Incidental Mutation 'IGL02640:Gnb4'
| ID |
301711 |
| 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 # |
IGL02640
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32634481-32670734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32645374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 106
(A106T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108234]
[ENSMUST00000155737]
[ENSMUST00000184130]
[ENSMUST00000193050]
|
| AlphaFold |
P29387 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108234
AA Change: A106T
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: A106T
| 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 benign
Transcript: ENSMUST00000155737
AA Change: A106T
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: A106T
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh3 |
C |
A |
2: 93,826,706 (GRCm39) |
R165L |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,120,855 (GRCm39) |
V730A |
possibly damaging |
Het |
| Arcn1 |
A |
C |
9: 44,662,614 (GRCm39) |
I344S |
probably damaging |
Het |
| Ascc3 |
A |
C |
10: 50,643,470 (GRCm39) |
D1807A |
possibly damaging |
Het |
| Atp2b3 |
A |
G |
X: 72,585,811 (GRCm39) |
S615G |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,128,904 (GRCm39) |
N450S |
probably benign |
Het |
| Cep41 |
T |
C |
6: 30,658,867 (GRCm39) |
E160G |
probably benign |
Het |
| Cxxc1 |
T |
C |
18: 74,354,254 (GRCm39) |
L654P |
probably damaging |
Het |
| Dusp29 |
T |
A |
14: 21,753,123 (GRCm39) |
T8S |
probably damaging |
Het |
| Gosr1 |
T |
C |
11: 76,645,603 (GRCm39) |
N59S |
probably benign |
Het |
| Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
| Lamc2 |
A |
G |
1: 153,027,803 (GRCm39) |
I207T |
probably damaging |
Het |
| Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
| Mcm3ap |
G |
T |
10: 76,342,255 (GRCm39) |
D1583Y |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,453,563 (GRCm39) |
F220I |
possibly damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,912 (GRCm39) |
V134A |
possibly damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,352,559 (GRCm39) |
F12Y |
probably damaging |
Het |
| Plcb1 |
T |
G |
2: 135,062,779 (GRCm39) |
|
probably benign |
Het |
| Polr3c |
G |
A |
3: 96,624,002 (GRCm39) |
T312M |
probably damaging |
Het |
| Ppp4r3c2 |
T |
C |
X: 88,796,210 (GRCm39) |
V14A |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,224,244 (GRCm39) |
D116E |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,174,569 (GRCm39) |
D747G |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,366,440 (GRCm39) |
|
probably null |
Het |
| Slit3 |
T |
C |
11: 35,591,172 (GRCm39) |
V1328A |
probably benign |
Het |
| Sucla2 |
C |
A |
14: 73,819,246 (GRCm39) |
S264Y |
probably benign |
Het |
| Tagln3 |
T |
C |
16: 45,544,596 (GRCm39) |
D25G |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,480,247 (GRCm39) |
T709A |
probably benign |
Het |
| Tead1 |
C |
T |
7: 112,460,663 (GRCm39) |
A189V |
probably benign |
Het |
| Tmem234 |
A |
G |
4: 129,494,896 (GRCm39) |
Q46R |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,868,881 (GRCm39) |
L395Q |
probably damaging |
Het |
| Tti2 |
T |
A |
8: 31,645,942 (GRCm39) |
W419R |
probably damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,194,816 (GRCm39) |
M34K |
probably benign |
Het |
| Vps13c |
G |
T |
9: 67,793,530 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
A |
T |
18: 13,977,987 (GRCm39) |
Y809N |
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 |
|
IGL02966:Gnb4
|
APN |
3 |
32,639,372 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03225:Gnb4
|
APN |
3 |
32,641,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2015-04-16 |
Incidental Mutation