Incidental Mutation 'R3896:Asz1'
| ID |
310541 |
| 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 |
040807-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R3896 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
18050963-18109060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18075766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 269
(I269T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010940]
[ENSMUST00000136194]
|
| AlphaFold |
Q8VD46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010940
AA Change: I269T
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000010940
Gene: ENSMUSG00000010796
AA Change: I269T
| 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
|
| Meta Mutation Damage Score |
0.1237 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
T |
3: 146,356,868 (GRCm39) |
N13K |
possibly damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Arhgap20 |
A |
T |
9: 51,728,137 (GRCm39) |
I117F |
probably damaging |
Het |
| Atp8a2 |
C |
A |
14: 60,263,589 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
A |
T |
3: 89,864,626 (GRCm39) |
I163K |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,640,980 (GRCm39) |
F700L |
probably damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,916,984 (GRCm39) |
D580G |
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,540,392 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
T |
C |
19: 39,130,722 (GRCm39) |
V112A |
possibly damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,610 (GRCm39) |
C356S |
probably damaging |
Het |
| Emb |
A |
G |
13: 117,409,598 (GRCm39) |
*331W |
probably null |
Het |
| Enpp3 |
A |
C |
10: 24,653,847 (GRCm39) |
S703R |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,596,008 (GRCm39) |
|
probably benign |
Het |
| Foxp1 |
T |
A |
6: 99,052,897 (GRCm39) |
Q97L |
probably benign |
Het |
| Gdf10 |
A |
T |
14: 33,656,438 (GRCm39) |
N467Y |
probably damaging |
Het |
| Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
| Gsn |
T |
C |
2: 35,192,650 (GRCm39) |
S522P |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 111,235,711 (GRCm39) |
F1899I |
possibly damaging |
Het |
| Ints1 |
C |
A |
5: 139,743,399 (GRCm39) |
E1658* |
probably null |
Het |
| Jakmip2 |
A |
T |
18: 43,682,751 (GRCm39) |
F691Y |
probably benign |
Het |
| Klhl28 |
A |
G |
12: 65,004,333 (GRCm39) |
F60S |
probably damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,469,719 (GRCm39) |
S992L |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,812,440 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,364,987 (GRCm39) |
I3258N |
possibly damaging |
Het |
| Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
| Matcap1 |
T |
A |
8: 106,009,920 (GRCm39) |
H343L |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,812,420 (GRCm39) |
V739E |
probably damaging |
Het |
| Naa35 |
C |
T |
13: 59,755,109 (GRCm39) |
T185I |
probably damaging |
Het |
| Or10v9 |
T |
C |
19: 11,832,951 (GRCm39) |
D122G |
probably damaging |
Het |
| Or4c15b |
A |
G |
2: 89,113,441 (GRCm39) |
F33S |
possibly damaging |
Het |
| Reg4 |
A |
T |
3: 98,132,082 (GRCm39) |
|
probably benign |
Het |
| Rnaseh2b |
A |
C |
14: 62,597,906 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,946,302 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,933,379 (GRCm39) |
M1528L |
probably benign |
Het |
| Sdr16c5 |
T |
A |
4: 4,006,609 (GRCm39) |
T228S |
probably damaging |
Het |
| Sgo2a |
T |
C |
1: 58,052,805 (GRCm39) |
C202R |
probably damaging |
Het |
| Slc25a46 |
A |
G |
18: 31,716,725 (GRCm39) |
L259P |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,345,625 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
G |
T |
9: 99,757,636 (GRCm39) |
H34Q |
probably damaging |
Het |
| Syna |
T |
A |
5: 134,587,165 (GRCm39) |
K595* |
probably null |
Het |
| Taf4 |
A |
G |
2: 179,573,807 (GRCm39) |
V687A |
probably benign |
Het |
| Tmbim7 |
C |
T |
5: 3,711,916 (GRCm39) |
H54Y |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,068,067 (GRCm39) |
M89V |
probably benign |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,093 (GRCm39) |
Y261C |
probably benign |
Het |
| Xkr4 |
A |
G |
1: 3,286,414 (GRCm39) |
I592T |
probably damaging |
Het |
| Ywhah |
A |
G |
5: 33,184,349 (GRCm39) |
Y184C |
probably damaging |
Het |
| Zkscan16 |
C |
T |
4: 58,946,125 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTTCTAAACTCTAGAGAACAAGGC -3'
(R):5'- GCCTTTACTTGGTTTTACAGAAGG -3'
Sequencing Primer
(F):5'- AGGCATCTAAAATCCAGACATTTC -3'
(R):5'- ATGTTCATCTTCTTTTCAGTGTAAGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation