Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02228:Lrrc8d'

285400

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc8d

Ensembl Gene

ENSMUSG00000046079

Gene Name

leucine rich repeat containing 8D

Synonyms

Lrrc5, 2810473G09Rik, 4930525N13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02228

Quality Score

Status

Chromosome

Chromosomal Location

105699969-105832436 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105811864 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 47 (L47F)

Ref Sequence

ENSEMBL: ENSMUSP00000114662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060531] [ENSMUST00000120847] [ENSMUST00000127686] [ENSMUST00000154807] [ENSMUST00000156630]

AlphaFold

Q8BGR2

Predicted Effect

probably benign
Transcript: ENSMUST00000060531
AA Change: L47F

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: L47F

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	5.6e-31	PFAM
Pfam:DUF3733	138	197	2e-24	PFAM
transmembrane domain	366	388	N/A	INTRINSIC
internal_repeat_1	490	607	1.13e-8	PROSPERO
LRR	658	681	1.23e0	SMART
LRR	683	705	2.03e1	SMART
LRR_TYP	706	729	9.58e-3	SMART
LRR	730	751	2.47e2	SMART
LRR	752	775	1.76e-1	SMART
LRR	776	797	1.01e2	SMART
LRR	798	821	3.29e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120847
AA Change: L47F

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: L47F

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	385	2.2e-160	PFAM
internal_repeat_1	490	607	1.13e-8	PROSPERO
LRR	658	681	1.23e0	SMART
LRR	683	705	2.03e1	SMART
LRR_TYP	706	729	9.58e-3	SMART
LRR	730	751	2.47e2	SMART
LRR	752	775	1.76e-1	SMART
LRR	776	797	1.01e2	SMART
LRR	798	821	3.29e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149831

Predicted Effect

probably benign
Transcript: ENSMUST00000154807
AA Change: L47F

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114662
Gene: ENSMUSG00000046079
AA Change: L47F

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	1.8e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156630

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
Acot1	T	C	12: 84,016,964	V282A	probably benign	Het
Acsm5	A	G	7: 119,531,866	D169G	probably damaging	Het
Adam8	C	T	7: 139,988,806		probably null	Het
Agpat1	T	C	17: 34,610,562	F37L	possibly damaging	Het
Asah2	A	T	19: 32,016,714	D410E	probably benign	Het
Atg2a	T	A	19: 6,246,800	V378D	probably benign	Het
Atp1a4	T	C	1: 172,254,885	Y130C	possibly damaging	Het
B020004J07Rik	T	C	4: 101,836,858	Y276C	probably benign	Het
Bnc2	T	C	4: 84,293,076	H419R	possibly damaging	Het
Capza3	A	G	6: 140,041,915	D80G	probably benign	Het
Col6a4	C	T	9: 106,068,078	D946N	probably benign	Het
Crat	T	C	2: 30,413,182	H31R	probably damaging	Het
Dsc2	A	G	18: 20,043,733	V419A	probably damaging	Het
Ebf1	T	C	11: 44,972,912	V363A	probably damaging	Het
Gm13119	A	G	4: 144,362,661	K183R	probably damaging	Het
Lcp2	T	C	11: 34,047,424	F24S	probably damaging	Het
Lgmn	G	A	12: 102,395,714	T376I	probably benign	Het
Mier1	T	A	4: 103,131,062	M44K	possibly damaging	Het
Ogfod1	C	A	8: 94,062,987	Q439K	probably benign	Het
Olfr303	A	C	7: 86,395,078	I140S	possibly damaging	Het
Pcgf6	A	C	19: 47,047,982	F216C	probably damaging	Het
Pcnt	C	T	10: 76,389,474	R1732K	probably benign	Het
Rbbp4	A	T	4: 129,317,750	H370Q	probably damaging	Het
Reln	A	G	5: 21,904,731	V3127A	probably damaging	Het
Rttn	T	A	18: 89,042,231	V1019E	probably damaging	Het
Serpina9	C	T	12: 104,008,600	R98Q	probably benign	Het
Slc16a7	C	A	10: 125,230,798	G324V	probably damaging	Het
Slc22a3	A	G	17: 12,459,810	L209P	probably damaging	Het
Tet1	T	A	10: 62,813,734	T1695S	probably damaging	Het
Tulp3	G	A	6: 128,334,485	T74M	probably damaging	Het
Ube3a	A	G	7: 59,288,396		probably benign	Het
Ufl1	A	T	4: 25,281,686	S23T	probably benign	Het
Unc80	A	G	1: 66,608,428	E1509G	possibly damaging	Het
Wnk2	A	T	13: 49,056,940	I1801N	probably damaging	Het

Other mutations in Lrrc8d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Lrrc8d	APN	5	105811952	missense	possibly damaging	0.60
IGL01327:Lrrc8d	APN	5	105812265	missense	probably damaging	1.00
IGL02148:Lrrc8d	APN	5	105812387	missense	possibly damaging	0.92
IGL02551:Lrrc8d	APN	5	105813548	missense	possibly damaging	0.78
IGL02605:Lrrc8d	APN	5	105826817	intron	noncoding transcript
heehaw	UTSW	5	105813091	missense	probably damaging	1.00
hoot	UTSW	5	105811760	missense	probably damaging	1.00
BB009:Lrrc8d	UTSW	5	105813025	missense	probably damaging	1.00
BB019:Lrrc8d	UTSW	5	105813025	missense	probably damaging	1.00
R0415:Lrrc8d	UTSW	5	105811865	missense	probably damaging	1.00
R1424:Lrrc8d	UTSW	5	105826916	missense	unknown
R1754:Lrrc8d	UTSW	5	105812657	missense	probably benign
R3411:Lrrc8d	UTSW	5	105826706	intron	noncoding transcript
R3605:Lrrc8d	UTSW	5	105827007	missense	unknown
R3705:Lrrc8d	UTSW	5	105813475	missense	probably damaging	1.00
R3798:Lrrc8d	UTSW	5	105812489	missense	probably benign	0.12
R3951:Lrrc8d	UTSW	5	105814276	missense	probably benign	0.00
R4300:Lrrc8d	UTSW	5	105813740	missense	probably damaging	0.99
R4953:Lrrc8d	UTSW	5	105813368	missense	probably damaging	1.00
R5211:Lrrc8d	UTSW	5	105813740	missense	probably damaging	0.99
R5436:Lrrc8d	UTSW	5	105812552	missense	probably damaging	0.98
R5512:Lrrc8d	UTSW	5	105812784	missense	probably damaging	1.00
R5512:Lrrc8d	UTSW	5	105812785	missense	probably benign	0.00
R5514:Lrrc8d	UTSW	5	105812784	missense	probably damaging	1.00
R5514:Lrrc8d	UTSW	5	105812785	missense	probably benign	0.00
R5531:Lrrc8d	UTSW	5	105797670	intron	probably benign
R5929:Lrrc8d	UTSW	5	105812606	missense	probably damaging	0.98
R6063:Lrrc8d	UTSW	5	105812126	missense	probably benign	0.01
R6379:Lrrc8d	UTSW	5	105812809	missense	probably benign	0.08
R6431:Lrrc8d	UTSW	5	105811760	missense	probably damaging	1.00
R7127:Lrrc8d	UTSW	5	105812963	missense	probably damaging	1.00
R7682:Lrrc8d	UTSW	5	105812791	missense	probably damaging	1.00
R7821:Lrrc8d	UTSW	5	105812344	missense	probably damaging	1.00
R7932:Lrrc8d	UTSW	5	105813025	missense	probably damaging	1.00
R8528:Lrrc8d	UTSW	5	105812486	missense	probably benign	0.22
R8976:Lrrc8d	UTSW	5	105813091	missense	probably damaging	1.00
R9063:Lrrc8d	UTSW	5	105814093	missense	probably damaging	0.97
R9116:Lrrc8d	UTSW	5	105814042	missense	probably damaging	1.00
R9211:Lrrc8d	UTSW	5	105812350	missense	probably damaging	1.00
R9358:Lrrc8d	UTSW	5	105812492	missense	probably benign	0.01
R9388:Lrrc8d	UTSW	5	105813996	missense	probably damaging	0.97
R9796:Lrrc8d	UTSW	5	105812051	missense	probably benign	0.01
RF003:Lrrc8d	UTSW	5	105812641	missense	probably damaging	1.00
X0024:Lrrc8d	UTSW	5	105811745	missense	probably damaging	0.99

Posted On

2015-04-16