Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01886:Lrrc69'

179151

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc69

Ensembl Gene

ENSMUSG00000023151

Gene Name

leucine rich repeat containing 69

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

14623620-14796060 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14703984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 279 (V279I)

Ref Sequence

ENSEMBL: ENSMUSP00000103911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023917] [ENSMUST00000108276]

AlphaFold

Q9D9Q0

Predicted Effect

probably benign
Transcript: ENSMUST00000023917
AA Change: V279I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000023917
Gene: ENSMUSG00000023151
AA Change: V279I

Domain	Start	End	E-Value	Type
LRR	36	58	4.57e0	SMART
LRR	59	81	2.82e0	SMART
LRR	82	105	7.55e-1	SMART
LRR	106	128	7.79e0	SMART
LRR	129	151	1.99e0	SMART
LRR	152	174	5.72e0	SMART
LRR	175	197	3.86e0	SMART
LRR	198	220	8.24e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108276
AA Change: V279I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000103911
Gene: ENSMUSG00000023151
AA Change: V279I

Domain	Start	End	E-Value	Type
LRR	36	58	4.57e0	SMART
LRR	59	81	2.82e0	SMART
LRR	82	105	7.55e-1	SMART
LRR	106	128	7.79e0	SMART
LRR	129	151	1.99e0	SMART
LRR	152	174	5.72e0	SMART
LRR	175	197	3.86e0	SMART
LRR	198	220	8.24e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143565

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,659,158	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,730,265	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613	N768K	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Clec7a	A	T	6: 129,463,177		probably benign	Het
Cyp3a13	G	A	5: 137,898,820	P411S	probably damaging	Het
Elavl2	A	G	4: 91,264,093	V129A	probably damaging	Het
Ercc6	T	A	14: 32,569,580	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262	K8I	probably damaging	Het
Esr1	T	A	10: 4,856,861	I259K	probably damaging	Het
Filip1l	A	G	16: 57,571,250	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814	I891F	probably damaging	Het
Kat7	T	C	11: 95,306,133	T27A	probably benign	Het
Kdm1a	A	G	4: 136,561,016		probably null	Het
Kifc5b	T	C	17: 26,932,117	V663A	probably damaging	Het
Lama1	T	G	17: 67,807,797	S2314A	probably benign	Het
Mast3	A	T	8: 70,782,139	L774Q	possibly damaging	Het
Med27	C	A	2: 29,413,482	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,169,090		probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	T	C	2: 52,183,845		probably benign	Het
Nlrp1a	T	C	11: 71,123,501	T308A	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,509	Y99C	probably damaging	Het
Olfr926	G	T	9: 38,877,548	C124F	probably damaging	Het
Orc1	T	A	4: 108,603,957		probably null	Het
Pnkp	G	A	7: 44,862,207	A76T	probably damaging	Het
Polr3h	T	C	15: 81,917,390	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,304,447	M62K	unknown	Het
Prpf8	C	A	11: 75,495,744	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,342,042	N778K	probably damaging	Het
Riok3	T	A	18: 12,139,385	N204K	probably damaging	Het
Shank3	A	G	15: 89,531,663	K650E	probably damaging	Het
Sim1	T	A	10: 50,984,315	S758T	probably damaging	Het
Slu7	T	G	11: 43,439,260	N171K	probably damaging	Het
Sult6b2	A	G	6: 142,790,126		probably null	Het
Taf6l	C	T	19: 8,778,086		probably null	Het
Ubtfl1	G	A	9: 18,409,721	V182M	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Lrrc69

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01300:Lrrc69	APN	4	14773663	splice site	probably benign
IGL03084:Lrrc69	APN	4	14708631	missense	probably damaging	1.00
R0588:Lrrc69	UTSW	4	14704001	missense	possibly damaging	0.71
R1664:Lrrc69	UTSW	4	14775079	missense	probably damaging	1.00
R1956:Lrrc69	UTSW	4	14665986	missense	possibly damaging	0.50
R1984:Lrrc69	UTSW	4	14708669	missense	possibly damaging	0.93
R1985:Lrrc69	UTSW	4	14708669	missense	possibly damaging	0.93
R1986:Lrrc69	UTSW	4	14708669	missense	possibly damaging	0.93
R2229:Lrrc69	UTSW	4	14773694	missense	probably benign	0.00
R3691:Lrrc69	UTSW	4	14795980	missense	possibly damaging	0.94
R5691:Lrrc69	UTSW	4	14769648	missense	probably damaging	1.00
R5882:Lrrc69	UTSW	4	14708690	missense	probably damaging	1.00
R6113:Lrrc69	UTSW	4	14708673	missense	probably benign	0.00
R7228:Lrrc69	UTSW	4	14775027	missense	probably damaging	1.00
R7880:Lrrc69	UTSW	4	14703946	missense	possibly damaging	0.90
R8047:Lrrc69	UTSW	4	14773726	missense	probably benign	0.07
R8375:Lrrc69	UTSW	4	14795994	missense	probably benign	0.36
R8547:Lrrc69	UTSW	4	14704014	missense	probably benign	0.00
R9332:Lrrc69	UTSW	4	14774987	missense	probably damaging	1.00

Posted On

2014-05-07