Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01327:Lrrc8d'

74308

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

105699969-105832436 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105812265 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 180 (S180R)

Ref Sequence

ENSEMBL: ENSMUSP00000113603 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000060531
AA Change: S180R

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

SMART Domains

Protein: ENSMUSP00000057293
Gene: ENSMUSG00000046079
AA Change: S180R

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 damaging
Transcript: ENSMUST00000120847
AA Change: S180R

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

SMART Domains

Protein: ENSMUSP00000113603
Gene: ENSMUSG00000046079
AA Change: S180R

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

SMART Domains

Protein: ENSMUSP00000114662
Gene: ENSMUSG00000046079

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 147,945,064	V497E	probably damaging	Het
4930563D23Rik	T	C	16: 92,320,773	Y209C	probably benign	Het
Adcy7	T	G	8: 88,318,790		probably benign	Het
Aldh1a2	T	A	9: 71,285,966	F486I	possibly damaging	Het
Alox12	T	A	11: 70,254,549	H66L	probably benign	Het
Apoh	T	G	11: 108,397,361	Y102D	probably damaging	Het
Arl9	T	C	5: 77,006,554	V43A	possibly damaging	Het
Atf6	A	G	1: 170,788,606		probably null	Het
Atp4a	T	A	7: 30,713,250	I127N	possibly damaging	Het
AY358078	T	A	14: 51,805,709		probably benign	Het
Baat	T	G	4: 49,490,338	K249Q	probably damaging	Het
Brat1	C	T	5: 140,718,208	Q739*	probably null	Het
C8g	A	G	2: 25,499,077	F165L	probably damaging	Het
Cel	T	G	2: 28,557,955	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,710,979	T803K	unknown	Het
Cpxm1	A	G	2: 130,396,357	L95P	probably benign	Het
Ctsr	A	G	13: 61,162,675		probably benign	Het
Cyth1	A	G	11: 118,193,613		probably null	Het
Dync1h1	A	T	12: 110,616,692		probably benign	Het
Ezh1	C	T	11: 101,203,436	C407Y	probably damaging	Het
Gm3696	A	T	14: 7,090,701	W38R	probably benign	Het
Gm9611	T	C	14: 42,294,665	T39A	possibly damaging	Het
Gnpat	T	A	8: 124,878,633	L287H	probably damaging	Het
Golm1	G	T	13: 59,645,144	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,931,774	M899V	probably benign	Het
Hsf3	T	A	X: 96,314,972	M272L	probably benign	Het
Kif19a	C	T	11: 114,781,799		probably benign	Het
Lcn2	T	G	2: 32,386,018	Y100S	possibly damaging	Het
Ly6h	A	G	15: 75,565,099		probably benign	Het
Macf1	T	C	4: 123,509,912	N705D	probably benign	Het
Mst1r	C	T	9: 107,907,844	P234S	probably benign	Het
Msto1	T	A	3: 88,910,632		probably null	Het
Myo5a	T	A	9: 75,187,538		probably benign	Het
Nipa1	T	C	7: 55,979,661	I235V	probably benign	Het
Nlgn3	T	C	X: 101,318,622	V399A	probably benign	Het
Olfr1367	A	G	13: 21,347,207	N93S	probably benign	Het
Olfr412	T	A	11: 74,364,912	M81K	possibly damaging	Het
Pih1d1	T	C	7: 45,159,975	S289P	probably benign	Het
Ppl	T	C	16: 5,087,644	N1596D	probably benign	Het
Psmb6	T	A	11: 70,526,586	S114R	possibly damaging	Het
Pum1	C	A	4: 130,730,543	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,355,251	I75V	probably benign	Het
Slc24a3	T	A	2: 145,602,558	I284N	probably benign	Het
Slc44a3	C	T	3: 121,527,193	G53D	probably damaging	Het
Slc9a4	A	C	1: 40,629,405	D736A	probably benign	Het
Stra6	A	G	9: 58,152,571	D605G	probably benign	Het
Tas2r126	T	A	6: 42,434,750	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,653,112	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,720,702	G14R	probably benign	Het
Ticrr	C	T	7: 79,694,461	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,348,479	N518K	probably benign	Het
Trpm4	C	A	7: 45,315,073	W533C	probably damaging	Het
Tsen54	T	C	11: 115,821,712	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,327,634	T219M	probably damaging	Het
Usp19	T	C	9: 108,498,961	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,437,696	Y43F	probably benign	Het
Vsig1	T	A	X: 140,937,680	V283E	possibly 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
IGL02148:Lrrc8d	APN	5	105812387	missense	possibly damaging	0.92
IGL02228:Lrrc8d	APN	5	105811864	missense	probably benign	0.44
IGL02551:Lrrc8d	APN	5	105813548	missense	possibly damaging	0.78
IGL02605:Lrrc8d	APN	5	105826817	intron	noncoding transcript
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
RF003:Lrrc8d	UTSW	5	105812641	missense	probably damaging	1.00
X0024:Lrrc8d	UTSW	5	105811745	missense	probably damaging	0.99

Posted On

2013-10-07