Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02398:Lrrc9'

291770

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc9

Ensembl Gene

ENSMUSG00000021090

Gene Name

leucine rich repeat containing 9

Synonyms

4930432K16Rik, 4921529O18Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

IGL02398

Quality Score

Status

Chromosome

Chromosomal Location

72441866-72530750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72466903 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 513 (M513L)

Ref Sequence

ENSEMBL: ENSMUSP00000152125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161284] [ENSMUST00000162159] [ENSMUST00000221360]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161195

Predicted Effect

probably benign
Transcript: ENSMUST00000161284
AA Change: M513L

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

SMART Domains

Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: M513L

Domain	Start	End	E-Value	Type
Pfam:LRR_4	77	118	2.8e-11	PFAM
LRR	119	140	8.49e1	SMART
LRR	141	164	2.27e1	SMART
LRR	165	187	2.09e2	SMART
LRRcap	210	228	6.12e1	SMART
low complexity region	373	384	N/A	INTRINSIC
low complexity region	424	436	N/A	INTRINSIC
LRR	706	727	1.41e2	SMART
LRR	728	749	6.78e1	SMART
LRR	750	773	7.17e1	SMART
LRRcap	793	811	2.26e2	SMART
LRR	943	966	2.67e-1	SMART
LRR	967	992	1.22e1	SMART
LRRcap	1031	1049	4.37e0	SMART
low complexity region	1109	1120	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161957

Predicted Effect

probably benign
Transcript: ENSMUST00000162159
AA Change: M512L

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

SMART Domains

Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: M512L

Domain	Start	End	E-Value	Type
LRR	53	74	5.39e2	SMART
LRR	75	96	1.14e2	SMART
LRR	97	118	7.9e-4	SMART
LRR	119	140	2.75e-3	SMART
LRR	141	164	2.27e1	SMART
LRR	164	185	1.87e1	SMART
LRRcap	210	228	6.12e1	SMART
low complexity region	373	384	N/A	INTRINSIC
low complexity region	424	436	N/A	INTRINSIC
LRR	705	726	1.41e2	SMART
LRR	727	748	6.78e1	SMART
LRR	749	771	1.37e1	SMART
LRRcap	792	810	2.26e2	SMART
LRR	898	919	2.62e1	SMART
LRR	920	941	5.17e1	SMART
LRR	942	965	2.67e-1	SMART
LRR	966	991	1.22e1	SMART
LRR	1013	1032	4.42e2	SMART
LRRcap	1030	1048	4.37e0	SMART
low complexity region	1108	1119	N/A	INTRINSIC
LRR	1128	1150	2.4e1	SMART
LRR	1191	1209	5.7e2	SMART
LRR	1215	1236	1.03e-2	SMART
LRR	1237	1260	8.48e0	SMART
LRR	1283	1304	2.67e-1	SMART
Blast:LRR	1308	1333	4e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162179

