Mutagenetix > Incidental Mutation

Incidental Mutation 'R5324:Lrguk'

405013

Institutional Source

Beutler Lab

Gene Symbol

Lrguk

Ensembl Gene

ENSMUSG00000056215

Gene Name

leucine-rich repeats and guanylate kinase domain containing

Synonyms

4921528H16Rik

MMRRC Submission

042907-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R5324 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34073797 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 397 (S397P)

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: S397P

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: S397P

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

possibly damaging
Transcript: ENSMUST00000228187
AA Change: S397P

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,907		probably benign	Het
Akap10	C	T	11: 61,916,189	A72T	probably damaging	Het
Ap5b1	G	A	19: 5,569,835	E428K	possibly damaging	Het
Bmp2	C	T	2: 133,561,359	R277*	probably null	Het
Cbl	A	T	9: 44,154,254	S659T	probably damaging	Het
Col14a1	A	T	15: 55,338,445	H43L	unknown	Het
Corin	A	G	5: 72,435,257	C133R	probably damaging	Het
Cyp1a1	A	G	9: 57,702,369	N401S	probably benign	Het
Dip2a	T	C	10: 76,296,393	D508G	probably damaging	Het
Dnah2	T	A	11: 69,457,993	H2556L	probably benign	Het
Dock8	T	C	19: 25,163,094	F1333L	probably benign	Het
Epg5	A	G	18: 77,962,445	K717E	possibly damaging	Het
Fmn2	G	A	1: 174,608,880		probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Hbp1	T	C	12: 31,928,618	N510S	probably damaging	Het
Mmrn1	A	T	6: 60,976,586	D617V	probably damaging	Het
Mroh9	C	G	1: 163,060,760	G249R	probably damaging	Het
N6amt1	A	G	16: 87,354,353	D34G	probably damaging	Het
Nktr	A	T	9: 121,727,346	D30V	probably damaging	Het
Olfr1151	A	T	2: 87,857,696	I174F	probably damaging	Het
Olfr598	T	A	7: 103,329,050	M188K	probably damaging	Het
Olfr805	T	A	10: 129,722,945	I200L	probably benign	Het
Pabpc1	A	G	15: 36,600,625	F314L	probably damaging	Het
Papln	G	A	12: 83,774,571	V226M	probably damaging	Het
Parp12	A	T	6: 39,102,612	D321E	probably damaging	Het
Plch2	T	A	4: 154,984,534	T1107S	probably benign	Het
Psma2	T	C	13: 14,625,217	L182P	probably damaging	Het
Rcl1	A	G	19: 29,128,001	Y196C	probably benign	Het
Rdh16	G	A	10: 127,801,267	V24M	probably damaging	Het
Rpe65	A	G	3: 159,604,404	T105A	possibly damaging	Het
Serpini1	T	C	3: 75,640,294	I371T	probably damaging	Het
Tet2	T	C	3: 133,485,913	N920S	probably benign	Het
Tmem71	C	T	15: 66,555,214	S44N	probably benign	Het
Tmprss11f	T	A	5: 86,556,978	D27V	possibly damaging	Het
Zxdc	T	A	6: 90,373,800	I411N	probably damaging	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
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
R8828:Lrguk	UTSW	6	34103637	missense	unknown
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'- TTTTGGGAAAGTTAGAGTTGACCAGAG -3'
(R):5'- TGAGAAAGCAGCTTCCACG -3'

Sequencing Primer
(F):5'- GGACCACGTGACTTACCTTG -3'
(R):5'- AAGCAGCTTCCACGGGGAC -3'

Posted On

2016-07-22