Mutagenetix > Incidental Mutations

Incidental Mutation 'R4778:Lrguk'

368079

Institutional Source

Beutler Lab

Gene Symbol

Lrguk

Ensembl Gene

ENSMUSG00000056215

Gene Name

leucine-rich repeats and guanylate kinase domain containing

Synonyms

4921528H16Rik

MMRRC Submission

042414-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34056080 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 227 (I227K)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000070189
AA Change: I227K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: I227K

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: ENSMUST00000228187
AA Change: I227K

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

Meta Mutation Damage Score

0.8595

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	C	4: 107,891,998	V64A	probably damaging	Het
4932438A13Rik	T	A	3: 36,937,065	M897K	possibly damaging	Het
Abcc10	T	C	17: 46,304,416	N1349S	probably damaging	Het
AF529169	T	A	9: 89,603,102	I81F	probably damaging	Het
Ahnak	T	C	19: 9,011,975	V3541A	possibly damaging	Het
Arhgap33	T	A	7: 30,532,093	T156S	probably benign	Het
Card11	G	T	5: 140,883,782		probably null	Het
Cdh3	T	A	8: 106,543,826	I445N	probably damaging	Het
Csrp3	T	G	7: 48,832,563	K169N	probably damaging	Het
Cyp2c69	T	C	19: 39,877,594	N185S	probably benign	Het
Dpysl3	C	T	18: 43,354,802	V159I	probably benign	Het
Erc1	A	T	6: 119,797,337		probably null	Het
Fat1	T	C	8: 45,038,326	V3808A	probably benign	Het
Fbxw19	T	C	9: 109,494,646	D87G	probably damaging	Het
Gm1123	T	C	9: 99,018,507	I99V	probably benign	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm5045	T	A	15: 59,211,403		noncoding transcript	Het
Hand1	T	C	11: 57,831,623	D55G	possibly damaging	Het
Mdn1	C	T	4: 32,683,583	R726*	probably null	Het
Myo16	T	A	8: 10,569,694	V1415E	probably damaging	Het
Myof	T	C	19: 37,949,563	D901G	probably damaging	Het
Naip1	A	G	13: 100,426,648	Y670H	probably damaging	Het
Nmd3	T	A	3: 69,731,591	Y171*	probably null	Het
Notch4	C	T	17: 34,582,511	A1111V	possibly damaging	Het
Nphp4	T	A	4: 152,556,291	D1038E	probably benign	Het
Olfr484	A	T	7: 108,124,480	I261N	possibly damaging	Het
Olfr694	A	C	7: 106,689,667	S21R	probably damaging	Het
Osbpl10	C	T	9: 115,109,530	S86L	probably damaging	Het
Pcsk6	G	A	7: 65,959,145	G252R	probably damaging	Het
Pole	T	G	5: 110,330,832	H15Q	probably benign	Het
Pstpip1	A	G	9: 56,128,620	D383G	possibly damaging	Het
Ptprq	T	C	10: 107,591,022	T1551A	probably benign	Het
Rasgrf2	A	G	13: 91,983,661	F626L	probably damaging	Het
Retreg1	C	A	15: 25,971,785	N394K	possibly damaging	Het
Rpp14	T	A	14: 8,090,203	D42E	probably benign	Het
Rrp8	T	A	7: 105,737,274		probably benign	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Snx1	T	C	9: 66,101,416		probably benign	Het
Stau1	A	T	2: 166,963,522	N51K	probably benign	Het
Tdrd5	T	A	1: 156,255,587	D960V	probably damaging	Het
Tex10	T	C	4: 48,436,468	D750G	probably damaging	Het
Tmem43	T	C	6: 91,482,255	V236A	probably damaging	Het
Tmem89	T	C	9: 108,915,375	V112A	probably damaging	Het
Traf7	C	G	17: 24,510,438		probably benign	Het
Vmn1r41	A	C	6: 89,747,275	K266T	probably damaging	Het
Vmn2r65	T	C	7: 84,943,593	K469E	possibly damaging	Het
Zfp831	A	G	2: 174,646,807	T1092A	possibly damaging	Het
Zfp981	T	A	4: 146,537,655	S346T	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
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
X0057:Lrguk	UTSW	6	34078747	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TGTGGGGTACATAACATTCCC -3'
(R):5'- ACTGGCTTTACTTGAACATGGAC -3'

Sequencing Primer
(F):5'- CTTGTGTGAATGTCAAAGGACCAC -3'
(R):5'- GGCTTTACTTGAACATGGACTATTG -3'

Posted On

2015-12-29