Mutagenetix > Incidental Mutations

Incidental Mutation 'R8551:Lrguk'

659859

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: 0.101) question?

Stock #

R8551 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34116511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 656 (S656P)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

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

AlphaFold

Q9D5S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000070189
AA Change: S656P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: S656P

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: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	G	A	7: 82,540,470	R634H	probably benign	Het
Birc6	T	G	17: 74,557,954	S236R	probably benign	Het
Dnah12	T	A	14: 26,774,270	I1493K	probably damaging	Het
Dnah7b	T	C	1: 46,116,200	S303P	possibly damaging	Het
Eri2	A	T	7: 119,787,839		probably null	Het
Erlec1	C	A	11: 30,931,829	C467F	probably damaging	Het
Exph5	A	G	9: 53,374,051	T811A	possibly damaging	Het
Galr1	T	A	18: 82,406,066	I29F	probably benign	Het
Gata3	C	A	2: 9,863,183	C320F	probably damaging	Het
Ggnbp2	A	T	11: 84,841,525	Y247*	probably null	Het
Gnao1	A	G	8: 93,956,107	Q307R	probably damaging	Het
Hbp1	T	C	12: 31,930,710	T465A	probably damaging	Het
Liph	C	G	16: 21,981,408	G152R	probably damaging	Het
Lyrm4	T	A	13: 35,979,861	N85I	probably benign	Het
Lyst	T	A	13: 13,634,060	I105N	possibly damaging	Het
Maml3	T	C	3: 51,857,067	T159A	probably benign	Het
Man1c1	A	T	4: 134,703,015	L152*	probably null	Het
Map3k20	T	G	2: 72,402,360		probably benign	Het
Mthfsl	G	T	9: 88,688,890	R102S	possibly damaging	Het
Myo3a	T	A	2: 22,332,466	S391R	probably benign	Het
Naa50	A	G	16: 44,159,633	D128G	probably benign	Het
Nlrp14	C	T	7: 107,183,152	R519C	possibly damaging	Het
Olfr1475	A	G	19: 13,479,745	I151T	possibly damaging	Het
Olfr214	G	T	6: 116,557,328	R301L	probably damaging	Het
Oxtr	T	C	6: 112,488,978	K274E	probably damaging	Het
Park2	A	G	17: 11,067,216	K32R	probably damaging	Het
Relt	T	C	7: 100,863,202		probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Ryr2	T	A	13: 11,560,593	I4840F	possibly damaging	Het
Sccpdh	T	A	1: 179,681,448	Y27N	probably damaging	Het
Slc7a5	A	G	8: 121,886,311	S343P	probably damaging	Het
Snrnp200	A	G	2: 127,227,051	D950G	probably benign	Het
Stk38	A	G	17: 28,988,225	Y115H	probably damaging	Het
Tas2r116	T	C	6: 132,856,030	V198A	probably benign	Het
Tfap2d	A	G	1: 19,104,800	D159G	probably benign	Het
Trim69	A	G	2: 122,173,329	D253G	probably benign	Het
Trpv4	A	T	5: 114,630,839	F359I	possibly damaging	Het
Twist1	C	T	12: 33,958,104	R43W	unknown	Het
Usp19	A	T	9: 108,499,297	E1026V	possibly damaging	Het
Virma	A	G	4: 11,513,397	Y417C	probably damaging	Het
Zfp735	A	G	11: 73,712,296	I689V	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
R8251:Lrguk	UTSW	6	34116439	missense	probably benign	0.00
R8324:Lrguk	UTSW	6	34102571	missense	probably benign	0.03
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'- CATTGCTGTCATGTCACATCAAG -3'
(R):5'- CGTTTGGGAAAACACAATAATCTCC -3'

Sequencing Primer
(F):5'- CTGTCATGTCACATCAAGAAATTTAC -3'
(R):5'- TGGGAAAACACAATAATCTCCGAAAC -3'

Posted On

2021-01-18