Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01419:Lrrc8a'

80320

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lrrc8a

Ensembl Gene

ENSMUSG00000007476

Gene Name

leucine rich repeat containing 8A VRAC subunit A

Synonyms

ebo, Lrrc8, SWELL1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01419

Quality Score

Status

Chromosome

Chromosomal Location

30127781-30153802 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30147111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 642 (T642A)

Ref Sequence

ENSEMBL: ENSMUSP00000139038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095078] [ENSMUST00000113654] [ENSMUST00000139454]

AlphaFold

Q80WG5

Predicted Effect

probably benign
Transcript: ENSMUST00000095078
AA Change: T642A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000092690
Gene: ENSMUSG00000007476
AA Change: T642A

Domain	Start	End	E-Value	Type
Pfam:Pannexin_like	1	340	1.4e-146	PFAM
low complexity region	445	455	N/A	INTRINSIC
internal_repeat_1	461	526	7.6e-5	PROSPERO
low complexity region	540	558	N/A	INTRINSIC
LRR	590	613	5.41e0	SMART
LRR	614	636	3.18e2	SMART
LRR	638	660	6.78e1	SMART
LRR_TYP	661	684	1.06e-4	SMART
LRR	685	706	1.15e1	SMART
LRR_TYP	707	730	1.92e-2	SMART
LRR	731	751	1.81e2	SMART
LRR	753	776	2.02e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113654
AA Change: T642A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109284
Gene: ENSMUSG00000007476
AA Change: T642A

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	3.3e-32	PFAM
Pfam:DUF3733	97	156	2e-22	PFAM
transmembrane domain	320	342	N/A	INTRINSIC
low complexity region	445	455	N/A	INTRINSIC
internal_repeat_1	461	526	7.6e-5	PROSPERO
low complexity region	540	558	N/A	INTRINSIC
LRR	590	613	5.41e0	SMART
LRR	614	636	3.18e2	SMART
LRR	638	660	6.78e1	SMART
LRR_TYP	661	684	1.06e-4	SMART
LRR	685	706	1.15e1	SMART
LRR_TYP	707	730	1.92e-2	SMART
LRR	731	751	1.81e2	SMART
LRR	753	776	2.02e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139454
AA Change: T642A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041
AA Change: T642A

Domain	Start	End	E-Value	Type
Pfam:DUF3733	1	65	3.3e-32	PFAM
Pfam:DUF3733	97	156	2e-22	PFAM
transmembrane domain	320	342	N/A	INTRINSIC
low complexity region	445	455	N/A	INTRINSIC
internal_repeat_1	461	526	7.6e-5	PROSPERO
low complexity region	540	558	N/A	INTRINSIC
LRR	590	613	5.41e0	SMART
LRR	614	636	3.18e2	SMART
LRR	638	660	6.78e1	SMART
LRR_TYP	661	684	1.06e-4	SMART
LRR	685	706	1.15e1	SMART
LRR_TYP	707	730	1.92e-2	SMART
LRR	731	751	1.81e2	SMART
LRR	753	776	2.02e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous for a knock-out allele exhibit prenatal lethality and premature death, growth retardation, sterility, multiple tissue abnormalities, a severe block in early thymic development, and impaired peripheral T cell function. B cell development is modestly impaired but B cell function is normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	T	2: 25,327,526 (GRCm39)	T672S	probably damaging	Het
Adamts14	A	T	10: 61,041,321 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,705,277 (GRCm39)	E791G	probably damaging	Het
Alkbh8	A	G	9: 3,385,354 (GRCm39)	R584G	probably damaging	Het
Apob	A	T	12: 8,052,251 (GRCm39)	I1218F	probably damaging	Het
Atp5f1a	T	C	18: 77,865,233 (GRCm39)	S52P	probably damaging	Het
B4galnt3	A	G	6: 120,192,351 (GRCm39)	S462P	possibly damaging	Het
Bdkrb1	A	G	12: 105,571,040 (GRCm39)	H202R	possibly damaging	Het
Bltp1	T	C	3: 37,102,270 (GRCm39)	S1323P	probably damaging	Het
Cd300lf	T	C	11: 115,017,180 (GRCm39)	K48E	probably benign	Het
Cfhr4	T	C	1: 139,667,382 (GRCm39)		probably null	Het
Chuk	A	T	19: 44,085,420 (GRCm39)	I242K	probably damaging	Het
Csde1	A	G	3: 102,946,086 (GRCm39)	T27A	probably damaging	Het
D930048N14Rik	C	T	11: 51,545,603 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,552,455 (GRCm39)	Y451N	possibly damaging	Het
Diaph3	C	A	14: 87,202,989 (GRCm39)	G623*	probably null	Het
Dlc1	T	C	8: 37,317,371 (GRCm39)	T435A	probably benign	Het
Dock8	A	G	19: 25,096,816 (GRCm39)	S575G	probably benign	Het
Fbxw22	T	A	9: 109,210,790 (GRCm39)	Y407F	probably benign	Het
Fzd4	C	A	7: 89,056,943 (GRCm39)	A330E	probably damaging	Het
Gm17415	A	G	1: 93,349,672 (GRCm39)		probably benign	Het
Gnat1	C	T	9: 107,556,633 (GRCm39)		probably null	Het
Gtf3c4	T	C	2: 28,725,081 (GRCm39)	Y76C	probably damaging	Het
Heatr5b	G	A	17: 79,103,939 (GRCm39)	H1079Y	probably benign	Het
Helz	T	G	11: 107,577,340 (GRCm39)	I1897S	unknown	Het
Hspa12a	T	C	19: 58,816,681 (GRCm39)		probably null	Het
Kcne1	G	T	16: 92,145,534 (GRCm39)	F103L	probably benign	Het
Lrrc20	A	T	10: 61,383,874 (GRCm39)	S94C	probably damaging	Het
Ly6g5b	A	G	17: 35,333,494 (GRCm39)	L106P	probably benign	Het
Lyst	A	G	13: 13,810,423 (GRCm39)	S698G	probably benign	Het
Ndrg1	A	G	15: 66,802,900 (GRCm39)	V334A	probably benign	Het
Neb	A	T	2: 52,116,545 (GRCm39)	Y964*	probably null	Het
Or4c123	T	C	2: 89,126,689 (GRCm39)		probably benign	Het
Or8k3	A	T	2: 86,058,973 (GRCm39)	I114N	possibly damaging	Het
Parp10	A	G	15: 76,125,588 (GRCm39)	F497L	probably damaging	Het
Pdss1	A	G	2: 22,825,589 (GRCm39)	M343V	possibly damaging	Het
Phactr3	C	T	2: 177,920,855 (GRCm39)	T231I	probably benign	Het
Plekhh2	A	T	17: 84,890,980 (GRCm39)		probably benign	Het
Ppp1r12c	A	C	7: 4,489,351 (GRCm39)		probably null	Het
Prdm2	G	T	4: 142,860,218 (GRCm39)	P1024H	probably damaging	Het
Prkacb	A	T	3: 146,461,448 (GRCm39)	M1K	probably null	Het
Prkdc	C	A	16: 15,653,030 (GRCm39)	P3835Q	probably damaging	Het
Rps27a	T	C	11: 29,496,353 (GRCm39)	T87A	probably benign	Het
Ryr2	T	A	13: 11,814,723 (GRCm39)	E683V	possibly damaging	Het
Sbk2	A	G	7: 4,960,528 (GRCm39)	L214P	probably damaging	Het
Sema4g	A	G	19: 44,985,835 (GRCm39)	S250G	probably benign	Het
Slc27a6	T	A	18: 58,742,281 (GRCm39)	D498E	probably benign	Het
Tarbp1	T	C	8: 127,154,894 (GRCm39)	D1410G	probably benign	Het
Tas2r134	T	A	2: 51,517,759 (GRCm39)	Y79*	probably null	Het
Tie1	T	C	4: 118,333,295 (GRCm39)	D857G	probably damaging	Het
Tnk2	A	G	16: 32,499,498 (GRCm39)	N432S	probably damaging	Het
Tubg2	C	A	11: 101,049,883 (GRCm39)	D176E	probably benign	Het
Ugt2b34	A	T	5: 87,039,264 (GRCm39)	W466R	probably damaging	Het
Usp47	T	A	7: 111,687,118 (GRCm39)	M692K	possibly damaging	Het
Vmn2r106	T	C	17: 20,499,807 (GRCm39)	K143E	probably benign	Het
Vmn2r118	G	A	17: 55,900,000 (GRCm39)	L635F	probably benign	Het
Vmn2r16	C	T	5: 109,510,267 (GRCm39)		probably benign	Het
Vmn2r76	A	T	7: 85,874,910 (GRCm39)	M689K	probably benign	Het
Xkr6	T	C	14: 64,056,325 (GRCm39)	Y79H	probably benign	Het
Zdhhc6	A	G	19: 55,298,186 (GRCm39)	F224L	probably benign	Het
Zfp493	T	G	13: 67,934,921 (GRCm39)	I291M	probably benign	Het

Other mutations in Lrrc8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Lrrc8a	APN	2	30,145,327 (GRCm39)	missense	probably benign	0.32
IGL01161:Lrrc8a	APN	2	30,145,822 (GRCm39)	missense	probably damaging	1.00
IGL01757:Lrrc8a	APN	2	30,145,537 (GRCm39)	missense	possibly damaging	0.81
IGL02390:Lrrc8a	APN	2	30,146,713 (GRCm39)	missense	probably damaging	1.00
IGL02608:Lrrc8a	APN	2	30,146,311 (GRCm39)	missense	possibly damaging	0.91
IGL02938:Lrrc8a	APN	2	30,145,698 (GRCm39)	missense	probably damaging	1.00
IGL02960:Lrrc8a	APN	2	30,147,025 (GRCm39)	missense	probably damaging	1.00
IGL03139:Lrrc8a	APN	2	30,145,683 (GRCm39)	missense	probably damaging	1.00
IGL03166:Lrrc8a	APN	2	30,145,377 (GRCm39)	missense	probably benign
R0033:Lrrc8a	UTSW	2	30,145,357 (GRCm39)	missense	probably damaging	1.00
R0033:Lrrc8a	UTSW	2	30,145,357 (GRCm39)	missense	probably damaging	1.00
R0276:Lrrc8a	UTSW	2	30,146,800 (GRCm39)	missense	possibly damaging	0.54
R0432:Lrrc8a	UTSW	2	30,147,079 (GRCm39)	missense	probably damaging	1.00
R0751:Lrrc8a	UTSW	2	30,146,362 (GRCm39)	missense	possibly damaging	0.82
R1924:Lrrc8a	UTSW	2	30,145,262 (GRCm39)	missense	probably damaging	1.00
R2029:Lrrc8a	UTSW	2	30,146,661 (GRCm39)	missense	probably damaging	1.00
R3852:Lrrc8a	UTSW	2	30,151,972 (GRCm39)	missense	probably benign	0.30
R4898:Lrrc8a	UTSW	2	30,147,214 (GRCm39)	missense	probably benign	0.00
R5175:Lrrc8a	UTSW	2	30,145,524 (GRCm39)	missense	probably damaging	1.00
R5616:Lrrc8a	UTSW	2	30,145,366 (GRCm39)	missense	probably benign	0.09
R5874:Lrrc8a	UTSW	2	30,147,148 (GRCm39)	missense	probably damaging	1.00
R6228:Lrrc8a	UTSW	2	30,146,565 (GRCm39)	missense	possibly damaging	0.82
R6406:Lrrc8a	UTSW	2	30,147,103 (GRCm39)	missense	possibly damaging	0.56
R6456:Lrrc8a	UTSW	2	30,145,486 (GRCm39)	missense	probably benign	0.14
R6833:Lrrc8a	UTSW	2	30,145,659 (GRCm39)	missense	possibly damaging	0.92
R6834:Lrrc8a	UTSW	2	30,145,659 (GRCm39)	missense	possibly damaging	0.92
R6945:Lrrc8a	UTSW	2	30,146,239 (GRCm39)	missense	probably damaging	1.00
R7675:Lrrc8a	UTSW	2	30,145,680 (GRCm39)	missense	probably damaging	1.00
R8500:Lrrc8a	UTSW	2	30,146,208 (GRCm39)	missense	possibly damaging	0.65
R8528:Lrrc8a	UTSW	2	30,145,557 (GRCm39)	missense	probably damaging	1.00
R8734:Lrrc8a	UTSW	2	30,146,619 (GRCm39)	missense	probably benign	0.12
R8879:Lrrc8a	UTSW	2	30,146,310 (GRCm39)	missense	probably benign	0.16
R9112:Lrrc8a	UTSW	2	30,145,782 (GRCm39)	missense	probably damaging	0.99
R9130:Lrrc8a	UTSW	2	30,147,042 (GRCm39)	missense	possibly damaging	0.82
R9456:Lrrc8a	UTSW	2	30,145,663 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrc8a	UTSW	2	30,146,325 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05