Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01606:Klrb1'

93412

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klrb1

Ensembl Gene

ENSMUSG00000079299

Gene Name

killer cell lectin-like receptor subfamily B member 1

Synonyms

Nkrp1g, Gm4696, Ly55, Ly-55, 4930431A04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01606

Quality Score

Status

Chromosome

Chromosomal Location

128682799-128700022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 128699968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 14 (E14D)

Ref Sequence

ENSEMBL: ENSMUSP00000107738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112110]

AlphaFold

Q0ZUP1

Predicted Effect

probably benign
Transcript: ENSMUST00000112110
AA Change: E14D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107738
Gene: ENSMUSG00000079299
AA Change: E14D

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC
CLECT	91	208	8.55e-19	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: This locus encodes a NK cell specific antigen. Four RFLP patterns differing among inbred strains have been identified in reference J:12581. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	G	17: 15,164,125 (GRCm39)	D84G	probably damaging	Het
Adat3	A	T	10: 80,443,172 (GRCm39)	I337F	probably damaging	Het
Carmil3	T	A	14: 55,731,306 (GRCm39)	N128K	possibly damaging	Het
Ceacam2	T	C	7: 25,230,132 (GRCm39)	E158G	possibly damaging	Het
Cel	T	C	2: 28,450,576 (GRCm39)	I150V	probably benign	Het
Chd5	A	G	4: 152,445,432 (GRCm39)	H441R	probably damaging	Het
Clic5	G	T	17: 44,559,633 (GRCm39)	R109L	probably benign	Het
Cpd	T	C	11: 76,703,466 (GRCm39)	M466V	probably benign	Het
Cyp39a1	T	A	17: 44,057,509 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,946,767 (GRCm39)	A3106S	probably benign	Het
Fasn	A	C	11: 120,699,849 (GRCm39)		probably null	Het
Fat1	G	A	8: 45,476,086 (GRCm39)	V1688I	probably benign	Het
Fibcd1	A	G	2: 31,723,865 (GRCm39)	I258T	probably benign	Het
Frem2	C	A	3: 53,561,012 (GRCm39)	R1165I	possibly damaging	Het
Gm5627	C	T	9: 102,626,685 (GRCm39)		noncoding transcript	Het
Gm5862	T	A	5: 26,224,514 (GRCm39)	T152S	probably benign	Het
Gnb3	T	A	6: 124,814,218 (GRCm39)	D154V	probably damaging	Het
Ighv1-14	T	C	12: 114,610,457 (GRCm39)		noncoding transcript	Het
Osbpl1a	A	T	18: 12,889,271 (GRCm39)	D556E	possibly damaging	Het
Pkd1	T	C	17: 24,795,497 (GRCm39)	V2330A	probably damaging	Het
Pkdrej	T	C	15: 85,701,901 (GRCm39)	K1345R	possibly damaging	Het
Plxna4	A	G	6: 32,134,936 (GRCm39)	F1756L	probably damaging	Het
Psg28	A	C	7: 18,164,296 (GRCm39)	S139A	probably benign	Het
Ptpru	A	T	4: 131,535,792 (GRCm39)	I395N	possibly damaging	Het
Reps1	A	G	10: 17,983,435 (GRCm39)	E426G	probably damaging	Het
Rtp4	T	A	16: 23,432,004 (GRCm39)	S179T	probably benign	Het
Sh3pxd2a	C	A	19: 47,257,035 (GRCm39)	R561L	probably benign	Het
Slc29a2	T	A	19: 5,077,467 (GRCm39)	L215Q	possibly damaging	Het
Slc44a4	T	C	17: 35,147,994 (GRCm39)	F653L	probably damaging	Het
Sulf1	G	T	1: 12,906,428 (GRCm39)	R490L	possibly damaging	Het
Ttll4	T	C	1: 74,725,052 (GRCm39)	L602P	probably damaging	Het
Ttn	A	G	2: 76,607,134 (GRCm39)	V17963A	probably damaging	Het
Urb1	A	G	16: 90,557,347 (GRCm39)	S1760P	probably damaging	Het
Zmynd11	G	A	13: 9,747,724 (GRCm39)	R149W	probably damaging	Het

Other mutations in Klrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01880:Klrb1	APN	6	128,689,282 (GRCm39)	missense	possibly damaging	0.91
IGL02064:Klrb1	APN	6	128,687,600 (GRCm39)	missense	probably benign	0.01
IGL02708:Klrb1	APN	6	128,690,548 (GRCm39)	missense	probably benign	0.12
R0402:Klrb1	UTSW	6	128,687,583 (GRCm39)	missense	probably benign	0.06
R0842:Klrb1	UTSW	6	128,687,008 (GRCm39)	critical splice donor site	probably null
R1954:Klrb1	UTSW	6	128,700,036 (GRCm39)	splice site	probably null
R2267:Klrb1	UTSW	6	128,699,937 (GRCm39)	missense	probably damaging	1.00
R4191:Klrb1	UTSW	6	128,690,597 (GRCm39)	nonsense	probably null
R5518:Klrb1	UTSW	6	128,683,488 (GRCm39)	missense	probably benign	0.34
R5524:Klrb1	UTSW	6	128,689,296 (GRCm39)	critical splice acceptor site	probably null
R6967:Klrb1	UTSW	6	128,687,486 (GRCm39)	critical splice donor site	probably null
R7519:Klrb1	UTSW	6	128,689,252 (GRCm39)	missense	probably damaging	1.00
R7670:Klrb1	UTSW	6	128,687,050 (GRCm39)	missense	probably benign	0.00
R8297:Klrb1	UTSW	6	128,689,222 (GRCm39)	missense	possibly damaging	0.57
R8322:Klrb1	UTSW	6	128,690,576 (GRCm39)	missense	probably damaging	1.00
R8681:Klrb1	UTSW	6	128,687,012 (GRCm39)	missense	possibly damaging	0.49

Posted On

2013-12-09