Incidental Mutation 'IGL03116:Asz1'
| ID |
419444 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Asz1
|
| Ensembl Gene |
ENSMUSG00000010796 |
| Gene Name |
ankyrin repeat, SAM and basic leucine zipper domain containing 1 |
| Synonyms |
ORF3, Gasz, 4933400N19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
IGL03116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
18050963-18109060 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 18076642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010940]
[ENSMUST00000136194]
|
| AlphaFold |
Q8VD46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010940
|
| SMART Domains |
Protein: ENSMUSP00000010940
Gene: ENSMUSG00000010796
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
ANK
|
45 |
74 |
4.86e1 |
SMART |
|
ANK
|
78 |
107 |
4.03e-5 |
SMART |
|
ANK
|
110 |
144 |
2.3e0 |
SMART |
|
ANK
|
148 |
177 |
3.46e-4 |
SMART |
|
ANK
|
181 |
210 |
1.05e-3 |
SMART |
|
SAM
|
271 |
336 |
5.64e-3 |
SMART |
|
Blast:ANK
|
385 |
414 |
5e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131614
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136194
|
| SMART Domains |
Protein: ENSMUSP00000122680
Gene: ENSMUSG00000010796
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
ANK
|
45 |
74 |
4.86e1 |
SMART |
|
ANK
|
78 |
107 |
4.03e-5 |
SMART |
|
ANK
|
110 |
144 |
2.3e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136626
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146216
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null male mice are sterile resulting from a block in spermatid development [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810030O07Rik |
T |
C |
X: 12,535,892 (GRCm39) |
|
probably benign |
Het |
| 9530068E07Rik |
A |
G |
11: 52,294,331 (GRCm39) |
I199V |
probably benign |
Het |
| Aasdh |
A |
T |
5: 77,049,936 (GRCm39) |
|
probably null |
Het |
| Aatk |
T |
C |
11: 119,907,577 (GRCm39) |
I84V |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,100,071 (GRCm39) |
H727R |
probably benign |
Het |
| Aff2 |
T |
C |
X: 68,878,092 (GRCm39) |
V626A |
probably benign |
Het |
| Ano2 |
C |
A |
6: 125,957,134 (GRCm39) |
Y634* |
probably null |
Het |
| Apob |
C |
A |
12: 8,066,350 (GRCm39) |
Q4407K |
probably damaging |
Het |
| Atp2b4 |
T |
G |
1: 133,656,506 (GRCm39) |
T715P |
possibly damaging |
Het |
| Brip1 |
G |
T |
11: 85,955,735 (GRCm39) |
S926* |
probably null |
Het |
| Cpd |
A |
T |
11: 76,702,539 (GRCm39) |
Y610N |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,707,057 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,312,772 (GRCm39) |
T1041I |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,973,749 (GRCm39) |
T658S |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,612,359 (GRCm39) |
S661T |
probably benign |
Het |
| Fcer1a |
G |
A |
1: 173,049,128 (GRCm39) |
Q172* |
probably null |
Het |
| Frem3 |
A |
G |
8: 81,339,435 (GRCm39) |
E576G |
possibly damaging |
Het |
| Gcsam |
T |
C |
16: 45,440,431 (GRCm39) |
F136S |
possibly damaging |
Het |
| Glmn |
T |
G |
5: 107,698,949 (GRCm39) |
T430P |
probably damaging |
Het |
| Gm5934 |
T |
C |
X: 24,340,931 (GRCm39) |
N194S |
probably benign |
Het |
| Gpatch11 |
T |
A |
17: 79,151,282 (GRCm39) |
L231* |
probably null |
Het |
| Hibadh |
A |
T |
6: 52,525,917 (GRCm39) |
N244K |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,684,060 (GRCm39) |
V723A |
probably damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,788,273 (GRCm39) |
D192V |
probably damaging |
Het |
| Ksr2 |
G |
A |
5: 117,846,022 (GRCm39) |
E630K |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,156 (GRCm39) |
H555R |
possibly damaging |
Het |
| Mycs |
A |
G |
X: 5,380,922 (GRCm39) |
F53L |
probably damaging |
Het |
| Ndufa10 |
G |
A |
1: 92,392,109 (GRCm39) |
Q215* |
probably null |
Het |
| Ninl |
C |
T |
2: 150,806,139 (GRCm39) |
A361T |
probably damaging |
Het |
| Pbsn |
A |
G |
X: 76,891,624 (GRCm39) |
C58R |
probably damaging |
Het |
| Pcsk1 |
T |
A |
13: 75,280,335 (GRCm39) |
L720Q |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,299,925 (GRCm39) |
F679L |
probably benign |
Het |
| Sohlh1 |
C |
T |
2: 25,735,660 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
C |
6: 48,471,035 (GRCm39) |
F701L |
probably benign |
Het |
| Tdp1 |
T |
C |
12: 99,921,290 (GRCm39) |
S609P |
probably benign |
Het |
| Tmtc4 |
T |
A |
14: 123,165,044 (GRCm39) |
N605I |
probably benign |
Het |
| Tnc |
G |
A |
4: 63,932,270 (GRCm39) |
P715S |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,468,834 (GRCm39) |
S1181P |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,206,892 (GRCm39) |
|
probably benign |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,898 (GRCm39) |
F249S |
probably benign |
Het |
| Zfp382 |
T |
C |
7: 29,833,614 (GRCm39) |
S422P |
probably damaging |
Het |
|
| Other mutations in Asz1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Asz1
|
APN |
6 |
18,055,541 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02691:Asz1
|
APN |
6 |
18,076,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02958:Asz1
|
APN |
6 |
18,073,813 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
H9600:Asz1
|
UTSW |
6 |
18,055,424 (GRCm39) |
splice site |
probably benign |
|
|
R0331:Asz1
|
UTSW |
6 |
18,103,618 (GRCm39) |
splice site |
probably benign |
|
|
R3441:Asz1
|
UTSW |
6 |
18,108,405 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3896:Asz1
|
UTSW |
6 |
18,075,766 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4596:Asz1
|
UTSW |
6 |
18,103,592 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4683:Asz1
|
UTSW |
6 |
18,055,541 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R5304:Asz1
|
UTSW |
6 |
18,076,619 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5869:Asz1
|
UTSW |
6 |
18,074,939 (GRCm39) |
unclassified |
probably benign |
|
|
R6550:Asz1
|
UTSW |
6 |
18,051,380 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6672:Asz1
|
UTSW |
6 |
18,075,817 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6850:Asz1
|
UTSW |
6 |
18,108,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6894:Asz1
|
UTSW |
6 |
18,055,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Asz1
|
UTSW |
6 |
18,071,818 (GRCm39) |
splice site |
probably null |
|
|
R7388:Asz1
|
UTSW |
6 |
18,074,900 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7608:Asz1
|
UTSW |
6 |
18,077,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Asz1
|
UTSW |
6 |
18,104,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Asz1
|
UTSW |
6 |
18,054,640 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8913:Asz1
|
UTSW |
6 |
18,054,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8985:Asz1
|
UTSW |
6 |
18,051,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9123:Asz1
|
UTSW |
6 |
18,054,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9125:Asz1
|
UTSW |
6 |
18,054,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9287:Asz1
|
UTSW |
6 |
18,051,290 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9288:Asz1
|
UTSW |
6 |
18,051,368 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9393:Asz1
|
UTSW |
6 |
18,051,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0054:Asz1
|
UTSW |
6 |
18,055,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation