Incidental Mutation 'IGL00962:Gnb4'
ID |
27145 |
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 # |
IGL00962
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
32634481-32670734 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32647318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 86
(T86A)
|
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: T86A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000103869 Gene: ENSMUSG00000027669 AA Change: T86A
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: T86A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000121127 Gene: ENSMUSG00000027669 AA Change: T86A
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
T |
18: 67,564,723 (GRCm39) |
|
probably null |
Het |
Atp8b1 |
C |
T |
18: 64,664,515 (GRCm39) |
A1218T |
probably damaging |
Het |
AY761185 |
T |
C |
8: 21,434,611 (GRCm39) |
D39G |
possibly damaging |
Het |
Fam167a |
G |
A |
14: 63,699,904 (GRCm39) |
E155K |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,815 (GRCm39) |
G4379D |
probably benign |
Het |
Fkbp10 |
A |
G |
11: 100,312,643 (GRCm39) |
T300A |
probably benign |
Het |
Gm6665 |
T |
C |
18: 31,953,204 (GRCm39) |
K57R |
probably benign |
Het |
H2-Q2 |
A |
G |
17: 35,561,825 (GRCm39) |
Y105C |
probably damaging |
Het |
Ighv1-75 |
A |
G |
12: 115,797,883 (GRCm39) |
|
probably benign |
Het |
Ilvbl |
A |
G |
10: 78,419,172 (GRCm39) |
T474A |
possibly damaging |
Het |
Shld2 |
A |
T |
14: 33,971,208 (GRCm39) |
V559E |
probably damaging |
Het |
Slc45a3 |
T |
A |
1: 131,905,265 (GRCm39) |
V96D |
probably damaging |
Het |
Tmtc3 |
C |
T |
10: 100,307,815 (GRCm39) |
G201R |
probably damaging |
Het |
Tnfsf14 |
G |
A |
17: 57,499,906 (GRCm39) |
Q83* |
probably null |
Het |
Trpm2 |
A |
G |
10: 77,779,750 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
T |
15: 37,986,178 (GRCm39) |
F2219I |
probably damaging |
Het |
Utrn |
C |
T |
10: 12,357,078 (GRCm39) |
V2747I |
possibly damaging |
Het |
Vcan |
T |
C |
13: 89,810,171 (GRCm39) |
N3207D |
probably damaging |
Het |
Vmn1r35 |
A |
G |
6: 66,656,361 (GRCm39) |
V103A |
possibly damaging |
Het |
Vmn2r97 |
A |
G |
17: 19,149,490 (GRCm39) |
T293A |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,071,726 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gnb4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |