Mutagenetix > Incidental Mutations

Incidental Mutation 'R8828:Lrguk'

673603

Institutional Source

Beutler Lab

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: 0.085) question?

Stock #

R8828 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34103637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 1269 (Q1269P)

Ref Sequence

ENSEMBL: ENSMUSP00000153993 (fasta)

Gene Model

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

AlphaFold

Q9D5S7

Predicted Effect

probably benign
Transcript: ENSMUST00000070189

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215

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

unknown
Transcript: ENSMUST00000228187
AA Change: Q1269P

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700080E11Rik	C	T	9: 105,144,449	D133N	probably damaging	Het
Abi3bp	A	T	16: 56,687,092	Y1091F	probably damaging	Het
Arl8b	A	G	6: 108,815,289	I104V	probably benign	Het
Asb2	C	A	12: 103,338,198	G16C	probably benign	Het
Bptf	T	C	11: 107,055,010	S2468G	probably damaging	Het
Capns1	T	A	7: 30,190,538	D182V	probably damaging	Het
Cct5	T	C	15: 31,594,512	H182R	possibly damaging	Het
Cd200	G	A	16: 45,394,794	R165C	probably benign	Het
Chd3	C	T	11: 69,356,271	V1024I	probably damaging	Het
Chd8	CAGGGTCTGCCCTCATGGTATTGTATTTCTCATAGCCTAAAAGAACAAGGG	C	14: 52,210,580		probably null	Het
Csmd1	T	C	8: 15,998,794	S2303G	probably benign	Het
Ctsl	A	G	13: 64,366,500	S255P	probably damaging	Het
Dclre1c	T	G	2: 3,443,677	N268K	possibly damaging	Het
Dock10	T	C	1: 80,543,417	D1158G	probably damaging	Het
Dock6	A	T	9: 21,846,501	D102E	probably benign	Het
Dvl3	T	A	16: 20,525,745	D290E	probably damaging	Het
Fam72a	T	A	1: 131,530,723	C74*	probably null	Het
Gnrh1	T	A	14: 67,747,885	L73Q	probably damaging	Het
Grina	T	A	15: 76,248,297	S115T	probably damaging	Het
Grm3	A	T	5: 9,504,725	S856T	probably benign	Het
Hars	C	A	18: 36,766,943	R490L	possibly damaging	Het
Ide	T	A	19: 37,314,842	K318I		Het
Immt	C	A	6: 71,852,778	S156*	probably null	Het
Iqcd	A	G	5: 120,600,167	I17V	possibly damaging	Het
Klhdc1	T	C	12: 69,252,034	V131A	probably damaging	Het
Klk6	C	A	7: 43,828,637	N144K		Het
Klk6	T	C	7: 43,828,638	C145R	probably damaging	Het
Lrfn2	A	T	17: 49,097,104	T752S	probably damaging	Het
Lrwd1	G	T	5: 136,135,933	Q7K	probably benign	Het
Macf1	A	T	4: 123,408,411	M766K	probably benign	Het
Myo3a	A	T	2: 22,241,053	T4S	probably benign	Het
Neb	T	C	2: 52,194,426	Y5587C	probably damaging	Het
Nf1	A	T	11: 79,395,853		probably null	Het
Npepps	G	T	11: 97,240,997	R344S	probably damaging	Het
Olfr111	A	G	17: 37,530,442	N155S	probably damaging	Het
Olfr656	A	T	7: 104,618,279	Y200F	probably damaging	Het
Pcnx	T	A	12: 81,995,823	W2286R	probably damaging	Het
Ppm1g	A	T	5: 31,208,424	N51K	probably benign	Het
Ppp1r13b	T	C	12: 111,833,547	K722E	probably damaging	Het
Prim1	A	G	10: 128,023,892	S318G	probably damaging	Het
Prl4a1	T	C	13: 28,023,324	Y194H	probably damaging	Het
Prl7c1	A	T	13: 27,773,871	D195E	probably benign	Het
Psmb2	A	G	4: 126,709,537	D186G	probably benign	Het
Ptprq	A	G	10: 107,646,652	V1020A	probably benign	Het
Scgb2b20	T	C	7: 33,366,264	T13A	unknown	Het
Scly	C	A	1: 91,317,108	H310Q	possibly damaging	Het
Sdccag8	G	A	1: 176,955,907	E661K	probably damaging	Het
Sema4f	G	A	6: 82,917,892	L441F	probably benign	Het
Sema4f	A	C	6: 82,917,893	Y440*	probably null	Het
Tmem262	C	T	19: 6,080,088		probably benign	Het
Trim33	A	G	3: 103,329,076	T501A	probably damaging	Het
Trio	C	A	15: 27,741,064	V2692F	possibly damaging	Het
Ttn	G	T	2: 76,711,612	R33677S	probably benign	Het
Ttn	A	T	2: 76,942,430	V2453E	unknown	Het
Uaca	T	A	9: 60,871,570	S1080T	probably benign	Het
Vav3	T	A	3: 109,647,735	C660S	probably benign	Het
Vmn1r229	T	A	17: 20,814,728	D78E	probably damaging	Het
Vmn2r73	A	G	7: 85,871,971	V263A	probably damaging	Het
Yeats2	A	T	16: 20,150,510	D17V	probably benign	Het
Zfp658	T	A	7: 43,572,816	W172R	probably benign	Het
Zfp804a	A	C	2: 82,259,115	H1096P	possibly damaging	Het
Zkscan14	C	T	5: 145,201,565	W37*	probably null	Het
Zmynd15	A	T	11: 70,464,191	D468V	probably damaging	Het
Zmynd8	A	T	2: 165,812,546	V682E	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
R8551:Lrguk	UTSW	6	34116511	missense	probably damaging	0.96
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'- TGAGGATCAGCCAACCAGAG -3'
(R):5'- AAGGCTCACACTTTGATACTCTG -3'

Sequencing Primer
(F):5'- TCAGCCAACCAGAGAGGGTC -3'
(R):5'- GATACTCTGACTGCCCCTGG -3'

Posted On

2021-07-15