Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01923:Lrrc9'

180166

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

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

IGL01923

Quality Score

Status

Chromosome

Chromosomal Location

72441866-72530750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72510412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1417 (V1417A)

Ref Sequence

ENSEMBL: ENSMUSP00000124394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162159] [ENSMUST00000220791] [ENSMUST00000221360]

AlphaFold

Q8CDN9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161195

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162159
AA Change: V1417A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: V1417A

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

probably benign
Transcript: ENSMUST00000220791

Predicted Effect

probably benign
Transcript: ENSMUST00000221360

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	A	5: 129,178,079	S597T	possibly damaging	Het
Btnl9	T	C	11: 49,180,582	D138G	probably benign	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Cep135	T	A	5: 76,640,982	*1141K	probably null	Het
Ctnnd2	A	T	15: 30,480,828	Q74L	probably damaging	Het
Cyp2j13	A	T	4: 96,062,057	W236R	probably benign	Het
Dixdc1	A	T	9: 50,695,503	I271N	possibly damaging	Het
Dlec1	A	G	9: 119,128,114		probably null	Het
Dnah9	C	A	11: 66,125,235		probably benign	Het
Dopey1	A	T	9: 86,522,867	Y275F	probably damaging	Het
Dysf	T	A	6: 84,210,829	*2105R	probably null	Het
Eif4a1	A	T	11: 69,672,303	D25E	possibly damaging	Het
Fras1	T	A	5: 96,735,280	I2557N	probably damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm12253	G	T	11: 58,434,901		probably null	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Hsd17b7	A	G	1: 169,959,466	V254A	probably benign	Het
Kif21a	T	A	15: 90,956,430	D143V	probably damaging	Het
Macf1	C	T	4: 123,380,444	A4926T	possibly damaging	Het
Mef2a	A	C	7: 67,264,872	S91R	probably damaging	Het
Myh7	A	G	14: 54,985,459		probably null	Het
Olfr808	T	A	10: 129,768,104	F203I	probably benign	Het
Pbx2	A	G	17: 34,594,050	D160G	probably damaging	Het
Pcdhb17	T	C	18: 37,486,737	F527L	probably benign	Het
Ppm1b	T	C	17: 84,994,061	L123P	probably damaging	Het
Ppm1k	T	A	6: 57,522,828	K154N	probably benign	Het
Ppp2r1a	T	G	17: 20,965,469	*590G	probably null	Het
Raver1	A	T	9: 21,079,240	L589Q	probably damaging	Het
Rrbp1	A	G	2: 143,990,161	S29P	probably damaging	Het
Senp5	A	G	16: 31,965,816	Y673H	probably damaging	Het
Serpina3j	T	A	12: 104,315,214		probably benign	Het
Serpinc1	A	G	1: 160,989,546	E70G	probably damaging	Het
Stag3	A	G	5: 138,289,230	Q139R	probably damaging	Het
Sva	T	A	6: 42,042,170	H91Q	probably benign	Het
Tmem263	C	T	10: 85,114,431	Q29*	probably null	Het
Tpp1	T	C	7: 105,751,650	N57D	probably benign	Het
Vmn2r27	T	A	6: 124,200,525	I507L	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Wdr11	A	T	7: 129,632,322		probably null	Het
Zfp236	C	T	18: 82,682,219	E42K	probably damaging	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
IGL02027:Lrrc9	APN	12	72470334	splice site	probably benign
IGL02271:Lrrc9	APN	12	72510381	missense	probably benign	0.06
IGL02398:Lrrc9	APN	12	72466903	missense	probably benign
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
R9288:Lrrc9	UTSW	12	72476084	missense	probably benign	0.01
R9324:Lrrc9	UTSW	12	72449397	missense	probably damaging	1.00
R9342:Lrrc9	UTSW	12	72459993	missense	probably damaging	1.00
R9557:Lrrc9	UTSW	12	72486207	missense	probably benign	0.01
R9624:Lrrc9	UTSW	12	72450812	missense	probably benign	0.19
R9677:Lrrc9	UTSW	12	72450765	missense	probably damaging	1.00
X0025:Lrrc9	UTSW	12	72497060	missense	probably damaging	1.00
Z1176:Lrrc9	UTSW	12	72477393	missense	probably damaging	1.00

Posted On

2014-05-07