Incidental Mutation 'IGL02695:Gnaz'
| ID |
303907 |
| 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 # |
IGL02695
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
74803009-74852739 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 74827974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000037813
|
| SMART Domains |
Protein: ENSMUSP00000036087
Gene: ENSMUSG00000040009
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
13 |
354 |
1.05e-210 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159991
|
| SMART Domains |
Protein: ENSMUSP00000124639
Gene: ENSMUSG00000040009
| 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 |
noncoding transcript
Transcript: ENSMUST00000160421
|
| 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 |
|---|
| Adam2 |
A |
T |
14: 66,287,929 (GRCm39) |
M389K |
probably benign |
Het |
| Adamts4 |
C |
A |
1: 171,080,203 (GRCm39) |
T252K |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,912,625 (GRCm39) |
G1293D |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,282,645 (GRCm39) |
E1013G |
probably damaging |
Het |
| Ankrd34b |
C |
A |
13: 92,576,120 (GRCm39) |
H451N |
possibly damaging |
Het |
| Cd300c2 |
C |
T |
11: 114,892,379 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
G |
13: 64,919,946 (GRCm39) |
Q637P |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,752,037 (GRCm39) |
I265F |
probably damaging |
Het |
| Dot1l |
C |
A |
10: 80,613,442 (GRCm39) |
T18K |
probably damaging |
Het |
| Fam83c |
T |
C |
2: 155,673,435 (GRCm39) |
D251G |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,610,402 (GRCm39) |
K325R |
probably damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,313,468 (GRCm39) |
I615F |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,344,549 (GRCm39) |
N494S |
probably benign |
Het |
| Haus5 |
A |
T |
7: 30,362,702 (GRCm39) |
L36Q |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,965,368 (GRCm39) |
G486D |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,298,985 (GRCm39) |
F2777S |
possibly damaging |
Het |
| Il1rl1 |
T |
C |
1: 40,485,718 (GRCm39) |
S290P |
possibly damaging |
Het |
| Itgam |
G |
T |
7: 127,685,113 (GRCm39) |
A409S |
possibly damaging |
Het |
| Kdm5b |
T |
A |
1: 134,532,223 (GRCm39) |
M467K |
possibly damaging |
Het |
| Lama2 |
A |
C |
10: 26,876,771 (GRCm39) |
V2725G |
probably benign |
Het |
| Lhpp |
G |
A |
7: 132,252,063 (GRCm39) |
R234Q |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,236,955 (GRCm39) |
S65P |
possibly damaging |
Het |
| Mgat5 |
T |
A |
1: 127,339,868 (GRCm39) |
H416Q |
probably damaging |
Het |
| Mta2 |
A |
G |
19: 8,925,728 (GRCm39) |
T408A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,145,603 (GRCm39) |
I2974F |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,101,608 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
C |
T |
2: 36,677,332 (GRCm39) |
S265L |
possibly damaging |
Het |
| Or2d4 |
A |
G |
7: 106,543,870 (GRCm39) |
S113P |
possibly damaging |
Het |
| Or52p1 |
A |
G |
7: 104,267,678 (GRCm39) |
H264R |
probably damaging |
Het |
| Or5w22 |
C |
T |
2: 87,362,461 (GRCm39) |
T28I |
probably benign |
Het |
| Pcca |
T |
A |
14: 122,820,150 (GRCm39) |
|
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,451 (GRCm39) |
F309L |
probably benign |
Het |
| Slc28a1 |
A |
T |
7: 80,817,739 (GRCm39) |
Y536F |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,933,486 (GRCm39) |
V433A |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,881,228 (GRCm39) |
N601Y |
probably damaging |
Het |
| Stil |
G |
T |
4: 114,873,372 (GRCm39) |
V332F |
probably damaging |
Het |
| Stk11 |
A |
G |
10: 79,961,311 (GRCm39) |
|
probably null |
Het |
| Tmem59 |
A |
G |
4: 107,050,511 (GRCm39) |
N147S |
probably benign |
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 |
|
IGL01942:Gnaz
|
APN |
10 |
74,850,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation