Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:Lrguk'

163515

Institutional Source

Beutler Lab

Gene Symbol

Lrguk

Ensembl Gene

ENSMUSG00000056215

Gene Name

leucine-rich repeats and guanylate kinase domain containing

Synonyms

4921528H16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34006379-34110969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34039295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 269 (M269L)

Ref Sequence

ENSEMBL: ENSMUSP00000153993 (fasta)

Gene Model

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

AlphaFold

Q9D5S7

Predicted Effect

probably benign
Transcript: ENSMUST00000070189
AA Change: M269L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: M269L

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 benign
Transcript: ENSMUST00000228187
AA Change: M269L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Calu	A	G	6: 29,366,955 (GRCm39)	I208V	probably benign	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cdc16	T	A	8: 13,821,445 (GRCm39)	N415K	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Chtf18	T	C	17: 25,939,583 (GRCm39)	K67R	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Kcnc1	A	G	7: 46,047,298 (GRCm39)	H66R	possibly damaging	Het
Kcnc1	T	C	7: 46,084,772 (GRCm39)		probably null	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Map3k14	T	A	11: 103,116,163 (GRCm39)	D755V	possibly damaging	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mmp10	T	G	9: 7,509,978 (GRCm39)	W473G	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or52a33	T	A	7: 103,288,801 (GRCm39)	H182L	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Prss54	A	G	8: 96,286,276 (GRCm39)	S266P	probably benign	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het
Zfp799	G	T	17: 33,039,651 (GRCm39)	T204N	possibly damaging	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
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
R7716:Lrguk	UTSW	6	34,072,474 (GRCm39)	missense	probably damaging	1.00
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'- GTTGCCTGGCTTTCCTACTGACTTAAA -3'
(R):5'- GCTTCCTGAAATCACGCCCTACAT -3'

Sequencing Primer
(F):5'- TCCTACTGACTTAAAAGTTTATGCTG -3'
(R):5'- ACATTACCAACCTTGTTATCCTCCAG -3'

Posted On

2014-03-28