Incidental Mutation 'R4683:Asz1'
| ID |
350111 |
| 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 |
041935-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R4683 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
18050963-18109060 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 18055541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010940]
[ENSMUST00000010940]
|
| 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 |
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: ENSMUST00000136626
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr3 |
T |
C |
1: 90,141,709 (GRCm39) |
V56A |
probably damaging |
Het |
| Acyp1 |
A |
G |
12: 85,325,717 (GRCm39) |
|
probably benign |
Het |
| Adgrb1 |
A |
T |
15: 74,459,963 (GRCm39) |
K532I |
probably damaging |
Het |
| Ahrr |
T |
A |
13: 74,372,885 (GRCm39) |
|
silent |
Het |
| AW554918 |
T |
C |
18: 25,472,852 (GRCm39) |
Y219H |
probably benign |
Het |
| Ccno |
C |
A |
13: 113,125,543 (GRCm39) |
|
probably null |
Het |
| Cdh17 |
A |
T |
4: 11,817,036 (GRCm39) |
N816Y |
possibly damaging |
Het |
| Clca4a |
C |
T |
3: 144,660,701 (GRCm39) |
V708I |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,701,179 (GRCm39) |
Y2579F |
unknown |
Het |
| Col6a4 |
A |
G |
9: 105,957,329 (GRCm39) |
V165A |
probably benign |
Het |
| Csf1r |
T |
A |
18: 61,257,983 (GRCm39) |
C651S |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,126,985 (GRCm39) |
D315G |
probably null |
Het |
| Def6 |
A |
G |
17: 28,436,609 (GRCm39) |
D91G |
probably damaging |
Het |
| Dmxl1 |
T |
G |
18: 50,011,088 (GRCm39) |
S1082A |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,768 (GRCm39) |
Y2392N |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,594,466 (GRCm39) |
S532P |
probably benign |
Het |
| Efr3a |
C |
A |
15: 65,691,650 (GRCm39) |
S126R |
probably damaging |
Het |
| Gab1 |
A |
C |
8: 81,515,261 (GRCm39) |
H352Q |
probably benign |
Het |
| Gm1110 |
A |
G |
9: 26,831,890 (GRCm39) |
M87T |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,761,774 (GRCm39) |
M535I |
possibly damaging |
Het |
| Greb1l |
T |
A |
18: 10,529,563 (GRCm39) |
|
probably null |
Het |
| Gucy2d |
T |
C |
7: 98,102,650 (GRCm39) |
C487R |
probably benign |
Het |
| H1f7 |
A |
T |
15: 98,154,921 (GRCm39) |
I76N |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,614 (GRCm39) |
H122L |
possibly damaging |
Het |
| Mrps22 |
A |
T |
9: 98,480,359 (GRCm39) |
|
probably null |
Het |
| Mxd3 |
T |
C |
13: 55,473,613 (GRCm39) |
T202A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,134,074 (GRCm39) |
H3303R |
possibly damaging |
Het |
| Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
| Or13a19 |
T |
C |
7: 139,902,681 (GRCm39) |
L23P |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,039 (GRCm39) |
T201A |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,255,675 (GRCm39) |
Y629H |
probably benign |
Het |
| Pcnx1 |
A |
G |
12: 82,033,446 (GRCm39) |
D1781G |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,316,092 (GRCm39) |
I117N |
possibly damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Pfkfb2 |
T |
A |
1: 130,634,221 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,114,901 (GRCm39) |
E1456G |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Sh2b2 |
C |
T |
5: 136,260,574 (GRCm39) |
C214Y |
probably damaging |
Het |
| Slc52a2 |
C |
A |
15: 76,424,433 (GRCm39) |
P224T |
probably damaging |
Het |
| Slf2 |
C |
G |
19: 44,923,920 (GRCm39) |
R245G |
probably benign |
Het |
| Sox5 |
T |
C |
6: 143,779,193 (GRCm39) |
S648G |
probably damaging |
Het |
| Stk36 |
T |
A |
1: 74,673,344 (GRCm39) |
I1079N |
probably benign |
Het |
| Stxbp3 |
T |
C |
3: 108,708,188 (GRCm39) |
D371G |
probably damaging |
Het |
| Trnau1ap |
A |
T |
4: 132,049,063 (GRCm39) |
Y47N |
probably damaging |
Het |
| Ubr5 |
C |
T |
15: 38,038,211 (GRCm39) |
R316H |
probably damaging |
Het |
| Vmn1r230 |
C |
T |
17: 21,067,515 (GRCm39) |
R235C |
probably benign |
Het |
| Wnt10a |
C |
T |
1: 74,842,296 (GRCm39) |
H93Y |
unknown |
Het |
| Zfp1005 |
T |
A |
2: 150,108,390 (GRCm39) |
H50Q |
possibly damaging |
Het |
| Zfp52 |
A |
G |
17: 21,781,769 (GRCm39) |
D539G |
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 |
|
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 |
|
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'- ATCATGCGCTTATCTGGCTTG -3'
(R):5'- CCTCCATGATTGCTACTCTAATATTGG -3'
Sequencing Primer
(F):5'- ATCTGGCTTGCTCTTCCACAC -3'
(R):5'- AAAGCCCAGGGTTCAGTTTTCAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation