Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02510:Klra4'

296490

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Klra4

Ensembl Gene

ENSMUSG00000079852

Gene Name

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

Synonyms

ly49r<129>, Ly49d, Chok

Accession Numbers

Essential gene?

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

Stock #

IGL02510

Quality Score

Status

Chromosome

Chromosomal Location

130020694-130044234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130036506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 178 (I178L)

Ref Sequence

ENSEMBL: ENSMUSP00000114004 (fasta)

Gene Model

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

AlphaFold

Q60651

Predicted Effect

probably damaging
Transcript: ENSMUST00000119096
AA Change: I178L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114004
Gene: ENSMUSG00000079852
AA Change: I178L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	G	A	1: 171,078,959 (GRCm39)	S193N	probably benign	Het
Arrdc1	C	A	2: 24,825,112 (GRCm39)	V16F	probably damaging	Het
Bhmt1b	A	G	18: 87,775,653 (GRCm39)	Q392R	probably benign	Het
Bsx	A	T	9: 40,785,517 (GRCm39)	Q15L	possibly damaging	Het
Casp8ap2	A	G	4: 32,639,704 (GRCm39)	T253A	probably benign	Het
Cdkl3	T	C	11: 51,902,097 (GRCm39)	L102P	probably damaging	Het
Cgnl1	G	T	9: 71,632,639 (GRCm39)	N237K	probably benign	Het
Cldn14	T	A	16: 93,716,844 (GRCm39)	M1L	probably damaging	Het
Col1a2	C	T	6: 4,516,398 (GRCm39)	R171C	unknown	Het
Col7a1	C	A	9: 108,802,299 (GRCm39)		probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dhrs2	G	A	14: 55,473,532 (GRCm39)	V64M	probably damaging	Het
Disp3	G	A	4: 148,337,158 (GRCm39)	H886Y	probably benign	Het
Dst	G	A	1: 34,268,332 (GRCm39)		probably null	Het
Fnbp4	T	C	2: 90,581,819 (GRCm39)	V215A	probably benign	Het
Fzd9	A	G	5: 135,278,469 (GRCm39)	L472P	probably damaging	Het
Hpd	C	T	5: 123,319,973 (GRCm39)	R15Q	possibly damaging	Het
Htra2	A	G	6: 83,028,592 (GRCm39)	V412A	probably damaging	Het
Ift80	A	G	3: 68,805,876 (GRCm39)	F722S	probably benign	Het
Kcnq2	T	C	2: 180,723,154 (GRCm39)	T741A	probably benign	Het
Kl	A	C	5: 150,912,466 (GRCm39)	E738D	probably damaging	Het
Klra9	T	C	6: 130,168,185 (GRCm39)	E27G	probably benign	Het
Kntc1	T	C	5: 123,957,125 (GRCm39)	Y2145H	probably benign	Het
Mbd5	T	A	2: 49,147,041 (GRCm39)	M417K	probably benign	Het
Med31	C	T	11: 72,102,882 (GRCm39)	M75I	probably benign	Het
Mpeg1	A	T	19: 12,438,788 (GRCm39)	D82V	probably damaging	Het
Msto1	A	G	3: 88,817,652 (GRCm39)	Y439H	probably damaging	Het
Or1e17	G	A	11: 73,831,831 (GRCm39)	G253E	probably damaging	Het
Or1j15	T	C	2: 36,458,693 (GRCm39)	S28P	possibly damaging	Het
Or2av9	T	C	11: 58,381,365 (GRCm39)	Y72C	probably damaging	Het
Or5p64	T	A	7: 107,855,348 (GRCm39)		probably benign	Het
Prtg	G	A	9: 72,798,151 (GRCm39)	V706M	probably damaging	Het
Sfxn2	G	T	19: 46,576,711 (GRCm39)	A186S	probably benign	Het
Slc12a5	A	T	2: 164,824,728 (GRCm39)		probably benign	Het
Slc7a3	T	C	X: 100,126,439 (GRCm39)	E222G	probably benign	Het
Stox1	A	T	10: 62,499,826 (GRCm39)	H911Q	probably benign	Het
Sult3a2	A	T	10: 33,642,435 (GRCm39)	N289K	probably benign	Het
Supt20	A	G	3: 54,622,945 (GRCm39)		probably benign	Het
Tchh	A	G	3: 93,351,385 (GRCm39)	E275G	unknown	Het
Tectb	A	T	19: 55,179,943 (GRCm39)	N263I	probably damaging	Het
Tsga10	C	T	1: 37,800,066 (GRCm39)	R608Q	possibly damaging	Het
Ttyh3	A	G	5: 140,615,219 (GRCm39)	Y390H	probably damaging	Het
Utf1	C	A	7: 139,523,929 (GRCm39)	S48*	probably null	Het
Zfp358	G	A	8: 3,546,786 (GRCm39)	G456D	probably benign	Het
Zup1	A	G	10: 33,806,150 (GRCm39)		probably null	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
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
R8340:Klra4	UTSW	6	130,042,257 (GRCm39)	missense	probably benign	0.27
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

Posted On

2015-04-16