Incidental Mutation 'R6672:Asz1'
| ID |
527167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asz1
|
| Ensembl Gene |
ENSMUSG00000010796 |
| Gene Name |
ankyrin repeat, SAM and basic leucine zipper domain containing 1 |
| Synonyms |
ORF3, Gasz, 4933400N19Rik |
| MMRRC Submission |
044792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R6672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
18050963-18109060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18075817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 252
(E252V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010940]
[ENSMUST00000136194]
|
| AlphaFold |
Q8VD46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010940
AA Change: E252V
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000010940
Gene: ENSMUSG00000010796
AA Change: E252V
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (31/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
| Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
| Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,076,118 (GRCm39) |
R357G |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,015,693 (GRCm39) |
C357R |
probably damaging |
Het |
| Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
| Eef1g |
A |
G |
19: 8,944,411 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
C |
4: 124,942,186 (GRCm39) |
V397A |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,565,408 (GRCm39) |
E21G |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
| Hectd2 |
G |
T |
19: 36,564,780 (GRCm39) |
Q20H |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
| Lrpap1 |
A |
T |
5: 35,256,577 (GRCm39) |
M135K |
probably benign |
Het |
| Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
| Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
G |
A |
7: 140,046,648 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
| Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,629 (GRCm39) |
L361P |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,275,863 (GRCm39) |
H327R |
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 |
|
IGL03116:Asz1
|
APN |
6 |
18,076,642 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTCTAAACTCTAGAGAACAAGGC -3'
(R):5'- GAAGCCTTTACTTGGTTTTACAGAAGG -3'
Sequencing Primer
(F):5'- AGGCATCTAAAATCCAGACATTTC -3'
(R):5'- AGTTATAAGTCTTTGAACCACTTACC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation