Incidental Mutation 'IGL03225:Gnb4'
| ID |
413770 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gnb4
|
| Ensembl Gene |
ENSMUSG00000027669 |
| Gene Name |
guanine nucleotide binding protein (G protein), beta 4 |
| Synonyms |
6720453A21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32634481-32670734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32641881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 249
(T249A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108234]
[ENSMUST00000155737]
[ENSMUST00000184130]
[ENSMUST00000193050]
|
| AlphaFold |
P29387 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108234
AA Change: T249A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: T249A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
WD40
|
44 |
83 |
2.26e-7 |
SMART |
|
WD40
|
86 |
125 |
3.22e-3 |
SMART |
|
WD40
|
132 |
170 |
1.11e-6 |
SMART |
|
WD40
|
173 |
212 |
1.96e-7 |
SMART |
|
WD40
|
215 |
254 |
9.16e-8 |
SMART |
|
WD40
|
257 |
298 |
2.8e-3 |
SMART |
|
WD40
|
301 |
340 |
1.44e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144292
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152901
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155737
AA Change: T249A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: T249A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
WD40
|
44 |
83 |
2.26e-7 |
SMART |
|
WD40
|
86 |
125 |
3.22e-3 |
SMART |
|
WD40
|
132 |
170 |
1.11e-6 |
SMART |
|
WD40
|
173 |
212 |
1.96e-7 |
SMART |
|
WD40
|
215 |
254 |
9.16e-8 |
SMART |
|
WD40
|
257 |
298 |
2.8e-3 |
SMART |
|
WD40
|
301 |
340 |
1.44e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184130
|
| SMART Domains |
Protein: ENSMUSP00000138886
Gene: ENSMUSG00000027669
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
33 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192116
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193050
|
| SMART Domains |
Protein: ENSMUSP00000141196
Gene: ENSMUSG00000027669
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
PDB:4KFM|B
|
18 |
68 |
8e-24 |
PDB |
|
SCOP:d1g72a_
|
36 |
68 |
4e-3 |
SMART |
|
Blast:WD40
|
44 |
72 |
2e-11 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
G |
7: 50,249,668 (GRCm39) |
K234R |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,043 (GRCm39) |
E573G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,286,386 (GRCm39) |
I673F |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,224,543 (GRCm39) |
I1431N |
probably damaging |
Het |
| Cask |
A |
G |
X: 13,531,760 (GRCm39) |
M103V |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,779,211 (GRCm39) |
Y283H |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,875,150 (GRCm39) |
E729G |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,761 (GRCm39) |
S54P |
probably damaging |
Het |
| Krt20 |
A |
G |
11: 99,322,756 (GRCm39) |
V293A |
probably damaging |
Het |
| Lonrf1 |
A |
G |
8: 36,689,855 (GRCm39) |
V706A |
probably damaging |
Het |
| Lrrc58 |
T |
G |
16: 37,701,632 (GRCm39) |
C303W |
probably damaging |
Het |
| Mbnl2 |
A |
G |
14: 120,622,875 (GRCm39) |
T138A |
probably benign |
Het |
| Mss51 |
G |
A |
14: 20,537,205 (GRCm39) |
R88* |
probably null |
Het |
| Nup214 |
T |
A |
2: 31,924,423 (GRCm39) |
S146T |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,633 (GRCm39) |
R491H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
| Sgtb |
T |
C |
13: 104,268,453 (GRCm39) |
L163P |
probably damaging |
Het |
| Spsb3 |
T |
C |
17: 25,110,045 (GRCm39) |
I365T |
possibly damaging |
Het |
| Tmem273 |
A |
G |
14: 32,527,133 (GRCm39) |
I33M |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,902,781 (GRCm39) |
I227V |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,903,857 (GRCm39) |
T22A |
probably benign |
Het |
|
| Other mutations in Gnb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00962:Gnb4
|
APN |
3 |
32,647,318 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02527:Gnb4
|
APN |
3 |
32,644,015 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02589:Gnb4
|
APN |
3 |
32,643,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02640:Gnb4
|
APN |
3 |
32,645,374 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02966:Gnb4
|
APN |
3 |
32,639,372 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03248:Gnb4
|
APN |
3 |
32,639,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0619:Gnb4
|
UTSW |
3 |
32,645,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0620:Gnb4
|
UTSW |
3 |
32,645,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0621:Gnb4
|
UTSW |
3 |
32,645,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1278:Gnb4
|
UTSW |
3 |
32,641,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1661:Gnb4
|
UTSW |
3 |
32,644,188 (GRCm39) |
nonsense |
probably null |
|
|
R1665:Gnb4
|
UTSW |
3 |
32,644,188 (GRCm39) |
nonsense |
probably null |
|
|
R1970:Gnb4
|
UTSW |
3 |
32,652,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Gnb4
|
UTSW |
3 |
32,639,236 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5452:Gnb4
|
UTSW |
3 |
32,643,994 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5618:Gnb4
|
UTSW |
3 |
32,645,356 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6603:Gnb4
|
UTSW |
3 |
32,639,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7681:Gnb4
|
UTSW |
3 |
32,641,902 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7791:Gnb4
|
UTSW |
3 |
32,644,192 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7822:Gnb4
|
UTSW |
3 |
32,650,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8221:Gnb4
|
UTSW |
3 |
32,644,184 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Posted On |
2016-08-02 |
Incidental Mutation