Incidental Mutation 'R1278:Gnb4'
| ID |
150941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnb4
|
| Ensembl Gene |
ENSMUSG00000027669 |
| Gene Name |
guanine nucleotide binding protein (G protein), beta 4 |
| Synonyms |
6720453A21Rik |
| MMRRC Submission |
039344-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1278 (G1)
|
| Quality Score |
96 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32634481-32670734 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32641886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 247
(D247G)
|
| 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: D247G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103869
Gene: ENSMUSG00000027669
AA Change: D247G
| 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: D247G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121127
Gene: ENSMUSG00000027669
AA Change: D247G
| 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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,535,470 (GRCm39) |
S747P |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,258,572 (GRCm39) |
Y1063H |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,660 (GRCm39) |
S320P |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,580,095 (GRCm39) |
A622V |
possibly damaging |
Het |
| Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 50,026,292 (GRCm39) |
V1800A |
probably benign |
Het |
| Dock5 |
T |
C |
14: 68,077,015 (GRCm39) |
N276S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,159,005 (GRCm39) |
E3389G |
probably damaging |
Het |
| Kif20a |
C |
T |
18: 34,759,830 (GRCm39) |
T75I |
probably benign |
Het |
| Lcor |
A |
G |
19: 41,573,122 (GRCm39) |
T626A |
probably benign |
Het |
| Lix1 |
A |
G |
17: 17,647,469 (GRCm39) |
K45R |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Mark4 |
T |
A |
7: 19,165,695 (GRCm39) |
S533C |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,306,067 (GRCm39) |
V1104D |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,870 (GRCm39) |
D551G |
probably damaging |
Het |
| Or5k14 |
G |
T |
16: 58,693,340 (GRCm39) |
P58T |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 119,998,951 (GRCm39) |
|
probably null |
Het |
| Ror1 |
T |
C |
4: 100,299,075 (GRCm39) |
F816S |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Secisbp2 |
G |
T |
13: 51,808,546 (GRCm39) |
V104F |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,988,947 (GRCm39) |
|
probably null |
Het |
| Trpm7 |
A |
T |
2: 126,667,374 (GRCm39) |
Y846* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCCTAATGCCATTCTTCAGC -3'
(R):5'- AGCCTCCATGTTCTCTGAATGCATC -3'
Sequencing Primer
(F):5'- TTTTGAAAGCTCCAAGATGCCC -3'
(R):5'- GAATGCATCTGTTCTGATGTACC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation