Mutagenetix > Incidental Mutation

Incidental Mutation 'R8251:Lrguk'

640236

Institutional Source

Beutler Lab

Gene Symbol

Lrguk

Ensembl Gene

ENSMUSG00000056215

Gene Name

leucine-rich repeats and guanylate kinase domain containing

Synonyms

4921528H16Rik

MMRRC Submission

067677-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R8251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34116439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 632 (T632S)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

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

AlphaFold

Q9D5S7

Predicted Effect

probably benign
Transcript: ENSMUST00000070189
AA Change: T632S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: T632S

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	T	9: 104,091,707	D463V	possibly damaging	Het
Adamtsl4	C	T	3: 95,684,574	R68Q	probably damaging	Het
Ankrd12	A	T	17: 65,984,559	M1293K	possibly damaging	Het
Arhgap21	T	C	2: 20,849,410	T1724A	probably benign	Het
C1qtnf12	T	C	4: 155,966,459	I295T	probably damaging	Het
Cacna1s	G	T	1: 136,086,723	G623W	probably damaging	Het
Cenpe	T	A	3: 135,251,684		probably null	Het
Cep85l	A	T	10: 53,281,354	I751N	probably damaging	Het
Corin	T	A	5: 72,356,926	D468V	probably damaging	Het
Ctsr	A	G	13: 61,162,778	V51A	probably damaging	Het
Dnah14	A	C	1: 181,664,865	E1630A	probably damaging	Het
Dsg4	C	A	18: 20,471,164	A896E	probably damaging	Het
Ear2	T	C	14: 44,103,020	L45P	probably benign	Het
Fshr	T	G	17: 89,200,485	D43A	probably benign	Het
Gata6	G	A	18: 11,054,670	G200S	probably benign	Het
Gnaq	T	A	19: 16,335,055	M227K	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,832	Q75R	possibly damaging	Het
Impg2	A	G	16: 56,259,597	E479G	possibly damaging	Het
Ints7	C	T	1: 191,621,433	P957L	unknown	Het
Jmjd1c	T	C	10: 67,239,289	V73A	noncoding transcript	Het
Kansl1	A	G	11: 104,424,360	I284T	probably benign	Het
Kcnj9	A	G	1: 172,326,522	S12P	probably benign	Het
Krt16	A	G	11: 100,248,370		probably null	Het
Man2b1	G	A	8: 85,095,129	V687M	probably damaging	Het
Mroh5	T	C	15: 73,783,153	E653G	probably benign	Het
Nabp1	A	T	1: 51,477,578	S44T	probably benign	Het
Nt5dc3	C	A	10: 86,820,227	H256Q	probably damaging	Het
Olfr1254	A	T	2: 89,789,223	I43N	probably damaging	Het
Olfr344	A	C	2: 36,569,455	N286H	probably damaging	Het
Olfr469	A	G	7: 107,822,569	I300T	probably damaging	Het
Pkd2	T	C	5: 104,498,487	V720A	probably benign	Het
Pnpla6	T	A	8: 3,532,399	N706K	probably benign	Het
Polr1b	C	A	2: 129,123,166	P724Q	probably damaging	Het
Rbpjl	A	G	2: 164,413,934	E366G	probably damaging	Het
Runx1t1	A	G	4: 13,846,947	T244A	possibly damaging	Het
Slitrk3	C	T	3: 73,049,396	R681H	possibly damaging	Het
Slu7	A	G	11: 43,439,301	Y185C	probably damaging	Het
Snupn	T	A	9: 56,980,853	F231L	probably damaging	Het
Srpk2	G	A	5: 23,524,268	P458S	probably benign	Het
St3gal5	T	A	6: 72,149,160	F330I	probably benign	Het
Taf3	T	C	2: 9,918,151	D878G	possibly damaging	Het
Tex44	A	G	1: 86,427,214	N282D	probably benign	Het
Tmem126a	T	C	7: 90,450,886	I150V	probably benign	Het
Tmem2	T	C	19: 21,807,401	V416A	possibly damaging	Het
Trbv21	A	G	6: 41,202,606		probably benign	Het
Vmn2r70	A	T	7: 85,565,978	L116*	probably null	Het
Vps36	A	G	8: 22,192,916	T16A	probably benign	Het
Wdr17	C	A	8: 54,657,232	G837W	probably damaging	Het
Zfp397	T	C	18: 23,960,304	V282A	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTTCCAAGTGGTTGTGCC -3'
(R):5'- GAACTATTCCGAGGGATGCG -3'

Sequencing Primer
(F):5'- TTCTGGATGCTATAGGCCAAC -3'
(R):5'- GACAGGGTCTCACTATGTAATCCCG -3'

Posted On

2020-07-28