Incidental Mutation 'R6900:Saxo1'
ID |
538483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Saxo1
|
Ensembl Gene |
ENSMUSG00000028492 |
Gene Name |
stabilizer of axonemal microtubules 1 |
Synonyms |
Fam154a, 4930500O09Rik |
MMRRC Submission |
044994-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R6900 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
86362878-86476565 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86363571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 304
(D304G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030216
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030216]
|
AlphaFold |
B1AXP3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030216
AA Change: D304G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000030216 Gene: ENSMUSG00000028492 AA Change: D304G
Domain | Start | End | E-Value | Type |
Pfam:STOP
|
5 |
129 |
2.4e-13 |
PFAM |
Pfam:STOP
|
88 |
265 |
1.6e-19 |
PFAM |
|
Meta Mutation Damage Score |
0.3523 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
T |
C |
8: 78,037,491 (GRCm39) |
D579G |
probably damaging |
Het |
Cc2d2b |
A |
G |
19: 40,813,518 (GRCm39) |
S1333G |
probably null |
Het |
Cep250 |
A |
G |
2: 155,838,190 (GRCm39) |
|
probably null |
Het |
Chd3 |
T |
C |
11: 69,245,271 (GRCm39) |
D1149G |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,701,510 (GRCm39) |
L215P |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,209,903 (GRCm39) |
M993V |
probably benign |
Het |
Ggt5 |
A |
T |
10: 75,446,371 (GRCm39) |
Q523L |
possibly damaging |
Het |
Hcn1 |
A |
G |
13: 117,793,363 (GRCm39) |
N205S |
probably benign |
Het |
Htr1b |
A |
T |
9: 81,513,623 (GRCm39) |
I328N |
probably damaging |
Het |
Itgav |
T |
A |
2: 83,633,591 (GRCm39) |
F980Y |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,757,008 (GRCm39) |
S243P |
probably damaging |
Het |
Kcnd2 |
A |
G |
6: 21,216,587 (GRCm39) |
N97S |
probably damaging |
Het |
Kifbp |
T |
C |
10: 62,394,908 (GRCm39) |
Y578C |
probably damaging |
Het |
Lars1 |
T |
C |
18: 42,367,675 (GRCm39) |
K468E |
probably benign |
Het |
Map3k1 |
T |
C |
13: 111,890,350 (GRCm39) |
N1283S |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,128,097 (GRCm39) |
|
probably null |
Het |
Mroh2b |
A |
G |
15: 4,938,469 (GRCm39) |
I253V |
probably benign |
Het |
Nup98 |
A |
G |
7: 101,835,169 (GRCm39) |
F228S |
probably damaging |
Het |
Or4k1 |
A |
T |
14: 50,377,295 (GRCm39) |
V267E |
possibly damaging |
Het |
Pdzd2 |
A |
G |
15: 12,374,123 (GRCm39) |
F2004S |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,604,925 (GRCm39) |
L1130Q |
probably benign |
Het |
Pparg |
G |
T |
6: 115,449,949 (GRCm39) |
R286L |
possibly damaging |
Het |
Ppp1r16a |
A |
G |
15: 76,575,923 (GRCm39) |
S96G |
probably damaging |
Het |
Psg29 |
C |
T |
7: 16,938,857 (GRCm39) |
Q44* |
probably null |
Het |
Rgs22 |
A |
G |
15: 36,010,893 (GRCm39) |
F1227S |
possibly damaging |
Het |
Sec14l1 |
T |
C |
11: 117,008,049 (GRCm39) |
Y12H |
probably damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,073,489 (GRCm39) |
N779S |
probably benign |
Het |
Sin3a |
T |
C |
9: 57,014,858 (GRCm39) |
V693A |
probably damaging |
Het |
Teddm1b |
G |
A |
1: 153,750,956 (GRCm39) |
C255Y |
probably benign |
Het |
Ttk |
T |
A |
9: 83,754,083 (GRCm39) |
S819T |
probably damaging |
Het |
Zfp362 |
C |
T |
4: 128,679,808 (GRCm39) |
C273Y |
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 |
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 |
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'- AAGGTTCAGCAGGCAAGCTC -3'
(R):5'- ACATCCCCTTTGAGAACCTG -3'
Sequencing Primer
(F):5'- TCAGCAGGCAAGCTCAGGTG -3'
(R):5'- AAAGAGTCCTACCGAGGCCTG -3'
|
Posted On |
2018-11-06 |