Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00499:Lrrc30'

3436

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc30

Ensembl Gene

ENSMUSG00000073375

Gene Name

leucine rich repeat containing 30

Synonyms

LOC240131

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00499

Quality Score

Status

Chromosome

Chromosomal Location

67937960-67939718 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67939034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 182 (F182S)

Ref Sequence

ENSEMBL: ENSMUSP00000094893 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097290]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000097290
AA Change: F182S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094893
Gene: ENSMUSG00000073375
AA Change: F182S

Domain	Start	End	E-Value	Type
LRR_TYP	69	92	1.67e-2	SMART
LRR	115	138	1.73e0	SMART
LRR	139	160	1.91e1	SMART
LRR_TYP	161	184	2.53e-2	SMART
Blast:LRR	207	229	1e-5	BLAST
LRR	230	253	3.29e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	C	A	10: 70,711,138 (GRCm39)		noncoding transcript	Het
Abcb9	T	C	5: 124,215,301 (GRCm39)	D480G	possibly damaging	Het
Adam26a	A	T	8: 44,021,896 (GRCm39)	N531K	possibly damaging	Het
AW554918	A	T	18: 25,553,122 (GRCm39)	K542*	probably null	Het
Blk	A	G	14: 63,618,169 (GRCm39)	F246L	probably damaging	Het
Camk1	T	C	6: 113,313,172 (GRCm39)	E292G	probably benign	Het
Ccdc88a	C	T	11: 29,449,341 (GRCm39)	T261I	probably benign	Het
Cep290	A	T	10: 100,379,189 (GRCm39)	Q57L	probably damaging	Het
Cpsf1	A	T	15: 76,484,416 (GRCm39)	H688Q	probably benign	Het
Cryz	T	C	3: 154,310,579 (GRCm39)	V13A	possibly damaging	Het
Dst	A	G	1: 34,329,504 (GRCm39)	K6858R	probably damaging	Het
Dync2h1	A	T	9: 7,168,700 (GRCm39)	V371E	possibly damaging	Het
Eps8	C	A	6: 137,499,886 (GRCm39)	E181*	probably null	Het
Flt4	T	C	11: 49,526,088 (GRCm39)	I796T	probably damaging	Het
Gmps	A	G	3: 63,921,788 (GRCm39)	N597S	probably benign	Het
Itgav	T	A	2: 83,633,339 (GRCm39)	M1011K	probably damaging	Het
Kif16b	A	G	2: 142,699,244 (GRCm39)	M112T	probably damaging	Het
Lig1	T	C	7: 13,032,756 (GRCm39)		probably null	Het
Oxsm	A	T	14: 16,242,076 (GRCm38)	M231K	probably damaging	Het
Pnisr	T	C	4: 21,870,407 (GRCm39)		probably null	Het
Rsrc1	A	T	3: 66,989,933 (GRCm39)		probably benign	Het
Setd1b	A	T	5: 123,296,810 (GRCm39)		probably benign	Het
Tbx6	A	G	7: 126,380,701 (GRCm39)	Y8C	probably damaging	Het
Tmem33	T	C	5: 67,441,538 (GRCm39)	Y196H	probably damaging	Het
Traf5	T	C	1: 191,741,589 (GRCm39)	D96G	possibly damaging	Het
Tsc22d1	T	A	14: 76,656,357 (GRCm39)	D945E	probably damaging	Het
Tubb2b	T	C	13: 34,312,329 (GRCm39)	I155V	probably benign	Het
Usp13	T	A	3: 32,935,560 (GRCm39)	Y328N	probably damaging	Het
Usp17lc	G	A	7: 103,067,673 (GRCm39)	D323N	probably damaging	Het
Usp17lc	G	A	7: 103,067,672 (GRCm39)	M322I	probably damaging	Het
Zfp341	C	T	2: 154,476,151 (GRCm39)	T446I	probably damaging	Het
Zfp407	A	G	18: 84,579,877 (GRCm39)	L412P	probably damaging	Het
Zfp521	T	A	18: 14,072,177 (GRCm39)	D21V	probably benign	Het
Zranb1	A	G	7: 132,584,233 (GRCm39)		probably benign	Het

Other mutations in Lrrc30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00957:Lrrc30	APN	17	67,939,499 (GRCm39)	missense	probably benign	0.00
IGL02500:Lrrc30	APN	17	67,938,857 (GRCm39)	missense	probably damaging	1.00
R1666:Lrrc30	UTSW	17	67,939,200 (GRCm39)	missense	probably benign	0.39
R1769:Lrrc30	UTSW	17	67,938,676 (GRCm39)	makesense	probably null
R2079:Lrrc30	UTSW	17	67,938,875 (GRCm39)	missense	possibly damaging	0.80
R3405:Lrrc30	UTSW	17	67,939,175 (GRCm39)	missense	probably damaging	1.00
R3406:Lrrc30	UTSW	17	67,939,175 (GRCm39)	missense	probably damaging	1.00
R4301:Lrrc30	UTSW	17	67,939,563 (GRCm39)	missense	probably damaging	1.00
R6399:Lrrc30	UTSW	17	67,939,681 (GRCm39)	start gained	probably benign
R6469:Lrrc30	UTSW	17	67,938,860 (GRCm39)	missense	probably benign
R7079:Lrrc30	UTSW	17	67,939,016 (GRCm39)	missense	possibly damaging	0.96
R7454:Lrrc30	UTSW	17	67,939,238 (GRCm39)	missense	probably damaging	0.97
R7611:Lrrc30	UTSW	17	67,939,424 (GRCm39)	missense	probably damaging	0.97
R7642:Lrrc30	UTSW	17	67,939,472 (GRCm39)	missense	probably damaging	1.00
R8512:Lrrc30	UTSW	17	67,938,947 (GRCm39)	missense	probably damaging	0.99
R9059:Lrrc30	UTSW	17	67,938,798 (GRCm39)	missense	probably damaging	1.00
R9198:Lrrc30	UTSW	17	67,938,854 (GRCm39)	missense	probably benign	0.34
R9638:Lrrc30	UTSW	17	67,939,226 (GRCm39)	missense	probably damaging	0.99
X0027:Lrrc30	UTSW	17	67,939,454 (GRCm39)	missense	probably damaging	1.00
Z1088:Lrrc30	UTSW	17	67,938,690 (GRCm39)	missense	possibly damaging	0.93
Z1176:Lrrc30	UTSW	17	67,939,431 (GRCm39)	missense	probably benign	0.00

Posted On

2012-04-20