Incidental Mutation 'R6388:Saxo4'
| ID |
515658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Saxo4
|
| Ensembl Gene |
ENSMUSG00000035179 |
| Gene Name |
stabilizer of axonemal microtubules 4 |
| Synonyms |
IIIG9, IIIG9L, 4930579J09Rik, Ppp1r32, IIIG9S |
| MMRRC Submission |
044537-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
10451599-10460292 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10459665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 14
(V14A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038842]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038842
AA Change: V14A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0648 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
| Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
| Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
| Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
| Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
| Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
| Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,913,183 (GRCm39) |
D543G |
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
| Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
| Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
| Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
| Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
| Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
| Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
probably benign |
Het |
|
| Other mutations in Saxo4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Saxo4
|
APN |
19 |
10,454,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00979:Saxo4
|
APN |
19 |
10,451,863 (GRCm39) |
makesense |
probably null |
|
|
IGL02405:Saxo4
|
APN |
19 |
10,451,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02664:Saxo4
|
APN |
19 |
10,459,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03105:Saxo4
|
APN |
19 |
10,454,384 (GRCm39) |
splice site |
probably benign |
|
|
R0255:Saxo4
|
UTSW |
19 |
10,452,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Saxo4
|
UTSW |
19 |
10,454,449 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1018:Saxo4
|
UTSW |
19 |
10,456,824 (GRCm39) |
splice site |
probably benign |
|
|
R1559:Saxo4
|
UTSW |
19 |
10,458,770 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2384:Saxo4
|
UTSW |
19 |
10,458,646 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4362:Saxo4
|
UTSW |
19 |
10,452,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Saxo4
|
UTSW |
19 |
10,451,865 (GRCm39) |
makesense |
probably null |
|
|
R5998:Saxo4
|
UTSW |
19 |
10,458,716 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6130:Saxo4
|
UTSW |
19 |
10,455,128 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6360:Saxo4
|
UTSW |
19 |
10,456,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6625:Saxo4
|
UTSW |
19 |
10,459,100 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6754:Saxo4
|
UTSW |
19 |
10,454,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7188:Saxo4
|
UTSW |
19 |
10,459,702 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7361:Saxo4
|
UTSW |
19 |
10,456,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7679:Saxo4
|
UTSW |
19 |
10,459,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Saxo4
|
UTSW |
19 |
10,455,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8797:Saxo4
|
UTSW |
19 |
10,455,602 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8859:Saxo4
|
UTSW |
19 |
10,459,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9315:Saxo4
|
UTSW |
19 |
10,458,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTGGCAGGTCACTCTCTG -3'
(R):5'- CATGCCAGTGTGAGAGTTGAAG -3'
Sequencing Primer
(F):5'- CTCTGCTCAGATTGACCTAGAGTG -3'
(R):5'- ACTTGGGATGCAGTTTCCAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation