Mutagenetix > Incidental Mutation

Incidental Mutation 'R0442:Klra1'

39216

Institutional Source

Beutler Lab

Gene Symbol

Klra1

Ensembl Gene

ENSMUSG00000079853

Gene Name

killer cell lectin-like receptor, subfamily A, member 1

Synonyms

Ly49A, Ly49o<129>

MMRRC Submission

038643-MU

Accession Numbers

Essential gene?

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

Stock #

R0442 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

130340881-130363837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130349835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 201 (Y201C)

Ref Sequence

ENSEMBL: ENSMUSP00000032288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032288]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032288
AA Change: Y201C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032288
Gene: ENSMUSG00000079853
AA Change: Y201C

Domain	Start	End	E-Value	Type
Blast:CLECT	73	118	9e-8	BLAST
CLECT	139	254	4.02e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127570

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.5%
10x: 93.4%
20x: 81.2%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,435,551 (GRCm39)	N816Y	probably damaging	Het
Arfgef3	T	C	10: 18,553,563 (GRCm39)		probably benign	Het
Cd200	T	A	16: 45,217,518 (GRCm39)	S58C	probably damaging	Het
Cep128	C	T	12: 91,233,545 (GRCm39)	E508K	probably damaging	Het
Dnah2	C	A	11: 69,339,368 (GRCm39)	L3046F	probably damaging	Het
Duox2	T	C	2: 122,119,813 (GRCm39)	N872D	probably benign	Het
Fam90a1a	C	T	8: 22,453,074 (GRCm39)	T143I	probably benign	Het
Fdft1	T	C	14: 63,400,798 (GRCm39)	T112A	probably benign	Het
Gimap9	G	T	6: 48,655,000 (GRCm39)	G196*	probably null	Het
Grhl1	G	A	12: 24,662,169 (GRCm39)	R536Q	probably damaging	Het
Gtpbp3	T	A	8: 71,944,135 (GRCm39)	V293E	probably damaging	Het
Hcn3	A	T	3: 89,058,847 (GRCm39)	F251Y	probably damaging	Het
Hectd4	T	A	5: 121,462,045 (GRCm39)	C971S	possibly damaging	Het
Helz2	T	A	2: 180,874,002 (GRCm39)	D2164V	probably damaging	Het
Hif1an	T	G	19: 44,554,451 (GRCm39)	L188R	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 88,023,266 (GRCm39)	P519L	probably damaging	Het
Jakmip1	T	G	5: 37,292,897 (GRCm39)		probably null	Het
Minpp1	T	C	19: 32,471,348 (GRCm39)	F299L	possibly damaging	Het
Myb	A	G	10: 21,002,095 (GRCm39)	S749P	probably benign	Het
Myo3b	T	C	2: 70,069,305 (GRCm39)		probably null	Het
Naip1	T	A	13: 100,581,024 (GRCm39)	R74S	probably benign	Het
Nt5m	A	G	11: 59,765,445 (GRCm39)	T158A	possibly damaging	Het
Obscn	A	T	11: 58,893,000 (GRCm39)		probably benign	Het
Or5af1	T	A	11: 58,722,257 (GRCm39)	Y92*	probably null	Het
Or5b119	T	G	19: 13,457,412 (GRCm39)	D50A	probably damaging	Het
Or6c210	T	C	10: 129,495,693 (GRCm39)	I6T	probably benign	Het
Otogl	T	A	10: 107,712,716 (GRCm39)	T543S	probably damaging	Het
Pds5b	T	C	5: 150,640,009 (GRCm39)		probably benign	Het
Plekhm1	A	G	11: 103,288,000 (GRCm39)	M49T	possibly damaging	Het
Rabl6	A	T	2: 25,477,534 (GRCm39)	S305R	probably damaging	Het
Rad54b	G	A	4: 11,609,480 (GRCm39)		probably benign	Het
Rad54b	C	A	4: 11,610,362 (GRCm39)	R660S	probably benign	Het
Rexo5	T	C	7: 119,442,508 (GRCm39)	L542P	probably damaging	Het
Rp1	C	T	1: 4,416,970 (GRCm39)	D1381N	probably benign	Het
Scnn1a	T	G	6: 125,316,100 (GRCm39)	M346R	probably damaging	Het
Sirpb1c	A	G	3: 15,856,710 (GRCm39)	I380T	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Sstr3	A	T	15: 78,424,597 (GRCm39)	L50Q	probably damaging	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
Sun5	T	C	2: 153,712,872 (GRCm39)	D16G	possibly damaging	Het
Svil	A	T	18: 5,046,870 (GRCm39)	T39S	probably damaging	Het
Taar1	A	G	10: 23,796,380 (GRCm39)	Y26C	possibly damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Use1	T	C	8: 71,819,702 (GRCm39)		probably benign	Het
Usp54	T	C	14: 20,657,277 (GRCm39)	Y7C	probably damaging	Het
Zbtb37	A	G	1: 160,859,918 (GRCm39)	F129S	possibly damaging	Het
Zfhx2	T	C	14: 55,304,357 (GRCm39)	H1209R	possibly damaging	Het
Zfp28	T	C	7: 6,397,998 (GRCm39)	L811P	probably damaging	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly damaging	Het

Other mutations in Klra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Klra1	APN	6	130,341,237 (GRCm39)	nonsense	probably null
IGL01320:Klra1	APN	6	130,341,224 (GRCm39)	missense	probably benign	0.02
IGL01322:Klra1	APN	6	130,341,224 (GRCm39)	missense	probably benign	0.02
IGL02149:Klra1	APN	6	130,352,293 (GRCm39)	missense	probably damaging	1.00
IGL02666:Klra1	APN	6	130,341,278 (GRCm39)	missense	probably damaging	1.00
IGL02895:Klra1	APN	6	130,352,203 (GRCm39)	missense	possibly damaging	0.51
R0004:Klra1	UTSW	6	130,349,836 (GRCm39)	missense	probably damaging	1.00
R0408:Klra1	UTSW	6	130,354,737 (GRCm39)	missense	probably benign	0.13
R0498:Klra1	UTSW	6	130,349,782 (GRCm39)	critical splice donor site	probably null
R0765:Klra1	UTSW	6	130,356,055 (GRCm39)	splice site	probably benign
R1761:Klra1	UTSW	6	130,349,836 (GRCm39)	missense	probably damaging	1.00
R1922:Klra1	UTSW	6	130,349,828 (GRCm39)	missense	probably benign	0.01
R1987:Klra1	UTSW	6	130,354,742 (GRCm39)	missense	probably benign
R2882:Klra1	UTSW	6	130,354,826 (GRCm39)	splice site	probably null
R5054:Klra1	UTSW	6	130,352,247 (GRCm39)	missense	probably damaging	0.99
R5190:Klra1	UTSW	6	130,352,241 (GRCm39)	missense	probably damaging	1.00
R5572:Klra1	UTSW	6	130,349,802 (GRCm39)	missense	possibly damaging	0.73
R5825:Klra1	UTSW	6	130,357,592 (GRCm39)	missense	probably damaging	1.00
R6784:Klra1	UTSW	6	130,349,817 (GRCm39)	missense	probably benign	0.00
R8957:Klra1	UTSW	6	130,357,609 (GRCm39)	missense	possibly damaging	0.89
R9154:Klra1	UTSW	6	130,357,607 (GRCm39)	missense
Z1176:Klra1	UTSW	6	130,349,814 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCACACTGTGTCTTATGCAACTTGACC -3'
(R):5'- TCGAGCCATGAACCCAGTATCTCAG -3'

Sequencing Primer
(F):5'- AACTTGACCTTCCCCTGAGC -3'
(R):5'- CAGTATCTCAGGACACCTGGAG -3'

Posted On

2013-05-23