Incidental Mutation 'R5679:Saxo1'
| ID |
442923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Saxo1
|
| Ensembl Gene |
ENSMUSG00000028492 |
| Gene Name |
stabilizer of axonemal microtubules 1 |
| Synonyms |
Fam154a, 4930500O09Rik |
| MMRRC Submission |
043176-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5679 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
86362878-86476565 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86363272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 404
(V404I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030216]
|
| AlphaFold |
B1AXP3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030216
AA Change: V404I
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000030216
Gene: ENSMUSG00000028492
AA Change: V404I
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
G |
A |
11: 61,107,994 (GRCm39) |
R346Q |
probably benign |
Het |
| Bcat1 |
A |
T |
6: 144,953,474 (GRCm39) |
F304L |
probably damaging |
Het |
| Ccdc178 |
T |
G |
18: 22,200,486 (GRCm39) |
K439N |
probably benign |
Het |
| Cdkn2a |
T |
C |
4: 89,195,098 (GRCm39) |
D84G |
possibly damaging |
Het |
| Chst8 |
T |
A |
7: 34,374,729 (GRCm39) |
H370L |
probably damaging |
Het |
| Dimt1 |
A |
G |
13: 107,084,108 (GRCm39) |
T32A |
possibly damaging |
Het |
| Dph6 |
T |
C |
2: 114,398,422 (GRCm39) |
I162V |
probably benign |
Het |
| E230025N22Rik |
C |
T |
18: 36,818,435 (GRCm39) |
G465R |
possibly damaging |
Het |
| Fam3d |
T |
C |
14: 8,349,305 (GRCm38) |
E215G |
probably damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,884,794 (GRCm39) |
N612K |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,227,571 (GRCm39) |
V1528A |
probably benign |
Het |
| Gucy2g |
T |
A |
19: 55,219,511 (GRCm39) |
K370N |
possibly damaging |
Het |
| Ipo13 |
A |
T |
4: 117,752,029 (GRCm39) |
W903R |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,734,162 (GRCm39) |
H311Q |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,752,153 (GRCm39) |
|
probably benign |
Het |
| Lox |
T |
C |
18: 52,661,989 (GRCm39) |
N138S |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,698,215 (GRCm39) |
I21N |
probably damaging |
Het |
| Ncan |
T |
G |
8: 70,565,276 (GRCm39) |
Y217S |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 53,122,527 (GRCm39) |
F126L |
possibly damaging |
Het |
| Nfu1 |
T |
C |
6: 86,996,379 (GRCm39) |
V110A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
| Or5e1 |
A |
G |
7: 108,354,203 (GRCm39) |
I47V |
probably damaging |
Het |
| Or5g9 |
A |
T |
2: 85,552,390 (GRCm39) |
I214F |
probably damaging |
Het |
| Palld |
T |
C |
8: 62,137,979 (GRCm39) |
Q592R |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,225,530 (GRCm39) |
L781Q |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,098,658 (GRCm39) |
|
probably null |
Het |
| Scrt1 |
T |
A |
15: 76,403,262 (GRCm39) |
T243S |
unknown |
Het |
| Slc22a30 |
G |
T |
19: 8,313,135 (GRCm39) |
T550K |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,198,581 (GRCm39) |
S1437P |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,144,241 (GRCm39) |
I654F |
possibly damaging |
Het |
| Tfcp2l1 |
A |
G |
1: 118,596,377 (GRCm39) |
M371V |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,202,708 (GRCm39) |
N123S |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,343,749 (GRCm39) |
D506G |
probably damaging |
Het |
| Xylt1 |
A |
G |
7: 117,242,877 (GRCm39) |
D640G |
probably damaging |
Het |
| Zfp148 |
T |
G |
16: 33,316,156 (GRCm39) |
M276R |
probably damaging |
Het |
| Zfp329 |
G |
A |
7: 12,543,958 (GRCm39) |
T522I |
probably damaging |
Het |
|
| Other mutations in Saxo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00562:Saxo1
|
APN |
4 |
86,363,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2016-11-09 |
Incidental Mutation