Incidental Mutation 'R6677:Saxo2'
| ID |
527311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Saxo2
|
| Ensembl Gene |
ENSMUSG00000038570 |
| Gene Name |
stabilizer of axonemal microtubules 2 |
| Synonyms |
Fam154b, 1700129I04Rik |
| MMRRC Submission |
044796-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R6677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
82282168-82297736 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82284484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 125
(R125G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056728]
[ENSMUST00000207693]
|
| AlphaFold |
Q8BQB6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056728
AA Change: R125G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000057993
Gene: ENSMUSG00000038570
AA Change: R125G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STOP
|
4 |
201 |
3.6e-42 |
PFAM |
|
Pfam:STOP
|
237 |
390 |
4.3e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156720
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207693
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
G |
T |
8: 87,261,381 (GRCm39) |
H713Q |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,079,869 (GRCm39) |
T1874A |
probably benign |
Het |
| Atl1 |
A |
G |
12: 70,000,218 (GRCm39) |
I289M |
probably damaging |
Het |
| Atp12a |
A |
G |
14: 56,618,311 (GRCm39) |
D654G |
probably damaging |
Het |
| Bbox1 |
C |
A |
2: 110,135,770 (GRCm39) |
D70Y |
probably damaging |
Het |
| Blzf1 |
A |
T |
1: 164,130,181 (GRCm39) |
V50D |
possibly damaging |
Het |
| Ccdc168 |
G |
T |
1: 44,097,859 (GRCm39) |
R1080S |
probably benign |
Het |
| Cfap65 |
C |
A |
1: 74,943,844 (GRCm39) |
D1556Y |
probably damaging |
Het |
| Chrm2 |
A |
T |
6: 36,501,027 (GRCm39) |
N295Y |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,529,145 (GRCm39) |
E843V |
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,653,855 (GRCm39) |
N701Y |
possibly damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,166,380 (GRCm39) |
L367F |
possibly damaging |
Het |
| Gm4841 |
A |
T |
18: 60,403,652 (GRCm39) |
F147Y |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,485,445 (GRCm39) |
T500A |
possibly damaging |
Het |
| Lama1 |
G |
A |
17: 68,102,228 (GRCm39) |
V1951I |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,123,898 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,899,444 (GRCm39) |
V359A |
probably benign |
Het |
| Nhsl1 |
T |
A |
10: 18,401,610 (GRCm39) |
D911E |
probably damaging |
Het |
| Or13a23-ps1 |
T |
G |
7: 140,118,465 (GRCm39) |
F12V |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 128,962,131 (GRCm39) |
|
probably benign |
Het |
| Qrfprl |
A |
T |
6: 65,433,229 (GRCm39) |
I350F |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,866,953 (GRCm39) |
D103G |
probably damaging |
Het |
| Sfxn2 |
A |
T |
19: 46,570,967 (GRCm39) |
N9I |
possibly damaging |
Het |
| Shroom1 |
G |
A |
11: 53,354,343 (GRCm39) |
A88T |
possibly damaging |
Het |
| Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
| Sult5a1 |
A |
G |
8: 123,876,017 (GRCm39) |
F100L |
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,990,942 (GRCm39) |
Q579R |
possibly damaging |
Het |
| Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
| Zic5 |
C |
G |
14: 122,702,566 (GRCm39) |
R55P |
unknown |
Het |
|
| Other mutations in Saxo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01326:Saxo2
|
APN |
7 |
82,297,613 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01992:Saxo2
|
APN |
7 |
82,284,108 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0973:Saxo2
|
UTSW |
7 |
82,284,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0973:Saxo2
|
UTSW |
7 |
82,284,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0974:Saxo2
|
UTSW |
7 |
82,284,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1169:Saxo2
|
UTSW |
7 |
82,284,379 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3113:Saxo2
|
UTSW |
7 |
82,292,949 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4912:Saxo2
|
UTSW |
7 |
82,283,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5406:Saxo2
|
UTSW |
7 |
82,284,586 (GRCm39) |
missense |
probably benign |
|
|
R5784:Saxo2
|
UTSW |
7 |
82,284,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6344:Saxo2
|
UTSW |
7 |
82,284,073 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6806:Saxo2
|
UTSW |
7 |
82,284,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6912:Saxo2
|
UTSW |
7 |
82,284,402 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6968:Saxo2
|
UTSW |
7 |
82,292,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7621:Saxo2
|
UTSW |
7 |
82,297,625 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7655:Saxo2
|
UTSW |
7 |
82,284,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7656:Saxo2
|
UTSW |
7 |
82,284,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9108:Saxo2
|
UTSW |
7 |
82,284,082 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9241:Saxo2
|
UTSW |
7 |
82,284,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9682:Saxo2
|
UTSW |
7 |
82,292,881 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTCATTCCGGTGAGTGG -3'
(R):5'- GCTTGACAATGCGAGAAATTAGTC -3'
Sequencing Primer
(F):5'- GTGAGATCCTCAAAAGGCTGGTC -3'
(R):5'- TGCGAGAAATTAGTCAGGATATTTTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation