Mutagenetix > Incidental Mutation

Incidental Mutation 'R5741:Lrguk'

444786

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: 0.089) question?

Stock #

R5741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34029448-34134034 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34048867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 199 (D199E)

Ref Sequence

ENSEMBL: ENSMUSP00000065146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070189] [ENSMUST00000101564] [ENSMUST00000141078] [ENSMUST00000228187]

AlphaFold

Q9D5S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000070189
AA Change: D199E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065146
Gene: ENSMUSG00000056215
AA Change: D199E

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: ENSMUST00000101564

SMART Domains

Protein: ENSMUSP00000099100
Gene: ENSMUSG00000056215

Domain	Start	End	E-Value	Type
coiled coil region	75	113	N/A	INTRINSIC
Pfam:LRR_1	150	170	9e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141078

SMART Domains

Protein: ENSMUSP00000117680
Gene: ENSMUSG00000056215

Domain	Start	End	E-Value	Type
Pfam:LRR_4	14	61	3.4e-8	PFAM
Pfam:LRR_1	15	35	6.1e-5	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000228187
AA Change: D199E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	T	G	11: 107,028,489	F220C	probably damaging	Het
4932443I19Rik	A	T	8: 13,734,835	Q32L	possibly damaging	Het
Acox3	C	T	5: 35,608,324	H140Y	probably benign	Het
Ano3	A	T	2: 110,658,273	I938K	probably benign	Het
Ap3m1	A	C	14: 21,045,720	I14S	possibly damaging	Het
Arg1	T	C	10: 24,917,999	T127A	probably benign	Het
Asah2	A	G	19: 32,008,615	Y552H	probably damaging	Het
Chst12	A	G	5: 140,523,933	N105S	probably benign	Het
Cped1	G	A	6: 22,123,621	V458I	probably benign	Het
Cyld	T	G	8: 88,744,846	I786S	probably damaging	Het
Cyp2j8	C	T	4: 96,444,643	V489I	probably benign	Het
Dlgap4	T	C	2: 156,711,048	Y462H	probably damaging	Het
Dnah5	C	A	15: 28,246,367	A617D	probably benign	Het
Erc2	T	A	14: 28,302,869		probably null	Het
Fancm	A	G	12: 65,101,615	N668S	probably benign	Het
Gm5592	A	G	7: 41,289,201	I636V	probably benign	Het
Gtf2h2	A	T	13: 100,480,558	C247S	probably benign	Het
Hyal5	T	A	6: 24,876,495	H122Q	probably damaging	Het
Ints10	G	A	8: 68,804,922	R258K	probably damaging	Het
Kir3dl1	G	A	X: 136,526,482	D56N	probably damaging	Het
Lyst	A	G	13: 13,634,030	D95G	probably benign	Het
Map2k1	A	T	9: 64,214,601	L30Q	possibly damaging	Het
Nell1	G	A	7: 50,560,890		probably null	Het
Nfatc3	T	A	8: 106,079,066	I181N	probably damaging	Het
Nipbl	T	C	15: 8,324,649	K1668R	possibly damaging	Het
Olfr1467	A	G	19: 13,365,483	N285S	probably damaging	Het
Olfr862	A	G	9: 19,883,561	V248A	possibly damaging	Het
Olfr924	T	A	9: 38,848,603	L163*	probably null	Het
Otud7b	C	T	3: 96,144,304	T189I	probably damaging	Het
Pkia	A	T	3: 7,442,045	E62D	probably benign	Het
Plcb3	G	A	19: 6,954,422	Q1154*	probably null	Het
Pole4	T	C	6: 82,651,466	E105G	probably damaging	Het
Ppp1r3a	A	G	6: 14,719,883	V344A	probably damaging	Het
Ptpn21	A	T	12: 98,679,289	L1130Q	probably damaging	Het
Rapgef5	A	G	12: 117,756,029	D564G	probably damaging	Het
Samhd1	C	T	2: 157,112,831	R387H	probably benign	Het
Spag1	A	G	15: 36,183,703	K65E	possibly damaging	Het
Spata31d1d	A	T	13: 59,728,686	V345D	possibly damaging	Het
Spin1	G	A	13: 51,149,135	V255I	possibly damaging	Het
Tmem171	A	G	13: 98,692,051	V197A	probably benign	Het
Tmigd1	T	C	11: 76,907,090	V86A	possibly damaging	Het
Ttn	T	C	2: 76,712,073	D31777G	probably damaging	Het
Tymp	T	A	15: 89,376,436	M60L	probably benign	Het
Ugdh	T	C	5: 65,427,523	T19A	probably damaging	Het
Vmn1r234	G	T	17: 21,229,469	C215F	probably benign	Het
Wnt5b	T	C	6: 119,433,729	D250G	probably damaging	Het
Xrn1	T	A	9: 96,045,551	C1463S	probably benign	Het
Zfp831	T	A	2: 174,645,152	I540N	possibly damaging	Het
Zmynd8	T	C	2: 165,840,017	D189G	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
R5324:Lrguk	UTSW	6	34073797	missense	possibly damaging	0.87
R5450:Lrguk	UTSW	6	34071061	missense	probably damaging	1.00
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'- TGGTGACAGTTAGGGTCCAG -3'
(R):5'- GTCACACTCTTCCGGGAATCAC -3'

Sequencing Primer
(F):5'- GACAGTTAGGGTCCAGGTTAG -3'
(R):5'- CCGGGAATCACTTCTCTGGTG -3'

Posted On

2016-11-21