Mutagenetix > Incidental Mutations

Incidental Mutation 'R6802:Lrguk'

533377

Institutional Source

Beutler Lab

Gene Symbol

Lrguk

Ensembl Gene

ENSMUSG00000056215

Gene Name

leucine-rich repeats and guanylate kinase domain containing

Synonyms

4921528H16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34062457 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 301 (H301R)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070189] [ENSMUST00000228187]

Predicted Effect

probably damaging
Transcript: ENSMUST00000070189
AA Change: H301R

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

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: H301R

Domain	Start	End	E-Value	Type
coiled coil region	75	113	N/A	INTRINSIC
LRR	148	170	2.69e2	SMART
LRR	236	258	1.86e2	SMART
LRR	279	301	1.99e0	SMART
LRR	326	349	1.58e2	SMART
GuKc	414	600	6.84e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000228187
AA Change: H301R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	A	T	7: 116,099,490	K38N	probably damaging	Het
Agap3	T	A	5: 24,487,793	I408N	possibly damaging	Het
Apold1	G	A	6: 134,983,730	R49H	probably damaging	Het
Apopt1	G	T	12: 111,751,191	G162W	probably benign	Het
Arfgef1	A	T	1: 10,189,452	M597K	probably benign	Het
Bsn	C	T	9: 108,110,624		probably benign	Het
Ccdc177	A	T	12: 80,759,283	D72E	probably damaging	Het
Ctdp1	A	T	18: 80,420,441		probably null	Het
Ctsj	A	T	13: 61,003,074	L190M	probably benign	Het
Dhx57	A	G	17: 80,275,321	F285S	probably benign	Het
Dnah2	A	T	11: 69,423,690	V4051E	probably damaging	Het
F5	A	T	1: 164,179,356	D243V	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fbxo30	G	T	10: 11,291,480	G649C	probably damaging	Het
Focad	T	C	4: 88,274,203	S590P	unknown	Het
Focad	G	A	4: 88,344,684	V973I	unknown	Het
Glb1l3	T	C	9: 26,859,352		probably null	Het
Gli2	G	A	1: 118,842,065	R586C	probably damaging	Het
Gm6401	T	A	14: 41,966,917	E65V	probably damaging	Het
Gml2	T	A	15: 74,824,246	L163H	probably damaging	Het
Grm6	A	T	11: 50,853,389	Q229L	probably benign	Het
Gtf2h2	T	C	13: 100,480,543	M252V	probably benign	Het
Hsf4	G	A	8: 105,274,668	G309S	probably damaging	Het
Iglc1	T	C	16: 19,061,910		probably benign	Het
Irgq	A	G	7: 24,531,651	E89G	probably benign	Het
Kcnj6	T	C	16: 94,762,577	N354S	probably benign	Het
Mc4r	C	A	18: 66,859,417	M208I	probably benign	Het
Mrpl15	A	G	1: 4,776,730	S208P	probably benign	Het
Neil2	A	G	14: 63,191,814	F10S	probably damaging	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1054	G	T	2: 86,333,185	T57K	possibly damaging	Het
Olfr1186	A	G	2: 88,525,597	T5A	probably benign	Het
Olfr360	A	G	2: 37,068,415	M37V	probably benign	Het
Pacs1	T	C	19: 5,152,784	I357V	probably damaging	Het
Pla2g15	T	C	8: 106,150,581	L32P	probably damaging	Het
Pms1	A	T	1: 53,206,792	S529R	probably benign	Het
Prkra	A	T	2: 76,633,537	D260E	probably damaging	Het
Qsox1	A	C	1: 155,795,393	F127V	probably damaging	Het
Rabgap1l	A	T	1: 160,733,680	V161E	probably benign	Het
Robo1	T	G	16: 72,933,313	V214G	probably benign	Het
Ryr2	G	A	13: 11,686,966	A2935V	probably damaging	Het
Sgtb	A	T	13: 104,132,050	Q198L	probably benign	Het
Slc39a12	C	T	2: 14,420,085	L376F	probably benign	Het
Socs1	C	A	16: 10,784,358	V172L	probably benign	Het
Sprr2k	A	G	3: 92,433,364		probably benign	Het
Tgm1	C	T	14: 55,712,482		probably benign	Het
Tph2	A	T	10: 115,184,873	M6K	probably damaging	Het
Trav16	T	A	14: 53,743,484	C43*	probably null	Het
Ttll5	A	G	12: 85,879,386	E318G	probably damaging	Het
Vmn2r90	T	A	17: 17,712,089	I86N	probably damaging	Het
Zdhhc19	T	C	16: 32,506,358	S165P	possibly damaging	Het
Zfp352	A	T	4: 90,225,200	T526S	probably benign	Het

