Incidental Mutation 'IGL02938:Lrrc8a'
| ID |
364401 |
| 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)
|
| Stock # |
IGL02938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30127781-30153802 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30145698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 171
(R171W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139038
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095078]
[ENSMUST00000113654]
[ENSMUST00000139454]
|
| AlphaFold |
Q80WG5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095078
AA Change: R171W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092690
Gene: ENSMUSG00000007476
AA Change: R171W
| 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 damaging
Transcript: ENSMUST00000113654
AA Change: R171W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109284
Gene: ENSMUSG00000007476
AA Change: R171W
| 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 damaging
Transcript: ENSMUST00000139454
AA Change: R171W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139038
Gene: ENSMUSG00000099041
AA Change: R171W
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,180,979 (GRCm39) |
T1152A |
possibly damaging |
Het |
| Adgra3 |
T |
C |
5: 50,118,659 (GRCm39) |
D963G |
probably benign |
Het |
| Adrm1 |
T |
A |
2: 179,817,395 (GRCm39) |
D287E |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,072,831 (GRCm39) |
D396G |
probably damaging |
Het |
| Ankle1 |
C |
T |
8: 71,858,896 (GRCm39) |
A43V |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,448,281 (GRCm39) |
I1692V |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,802 (GRCm39) |
V588A |
probably benign |
Het |
| Ccdc62 |
T |
A |
5: 124,072,247 (GRCm39) |
V4E |
probably benign |
Het |
| Cdh16 |
A |
T |
8: 105,343,561 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,696 (GRCm39) |
C276S |
probably damaging |
Het |
| Cyp2c29 |
T |
A |
19: 39,275,567 (GRCm39) |
D2E |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,035 (GRCm39) |
V277E |
possibly damaging |
Het |
| Defa35 |
C |
T |
8: 21,555,930 (GRCm39) |
|
probably benign |
Het |
| Dhx9 |
A |
T |
1: 153,340,376 (GRCm39) |
D707E |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,852,669 (GRCm39) |
S28P |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,994,667 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,928,365 (GRCm39) |
|
probably benign |
Het |
| Egln1 |
A |
G |
8: 125,640,754 (GRCm39) |
|
probably null |
Het |
| Esr1 |
T |
A |
10: 4,733,872 (GRCm39) |
M224K |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,615,109 (GRCm39) |
I279T |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,897,285 (GRCm39) |
I478T |
probably benign |
Het |
| Glb1l3 |
A |
G |
9: 26,738,055 (GRCm39) |
V368A |
probably benign |
Het |
| Gltpd2 |
T |
C |
11: 70,410,637 (GRCm39) |
F5S |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,577,264 (GRCm39) |
E1872K |
unknown |
Het |
| Irak3 |
A |
G |
10: 120,018,429 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
A |
T |
12: 4,747,216 (GRCm39) |
I1206F |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,670,988 (GRCm39) |
V314E |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,390,024 (GRCm39) |
T364A |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,753,478 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,872,729 (GRCm39) |
F89Y |
probably damaging |
Het |
| Myo1b |
A |
C |
1: 51,840,337 (GRCm39) |
|
probably null |
Het |
| Myo1h |
T |
C |
5: 114,497,000 (GRCm39) |
Y819H |
probably damaging |
Het |
| Nedd1 |
G |
A |
10: 92,525,519 (GRCm39) |
Q597* |
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or5an9 |
A |
G |
19: 12,187,046 (GRCm39) |
T39A |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,789,761 (GRCm39) |
S792P |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,866,449 (GRCm39) |
N457S |
probably benign |
Het |
| Plekho2 |
T |
C |
9: 65,465,902 (GRCm39) |
E162G |
possibly damaging |
Het |
| Pou1f1 |
A |
T |
16: 65,320,430 (GRCm39) |
T40S |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,836,059 (GRCm39) |
V500A |
probably damaging |
Het |
| Pygo1 |
C |
T |
9: 72,852,020 (GRCm39) |
A69V |
probably damaging |
Het |
| Slc18a3 |
A |
C |
14: 32,185,772 (GRCm39) |
Y204D |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,707,785 (GRCm39) |
V261A |
possibly damaging |
Het |
| Tacc2 |
A |
T |
7: 130,330,671 (GRCm39) |
K208N |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,738,536 (GRCm39) |
D403G |
probably damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,995,696 (GRCm39) |
|
probably benign |
Het |
| Tdrkh |
T |
C |
3: 94,336,657 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,964,982 (GRCm39) |
L180H |
probably damaging |
Het |
| Tm4sf19 |
T |
A |
16: 32,224,733 (GRCm39) |
L27Q |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,249,157 (GRCm39) |
V192A |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,543,328 (GRCm39) |
M33219I |
probably damaging |
Het |
| Vmn1r52 |
A |
T |
6: 90,156,295 (GRCm39) |
M200L |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,263 (GRCm39) |
H739L |
probably benign |
Het |
| Wdr20rt |
T |
C |
12: 65,272,692 (GRCm39) |
F52L |
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,569,227 (GRCm39) |
G619D |
probably benign |
Het |
| Zfyve19 |
T |
C |
2: 119,041,999 (GRCm39) |
V156A |
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 |
|
IGL01419:Lrrc8a
|
APN |
2 |
30,147,111 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation