Mutagenetix > Incidental Mutation

Incidental Mutation 'R7716:Lrguk'

594911

Institutional Source

Beutler Lab

Gene Symbol

Lrguk

Ensembl Gene

ENSMUSG00000056215

Gene Name

leucine-rich repeats and guanylate kinase domain containing

Synonyms

4921528H16Rik

MMRRC Submission

045774-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R7716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34006379-34110969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34072474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 588 (A588V)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

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

AlphaFold

Q9D5S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000070189
AA Change: A588V

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

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: A588V

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: A588V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,162 (GRCm39)	C41Y	possibly damaging	Het
Abcg1	A	G	17: 31,328,493 (GRCm39)	I421V	probably benign	Het
Ank2	G	T	3: 126,736,815 (GRCm39)	T3023K	unknown	Het
Asb5	T	A	8: 55,038,021 (GRCm39)	H181Q	probably benign	Het
Asnsd1	C	T	1: 53,386,902 (GRCm39)	V242I	probably benign	Het
Atp2a1	C	A	7: 126,061,359 (GRCm39)	G46V	possibly damaging	Het
Birc6	A	G	17: 74,869,056 (GRCm39)	S335G	probably damaging	Het
Bmp1	A	T	14: 70,715,362 (GRCm39)	Y924*	probably null	Het
Ccdc3	T	A	2: 5,143,113 (GRCm39)	F123L	probably benign	Het
Col6a6	C	A	9: 105,661,102 (GRCm39)	V336L	possibly damaging	Het
Cpe	T	C	8: 65,064,431 (GRCm39)	Y256C	probably damaging	Het
Creb1	T	A	1: 64,605,420 (GRCm39)	D62E	possibly damaging	Het
Cyp4a32	T	A	4: 115,458,283 (GRCm39)	Y38N	probably damaging	Het
Cyren	T	C	6: 34,852,516 (GRCm39)	N60D	possibly damaging	Het
Dnajc1	A	G	2: 18,224,684 (GRCm39)	S390P	probably benign	Het
Edrf1	G	A	7: 133,245,455 (GRCm39)	E198K	probably damaging	Het
Ehmt1	A	G	2: 24,774,511 (GRCm39)	S98P	probably damaging	Het
Emsy	G	A	7: 98,248,973 (GRCm39)	A812V	unknown	Het
Eppk1	A	T	15: 75,991,703 (GRCm39)	L1726*	probably null	Het
Flnb	G	T	14: 7,917,274 (GRCm38)	K1584N	possibly damaging	Het
Gclc	C	T	9: 77,662,209 (GRCm39)	R40W	probably damaging	Het
Gnpat	A	G	8: 125,603,673 (GRCm39)	R194G	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Il17re	T	C	6: 113,439,930 (GRCm39)		probably null	Het
Inpp5d	G	A	1: 87,593,121 (GRCm39)	V74I	probably damaging	Het
Iqcb1	T	C	16: 36,687,969 (GRCm39)	S443P	probably benign	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Kansl1l	A	G	1: 66,840,292 (GRCm39)	V336A	probably damaging	Het
Klhdc4	T	A	8: 122,556,159 (GRCm39)	M21L	unknown	Het
Lgalsl2	T	C	7: 5,362,819 (GRCm39)	I150T	possibly damaging	Het
Marchf5	T	C	19: 37,197,822 (GRCm39)	Y164H	probably benign	Het
Mbip	T	A	12: 56,392,473 (GRCm39)	H38L	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Myh8	A	T	11: 67,189,478 (GRCm39)	Q1218L	possibly damaging	Het
Ndc80	A	T	17: 71,830,589 (GRCm39)	I56K	probably benign	Het
Ndufs1	T	C	1: 63,192,016 (GRCm39)	D437G	possibly damaging	Het
Nlrc4	A	G	17: 74,753,651 (GRCm39)	L244P	probably damaging	Het
Or11h6	A	G	14: 50,879,815 (GRCm39)	T20A	probably benign	Het
Or14a258	A	T	7: 86,035,262 (GRCm39)	M202K	probably benign	Het
Pdc	A	C	1: 150,206,534 (GRCm39)	D40A	probably benign	Het
Pdzd2	T	C	15: 12,373,460 (GRCm39)	Y2225C	possibly damaging	Het
Plce1	G	T	19: 38,705,295 (GRCm39)	G900V	probably benign	Het
Plpp1	A	T	13: 112,993,323 (GRCm39)	H86L	probably benign	Het
Plpp1	T	G	13: 112,996,186 (GRCm39)	F168C	probably damaging	Het
Pms1	G	A	1: 53,246,767 (GRCm39)	P312S	probably damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Pygo1	A	G	9: 72,850,208 (GRCm39)	D19G	probably damaging	Het
Sdr42e1	T	A	8: 118,400,386 (GRCm39)		probably benign	Het
Serpinb8	C	T	1: 107,532,438 (GRCm39)	R177*	probably null	Het
Serpini1	A	C	3: 75,524,021 (GRCm39)	S210R	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Smco3	T	A	6: 136,808,247 (GRCm39)	Y209F	probably damaging	Het
Smtn	C	G	11: 3,474,708 (GRCm39)	S216T	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Sri	T	A	5: 8,106,641 (GRCm39)		probably null	Het
Strn	G	A	17: 78,963,204 (GRCm39)	P716L	probably damaging	Het
Tmem167b	T	C	3: 108,466,213 (GRCm39)	Y69C	probably damaging	Het
Trpc7	A	T	13: 56,937,573 (GRCm39)	F628I	probably damaging	Het
Trrap	T	A	5: 144,713,956 (GRCm39)	I65N	possibly damaging	Het
Tspan14	C	A	14: 40,633,090 (GRCm39)	G201C	probably damaging	Het
Tti1	T	A	2: 157,842,618 (GRCm39)	I804F	probably benign	Het
Unc5b	C	T	10: 60,613,217 (GRCm39)	G340R	probably damaging	Het
Usp13	C	A	3: 32,892,005 (GRCm39)	Y61*	probably null	Het
Vmn1r230	T	C	17: 21,067,144 (GRCm39)	M111T	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,704 (GRCm39)	Y760N	probably damaging	Het
Vmn2r87	A	G	10: 130,308,018 (GRCm39)	V740A	probably benign	Het
Zbtb14	A	G	17: 69,694,415 (GRCm39)	I38V	probably benign	Het
Zfp623	T	C	15: 75,820,271 (GRCm39)	I409T	probably damaging	Het
Zfp764l1	T	A	7: 126,991,259 (GRCm39)	M243L	probably benign	Het

Other mutations in Lrguk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Lrguk	APN	6	34,020,364 (GRCm39)	missense	probably damaging	1.00
IGL00566:Lrguk	APN	6	34,033,109 (GRCm39)	missense	probably damaging	1.00
IGL01720:Lrguk	APN	6	34,020,412 (GRCm39)	missense	probably damaging	1.00
IGL02325:Lrguk	APN	6	34,106,114 (GRCm39)	missense	probably benign	0.31
IGL02484:Lrguk	APN	6	34,069,726 (GRCm39)	missense	probably damaging	1.00
IGL02493:Lrguk	APN	6	34,106,127 (GRCm39)	missense	probably benign	0.03
IGL02636:Lrguk	APN	6	34,067,123 (GRCm39)	missense	probably damaging	1.00
IGL03278:Lrguk	APN	6	34,093,381 (GRCm39)	missense	possibly damaging	0.80
R0031:Lrguk	UTSW	6	34,020,431 (GRCm39)	missense	probably damaging	0.99
R1069:Lrguk	UTSW	6	34,025,818 (GRCm39)	missense	possibly damaging	0.63
R1487:Lrguk	UTSW	6	34,039,295 (GRCm39)	missense	probably benign	0.01
R1568:Lrguk	UTSW	6	34,063,373 (GRCm39)	missense	probably damaging	1.00
R1604:Lrguk	UTSW	6	34,049,305 (GRCm39)	missense	possibly damaging	0.67
R1847:Lrguk	UTSW	6	34,110,322 (GRCm39)	missense	possibly damaging	0.52
R2045:Lrguk	UTSW	6	34,048,003 (GRCm39)	missense	probably damaging	1.00
R2107:Lrguk	UTSW	6	34,039,296 (GRCm39)	missense	probably benign	0.15
R2125:Lrguk	UTSW	6	34,069,837 (GRCm39)	missense	probably benign	0.05
R2136:Lrguk	UTSW	6	34,020,454 (GRCm39)	missense	probably benign	0.00
R2997:Lrguk	UTSW	6	34,050,697 (GRCm39)	missense	probably damaging	0.98
R3847:Lrguk	UTSW	6	34,050,703 (GRCm39)	missense	probably damaging	1.00
R3849:Lrguk	UTSW	6	34,050,703 (GRCm39)	missense	probably damaging	1.00
R4626:Lrguk	UTSW	6	34,106,158 (GRCm39)	missense	probably benign	0.00
R4718:Lrguk	UTSW	6	34,006,431 (GRCm39)	missense	probably benign	0.02
R4778:Lrguk	UTSW	6	34,033,015 (GRCm39)	missense	probably damaging	1.00
R4841:Lrguk	UTSW	6	34,069,802 (GRCm39)	missense	probably damaging	0.98
R5324:Lrguk	UTSW	6	34,050,732 (GRCm39)	missense	possibly damaging	0.87
R5450:Lrguk	UTSW	6	34,047,996 (GRCm39)	missense	probably damaging	1.00
R5741:Lrguk	UTSW	6	34,025,802 (GRCm39)	missense	probably damaging	0.99
R5939:Lrguk	UTSW	6	34,055,688 (GRCm39)	missense	probably damaging	1.00
R5997:Lrguk	UTSW	6	34,106,078 (GRCm39)	missense	probably damaging	0.99
R6786:Lrguk	UTSW	6	34,072,522 (GRCm39)	missense	probably benign	0.11
R6802:Lrguk	UTSW	6	34,039,392 (GRCm39)	missense	probably damaging	1.00
R7081:Lrguk	UTSW	6	34,079,074 (GRCm39)	missense	probably benign	0.01
R7303:Lrguk	UTSW	6	34,006,411 (GRCm39)	missense	probably benign	0.00
R7316:Lrguk	UTSW	6	34,080,191 (GRCm39)	missense	unknown
R7473:Lrguk	UTSW	6	34,006,630 (GRCm39)	missense	probably benign	0.01
R7543:Lrguk	UTSW	6	34,025,870 (GRCm39)	nonsense	probably null
R7613:Lrguk	UTSW	6	34,078,683 (GRCm39)	missense	possibly damaging	0.68
R7900:Lrguk	UTSW	6	34,106,129 (GRCm39)	missense	probably benign	0.01
R8012:Lrguk	UTSW	6	34,033,038 (GRCm39)	missense	probably benign	0.00
R8251:Lrguk	UTSW	6	34,093,374 (GRCm39)	missense	probably benign	0.00
R8324:Lrguk	UTSW	6	34,079,506 (GRCm39)	missense	probably benign	0.03
R8551:Lrguk	UTSW	6	34,093,446 (GRCm39)	missense	probably damaging	0.96
R8828:Lrguk	UTSW	6	34,080,572 (GRCm39)	missense	unknown
R8879:Lrguk	UTSW	6	34,006,618 (GRCm39)	missense	probably benign	0.00
X0057:Lrguk	UTSW	6	34,055,682 (GRCm39)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- TCAGCCTGTTAGGTCAGCAT -3'
(R):5'- GAGCCAGCATTAGCCCAACTAA -3'

Sequencing Primer
(F):5'- CTATGATCTGAGTGAACCACCTGG -3'
(R):5'- TTAGCCCAACTAATGAGTAACCAAG -3'

Posted On

2019-11-12