Incidental Mutation 'R5626:Saxo1'
ID |
441832 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Saxo1
|
Ensembl Gene |
ENSMUSG00000028492 |
Gene Name |
stabilizer of axonemal microtubules 1 |
Synonyms |
Fam154a, 4930500O09Rik |
MMRRC Submission |
043165-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R5626 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
86362878-86476565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86363826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 219
(E219G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030216
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030216]
|
AlphaFold |
B1AXP3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030216
AA Change: E219G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030216 Gene: ENSMUSG00000028492 AA Change: E219G
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
G |
C |
3: 137,986,171 (GRCm39) |
V53L |
probably benign |
Het |
Arfgap2 |
C |
T |
2: 91,105,737 (GRCm39) |
Q514* |
probably null |
Het |
Calhm2 |
A |
C |
19: 47,121,558 (GRCm39) |
C204G |
probably damaging |
Het |
Carhsp1 |
T |
C |
16: 8,478,897 (GRCm39) |
N119D |
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,471,980 (GRCm39) |
L133P |
probably damaging |
Het |
Clcn4 |
A |
T |
7: 7,292,017 (GRCm39) |
V598E |
probably damaging |
Het |
Cpxm2 |
TGCAGCAGCAGCAGCAGCAG |
TGCAGCAGCAGCAGCAG |
7: 131,661,581 (GRCm39) |
|
probably benign |
Het |
Ddi1 |
T |
C |
9: 6,266,003 (GRCm39) |
H122R |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,607,575 (GRCm39) |
T2697A |
probably benign |
Het |
Ednrb |
T |
A |
14: 104,080,564 (GRCm39) |
I117F |
probably damaging |
Het |
Egflam |
A |
G |
15: 7,280,688 (GRCm39) |
S446P |
possibly damaging |
Het |
F5 |
A |
G |
1: 164,036,604 (GRCm39) |
I1922V |
probably damaging |
Het |
Gpc1 |
T |
A |
1: 92,784,841 (GRCm39) |
|
probably null |
Het |
Gphn |
A |
C |
12: 78,730,671 (GRCm39) |
I769L |
probably benign |
Het |
Grid2 |
T |
C |
6: 64,053,929 (GRCm39) |
|
probably null |
Het |
Hira |
G |
T |
16: 18,746,262 (GRCm39) |
Q468H |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,532,318 (GRCm39) |
G3154E |
probably damaging |
Het |
Ighv16-1 |
G |
A |
12: 114,032,472 (GRCm39) |
T92M |
probably damaging |
Het |
Lcmt2 |
T |
C |
2: 120,969,943 (GRCm39) |
E380G |
probably benign |
Het |
Ms4a14 |
A |
G |
19: 11,281,419 (GRCm39) |
F380L |
probably benign |
Het |
Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
Ncbp1 |
G |
A |
4: 46,161,290 (GRCm39) |
S422N |
probably damaging |
Het |
Pcolce |
T |
A |
5: 137,608,661 (GRCm39) |
T26S |
probably damaging |
Het |
Pitpnm3 |
T |
C |
11: 72,003,158 (GRCm39) |
I51V |
probably benign |
Het |
Plcb3 |
T |
C |
19: 6,932,643 (GRCm39) |
S1041G |
probably benign |
Het |
Ppp5c |
T |
C |
7: 16,761,629 (GRCm39) |
D37G |
probably benign |
Het |
Prkca |
T |
C |
11: 107,948,641 (GRCm39) |
D116G |
possibly damaging |
Het |
Qrsl1 |
A |
T |
10: 43,757,516 (GRCm39) |
D367E |
probably benign |
Het |
Rbm26 |
T |
C |
14: 105,381,667 (GRCm39) |
T493A |
probably benign |
Het |
Slc22a16 |
A |
T |
10: 40,460,849 (GRCm39) |
|
probably null |
Het |
Tmem30c |
T |
C |
16: 57,096,506 (GRCm39) |
N205S |
possibly damaging |
Het |
Trp53i11 |
A |
G |
2: 93,029,723 (GRCm39) |
N119S |
possibly damaging |
Het |
Wnt3a |
A |
T |
11: 59,181,409 (GRCm39) |
I22N |
probably benign |
Het |
Zfp998 |
A |
G |
13: 66,580,040 (GRCm39) |
Y148H |
probably benign |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGGCCAGGCTTGAAATTTCTC -3'
(R):5'- AAGACGGGAGCTTCTTCGTC -3'
Sequencing Primer
(F):5'- GCCAGGCTTGAAATTTCTCCTGAAC -3'
(R):5'- TTCGTCCTCCACACAAGTACCG -3'
|
Posted On |
2016-11-08 |