Mutagenetix > Incidental Mutations

Incidental Mutation 'R8012:Lrguk'

616947

Institutional Source

Beutler Lab

Gene Symbol

Lrguk

Ensembl Gene

ENSMUSG00000056215

Gene Name

leucine-rich repeats and guanylate kinase domain containing

Synonyms

4921528H16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34056103 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 235 (N235D)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

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

AlphaFold

Q9D5S7

Predicted Effect

probably benign
Transcript: ENSMUST00000070189
AA Change: N235D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: N235D

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: N235D

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	G	19: 29,718,134	S1320P	possibly damaging	Het
Adam19	A	G	11: 46,065,046	E73G	possibly damaging	Het
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Alas1	A	T	9: 106,246,763	N65K	probably benign	Het
Amigo1	T	A	3: 108,188,642	S486T	probably damaging	Het
Arid1a	A	G	4: 133,692,863	L591S	unknown	Het
Asic1	T	C	15: 99,696,651	V326A	possibly damaging	Het
Aspm	A	G	1: 139,457,464	N282S	probably benign	Het
Atad5	A	G	11: 80,094,240	D51G	probably damaging	Het
Cabp5	A	T	7: 13,407,781		probably null	Het
Cdca2	A	G	14: 67,677,372	C813R	probably benign	Het
Chpf2	A	T	5: 24,590,345	R289W	probably damaging	Het
Csf1r	A	T	18: 61,117,064	N367I	possibly damaging	Het
Cyp2c66	T	C	19: 39,183,925	F428S	probably damaging	Het
Dgkb	A	T	12: 38,139,486	N296I	probably benign	Het
Dhcr24	T	C	4: 106,586,656	F481S	probably damaging	Het
Diaph3	T	C	14: 87,037,522	Y166C	probably benign	Het
Dnah7b	A	T	1: 46,243,365	Q2886L	probably damaging	Het
Dock6	A	T	9: 21,846,511	V99E	probably benign	Het
F830045P16Rik	T	C	2: 129,474,432	D119G	possibly damaging	Het
Fasn	A	T	11: 120,811,602	L1773Q	probably damaging	Het
Filip1	A	T	9: 79,817,959	V1126E	probably damaging	Het
Fnta	T	C	8: 25,999,507	I359V	probably benign	Het
Gm13178	T	A	4: 144,703,402	D339V	possibly damaging	Het
Hoxc10	T	C	15: 102,967,467	S204P	probably benign	Het
Kif26b	T	C	1: 178,916,250	C1304R	probably benign	Het
Lamc1	T	C	1: 153,221,612	E1562G	probably benign	Het
Ly6g6f	T	C	17: 35,081,084	R263G	possibly damaging	Het
Mcrs1	C	A	15: 99,249,885	S47I	probably damaging	Het
Mx1	T	A	16: 97,457,372	I42F	probably damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Nup188	T	A	2: 30,337,265	C1235S	possibly damaging	Het
Obsl1	T	A	1: 75,492,673	H1208L	probably benign	Het
Pcmt1	T	C	10: 7,640,763	D175G	probably benign	Het
Pcolce	T	C	5: 137,605,195	K459E	probably benign	Het
Pudp	T	G	18: 50,568,239	H141P	possibly damaging	Het
Rock2	T	C	12: 16,942,742	Y171H	probably damaging	Het
Rwdd1	A	C	10: 34,009,202		probably benign	Het
Sbno1	A	G	5: 124,384,502	V1085A	probably benign	Het
Tie1	A	G	4: 118,486,481	L88P	possibly damaging	Het
Tmem131	T	C	1: 36,807,964	D1351G	probably damaging	Het
Tph1	A	T	7: 46,656,879	D219E	probably damaging	Het
Wdr86	A	G	5: 24,730,179		probably null	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
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
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'- TGTGGGGTACATAACATTCCC -3'
(R):5'- ACTGGCTTTACTTGAACATGGAC -3'

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

Posted On

2020-01-23