Incidental Mutation 'IGL02589:Gnb4'
| ID |
299648 |
| 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 # |
IGL02589
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32634481-32670734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32643998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 187
(V187M)
|
| 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: V187M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: V187M
| 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: V187M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: V187M
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
G |
6: 128,558,463 (GRCm39) |
I5L |
probably benign |
Het |
| Ang6 |
A |
G |
14: 44,239,419 (GRCm39) |
I103T |
possibly damaging |
Het |
| Arhgdib |
A |
G |
6: 136,910,576 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,733,722 (GRCm39) |
T1037M |
probably damaging |
Het |
| Bptf |
T |
C |
11: 107,002,357 (GRCm39) |
N252D |
possibly damaging |
Het |
| Capn2 |
T |
C |
1: 182,311,913 (GRCm39) |
Y387C |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,396,470 (GRCm39) |
D817A |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,940,244 (GRCm39) |
I318L |
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,914,691 (GRCm39) |
L255Q |
probably damaging |
Het |
| Ect2l |
T |
A |
10: 18,016,342 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
T |
C |
1: 44,203,209 (GRCm39) |
V282A |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,917,372 (GRCm39) |
D3464G |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,999,495 (GRCm39) |
L18* |
probably null |
Het |
| Ggcx |
T |
C |
6: 72,406,131 (GRCm39) |
Y586H |
probably damaging |
Het |
| Gm5796 |
A |
T |
14: 15,379,030 (GRCm39) |
K24* |
probably null |
Het |
| Gpt2 |
C |
T |
8: 86,242,795 (GRCm39) |
Q276* |
probably null |
Het |
| Idnk |
G |
T |
13: 58,311,239 (GRCm39) |
|
probably benign |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,683 (GRCm39) |
D94G |
possibly damaging |
Het |
| Ipo8 |
C |
A |
6: 148,711,405 (GRCm39) |
L294F |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,780,883 (GRCm39) |
D157V |
probably damaging |
Het |
| Kcnab3 |
A |
T |
11: 69,222,928 (GRCm39) |
I392L |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,945,471 (GRCm39) |
S761G |
possibly damaging |
Het |
| Kif21a |
G |
A |
15: 90,869,489 (GRCm39) |
T454M |
probably damaging |
Het |
| Lta4h |
A |
G |
10: 93,310,793 (GRCm39) |
N441S |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 64,986,773 (GRCm39) |
E595G |
probably benign |
Het |
| Micos13 |
T |
C |
17: 56,915,856 (GRCm39) |
E66G |
probably benign |
Het |
| Mvd |
T |
C |
8: 123,164,773 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,011,663 (GRCm39) |
|
probably null |
Het |
| Phf20l1 |
G |
T |
15: 66,487,481 (GRCm39) |
|
probably benign |
Het |
| Rdm1 |
A |
G |
11: 101,518,831 (GRCm39) |
S13G |
possibly damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Scn4a |
G |
T |
11: 106,218,958 (GRCm39) |
D953E |
probably benign |
Het |
| Sh2b1 |
A |
G |
7: 126,068,440 (GRCm39) |
I457T |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tagap |
C |
A |
17: 8,152,504 (GRCm39) |
T563K |
possibly damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,360 (GRCm39) |
I173T |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,139,755 (GRCm39) |
A2370V |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,901,480 (GRCm39) |
C536S |
probably damaging |
Het |
| Vmn2r53 |
G |
A |
7: 12,315,872 (GRCm39) |
T649I |
possibly damaging |
Het |
| Whrn |
G |
A |
4: 63,336,334 (GRCm39) |
Q301* |
probably null |
Het |
| Zfp1007 |
T |
A |
5: 109,826,386 (GRCm39) |
H62L |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
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 |
|
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