Predicted Effect

probably benign
Transcript: ENSMUST00000221360
AA Change: M513L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,402,824	C160*	probably null	Het
Alkbh8	C	T	9: 3,345,870	P197S	possibly damaging	Het
Ankef1	A	C	2: 136,555,782	N761T	probably damaging	Het
Ankrd7	A	G	6: 18,866,697	Y72C	probably damaging	Het
Cfap36	T	G	11: 29,222,833	M231L	probably benign	Het
Cog7	A	G	7: 121,964,209	C227R	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cspg4	A	T	9: 56,886,686	E568D	probably benign	Het
Cwc27	G	A	13: 104,804,254	T199I	possibly damaging	Het
Cyp26a1	A	G	19: 37,700,019	I330V	probably benign	Het
Dcaf7	T	C	11: 106,053,753	V254A	probably benign	Het
Dhrs7	G	A	12: 72,664,692	R24C	probably damaging	Het
Ehmt2	T	A	17: 34,908,479	C838S	probably damaging	Het
Fn1	A	T	1: 71,618,670		probably null	Het
Gjb3	T	A	4: 127,326,062	S226C	probably benign	Het
Gm14496	A	G	2: 181,996,170	I346V	probably benign	Het
Gm5926	A	G	X: 32,651,386	D224G	probably damaging	Het
Gm8050	T	C	14: 6,717,330	E172G	probably damaging	Het
Higd1a	G	A	9: 121,852,524	R22W	probably damaging	Het
Hmcn1	A	G	1: 150,802,897	L491S	possibly damaging	Het
Igsf9b	T	C	9: 27,333,130	S794P	possibly damaging	Het
Irgm2	A	T	11: 58,219,929	I161F	probably damaging	Het
Lrp8	G	T	4: 107,847,494	V304F	probably damaging	Het
Lrp8	C	A	4: 107,869,048	S850R	probably damaging	Het
Myo18b	A	T	5: 112,830,312	V1248E	possibly damaging	Het
Myo1b	A	T	1: 51,757,891	N945K	probably damaging	Het
Nipbl	A	G	15: 8,327,090	L1604P	probably damaging	Het
Oas1f	A	T	5: 120,851,505	Y169F	probably benign	Het
Ogfod3	G	A	11: 121,203,025	T53I	probably benign	Het
Olfr1054	A	T	2: 86,332,524	Y277*	probably null	Het
Olfr444	A	T	6: 42,956,112	I205F	probably benign	Het
Olfr584	G	A	7: 103,086,106	C191Y	probably damaging	Het
Parp8	A	G	13: 116,910,863		probably null	Het
Pde4dip	T	C	3: 97,766,781	Y273C	probably benign	Het
Pgbd5	C	T	8: 124,384,518	A54T	probably damaging	Het
Pglyrp4	G	A	3: 90,739,117		probably benign	Het
Piezo1	A	T	8: 122,486,563	S1819R	probably benign	Het
Polr1a	T	C	6: 71,936,556		probably benign	Het
Polr1b	A	G	2: 129,102,966	I61V	probably benign	Het
Prlhr	G	T	19: 60,467,315	A271E	probably damaging	Het
Rad23b	C	T	4: 55,350,360		probably benign	Het
Rad51ap1	A	T	6: 126,928,151	S132R	probably damaging	Het
Ros1	T	A	10: 52,144,884		probably benign	Het
Ryr3	T	C	2: 112,847,422	D1327G	probably benign	Het
Slit1	A	C	19: 41,602,237	V1332G	probably damaging	Het
Tmem178b	A	G	6: 40,207,527	M120V	probably damaging	Het
Trim25	T	C	11: 88,999,804	C106R	probably damaging	Het
Trim35	A	G	14: 66,309,248	Y488C	probably damaging	Het
Tsc2	A	T	17: 24,621,729	H326Q	probably damaging	Het
Yap1	A	T	9: 7,950,535	I315K	probably benign	Het
Zfp654	A	G	16: 64,786,018	V607A	probably benign	Het

Other mutations in Lrrc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Lrrc9	APN	12	72486243	missense	possibly damaging	0.63
IGL00843:Lrrc9	APN	12	72463417	missense	possibly damaging	0.78
IGL01923:Lrrc9	APN	12	72510412	missense	possibly damaging	0.93
IGL02027:Lrrc9	APN	12	72470334	splice site	probably benign
IGL02271:Lrrc9	APN	12	72510381	missense	probably benign	0.06
IGL02795:Lrrc9	APN	12	72478768	missense	probably damaging	1.00
IGL02931:Lrrc9	APN	12	72454149	missense	probably damaging	1.00
IGL03257:Lrrc9	APN	12	72449768	missense	probably benign
BB006:Lrrc9	UTSW	12	72486297	missense	possibly damaging	0.92
BB016:Lrrc9	UTSW	12	72486297	missense	possibly damaging	0.92
IGL02799:Lrrc9	UTSW	12	72506404	missense	probably damaging	1.00
R0172:Lrrc9	UTSW	12	72463486	missense	possibly damaging	0.50
R0315:Lrrc9	UTSW	12	72456028	missense	probably damaging	0.96
R0492:Lrrc9	UTSW	12	72478763	missense	possibly damaging	0.47
R0617:Lrrc9	UTSW	12	72483014	missense	probably damaging	1.00
R0639:Lrrc9	UTSW	12	72486288	missense	probably damaging	1.00
R0987:Lrrc9	UTSW	12	72510382	missense	probably benign	0.00
R1325:Lrrc9	UTSW	12	72497104	missense	probably damaging	0.99
R1465:Lrrc9	UTSW	12	72500759	missense	probably benign	0.05
R1465:Lrrc9	UTSW	12	72500759	missense	probably benign	0.05
R1479:Lrrc9	UTSW	12	72460825	nonsense	probably null
R1564:Lrrc9	UTSW	12	72487053	missense	probably damaging	1.00
R1626:Lrrc9	UTSW	12	72495661	splice site	probably null
R1632:Lrrc9	UTSW	12	72460020	splice site	probably null
R1715:Lrrc9	UTSW	12	72477299	missense	probably damaging	1.00
R1743:Lrrc9	UTSW	12	72456117	missense	probably damaging	1.00
R1779:Lrrc9	UTSW	12	72455998	nonsense	probably null
R1866:Lrrc9	UTSW	12	72497138	missense	probably damaging	0.97
R1878:Lrrc9	UTSW	12	72476164	critical splice donor site	probably null
R1990:Lrrc9	UTSW	12	72497861	missense	probably damaging	0.99
R2361:Lrrc9	UTSW	12	72463470	missense	possibly damaging	0.52
R3752:Lrrc9	UTSW	12	72460806	nonsense	probably null
R3833:Lrrc9	UTSW	12	72482991	missense	probably damaging	1.00
R4134:Lrrc9	UTSW	12	72466966	missense	probably benign	0.00
R4651:Lrrc9	UTSW	12	72477386	missense	probably damaging	1.00
R4652:Lrrc9	UTSW	12	72477386	missense	probably damaging	1.00
R4659:Lrrc9	UTSW	12	72470264	missense	probably damaging	1.00
R4831:Lrrc9	UTSW	12	72499679	missense	probably damaging	1.00
R4857:Lrrc9	UTSW	12	72499692	missense	possibly damaging	0.94
R5017:Lrrc9	UTSW	12	72506325	missense	possibly damaging	0.86
R5163:Lrrc9	UTSW	12	72449389	missense	probably damaging	1.00
R5279:Lrrc9	UTSW	12	72495594	missense	possibly damaging	0.80
R5434:Lrrc9	UTSW	12	72454088	missense	probably damaging	0.98
R5783:Lrrc9	UTSW	12	72456053	missense	possibly damaging	0.62
R6021:Lrrc9	UTSW	12	72469231	missense	probably damaging	0.97
R6214:Lrrc9	UTSW	12	72459853	missense	probably damaging	1.00
R6255:Lrrc9	UTSW	12	72487023	missense	probably benign	0.33
R6538:Lrrc9	UTSW	12	72500929	missense	probably benign	0.08
R6563:Lrrc9	UTSW	12	72486395	splice site	probably null
R6672:Lrrc9	UTSW	12	72473936	missense	possibly damaging	0.88
R6919:Lrrc9	UTSW	12	72506393	missense	probably benign	0.01
R6929:Lrrc9	UTSW	12	72450772	missense	probably benign	0.41
R7092:Lrrc9	UTSW	12	72463464	missense	possibly damaging	0.81
R7150:Lrrc9	UTSW	12	72466952	missense	probably benign	0.00
R7338:Lrrc9	UTSW	12	72463531	splice site	probably null
R7398:Lrrc9	UTSW	12	72500816	missense	probably damaging	0.98
R7477:Lrrc9	UTSW	12	72503527	critical splice donor site	probably null
R7501:Lrrc9	UTSW	12	72449716	missense	probably damaging	1.00
R7542:Lrrc9	UTSW	12	72506320	missense	probably damaging	0.96
R7816:Lrrc9	UTSW	12	72495692	missense	probably damaging	1.00
R7870:Lrrc9	UTSW	12	72486190	missense	probably damaging	0.99
R7929:Lrrc9	UTSW	12	72486297	missense	possibly damaging	0.92
R8042:Lrrc9	UTSW	12	72460906	missense	probably benign	0.02
R8108:Lrrc9	UTSW	12	72454059	missense	probably damaging	1.00
R8192:Lrrc9	UTSW	12	72449389	missense	probably damaging	1.00
R8244:Lrrc9	UTSW	12	72499610	missense	probably benign	0.22
R8333:Lrrc9	UTSW	12	72481543	missense	probably benign	0.38
X0025:Lrrc9	UTSW	12	72497060	missense	probably damaging	1.00
Z1176:Lrrc9	UTSW	12	72477393	missense	probably damaging	1.00

Posted On

2015-04-16