Incidental Mutation 'R3441:Asz1'
| ID |
267375 |
| 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 |
040659-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R3441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
18050963-18109060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 18108405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 68
(S68A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010940]
[ENSMUST00000136194]
|
| AlphaFold |
Q8VD46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010940
AA Change: S68A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000010940
Gene: ENSMUSG00000010796
AA Change: S68A
| 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
AA Change: S68A
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000122680
Gene: ENSMUSG00000010796
AA Change: S68A
| 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: ENSMUST00000202462
|
| Meta Mutation Damage Score |
0.0723 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (34/35) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,170,759 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
A |
G |
19: 5,620,011 (GRCm39) |
H477R |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,727,292 (GRCm39) |
K413E |
probably benign |
Het |
| Cav3 |
G |
A |
6: 112,449,402 (GRCm39) |
C140Y |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cfap91 |
T |
C |
16: 38,154,168 (GRCm39) |
M126V |
probably benign |
Het |
| Clrn3 |
A |
C |
7: 135,115,854 (GRCm39) |
Y165* |
probably null |
Het |
| Cp |
A |
T |
3: 20,029,121 (GRCm39) |
M533L |
probably benign |
Het |
| Cyba |
C |
T |
8: 123,151,803 (GRCm39) |
W103* |
probably null |
Het |
| Epha4 |
G |
T |
1: 77,403,333 (GRCm39) |
N95K |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,817,071 (GRCm39) |
N4268S |
probably benign |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Hyal6 |
C |
T |
6: 24,734,592 (GRCm39) |
A175V |
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,964,575 (GRCm39) |
D1334N |
possibly damaging |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,713 (GRCm39) |
T138A |
probably damaging |
Het |
| Mrc2 |
A |
T |
11: 105,238,542 (GRCm39) |
T1230S |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,257,431 (GRCm39) |
I109F |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,540,789 (GRCm39) |
F1947S |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,162 (GRCm39) |
I44V |
probably benign |
Het |
| Or6k2 |
A |
T |
1: 173,986,746 (GRCm39) |
M136L |
probably benign |
Het |
| Plxnc1 |
G |
A |
10: 94,706,872 (GRCm39) |
T555I |
probably benign |
Het |
| Rab21 |
CCCGCCGCCGCCGCCGCC |
CCCGCCGCCGCCGCC |
10: 115,151,214 (GRCm39) |
|
probably benign |
Het |
| Rag2 |
T |
A |
2: 101,460,645 (GRCm39) |
F318L |
probably damaging |
Het |
| Scgb2b24 |
G |
T |
7: 33,438,025 (GRCm39) |
F27L |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,414 (GRCm39) |
D618V |
unknown |
Het |
| Teddm1b |
A |
G |
1: 153,751,007 (GRCm39) |
E272G |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,202,723 (GRCm39) |
M88L |
probably benign |
Het |
| Tfpi2 |
A |
T |
6: 3,965,504 (GRCm39) |
Y103N |
probably benign |
Het |
| Tmem98 |
A |
G |
11: 80,705,125 (GRCm39) |
N71S |
probably damaging |
Het |
| Vmn1r181 |
A |
G |
7: 23,684,308 (GRCm39) |
I258V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCATTCCAAGTAAGAGGGTAG -3'
(R):5'- TTGCAGGCCAAAGCAGAAAC -3'
Sequencing Primer
(F):5'- CATTCCAAGTAAGAGGGTAGATGAAG -3'
(R):5'- GCCAAAGCAGAAACAACCCTATGTAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation