Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01822:Lrrc66'

154581

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc66

Ensembl Gene

ENSMUSG00000067206

Gene Name

leucine rich repeat containing 66

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL01822

Quality Score

Status

Chromosome

Chromosomal Location

73763985-73789771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73787311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 13 (T13I)

Ref Sequence

ENSEMBL: ENSMUSP00000084423 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081170] [ENSMUST00000087177] [ENSMUST00000152215]

AlphaFold

Q8K0B3

Predicted Effect

probably benign
Transcript: ENSMUST00000081170

SMART Domains

Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156

Domain	Start	End	E-Value	Type
Pfam:Sarcoglycan_1	56	305	4.3e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000087177
AA Change: T13I

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084423
Gene: ENSMUSG00000067206
AA Change: T13I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LRR	140	162	1.81e1	SMART
LRR_TYP	163	186	9.44e-2	SMART
LRR	187	210	1.26e2	SMART
LRR	211	234	4.84e1	SMART
low complexity region	298	309	N/A	INTRINSIC
transmembrane domain	369	391	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	842	859	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152215
AA Change: T13I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000120280
Gene: ENSMUSG00000067206
AA Change: T13I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(1) Gene trapped(1)

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cald1	A	T	6: 34,730,507 (GRCm39)	T269S	probably damaging	Het
Cntnap5c	T	A	17: 58,362,700 (GRCm39)	I351N	probably damaging	Het
Dhcr7	T	A	7: 143,399,236 (GRCm39)	I296N	probably damaging	Het
Dnah17	A	G	11: 117,972,819 (GRCm39)	F2038S	probably damaging	Het
Dsel	A	G	1: 111,789,626 (GRCm39)	L303P	probably damaging	Het
Fabp12	G	A	3: 10,311,082 (GRCm39)	R127*	probably null	Het
Fgf12	A	T	16: 28,008,351 (GRCm39)	S150T	possibly damaging	Het
Fkbp15	A	G	4: 62,270,741 (GRCm39)	M32T	probably benign	Het
Mmgt2	T	C	11: 62,555,832 (GRCm39)	V60A	possibly damaging	Het
Neb	G	T	2: 52,148,758 (GRCm39)	S2596R	possibly damaging	Het
Nfkbib	T	C	7: 28,461,134 (GRCm39)	D171G	probably benign	Het
Oas1a	T	C	5: 121,037,277 (GRCm39)	E250G	probably benign	Het
Or2n1	C	A	17: 38,486,339 (GRCm39)	D121E	probably damaging	Het
Or4a27	A	T	2: 88,559,136 (GRCm39)	I269N	probably benign	Het
Rnf182	T	C	13: 43,821,508 (GRCm39)	C20R	probably damaging	Het
Scn3a	T	C	2: 65,325,608 (GRCm39)	K970E	probably damaging	Het
Slc30a2	T	A	4: 134,075,948 (GRCm39)	Y192N	probably damaging	Het
Ttn	C	T	2: 76,616,670 (GRCm39)	E16528K	possibly damaging	Het
Vmn2r100	T	A	17: 19,725,100 (GRCm39)	C10S	probably null	Het
Vmn2r61	A	T	7: 41,950,130 (GRCm39)	H850L	probably benign	Het
Vmn2r87	T	C	10: 130,307,991 (GRCm39)	Y749C	probably damaging	Het
Wnt5b	A	T	6: 119,410,433 (GRCm39)	C336S	probably damaging	Het
Zfp398	G	A	6: 47,843,205 (GRCm39)	R287Q	probably damaging	Het

Other mutations in Lrrc66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Lrrc66	APN	5	73,764,457 (GRCm39)	missense	probably benign	0.10
IGL00913:Lrrc66	APN	5	73,765,499 (GRCm39)	missense	possibly damaging	0.76
IGL00954:Lrrc66	APN	5	73,765,741 (GRCm39)	missense	possibly damaging	0.94
IGL01061:Lrrc66	APN	5	73,772,842 (GRCm39)	missense	probably benign	0.01
IGL01343:Lrrc66	APN	5	73,765,806 (GRCm39)	missense	probably damaging	0.98
IGL01714:Lrrc66	APN	5	73,787,320 (GRCm39)	missense	probably benign	0.10
IGL02005:Lrrc66	APN	5	73,766,077 (GRCm39)	missense	possibly damaging	0.83
IGL02166:Lrrc66	APN	5	73,764,634 (GRCm39)	missense	probably damaging	0.99
IGL02380:Lrrc66	APN	5	73,787,009 (GRCm39)	missense	possibly damaging	0.55
IGL03162:Lrrc66	APN	5	73,764,725 (GRCm39)	missense	probably benign
BB002:Lrrc66	UTSW	5	73,765,835 (GRCm39)	missense	possibly damaging	0.81
BB012:Lrrc66	UTSW	5	73,765,835 (GRCm39)	missense	possibly damaging	0.81
D4043:Lrrc66	UTSW	5	73,764,869 (GRCm39)	missense	probably benign	0.03
R0126:Lrrc66	UTSW	5	73,764,431 (GRCm39)	missense	probably benign	0.10
R0437:Lrrc66	UTSW	5	73,765,030 (GRCm39)	missense	probably benign	0.23
R0638:Lrrc66	UTSW	5	73,772,816 (GRCm39)	splice site	probably benign
R0658:Lrrc66	UTSW	5	73,768,287 (GRCm39)	missense	probably benign	0.40
R0729:Lrrc66	UTSW	5	73,765,757 (GRCm39)	missense	probably benign
R1603:Lrrc66	UTSW	5	73,764,769 (GRCm39)	missense	possibly damaging	0.61
R1774:Lrrc66	UTSW	5	73,768,198 (GRCm39)	missense	probably benign	0.16
R1831:Lrrc66	UTSW	5	73,764,769 (GRCm39)	missense	possibly damaging	0.61
R1832:Lrrc66	UTSW	5	73,764,769 (GRCm39)	missense	possibly damaging	0.61
R1902:Lrrc66	UTSW	5	73,764,965 (GRCm39)	missense	probably damaging	0.99
R2858:Lrrc66	UTSW	5	73,764,646 (GRCm39)	missense	probably benign	0.08
R4097:Lrrc66	UTSW	5	73,765,047 (GRCm39)	missense	possibly damaging	0.94
R4164:Lrrc66	UTSW	5	73,787,119 (GRCm39)	splice site	probably null
R4582:Lrrc66	UTSW	5	73,765,580 (GRCm39)	missense	possibly damaging	0.94
R4708:Lrrc66	UTSW	5	73,787,005 (GRCm39)	missense	probably benign	0.06
R4856:Lrrc66	UTSW	5	73,765,910 (GRCm39)	missense	probably benign	0.10
R4886:Lrrc66	UTSW	5	73,765,910 (GRCm39)	missense	probably benign	0.10
R5074:Lrrc66	UTSW	5	73,765,354 (GRCm39)	missense	probably damaging	1.00
R5464:Lrrc66	UTSW	5	73,765,622 (GRCm39)	missense	probably benign	0.05
R5640:Lrrc66	UTSW	5	73,765,977 (GRCm39)	missense	probably benign	0.00
R5709:Lrrc66	UTSW	5	73,766,206 (GRCm39)	missense	probably benign
R5811:Lrrc66	UTSW	5	73,772,860 (GRCm39)	missense	possibly damaging	0.82
R6146:Lrrc66	UTSW	5	73,765,432 (GRCm39)	missense	probably benign	0.10
R7037:Lrrc66	UTSW	5	73,764,504 (GRCm39)	missense	probably benign	0.10
R7041:Lrrc66	UTSW	5	73,765,899 (GRCm39)	missense	possibly damaging	0.81
R7141:Lrrc66	UTSW	5	73,787,320 (GRCm39)	missense	probably benign	0.10
R7201:Lrrc66	UTSW	5	73,787,240 (GRCm39)	missense	probably benign	0.11
R7250:Lrrc66	UTSW	5	73,768,224 (GRCm39)	missense	probably benign	0.03
R7367:Lrrc66	UTSW	5	73,765,724 (GRCm39)	missense	probably benign	0.13
R7773:Lrrc66	UTSW	5	73,764,664 (GRCm39)	missense	probably damaging	0.98
R7925:Lrrc66	UTSW	5	73,765,835 (GRCm39)	missense	possibly damaging	0.81
R8057:Lrrc66	UTSW	5	73,764,875 (GRCm39)	nonsense	probably null
R8167:Lrrc66	UTSW	5	73,786,952 (GRCm39)	nonsense	probably null
R8552:Lrrc66	UTSW	5	73,768,228 (GRCm39)	missense	probably benign	0.16
R8834:Lrrc66	UTSW	5	73,765,928 (GRCm39)	missense	possibly damaging	0.56
R8992:Lrrc66	UTSW	5	73,787,227 (GRCm39)	missense	probably benign	0.04
R9017:Lrrc66	UTSW	5	73,765,244 (GRCm39)	missense	possibly damaging	0.94
R9051:Lrrc66	UTSW	5	73,765,268 (GRCm39)	missense	probably benign	0.00
R9051:Lrrc66	UTSW	5	73,765,267 (GRCm39)	missense	probably benign	0.05

Posted On

2014-02-04