Incidental Mutation 'IGL03248:Gnb4'
| ID |
414472 |
| 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 # |
IGL03248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32634481-32670734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32639324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 323
(D323G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108234]
[ENSMUST00000155737]
[ENSMUST00000184130]
|
| AlphaFold |
P29387 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108234
AA Change: D323G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: D323G
| 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: ENSMUST00000152901
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155737
AA Change: D323G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: D323G
| 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
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,197,290 (GRCm39) |
F116S |
probably damaging |
Het |
| Accsl |
A |
G |
2: 93,693,129 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
T |
A |
3: 148,523,036 (GRCm39) |
E165V |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,609,573 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 14,978,847 (GRCm39) |
V38A |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,664,530 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,159,235 (GRCm39) |
R154H |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,868,844 (GRCm39) |
Y112H |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,923 (GRCm39) |
T241I |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,530,206 (GRCm39) |
S1215G |
probably benign |
Het |
| Ddx21 |
C |
T |
10: 62,427,769 (GRCm39) |
R378Q |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,846 (GRCm39) |
L3052Q |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,861,016 (GRCm39) |
T445K |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,945,457 (GRCm39) |
W291R |
probably damaging |
Het |
| Flvcr1 |
A |
G |
1: 190,757,939 (GRCm39) |
W76R |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,046,455 (GRCm39) |
I132V |
possibly damaging |
Het |
| Hnrnpc |
G |
A |
14: 52,312,896 (GRCm39) |
|
probably benign |
Het |
| Hnrnpl |
T |
C |
7: 28,513,505 (GRCm39) |
S202P |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,321,921 (GRCm39) |
F4524L |
probably damaging |
Het |
| Iars2 |
A |
G |
1: 185,023,629 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
A |
G |
1: 63,107,341 (GRCm39) |
|
probably null |
Het |
| Itga8 |
C |
A |
2: 12,137,327 (GRCm39) |
A13S |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,020,606 (GRCm39) |
F794S |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,032,716 (GRCm39) |
L411P |
probably damaging |
Het |
| Or51f23 |
C |
T |
7: 102,452,846 (GRCm39) |
Q54* |
probably null |
Het |
| Plin1 |
C |
T |
7: 79,372,382 (GRCm39) |
V86I |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,099,324 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
C |
T |
5: 93,100,399 (GRCm39) |
P1473S |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,371,397 (GRCm39) |
I178V |
probably damaging |
Het |
| Slc20a2 |
T |
A |
8: 23,048,999 (GRCm39) |
S219T |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,198,649 (GRCm39) |
T1327I |
probably damaging |
Het |
| Tfeb |
T |
C |
17: 48,097,920 (GRCm39) |
M36T |
probably benign |
Het |
| Trim33 |
G |
A |
3: 103,218,289 (GRCm39) |
|
probably benign |
Het |
| Trnau1ap |
A |
G |
4: 132,049,114 (GRCm39) |
Y30H |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,578,298 (GRCm39) |
K276E |
possibly damaging |
Het |
| Uvssa |
T |
A |
5: 33,549,160 (GRCm39) |
I340N |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,897 (GRCm39) |
N293I |
possibly damaging |
Het |
| Xpc |
T |
C |
6: 91,481,565 (GRCm39) |
N250S |
probably damaging |
Het |
| Ybey |
T |
C |
10: 76,304,161 (GRCm39) |
I14V |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,673,182 (GRCm39) |
Y1411H |
probably damaging |
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 |
|
IGL03225:Gnb4
|
APN |
3 |
32,641,881 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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