Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00566:Lrguk'

332635

Institutional Source

Australian Phenomics Network (link to record)

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: 0.101) question?

Stock #

IGL00566

Quality Score

Status

Chromosome

Chromosomal Location

34006379-34110969 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34033109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 258 (L258F)

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: L258F

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

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: L258F

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: L258F

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,274,815 (GRCm39)	T173A	possibly damaging	Het
Acaa2	G	A	18: 74,926,449 (GRCm39)	G135E	probably damaging	Het
Actr2	C	A	11: 20,022,487 (GRCm39)	R328L	possibly damaging	Het
Adam1b	T	C	5: 121,639,056 (GRCm39)	D663G	probably damaging	Het
Adcy10	A	T	1: 165,379,483 (GRCm39)	E915V	probably benign	Het
Antxr2	G	A	5: 98,034,466 (GRCm39)		probably benign	Het
Ckap5	T	A	2: 91,398,972 (GRCm39)		probably benign	Het
Clec4g	T	C	8: 3,766,410 (GRCm39)		probably benign	Het
Cramp1	A	G	17: 25,202,925 (GRCm39)	V368A	probably benign	Het
Diaph3	C	T	14: 87,240,307 (GRCm39)	R248K	probably benign	Het
Fut10	T	C	8: 31,725,712 (GRCm39)	Y156H	probably damaging	Het
Ice2	T	C	9: 69,323,395 (GRCm39)	V630A	probably benign	Het
Ints13	A	T	6: 146,467,174 (GRCm39)	V179D	probably damaging	Het
Kcnj2	A	C	11: 110,962,653 (GRCm39)	E15A	probably damaging	Het
Kifbp	G	T	10: 62,395,118 (GRCm39)	S508*	probably null	Het
Lpcat2b	T	A	5: 107,581,670 (GRCm39)	L333Q	probably damaging	Het
M6pr	A	T	6: 122,290,337 (GRCm39)	K100M	probably damaging	Het
Nop14	T	C	5: 34,798,657 (GRCm39)		probably benign	Het
Pcdh20	A	G	14: 88,705,317 (GRCm39)	V661A	possibly damaging	Het
Vcan	A	T	13: 89,837,098 (GRCm39)	H2815Q	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
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
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

Posted On

2015-08-05