Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02325:Lrguk'

288416

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrguk

Ensembl Gene

ENSMUSG00000056215

Gene Name

leucine-rich repeats and guanylate kinase domain containing

Synonyms

4921528H16Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL02325

Quality Score

Status

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34129179 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 713 (E713G)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

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

AlphaFold

Q9D5S7

Predicted Effect

probably benign
Transcript: ENSMUST00000070189
AA Change: E713G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: E713G

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

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
Acads	A	T	5: 115,111,954	I233N	probably damaging	Het
Agtpbp1	C	T	13: 59,500,489	G393S	probably benign	Het
Ahctf1	T	C	1: 179,776,015	D822G	probably benign	Het
Alpk1	T	C	3: 127,679,903	N817S	probably benign	Het
Aoah	G	A	13: 20,917,125	E272K	probably damaging	Het
Aoc1	A	G	6: 48,905,895	D235G	possibly damaging	Het
Ccdc186	G	T	19: 56,813,356	Q110K	probably benign	Het
Celsr2	G	T	3: 108,412,871	T875K	probably damaging	Het
Chdh	T	C	14: 30,032,825	V264A	probably benign	Het
Col15a1	A	G	4: 47,289,364	T854A	probably damaging	Het
Cuedc1	A	T	11: 88,170,173	E114V	probably null	Het
Ddx23	A	T	15: 98,647,193	D677E	possibly damaging	Het
Ddx24	A	G	12: 103,416,266	V640A	probably damaging	Het
Ddx25	T	C	9: 35,554,508		probably benign	Het
Ddx43	T	C	9: 78,402,490		probably benign	Het
Diaph1	T	C	18: 37,853,600	K1111E	probably damaging	Het
Dnah9	T	C	11: 65,834,217	D4370G	probably damaging	Het
Eef1e1	A	T	13: 38,656,036		probably benign	Het
Egfem1	T	C	3: 29,151,917	I101T	probably benign	Het
Gpr142	G	T	11: 114,806,121	L164F	probably damaging	Het
Gtf2h5	T	A	17: 6,080,831		probably null	Het
Hap1	T	A	11: 100,354,364		probably null	Het
Hemgn	T	G	4: 46,396,085	I384L	probably benign	Het
Ints3	A	T	3: 90,404,042	H419Q	probably damaging	Het
Itgb2	T	C	10: 77,547,192	L132P	probably damaging	Het
Krtap29-1	C	T	11: 99,978,333	V241M	probably damaging	Het
Lrrk2	G	T	15: 91,726,308		probably null	Het
Nlrp14	A	G	7: 107,182,316	D240G	possibly damaging	Het
Olfr1113	G	T	2: 87,213,506	G205W	probably damaging	Het
Omt2b	A	T	9: 78,328,572	T60S	possibly damaging	Het
Pcdhb2	A	G	18: 37,296,680	N569D	possibly damaging	Het
Plcd3	G	A	11: 103,080,621	R66*	probably null	Het
Polr1a	G	A	6: 71,920,657	R212Q	probably benign	Het
Pou3f2	A	T	4: 22,487,020	L371Q	probably damaging	Het
Rnf207	A	T	4: 152,311,780	I509N	probably damaging	Het
Sema5a	T	G	15: 32,686,831	S1030A	possibly damaging	Het
Shank1	C	A	7: 44,327,080	S534*	probably null	Het
Sntg2	T	C	12: 30,195,543	T495A	probably benign	Het
Spem2	A	T	11: 69,816,963	V392D	probably benign	Het
Srrm2	T	A	17: 23,810,479		probably benign	Het
Tbc1d8	A	T	1: 39,394,240	F287Y	probably damaging	Het
Tgfbi	A	G	13: 56,631,230	D422G	probably benign	Het
Tppp	G	A	13: 74,021,176	A12T	probably benign	Het
Usp46	C	T	5: 74,037,028		probably null	Het
Zdhhc12	C	T	2: 30,091,436	V205I	probably damaging	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
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
R6802:Lrguk	UTSW	6	34062457	missense	probably damaging	1.00
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
R7716:Lrguk	UTSW	6	34095539	missense	probably damaging	1.00
R7900:Lrguk	UTSW	6	34129194	missense	probably benign	0.01
R8012:Lrguk	UTSW	6	34056103	missense	probably benign	0.00
R8251:Lrguk	UTSW	6	34116439	missense	probably benign	0.00
R8324:Lrguk	UTSW	6	34102571	missense	probably benign	0.03
R8551:Lrguk	UTSW	6	34116511	missense	probably damaging	0.96
R8828:Lrguk	UTSW	6	34103637	missense	unknown
R8879:Lrguk	UTSW	6	34029683	missense	probably benign	0.00
X0057:Lrguk	UTSW	6	34078747	missense	probably benign	0.40

Posted On

2015-04-16