Mutagenetix > Incidental Mutations

Incidental Mutation 'R8399:Klra17'

647761

Institutional Source

Beutler Lab

Gene Symbol

Klra17

Ensembl Gene

ENSMUSG00000014543

Gene Name

killer cell lectin-like receptor, subfamily A, member 17

Synonyms

Ly49q1, Ly-49Q, Ly49Q

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129831154-129876672 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 129874937 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014687] [ENSMUST00000122219]

Predicted Effect

probably benign
Transcript: ENSMUST00000014687

SMART Domains

Protein: ENSMUSP00000014687
Gene: ENSMUSG00000014543

Domain	Start	End	E-Value	Type
low complexity region	52	69	N/A	INTRINSIC
Blast:CLECT	73	126	2e-12	BLAST
CLECT	144	259	1.5e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122219

SMART Domains

Protein: ENSMUSP00000114108
Gene: ENSMUSG00000014543

Domain	Start	End	E-Value	Type
low complexity region	53	70	N/A	INTRINSIC
Blast:CLECT	74	127	2e-12	BLAST
CLECT	145	260	1.5e-14	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-in allele exhibit reduced plasmacytoid dendritic cell number and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,489,170	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,268,998	T35N	probably benign	Het
Bcl6	T	C	16: 23,972,948	M219V	probably benign	Het
Bco2	T	A	9: 50,541,118	T217S	probably benign	Het
C1s1	C	T	6: 124,535,293	V277I	probably benign	Het
Ccdc162	T	A	10: 41,539,521	R2149W	probably damaging	Het
Cers6	T	C	2: 68,861,771	F46L	probably benign	Het
Chpf	T	C	1: 75,476,220	I359V	probably benign	Het
Chrnb4	A	C	9: 55,043,823	L52R	probably benign	Het
Cox6a1	T	C	5: 115,345,899	T95A	probably damaging	Het
Def8	T	A	8: 123,455,499	Y197*	probably null	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dnaaf3	C	T	7: 4,523,937		probably null	Het
Dnm1l	T	A	16: 16,321,672	H484L	probably damaging	Het
Eml1	G	A	12: 108,538,131	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,572,433	S367P	probably damaging	Het
Hck	A	C	2: 153,138,317	K355N	probably damaging	Het
Hexim2	G	T	11: 103,138,503	R127L	probably damaging	Het
Hivep2	T	C	10: 14,132,434	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,443,375	G305E	probably damaging	Het
Ifi207	G	A	1: 173,730,278	S298L	unknown	Het
Ighv1-11	A	G	12: 114,612,427	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,896,912	T12I	unknown	Het
Kctd14	T	C	7: 97,457,604	L22P	probably damaging	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Maf	T	A	8: 115,706,512	I118F	unknown	Het
Mppe1	T	C	18: 67,225,875	T341A	probably benign	Het
Mtmr2	T	A	9: 13,792,067	V186E	probably benign	Het
Nedd9	G	T	13: 41,318,474	Y176*	probably null	Het
Olfr1145	A	C	2: 87,810,224	M135L	probably damaging	Het
Olfr1238	T	C	2: 89,406,684	T132A	probably benign	Het
Omd	A	G	13: 49,589,869	I132V	possibly damaging	Het
Pcnx4	T	A	12: 72,574,211	M935K	probably benign	Het
Pecr	G	A	1: 72,267,465	T219I	probably benign	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Plcg2	T	C	8: 117,596,362	Y719H	probably damaging	Het
Plk4	C	T	3: 40,808,830	R479*	probably null	Het
Pms1	T	A	1: 53,267,932		probably null	Het
Raph1	C	T	1: 60,489,318	S928N	unknown	Het
Rtp4	G	T	16: 23,520,414		probably benign	Het
Skor1	C	T	9: 63,145,158	V510I	possibly damaging	Het
Smg1	T	C	7: 118,190,571	T699A	unknown	Het
Tcp11l1	T	C	2: 104,685,375	D381G	probably benign	Het
Tnik	T	A	3: 28,494,010	M56K	unknown	Het
Trappc9	G	A	15: 73,052,282	R204C	probably damaging	Het
Trmt10b	A	T	4: 45,305,870	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,419,749	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,072,707	C104*	probably null	Het
Vmn2r35	A	C	7: 7,816,898	S124R	probably benign	Het
Wdr62	T	C	7: 30,258,061	E547G	probably damaging	Het
Zfp68	A	T	5: 138,607,820	D80E	probably benign	Het

Other mutations in Klra17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00727:Klra17	APN	6	129831509	missense	probably benign	0.12
IGL02084:Klra17	APN	6	129831593	missense	probably damaging	1.00
IGL02995:Klra17	APN	6	129868684	critical splice donor site	probably null
IGL03238:Klra17	APN	6	129868810	missense	probably benign	0.43
R0118:Klra17	UTSW	6	129831589	missense	probably benign	0.01
R0583:Klra17	UTSW	6	129868693	missense	probably damaging	1.00
R1103:Klra17	UTSW	6	129868843	unclassified	probably benign
R1378:Klra17	UTSW	6	129865684	missense	probably damaging	0.96
R1513:Klra17	UTSW	6	129872314	missense	possibly damaging	0.61
R1817:Klra17	UTSW	6	129868718	splice site	probably null
R2262:Klra17	UTSW	6	129874794	critical splice donor site	probably null
R2446:Klra17	UTSW	6	129831514	missense	probably benign	0.02
R2484:Klra17	UTSW	6	129868757	missense	probably damaging	1.00
R3410:Klra17	UTSW	6	129874846	missense	probably damaging	0.99
R3411:Klra17	UTSW	6	129874846	missense	probably damaging	0.99
R3739:Klra17	UTSW	6	129873365	missense	probably benign	0.03
R4747:Klra17	UTSW	6	129872269	missense	probably damaging	0.97
R4956:Klra17	UTSW	6	129873316	missense	probably damaging	1.00
R5079:Klra17	UTSW	6	129872196	missense	possibly damaging	0.72
R5310:Klra17	UTSW	6	129868708	missense	probably damaging	1.00
R5366:Klra17	UTSW	6	129874895	missense	possibly damaging	0.89
R5875:Klra17	UTSW	6	129874828	missense	probably benign	0.01
R6043:Klra17	UTSW	6	129872187	critical splice donor site	probably null
R6515:Klra17	UTSW	6	129831499	missense	probably damaging	1.00
R6675:Klra17	UTSW	6	129872323	missense	probably damaging	0.99
R7201:Klra17	UTSW	6	129873343	missense	possibly damaging	0.62
R7296:Klra17	UTSW	6	129831592	missense	possibly damaging	0.95
R8141:Klra17	UTSW	6	129872329	missense	probably damaging	1.00
R8260:Klra17	UTSW	6	129831458	missense	probably damaging	0.99
R8503:Klra17	UTSW	6	129868814	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTTCATAAACAAGCCCAGATGAAC -3'
(R):5'- CCAGTGGTTCCAATTTTACCTAAAC -3'

Sequencing Primer
(F):5'- TACCTTTGTGGCCAGCTT -3'
(R):5'- CCAGTCAGGGTCATTAAGTG -3'

Posted On

2020-09-02