79,528,790 (GRCm39)	T64I	probably damaging	Het
Hs3st1	T	A	5: 39,771,792 (GRCm39)	K284*	probably null	Het
Ints7	A	G	1: 191,353,524 (GRCm39)		probably benign	Het
Itih2	A	T	2: 10,131,055 (GRCm39)	I94N	probably damaging	Het
Kif26b	A	G	1: 178,744,497 (GRCm39)	N1531S	probably benign	Het
Kif27	T	C	13: 58,459,021 (GRCm39)	S937G	probably benign	Het
Klhl2	A	G	8: 65,207,426 (GRCm39)	V311A	probably damaging	Het
Lrig2	A	G	3: 104,371,613 (GRCm39)	F697L	probably damaging	Het
Lrrc66	T	C	5: 73,764,725 (GRCm39)	R773G	probably benign	Het
Mrgpra2b	C	T	7: 47,113,815 (GRCm39)	V306I	probably benign	Het
Nipbl	T	C	15: 8,368,463 (GRCm39)	H1127R	probably benign	Het
Nr3c2	A	T	8: 77,944,213 (GRCm39)	D816V	probably damaging	Het
Ntmt2	T	A	1: 163,530,783 (GRCm39)	I219L	probably damaging	Het
Or10a3	T	C	7: 108,480,811 (GRCm39)	M1V	probably null	Het
Or5w19	A	C	2: 87,698,484 (GRCm39)	M50L	probably benign	Het
Pdxdc1	A	G	16: 13,675,281 (GRCm39)	L350P	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Pnpla7	T	C	2: 24,905,301 (GRCm39)		probably benign	Het
Ppan	T	G	9: 20,802,608 (GRCm39)	L283R	probably damaging	Het
Rbfox3	A	C	11: 118,387,257 (GRCm39)	S286A	probably benign	Het
Rbl2	A	G	8: 91,812,330 (GRCm39)	T273A	probably benign	Het
Recql4	G	T	15: 76,590,296 (GRCm39)		probably null	Het
Slc22a26	T	A	19: 7,779,466 (GRCm39)	M117L	probably benign	Het
Sult2a2	T	A	7: 13,468,822 (GRCm39)	I96K	probably damaging	Het
Tcf15	G	A	2: 151,990,626 (GRCm39)	R175H	probably benign	Het
Uggt1	A	T	1: 36,247,037 (GRCm39)	V320D	probably damaging	Het
Vmn2r102	A	G	17: 19,914,286 (GRCm39)	N617S	probably damaging	Het
Vpreb3	A	G	10: 75,785,133 (GRCm39)	Y77C	probably damaging	Het
Zbbx	A	T	3: 74,978,930 (GRCm39)		probably benign	Het
Zfand6	A	T	7: 84,283,185 (GRCm39)	S57R	probably benign	Het
Zmym2	A	G	14: 57,151,500 (GRCm39)	I462V	probably benign	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
IGL03276:Klrb1b	APN	6	128,792,168 (GRCm39)	missense	probably benign	0.21
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