Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03278:Lrguk'

415474

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: 0.092) question?

Stock #

IGL03278

Quality Score

Status

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34116446 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 634 (E634G)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070189
AA Change: E634G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: E634G

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,158,825		probably benign	Het
Acss2	A	G	2: 155,562,001	D676G	possibly damaging	Het
Antxr1	A	G	6: 87,204,457		probably benign	Het
Ccdc134	C	T	15: 82,131,481	A54V	possibly damaging	Het
Ccdc40	A	T	11: 119,242,510	I465F	probably damaging	Het
Cdk5rap1	A	T	2: 154,370,702	S79T	probably benign	Het
Col6a6	T	C	9: 105,709,452	E1790G	probably benign	Het
Cops8	C	A	1: 90,604,365		probably null	Het
Dnah7a	T	C	1: 53,496,965	T2640A	probably benign	Het
F2	G	A	2: 91,635,182	A86V	probably benign	Het
Fam160a2	C	A	7: 105,385,124	M433I	possibly damaging	Het
Gabrb1	T	G	5: 71,869,596	D113E	probably damaging	Het
Git2	C	A	5: 114,745,579		probably benign	Het
Git2	A	T	5: 114,745,580		probably null	Het
Gm4847	A	T	1: 166,635,036	I295N	probably benign	Het
H2-M10.6	C	A	17: 36,813,823	H211N	probably damaging	Het
Hmgcr	A	G	13: 96,656,762		probably benign	Het
Larp1	T	C	11: 58,044,056		probably benign	Het
Nanog	A	G	6: 122,711,745	Y95C	probably damaging	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Nfe2l1	C	A	11: 96,822,192	R55L	probably benign	Het
Olfr161	C	T	16: 3,593,107	A237V	possibly damaging	Het
Pkmyt1	A	G	17: 23,734,247	E259G	probably damaging	Het
Pld4	A	G	12: 112,766,731	N247S	probably damaging	Het
Prdm4	A	T	10: 85,907,758	M211K	probably damaging	Het
Rab37	A	C	11: 115,159,691	I121L	possibly damaging	Het
Rabl6	T	C	2: 25,583,822		probably benign	Het
Slc34a3	A	T	2: 25,232,047	V154E	probably benign	Het
Slc38a9	T	G	13: 112,689,518		probably benign	Het
Sptlc3	G	A	2: 139,589,659	G367D	probably damaging	Het
Stk24	T	C	14: 121,302,770	K139R	possibly damaging	Het
Tacc2	T	C	7: 130,733,568		probably null	Het
Tap1	A	T	17: 34,191,483	K378M	probably damaging	Het
Tfr2	A	T	5: 137,571,036	R10*	probably null	Het
Trim38	A	G	13: 23,790,996	D306G	possibly damaging	Het
Ttc6	A	T	12: 57,622,026	K418I	probably damaging	Het
Ush2a	T	A	1: 188,849,116	L3731Q	probably damaging	Het
Vmn2r89	A	T	14: 51,455,100	Y120F	probably damaging	Het
Vps35	A	T	8: 85,294,961		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
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
X0057:Lrguk	UTSW	6	34078747	missense	probably benign	0.40

Posted On

2016-08-02