Incidental Mutation 'IGL01942:Gnaz'
| ID |
180887 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gnaz
|
| Ensembl Gene |
ENSMUSG00000040009 |
| Gene Name |
guanine nucleotide binding protein, alpha z subunit |
| Synonyms |
Gz |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
74803009-74852739 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74850706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 244
(M244V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009214]
[ENSMUST00000037813]
[ENSMUST00000159991]
[ENSMUST00000160072]
[ENSMUST00000160450]
[ENSMUST00000166088]
[ENSMUST00000179546]
|
| AlphaFold |
O70443 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009214
|
| SMART Domains |
Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
28 |
133 |
9.9e-8 |
PFAM |
|
ARM
|
138 |
178 |
3.18e1 |
SMART |
|
ARM
|
218 |
258 |
1.88e0 |
SMART |
|
ARM
|
259 |
300 |
3.32e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037813
AA Change: M244V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036087
Gene: ENSMUSG00000040009
AA Change: M244V
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
354 |
1.05e-210 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159991
AA Change: M244V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124639
Gene: ENSMUSG00000040009
AA Change: M244V
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
354 |
1.05e-210 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160072
|
| SMART Domains |
Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
28 |
133 |
1.6e-8 |
PFAM |
|
Blast:ARM
|
138 |
161 |
2e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160450
|
| SMART Domains |
Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
28 |
133 |
4.1e-8 |
PFAM |
|
Blast:ARM
|
138 |
178 |
3e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166088
|
| SMART Domains |
Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ARM
|
48 |
88 |
1e-7 |
BLAST |
|
Blast:ARM
|
89 |
129 |
3e-16 |
BLAST |
|
ARM
|
171 |
211 |
3.18e1 |
SMART |
|
ARM
|
251 |
291 |
1.88e0 |
SMART |
|
ARM
|
292 |
333 |
3.32e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179546
|
| SMART Domains |
Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT_2
|
28 |
133 |
9.9e-8 |
PFAM |
|
ARM
|
138 |
178 |
3.18e1 |
SMART |
|
ARM
|
218 |
258 |
1.88e0 |
SMART |
|
ARM
|
259 |
300 |
3.32e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypertolerance to morphine. Mice homozygous for a reporter allele exhibit impaired platelet aggregation, increased resistance to fatal thromboembolism, reduced morphine-elicited antinociception, and altered behavioral responses to addictive substances. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
G |
A |
7: 45,635,997 (GRCm39) |
R1017W |
possibly damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,515 (GRCm39) |
R200G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,310,749 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
A |
C |
1: 172,113,876 (GRCm39) |
S369A |
probably benign |
Het |
| Bag3 |
T |
A |
7: 128,148,024 (GRCm39) |
D546E |
probably benign |
Het |
| Bcl6b |
T |
A |
11: 70,117,569 (GRCm39) |
Y379F |
probably damaging |
Het |
| Cbln2 |
T |
C |
18: 86,734,450 (GRCm39) |
V136A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,461,294 (GRCm39) |
D120E |
probably benign |
Het |
| Cd14 |
T |
A |
18: 36,858,693 (GRCm39) |
H254L |
possibly damaging |
Het |
| Chd3 |
A |
G |
11: 69,240,931 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,224,692 (GRCm39) |
R150H |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,673,784 (GRCm39) |
L405P |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,927 (GRCm39) |
C383Y |
probably damaging |
Het |
| Dse |
T |
A |
10: 34,031,989 (GRCm39) |
Q345L |
probably benign |
Het |
| Gpr65 |
A |
T |
12: 98,241,974 (GRCm39) |
Y209F |
possibly damaging |
Het |
| Inpp5f |
T |
C |
7: 128,269,493 (GRCm39) |
I281T |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
| Mapk8ip2 |
G |
A |
15: 89,341,220 (GRCm39) |
|
probably null |
Het |
| Med24 |
G |
A |
11: 98,600,508 (GRCm39) |
R646W |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,843,918 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or1n2 |
A |
G |
2: 36,797,869 (GRCm39) |
M304V |
probably benign |
Het |
| Or4c35 |
G |
T |
2: 89,808,322 (GRCm39) |
V67L |
probably benign |
Het |
| Or8g50 |
A |
T |
9: 39,648,962 (GRCm39) |
M284L |
possibly damaging |
Het |
| Pgap3 |
T |
C |
11: 98,288,780 (GRCm39) |
Y125C |
probably damaging |
Het |
| Rasl12 |
T |
C |
9: 65,315,644 (GRCm39) |
V96A |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,801,874 (GRCm39) |
M127I |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,354,546 (GRCm39) |
|
probably null |
Het |
| Serpinb1b |
C |
T |
13: 33,269,294 (GRCm39) |
T9I |
possibly damaging |
Het |
| Setd1b |
T |
A |
5: 123,301,489 (GRCm39) |
F16I |
possibly damaging |
Het |
| Slc25a28 |
A |
G |
19: 43,652,947 (GRCm39) |
F238S |
probably damaging |
Het |
| Slc2a2 |
T |
C |
3: 28,759,952 (GRCm39) |
V30A |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,762,962 (GRCm39) |
|
probably benign |
Het |
| Socs4 |
T |
A |
14: 47,528,107 (GRCm39) |
C347* |
probably null |
Het |
| Spock1 |
C |
T |
13: 57,578,141 (GRCm39) |
E367K |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,251,608 (GRCm39) |
R8H |
probably benign |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,806 (GRCm39) |
M41K |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp575 |
T |
C |
7: 24,285,240 (GRCm39) |
T134A |
possibly damaging |
Het |
|
| Other mutations in Gnaz |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01587:Gnaz
|
APN |
10 |
74,827,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02695:Gnaz
|
APN |
10 |
74,827,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0039:Gnaz
|
UTSW |
10 |
74,850,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Gnaz
|
UTSW |
10 |
74,827,702 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4924:Gnaz
|
UTSW |
10 |
74,827,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5209:Gnaz
|
UTSW |
10 |
74,827,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5747:Gnaz
|
UTSW |
10 |
74,827,235 (GRCm39) |
intron |
probably benign |
|
|
R5798:Gnaz
|
UTSW |
10 |
74,850,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Gnaz
|
UTSW |
10 |
74,827,268 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9278:Gnaz
|
UTSW |
10 |
74,827,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Gnaz
|
UTSW |
10 |
74,850,792 (GRCm39) |
missense |
|
|
|
| Posted On |
2014-05-07 |
Incidental Mutation