Mutagenetix > Incidental Mutation

Incidental Mutation 'R8340:Klra4'

644834

Institutional Source

Beutler Lab

Gene Symbol

Klra4

Ensembl Gene

ENSMUSG00000079852

Gene Name

killer cell lectin-like receptor, subfamily A, member 4

Synonyms

ly49r<129>, Ly49d, Chok

MMRRC Submission

067864-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8340 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130020694-130044234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130042257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 3 (E3D)

Ref Sequence

ENSEMBL: ENSMUSP00000114004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119096]

AlphaFold

Q60651

Predicted Effect

probably benign
Transcript: ENSMUST00000119096
AA Change: E3D

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114004
Gene: ENSMUSG00000079852
AA Change: E3D

Domain	Start	End	E-Value	Type
CLECT	140	255	1.78e-16	SMART

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	C	T	7: 81,435,839 (GRCm39)	V91M	probably damaging	Het
Actr2	A	G	11: 20,044,435 (GRCm39)	V57A	possibly damaging	Het
Aoah	A	G	13: 21,184,112 (GRCm39)	Y392C	probably damaging	Het
Armc6	T	G	8: 70,673,502 (GRCm39)	N407T	probably damaging	Het
BC024139	A	G	15: 76,005,670 (GRCm39)	V484A	probably benign	Het
Bdp1	A	G	13: 100,202,476 (GRCm39)	V716A	possibly damaging	Het
C2cd2	T	C	16: 97,670,013 (GRCm39)	E550G	probably benign	Het
Cbl	A	G	9: 44,070,297 (GRCm39)	S512P	possibly damaging	Het
Chac2	C	G	11: 30,927,511 (GRCm39)	G136A	probably damaging	Het
Crhr2	C	T	6: 55,079,831 (GRCm39)	V170M	probably damaging	Het
Cyp2c54	T	A	19: 40,060,831 (GRCm39)	D104V	possibly damaging	Het
Dhtkd1	T	A	2: 5,924,408 (GRCm39)	S402C	probably damaging	Het
Efcab3	A	G	11: 104,876,856 (GRCm39)	I4099V	unknown	Het
Etv3	A	G	3: 87,443,856 (GRCm39)	D480G	possibly damaging	Het
Fam186b	A	T	15: 99,177,595 (GRCm39)	I577K	probably benign	Het
Foxe1	T	C	4: 46,344,437 (GRCm39)	Y82H	possibly damaging	Het
Gsdma	T	A	11: 98,557,421 (GRCm39)	V120E	probably benign	Het
Insig2	A	T	1: 121,234,946 (GRCm39)	S153R	probably damaging	Het
Isx	T	A	8: 75,616,688 (GRCm39)	I105N	probably damaging	Het
Mkln1	G	T	6: 31,409,878 (GRCm39)	R172L	possibly damaging	Het
Myrf	A	T	19: 10,192,705 (GRCm39)	S605T	probably benign	Het
Nell1	T	A	7: 49,870,021 (GRCm39)	D232E	probably damaging	Het
Nemf	T	G	12: 69,400,659 (GRCm39)	T139P	possibly damaging	Het
Nrdc	A	C	4: 108,858,351 (GRCm39)	K108Q	probably damaging	Het
Or10c1	G	T	17: 37,522,075 (GRCm39)	T223N	possibly damaging	Het
Or14j3	T	C	17: 37,901,034 (GRCm39)	D70G	probably damaging	Het
Or3a10	G	T	11: 73,935,851 (GRCm39)	P83Q	probably damaging	Het
Pcnx4	T	C	12: 72,613,851 (GRCm39)	S599P	probably damaging	Het
Plscr2	A	G	9: 92,173,130 (GRCm39)	N224S	probably benign	Het
Poln	A	G	5: 34,307,118 (GRCm39)	S28P	probably damaging	Het
Prr36	A	G	8: 4,264,224 (GRCm39)	S481P	unknown	Het
Scrn1	G	A	6: 54,511,518 (GRCm39)	A74V	possibly damaging	Het
Slc22a22	T	A	15: 57,127,086 (GRCm39)		probably null	Het
Srpra	A	G	9: 35,127,102 (GRCm39)	D592G	probably damaging	Het
Tnc	T	C	4: 63,926,036 (GRCm39)	N915D	probably damaging	Het
Trpm2	T	A	10: 77,759,458 (GRCm39)	K1109*	probably null	Het
Tsks	C	T	7: 44,602,144 (GRCm39)	R287W	probably damaging	Het
Ush1c	T	G	7: 45,860,630 (GRCm39)	M456L	probably benign	Het
Usp38	A	G	8: 81,712,031 (GRCm39)	V668A	probably benign	Het
Vmn2r117	T	A	17: 23,679,511 (GRCm39)	Q571L	probably benign	Het
Vmn2r13	A	T	5: 109,322,006 (GRCm39)	D230E	probably benign	Het
Vmn2r25	C	T	6: 123,829,972 (GRCm39)	G60S	probably benign	Het
Vmn2r82	A	G	10: 79,217,036 (GRCm39)	D456G	probably benign	Het
Zfp738	A	C	13: 67,819,231 (GRCm39)	H253Q	probably damaging	Het

Other mutations in Klra4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Klra4	APN	6	130,038,985 (GRCm39)	missense	probably benign	0.18
IGL02189:Klra4	APN	6	130,021,105 (GRCm39)	missense	possibly damaging	0.68
IGL02510:Klra4	APN	6	130,036,506 (GRCm39)	missense	probably damaging	1.00
IGL02887:Klra4	APN	6	130,021,033 (GRCm39)	missense	probably damaging	1.00
R1388:Klra4	UTSW	6	130,039,198 (GRCm39)	splice site	probably benign
R1933:Klra4	UTSW	6	130,042,207 (GRCm39)	missense	possibly damaging	0.83
R3121:Klra4	UTSW	6	130,040,141 (GRCm39)	missense	probably benign	0.00
R5205:Klra4	UTSW	6	130,039,080 (GRCm39)	missense	probably damaging	0.99
R5223:Klra4	UTSW	6	130,039,110 (GRCm39)	missense	probably damaging	1.00
R5589:Klra4	UTSW	6	130,039,117 (GRCm39)	missense	probably benign	0.41
R5930:Klra4	UTSW	6	130,030,016 (GRCm39)	missense	possibly damaging	0.95
R5931:Klra4	UTSW	6	130,030,016 (GRCm39)	missense	possibly damaging	0.95
R5932:Klra4	UTSW	6	130,030,016 (GRCm39)	missense	possibly damaging	0.95
R6452:Klra4	UTSW	6	130,042,329 (GRCm39)	splice site	probably null
R6752:Klra4	UTSW	6	130,038,991 (GRCm39)	missense	probably benign	0.01
R6789:Klra4	UTSW	6	130,039,182 (GRCm39)	missense	probably damaging	1.00
R6841:Klra4	UTSW	6	130,042,162 (GRCm39)	missense	probably benign	0.01
R7255:Klra4	UTSW	6	130,036,605 (GRCm39)	missense	probably damaging	0.99
R7901:Klra4	UTSW	6	130,040,113 (GRCm39)	missense	probably damaging	1.00
R8284:Klra4	UTSW	6	130,042,243 (GRCm39)	missense	possibly damaging	0.49
R8560:Klra4	UTSW	6	130,042,235 (GRCm39)	missense	probably benign	0.05
R8832:Klra4	UTSW	6	130,021,019 (GRCm39)	missense	probably benign	0.05
R9076:Klra4	UTSW	6	130,039,107 (GRCm39)	missense	possibly damaging	0.81
R9333:Klra4	UTSW	6	130,021,080 (GRCm39)	missense	probably damaging	1.00
R9434:Klra4	UTSW	6	130,040,083 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CCTCATGCATAACTAAGGCCAG -3'
(R):5'- AGTCCATGCTGCAGTGTTTG -3'

Sequencing Primer
(F):5'- TGCATAACTAAGGCCAGATGAAATG -3'
(R):5'- CCATGCTGCAGTGTTTGGATGAC -3'

Posted On

2020-09-02