Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00838:Klra5'

11670

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klra5

Ensembl Gene

ENSMUSG00000030173

Gene Name

killer cell lectin-like receptor, subfamily A, member 5

Synonyms

Ly49e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00838

Quality Score

Status

Chromosome

Chromosomal Location

129898996-129917650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 129911359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 35 (G35C)

Ref Sequence

ENSEMBL: ENSMUSP00000112795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014683] [ENSMUST00000118060] [ENSMUST00000169901]

AlphaFold

Q60652

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014683
AA Change: G35C

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000014683
Gene: ENSMUSG00000030173
AA Change: G35C

Domain	Start	End	E-Value	Type
low complexity region	56	66	N/A	INTRINSIC
Blast:CLECT	73	123	4e-9	BLAST
CLECT	143	258	3.66e-18	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118060
AA Change: G35C

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112795
Gene: ENSMUSG00000030173
AA Change: G35C

Domain	Start	End	E-Value	Type
low complexity region	56	66	N/A	INTRINSIC
Blast:CLECT	73	123	4e-9	BLAST
CLECT	143	258	3.66e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169901

SMART Domains

Protein: ENSMUSP00000126290
Gene: ENSMUSG00000030173

Domain	Start	End	E-Value	Type
CLECT	53	168	3.66e-18	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal NK and T cell morphology and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano7	C	A	1: 93,402,757	N834K	possibly damaging	Het
Armc10	T	A	5: 21,661,581	V281E	probably damaging	Het
Baat	A	T	4: 49,490,352	M244K	probably damaging	Het
Cryz	T	A	3: 154,618,475	C166S	probably damaging	Het
D430041D05Rik	T	A	2: 104,201,303	K1649N	probably damaging	Het
Dennd5b	T	C	6: 149,005,363		probably benign	Het
Dock8	A	T	19: 25,175,459	R1630*	probably null	Het
Gstm5	A	G	3: 107,897,558	N122S	probably benign	Het
Klrb1f	G	A	6: 129,054,316	V159I	possibly damaging	Het
Mgl2	A	T	11: 70,134,212	M14L	probably benign	Het
Mob1a	C	T	6: 83,338,331	R78C	possibly damaging	Het
Pigo	C	T	4: 43,021,767	A392T	possibly damaging	Het
Polr3a	A	T	14: 24,475,863	N436K	probably benign	Het
Prokr1	T	C	6: 87,588,693	T57A	possibly damaging	Het
Ror1	T	G	4: 100,333,743	V99G	probably damaging	Het
Ryr2	A	T	13: 11,568,503	I4755N	probably damaging	Het
Senp5	T	C	16: 31,989,173	D394G	probably damaging	Het
Speg	A	G	1: 75,410,390	I1318V	possibly damaging	Het
Syt6	T	A	3: 103,625,626	M357K	probably damaging	Het
Tex11	A	T	X: 100,972,118	I328N	possibly damaging	Het
Ttc37	T	C	13: 76,134,791	L744P	probably damaging	Het
Vnn1	T	C	10: 23,900,779	F343L	possibly damaging	Het
Wdr72	A	T	9: 74,155,129	E519V	probably damaging	Het

Other mutations in Klra5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Klra5	APN	6	129906605	missense	probably damaging	1.00
IGL01770:Klra5	APN	6	129906664	missense	probably damaging	1.00
IGL01978:Klra5	APN	6	129911430	missense	probably benign	0.32
IGL01998:Klra5	APN	6	129906713	nonsense	probably null
IGL02103:Klra5	APN	6	129911344	splice site	probably null
IGL02995:Klra5	APN	6	129906614	missense	possibly damaging	0.46
IGL03036:Klra5	APN	6	129908867	missense	probably damaging	0.99
R0314:Klra5	UTSW	6	129903590	missense	probably damaging	1.00
R0378:Klra5	UTSW	6	129906614	missense	possibly damaging	0.46
R0646:Klra5	UTSW	6	129903564	missense	probably damaging	1.00
R0731:Klra5	UTSW	6	129908796	missense	possibly damaging	0.88
R1552:Klra5	UTSW	6	129909885	missense	probably damaging	0.97
R1572:Klra5	UTSW	6	129906622	missense	probably damaging	1.00
R1807:Klra5	UTSW	6	129899420	missense	probably benign	0.00
R4451:Klra5	UTSW	6	129908834	nonsense	probably null
R4619:Klra5	UTSW	6	129908813	missense	probably benign	0.05
R4647:Klra5	UTSW	6	129899376	missense	probably damaging	0.99
R5019:Klra5	UTSW	6	129899389	missense	probably benign
R5364:Klra5	UTSW	6	129899353	missense	probably benign
R6724:Klra5	UTSW	6	129906680	missense	probably benign	0.29
R6925:Klra5	UTSW	6	129911457	missense	probably benign	0.41
R7834:Klra5	UTSW	6	129899290	critical splice donor site	probably null
R8855:Klra5	UTSW	6	129903570	missense	probably damaging	1.00
R8866:Klra5	UTSW	6	129903570	missense	probably damaging	1.00
R9144:Klra5	UTSW	6	129909948	missense	probably benign	0.16
R9145:Klra5	UTSW	6	129909948	missense	probably benign	0.16
R9148:Klra5	UTSW	6	129909948	missense	probably benign	0.16
R9440:Klra5	UTSW	6	129906723	missense	possibly damaging	0.95
R9452:Klra5	UTSW	6	129906723	missense	possibly damaging	0.95
R9453:Klra5	UTSW	6	129906723	missense	possibly damaging	0.95
R9454:Klra5	UTSW	6	129906723	missense	possibly damaging	0.95
R9469:Klra5	UTSW	6	129906723	missense	possibly damaging	0.95
R9471:Klra5	UTSW	6	129906723	missense	possibly damaging	0.95
R9615:Klra5	UTSW	6	129906723	missense	possibly damaging	0.95
R9627:Klra5	UTSW	6	129906738	missense	probably benign	0.03
Z1176:Klra5	UTSW	6	129911452	missense	not run

Posted On

2012-12-06