Other mutations in Lrguk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Lrguk	APN	6	34043429	missense	probably damaging	1.00
IGL00566:Lrguk	APN	6	34056174	missense	probably damaging	1.00
IGL01720:Lrguk	APN	6	34043477	missense	probably damaging	1.00
IGL02325:Lrguk	APN	6	34129179	missense	probably benign	0.31
IGL02484:Lrguk	APN	6	34092791	missense	probably damaging	1.00
IGL02493:Lrguk	APN	6	34129192	missense	probably benign	0.03
IGL02636:Lrguk	APN	6	34090188	missense	probably damaging	1.00
IGL03278:Lrguk	APN	6	34116446	missense	possibly damaging	0.80
R0031:Lrguk	UTSW	6	34043496	missense	probably damaging	0.99
R1069:Lrguk	UTSW	6	34048883	missense	possibly damaging	0.63
R1487:Lrguk	UTSW	6	34062360	missense	probably benign	0.01
R1568:Lrguk	UTSW	6	34086438	missense	probably damaging	1.00
R1604:Lrguk	UTSW	6	34072370	missense	possibly damaging	0.67
R1847:Lrguk	UTSW	6	34133387	missense	possibly damaging	0.52
R2045:Lrguk	UTSW	6	34071068	missense	probably damaging	1.00
R2107:Lrguk	UTSW	6	34062361	missense	probably benign	0.15
R2125:Lrguk	UTSW	6	34092902	missense	probably benign	0.05
R2136:Lrguk	UTSW	6	34043519	missense	probably benign	0.00
R2997:Lrguk	UTSW	6	34073762	missense	probably damaging	0.98
R3847:Lrguk	UTSW	6	34073768	missense	probably damaging	1.00
R3849:Lrguk	UTSW	6	34073768	missense	probably damaging	1.00
R4626:Lrguk	UTSW	6	34129223	missense	probably benign	0.00
R4718:Lrguk	UTSW	6	34029496	missense	probably benign	0.02
R4778:Lrguk	UTSW	6	34056080	missense	probably damaging	1.00
R4841:Lrguk	UTSW	6	34092867	missense	probably damaging	0.98
R5324:Lrguk	UTSW	6	34073797	missense	possibly damaging	0.87
R5450:Lrguk	UTSW	6	34071061	missense	probably damaging	1.00
R5741:Lrguk	UTSW	6	34048867	missense	probably damaging	0.99
R5939:Lrguk	UTSW	6	34078753	missense	probably damaging	1.00
R5997:Lrguk	UTSW	6	34129143	missense	probably damaging	0.99
R6786:Lrguk	UTSW	6	34095587	missense	probably benign	0.11
R7081:Lrguk	UTSW	6	34102139	missense	probably benign	0.01
R7303:Lrguk	UTSW	6	34029476	missense	probably benign	0.00
R7316:Lrguk	UTSW	6	34103256	missense	unknown
R7473:Lrguk	UTSW	6	34029695	missense	probably benign	0.01
R7543:Lrguk	UTSW	6	34048935	nonsense	probably null
R7613:Lrguk	UTSW	6	34101748	missense	possibly damaging	0.68
X0057:Lrguk	UTSW	6	34078747	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- GCCACTACAAGTTTTCTTAGCC -3'
(R):5'- ATGTCCTTGAAAAGCCAATGTG -3'

Sequencing Primer
(F):5'- ACTACAAGTTTTCTTAGCCATTGC -3'
(R):5'- GCTGGCAACCATCTGTAATG -3'

Posted On

2018-09-12