Mutagenetix > Incidental Mutation

Incidental Mutation 'R6290:Klrh1'

508362

Institutional Source

Beutler Lab

Gene Symbol

Klrh1

Ensembl Gene

ENSMUSG00000071158

Gene Name

killer cell lectin-like receptor subfamily H, member 1

Synonyms

LOC232415, Gm156

MMRRC Submission

044460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R6290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129743531-129761233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129743658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 209 (Y209H)

Ref Sequence

ENSEMBL: ENSMUSP00000093058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095409] [ENSMUST00000118532]

AlphaFold

Q58A37

Predicted Effect

probably benign
Transcript: ENSMUST00000095409
AA Change: Y209H

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000093058
Gene: ENSMUSG00000071158
AA Change: Y209H

Domain	Start	End	E-Value	Type
low complexity region	10	28	N/A	INTRINSIC
transmembrane domain	36	58	N/A	INTRINSIC
CLECT	100	215	2.91e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118532

SMART Domains

Protein: ENSMUSP00000113766
Gene: ENSMUSG00000071158

Domain	Start	End	E-Value	Type
low complexity region	10	28	N/A	INTRINSIC
transmembrane domain	36	58	N/A	INTRINSIC
CLECT	100	178	1.85e-2	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	T	A	1: 173,289,681 (GRCm39)	I208N	possibly damaging	Het
Albfm1	T	C	5: 90,740,864 (GRCm39)		probably null	Het
Ank3	A	C	10: 69,827,198 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,259,036 (GRCm39)	E687G	possibly damaging	Het
Ash1l	T	A	3: 88,890,068 (GRCm39)	L649*	probably null	Het
Atp7b	C	T	8: 22,510,836 (GRCm39)	G437S	probably damaging	Het
Cep89	G	A	7: 35,119,688 (GRCm39)	G349D	probably damaging	Het
Cntn6	T	A	6: 104,744,851 (GRCm39)	Y315N	probably damaging	Het
Cspg4b	A	T	13: 113,456,492 (GRCm39)	N846I	probably damaging	Het
Csrp2	T	C	10: 110,767,844 (GRCm39)	C10R	probably damaging	Het
Cux1	T	C	5: 136,340,412 (GRCm39)	N625D	probably damaging	Het
Dnah9	T	C	11: 65,732,201 (GRCm39)	N4235S	probably damaging	Het
Dpy19l1	A	G	9: 24,373,896 (GRCm39)	C265R	probably damaging	Het
Dse	A	G	10: 34,028,336 (GRCm39)	M918T	probably benign	Het
Duox1	C	A	2: 122,164,288 (GRCm39)	T916N	possibly damaging	Het
E130308A19Rik	A	T	4: 59,691,332 (GRCm39)	I389F	probably benign	Het
Eif2ak1	T	A	5: 143,821,617 (GRCm39)	V311D	probably benign	Het
Eps15	T	A	4: 109,220,395 (GRCm39)	M534K	probably benign	Het
Gpr182	A	T	10: 127,586,893 (GRCm39)	F19L	probably benign	Het
Ifi214	T	A	1: 173,356,983 (GRCm39)	D40V	probably damaging	Het
Klhl2	A	G	8: 65,264,351 (GRCm39)	V121A	possibly damaging	Het
Mylk	T	A	16: 34,715,213 (GRCm39)	S514T	probably benign	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naga	T	G	15: 82,219,057 (GRCm39)	D230A	possibly damaging	Het
Napsa	A	G	7: 44,230,761 (GRCm39)	N70D	probably benign	Het
Nup210l	T	A	3: 90,027,216 (GRCm39)	Y199*	probably null	Het
Olfml2b	A	T	1: 170,477,359 (GRCm39)	K165*	probably null	Het
Or1j20	C	T	2: 36,760,448 (GRCm39)	P290L	probably damaging	Het
Paxip1	A	T	5: 27,970,576 (GRCm39)		probably null	Het
Pcyox1	T	A	6: 86,365,881 (GRCm39)	K444N	probably benign	Het
Pikfyve	T	A	1: 65,242,084 (GRCm39)		probably null	Het
Ppp6r3	T	C	19: 3,544,011 (GRCm39)	I335V	probably benign	Het
Prkcz	A	G	4: 155,440,956 (GRCm39)	S71P	probably damaging	Het
Psg19	C	T	7: 18,528,014 (GRCm39)	R243Q	probably benign	Het
Ptbp2	A	T	3: 119,517,769 (GRCm39)	M382K	possibly damaging	Het
Slc16a14	T	A	1: 84,885,106 (GRCm39)	I478L	probably benign	Het
Slc45a1	A	T	4: 150,727,096 (GRCm39)	N174K	probably damaging	Het
Slc5a5	G	A	8: 71,343,822 (GRCm39)	T160I	probably damaging	Het
Smpdl3b	T	A	4: 132,465,586 (GRCm39)	H278L	possibly damaging	Het
Sorcs2	C	T	5: 36,219,931 (GRCm39)	R371H	probably damaging	Het
Synpo2	A	T	3: 122,910,701 (GRCm39)	S315T	probably damaging	Het
Taok3	A	G	5: 117,342,433 (GRCm39)	Y137C	probably damaging	Het
Tapbpl	T	C	6: 125,207,679 (GRCm39)	D49G	probably benign	Het
Tbr1	T	C	2: 61,635,394 (GRCm39)	S115P	probably benign	Het
Trim67	C	T	8: 125,549,918 (GRCm39)	T516I	probably benign	Het
Trrap	T	A	5: 144,741,828 (GRCm39)	L1351Q	probably damaging	Het
Tsc2	A	G	17: 24,815,884 (GRCm39)	I166T	probably benign	Het
Tspan8	T	A	10: 115,663,729 (GRCm39)	C22S	probably damaging	Het
Tyro3	T	C	2: 119,647,321 (GRCm39)	S813P	probably benign	Het
U2af2	G	T	7: 5,078,683 (GRCm39)	V421L	probably benign	Het
Vmn1r77	T	C	7: 11,775,736 (GRCm39)	S103P	probably damaging	Het
Vmn2r1	T	A	3: 64,012,873 (GRCm39)	D911E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r56	A	T	7: 12,428,809 (GRCm39)	C486S	probably damaging	Het
Vwa8	A	G	14: 79,331,772 (GRCm39)		probably null	Het
Xirp1	T	G	9: 119,847,791 (GRCm39)	E364A	probably benign	Het
Zbp1	T	C	2: 173,057,634 (GRCm39)	E99G	probably damaging	Het
Zfp385b	C	A	2: 77,280,612 (GRCm39)	V109F	possibly damaging	Het

Other mutations in Klrh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0844:Klrh1	UTSW	6	129,752,756 (GRCm39)	missense	possibly damaging	0.92
R1498:Klrh1	UTSW	6	129,748,703 (GRCm39)	missense	probably damaging	0.98
R1581:Klrh1	UTSW	6	129,752,796 (GRCm39)	missense	probably benign	0.01
R1866:Klrh1	UTSW	6	129,752,343 (GRCm39)	critical splice donor site	probably null
R1967:Klrh1	UTSW	6	129,752,798 (GRCm39)	missense	possibly damaging	0.83
R2289:Klrh1	UTSW	6	129,745,140 (GRCm39)	missense	probably null	0.04
R2384:Klrh1	UTSW	6	129,749,343 (GRCm39)	missense	probably benign
R5192:Klrh1	UTSW	6	129,748,721 (GRCm39)	missense	probably benign	0.15
R5199:Klrh1	UTSW	6	129,752,781 (GRCm39)	missense	possibly damaging	0.68
R6124:Klrh1	UTSW	6	129,745,098 (GRCm39)	missense	probably benign	0.05
R7084:Klrh1	UTSW	6	129,743,673 (GRCm39)	missense	possibly damaging	0.51
R7472:Klrh1	UTSW	6	129,752,345 (GRCm39)	missense	probably benign	0.09
R7546:Klrh1	UTSW	6	129,749,343 (GRCm39)	missense	probably benign	0.00
R8077:Klrh1	UTSW	6	129,743,658 (GRCm39)	missense	probably benign	0.01
R8246:Klrh1	UTSW	6	129,752,339 (GRCm39)	splice site	probably benign
R8924:Klrh1	UTSW	6	129,745,084 (GRCm39)	missense	probably benign	0.01
R9057:Klrh1	UTSW	6	129,752,803 (GRCm39)	start codon destroyed	probably benign	0.09
R9112:Klrh1	UTSW	6	129,743,697 (GRCm39)	missense	probably benign	0.31
R9713:Klrh1	UTSW	6	129,752,359 (GRCm39)	missense	possibly damaging	0.88
X0026:Klrh1	UTSW	6	129,745,125 (GRCm39)	missense	probably damaging	1.00
Z1088:Klrh1	UTSW	6	129,749,426 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CACTTGCTTCAGGAGAATAAGGC -3'
(R):5'- CAGAGAGTTGTAGTGTCCACTG -3'

Sequencing Primer
(F):5'- AGGAGAATAAGGCTTCATAAATCATG -3'
(R):5'- GAGTTGTAGTGTCCACTGAAATAAAC -3'

Posted On

2018-03-15