Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01678:Klrb1a'

103721

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klrb1a

Ensembl Gene

ENSMUSG00000030361

Gene Name

killer cell lectin-like receptor subfamily B member 1A

Synonyms

Ly55a, Nkrp1-a, NKR-P1A

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01678

Quality Score

Status

Chromosome

Chromosomal Location

128586190-128599897 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 128595411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032512] [ENSMUST00000171306] [ENSMUST00000203150] [ENSMUST00000203275] [ENSMUST00000204819]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032512

SMART Domains

Protein: ENSMUSP00000032512
Gene: ENSMUSG00000030361

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
CLECT	100	217	1.52e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171306

SMART Domains

Protein: ENSMUSP00000132390
Gene: ENSMUSG00000030361

Domain	Start	End	E-Value	Type
CLECT	67	184	1.52e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203150

SMART Domains

Protein: ENSMUSP00000144707
Gene: ENSMUSG00000030361

Domain	Start	End	E-Value	Type
transmembrane domain	51	73	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203275

SMART Domains

Protein: ENSMUSP00000145086
Gene: ENSMUSG00000030361

Domain	Start	End	E-Value	Type
transmembrane domain	39	61	N/A	INTRINSIC
CLECT	88	205	7.6e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204819

SMART Domains

Protein: ENSMUSP00000145519
Gene: ENSMUSG00000030361

Domain	Start	End	E-Value	Type
transmembrane domain	45	67	N/A	INTRINSIC
CLECT	97	214	7.6e-27	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,443 (GRCm39)	M236K	probably benign	Het
Abcc1	T	A	16: 14,222,883 (GRCm39)	M186K	probably null	Het
Adamts3	T	C	5: 89,855,715 (GRCm39)	N385S	probably damaging	Het
Adamts6	T	C	13: 104,450,196 (GRCm39)	V299A	probably damaging	Het
Angel1	T	C	12: 86,763,800 (GRCm39)	E500G	probably benign	Het
Car9	T	C	4: 43,512,941 (GRCm39)		probably benign	Het
Colec11	A	G	12: 28,644,867 (GRCm39)	F209S	probably damaging	Het
Dnaaf10	T	C	11: 17,182,790 (GRCm39)	V317A	probably benign	Het
Dock10	A	G	1: 80,521,069 (GRCm39)	Y1179H	probably damaging	Het
Ece1	T	A	4: 137,690,044 (GRCm39)	W697R	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Flii	G	T	11: 60,607,672 (GRCm39)		probably benign	Het
Frmpd1	T	A	4: 45,243,717 (GRCm39)	D63E	probably damaging	Het
Ftmt	A	T	18: 52,465,206 (GRCm39)	H174L	probably damaging	Het
Gpr37l1	A	G	1: 135,094,791 (GRCm39)	V151A	probably damaging	Het
Inppl1	T	C	7: 101,481,803 (GRCm39)	T180A	probably benign	Het
Klhdc4	T	C	8: 122,523,677 (GRCm39)	D513G	possibly damaging	Het
Nit1	A	G	1: 171,170,262 (GRCm39)	V270A	probably damaging	Het
Or6c5	A	C	10: 129,074,537 (GRCm39)	D173A	possibly damaging	Het
Phox2b	T	A	5: 67,256,262 (GRCm39)	Y8F	probably damaging	Het
Psg20	T	A	7: 18,414,795 (GRCm39)	S364C	probably damaging	Het
Rab38	T	A	7: 88,079,740 (GRCm39)	V44E	probably damaging	Het
Rapgef4	T	C	2: 72,072,569 (GRCm39)		probably benign	Het
Ror1	C	T	4: 100,283,165 (GRCm39)	P410L	possibly damaging	Het
Rptn	A	G	3: 93,304,118 (GRCm39)	N484D	probably benign	Het
Sirpb1a	G	T	3: 15,476,370 (GRCm39)	S142R	probably damaging	Het
Smox	G	A	2: 131,353,979 (GRCm39)	R17H	possibly damaging	Het
Top6bl	T	A	19: 4,722,193 (GRCm39)	I76L	possibly damaging	Het
Trpm7	A	T	2: 126,658,719 (GRCm39)	C1146S	probably damaging	Het
Upf3a	C	T	8: 13,841,930 (GRCm39)	A155V	probably benign	Het
Vmn1r212	A	T	13: 23,068,081 (GRCm39)	V84D	probably damaging	Het
Vmn2r40	T	C	7: 8,923,105 (GRCm39)	N419D	probably damaging	Het
Zfp143	C	A	7: 109,679,558 (GRCm39)		probably benign	Het
Zmat4	T	A	8: 24,392,064 (GRCm39)	C7S	probably damaging	Het

Other mutations in Klrb1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Klrb1a	APN	6	128,595,008 (GRCm39)	splice site	probably benign
IGL01976:Klrb1a	APN	6	128,595,072 (GRCm39)	missense	probably benign	0.36
R0387:Klrb1a	UTSW	6	128,586,697 (GRCm39)	missense	possibly damaging	0.79
R1348:Klrb1a	UTSW	6	128,586,797 (GRCm39)	missense	possibly damaging	0.79
R3709:Klrb1a	UTSW	6	128,595,466 (GRCm39)	missense	probably benign	0.00
R5253:Klrb1a	UTSW	6	128,596,126 (GRCm39)	missense	probably benign	0.00
R5541:Klrb1a	UTSW	6	128,586,699 (GRCm39)	missense	probably benign	0.01
R5630:Klrb1a	UTSW	6	128,595,573 (GRCm39)	missense	probably benign	0.01
R5913:Klrb1a	UTSW	6	128,595,472 (GRCm39)	missense	probably damaging	0.99
R6248:Klrb1a	UTSW	6	128,596,137 (GRCm39)	missense	probably damaging	1.00
R7248:Klrb1a	UTSW	6	128,586,697 (GRCm39)	missense	possibly damaging	0.52
R9555:Klrb1a	UTSW	6	128,595,427 (GRCm39)	missense	probably damaging	1.00
R9648:Klrb1a	UTSW	6	128,586,816 (GRCm39)	critical splice acceptor site	probably null
R9716:Klrb1a	UTSW	6	128,597,239 (GRCm39)	missense	probably benign	0.00
Z1176:Klrb1a	UTSW	6	128,595,548 (GRCm39)	frame shift	probably null

Posted On

2014-01-21