Incidental Mutation 'IGL00562:Saxo1'
ID |
277757 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Saxo1
|
Ensembl Gene |
ENSMUSG00000028492 |
Gene Name |
stabilizer of axonemal microtubules 1 |
Synonyms |
Fam154a, 4930500O09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL00562
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
86362878-86476565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 86363809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 225
(E225K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030216
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030216]
|
AlphaFold |
B1AXP3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030216
AA Change: E225K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000030216 Gene: ENSMUSG00000028492 AA Change: E225K
Domain | Start | End | E-Value | Type |
Pfam:STOP
|
5 |
129 |
2.4e-13 |
PFAM |
Pfam:STOP
|
88 |
265 |
1.6e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118478
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151481
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1500035N22Rik |
T |
C |
5: 25,202,619 (GRCm39) |
|
probably benign |
Het |
AU016765 |
C |
A |
17: 64,826,877 (GRCm39) |
|
noncoding transcript |
Het |
Chaf1b |
T |
C |
16: 93,697,079 (GRCm39) |
|
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,464,505 (GRCm39) |
|
probably benign |
Het |
Crip1 |
T |
A |
12: 113,117,232 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
G |
2: 13,299,041 (GRCm39) |
S3211P |
probably benign |
Het |
Dlx6 |
C |
T |
6: 6,865,143 (GRCm39) |
R172W |
probably damaging |
Het |
Fktn |
A |
T |
4: 53,747,007 (GRCm39) |
|
probably null |
Het |
Focad |
T |
A |
4: 88,267,046 (GRCm39) |
M1019K |
unknown |
Het |
Fuca2 |
A |
T |
10: 13,381,651 (GRCm39) |
D188V |
probably damaging |
Het |
Kcna3 |
A |
G |
3: 106,944,046 (GRCm39) |
D103G |
probably damaging |
Het |
Mrpl19 |
A |
G |
6: 81,942,853 (GRCm39) |
V19A |
probably benign |
Het |
Ndufb3 |
T |
A |
1: 58,634,958 (GRCm39) |
H103Q |
possibly damaging |
Het |
Pkd1l3 |
T |
C |
8: 110,382,779 (GRCm39) |
V1675A |
possibly damaging |
Het |
Ptger4 |
A |
T |
15: 5,272,614 (GRCm39) |
S2T |
probably benign |
Het |
Sftpb |
G |
T |
6: 72,286,845 (GRCm39) |
A228S |
probably benign |
Het |
Slc22a29 |
T |
A |
19: 8,138,993 (GRCm39) |
T490S |
probably benign |
Het |
Slc29a1 |
T |
C |
17: 45,900,918 (GRCm39) |
N50S |
probably damaging |
Het |
Smc6 |
T |
A |
12: 11,351,532 (GRCm39) |
S854T |
probably benign |
Het |
Smim23 |
T |
C |
11: 32,771,893 (GRCm39) |
T58A |
probably benign |
Het |
Tas2r134 |
T |
C |
2: 51,518,100 (GRCm39) |
I193T |
possibly damaging |
Het |
Thsd7a |
G |
T |
6: 12,379,658 (GRCm39) |
|
probably null |
Het |
Trav13n-4 |
T |
G |
14: 53,601,423 (GRCm39) |
V64G |
possibly damaging |
Het |
Trmt10a |
G |
A |
3: 137,853,177 (GRCm39) |
E13K |
probably damaging |
Het |
Txndc11 |
T |
C |
16: 10,922,496 (GRCm39) |
S239G |
probably damaging |
Het |
Vmn2r96 |
T |
A |
17: 18,804,077 (GRCm39) |
N442K |
probably benign |
Het |
Vps13a |
C |
T |
19: 16,712,078 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Saxo1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00563:Saxo1
|
APN |
4 |
86,363,809 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01816:Saxo1
|
APN |
4 |
86,363,851 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02941:Saxo1
|
APN |
4 |
86,363,821 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03139:Saxo1
|
APN |
4 |
86,405,999 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0498:Saxo1
|
UTSW |
4 |
86,397,133 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0522:Saxo1
|
UTSW |
4 |
86,363,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R1126:Saxo1
|
UTSW |
4 |
86,397,224 (GRCm39) |
missense |
probably benign |
0.30 |
R2203:Saxo1
|
UTSW |
4 |
86,363,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R2261:Saxo1
|
UTSW |
4 |
86,397,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R2262:Saxo1
|
UTSW |
4 |
86,397,212 (GRCm39) |
missense |
probably damaging |
1.00 |
R4017:Saxo1
|
UTSW |
4 |
86,476,233 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4629:Saxo1
|
UTSW |
4 |
86,406,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R5199:Saxo1
|
UTSW |
4 |
86,406,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R5471:Saxo1
|
UTSW |
4 |
86,363,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R5626:Saxo1
|
UTSW |
4 |
86,363,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R5679:Saxo1
|
UTSW |
4 |
86,363,272 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5710:Saxo1
|
UTSW |
4 |
86,363,272 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5782:Saxo1
|
UTSW |
4 |
86,364,044 (GRCm39) |
missense |
probably damaging |
0.96 |
R6900:Saxo1
|
UTSW |
4 |
86,363,571 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7035:Saxo1
|
UTSW |
4 |
86,363,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R7491:Saxo1
|
UTSW |
4 |
86,363,644 (GRCm39) |
missense |
probably benign |
0.27 |
R9524:Saxo1
|
UTSW |
4 |
86,397,132 (GRCm39) |
missense |
probably benign |
0.05 |
R9525:Saxo1
|
UTSW |
4 |
86,363,186 (GRCm39) |
nonsense |
probably null |
|
Z1176:Saxo1
|
UTSW |
4 |
86,364,040 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2015-04-16 |