Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00339:Lrguk'

6371

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: 0.095) question?

Stock #

IGL00339

Quality Score

Status

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34043429 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 36 (P36L)

Ref Sequence

ENSEMBL: ENSMUSP00000117680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070189] [ENSMUST00000101564] [ENSMUST00000141078] [ENSMUST00000228187]

AlphaFold

Q9D5S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000070189
AA Change: P171L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: P171L

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: ENSMUST00000101564
AA Change: P171L

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

SMART Domains

Protein: ENSMUSP00000099100
Gene: ENSMUSG00000056215
AA Change: P171L

Domain	Start	End	E-Value	Type
coiled coil region	75	113	N/A	INTRINSIC
Pfam:LRR_1	150	170	9e-4	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141078
AA Change: P36L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117680
Gene: ENSMUSG00000056215
AA Change: P36L

Domain	Start	End	E-Value	Type
Pfam:LRR_4	14	61	3.4e-8	PFAM
Pfam:LRR_1	15	35	6.1e-5	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000228187
AA Change: P171L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,167,119	M707V	probably benign	Het
Amz2	A	T	11: 109,434,021	I244F	probably damaging	Het
Atp4a	T	C	7: 30,713,204	C112R	possibly damaging	Het
Axin2	A	G	11: 108,923,990	T235A	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brd8	C	A	18: 34,609,883	G310*	probably null	Het
Capn11	A	T	17: 45,643,767	I148N	probably damaging	Het
Caskin2	A	G	11: 115,803,599	L392P	probably benign	Het
Cep72	C	T	13: 74,062,268		probably benign	Het
Chst11	A	G	10: 83,191,633	Y298C	possibly damaging	Het
Cyp21a1	C	T	17: 34,804,134		probably null	Het
F830045P16Rik	T	C	2: 129,460,529	D381G	probably damaging	Het
Fnip2	T	G	3: 79,515,155	H106P	probably benign	Het
Fosl1	T	A	19: 5,450,302	I83K	probably damaging	Het
Foxk2	C	T	11: 121,299,734	T567M	probably damaging	Het
Frmd4a	A	G	2: 4,594,714	N208S	probably benign	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Heatr5a	A	T	12: 51,888,901	I1634N	probably damaging	Het
Hspg2	C	T	4: 137,539,195	T1889M	probably damaging	Het
Kcnh6	C	T	11: 106,019,019	P457S	probably damaging	Het
Kcnk18	G	T	19: 59,235,070	A216S	probably benign	Het
Klhl42	A	G	6: 147,101,733	Y335C	probably damaging	Het
Mmp1b	T	A	9: 7,368,304	R443S	probably benign	Het
Ncapd3	T	C	9: 27,052,353	S501P	probably benign	Het
Neurl4	C	T	11: 69,904,587	R422W	probably damaging	Het
Nol4	T	C	18: 22,823,412	S311G	probably benign	Het
Oaf	T	C	9: 43,224,016	D155G	probably damaging	Het
Oas1g	T	A	5: 120,886,046	K67*	probably null	Het
Olfr365	T	C	2: 37,201,597	S119P	probably damaging	Het
Olfr434	T	G	6: 43,217,848	L312V	probably benign	Het
Rims2	C	A	15: 39,459,615	T735K	probably benign	Het
Sema4f	T	C	6: 82,937,174	T68A	probably benign	Het
Snx19	T	G	9: 30,429,084	V506G	possibly damaging	Het
Sp140	T	A	1: 85,641,822	C107*	probably null	Het
Sspo	G	A	6: 48,483,746		probably benign	Het
Syce1l	T	G	8: 113,649,502	L28R	probably damaging	Het
Tgm3	G	A	2: 130,038,413	V380M	probably damaging	Het
Unc5a	T	A	13: 54,995,815	V104D	possibly damaging	Het

Other mutations in Lrguk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20