Incidental Mutation 'IGL00959:Saxo4'
ID |
29533 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Saxo4
|
Ensembl Gene |
ENSMUSG00000035179 |
Gene Name |
stabilizer of axonemal microtubules 4 |
Synonyms |
IIIG9, IIIG9L, 4930579J09Rik, Ppp1r32, IIIG9S |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00959
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
10451599-10460292 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to T
at 10454887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035684
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038842]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000038842
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12b |
A |
T |
11: 69,057,069 (GRCm39) |
H430L |
probably damaging |
Het |
Aox4 |
G |
T |
1: 58,278,333 (GRCm39) |
V443F |
probably damaging |
Het |
Bmpr2 |
A |
T |
1: 59,854,474 (GRCm39) |
I108F |
possibly damaging |
Het |
Cflar |
G |
A |
1: 58,768,321 (GRCm39) |
|
probably null |
Het |
Chchd3 |
A |
G |
6: 32,945,188 (GRCm39) |
V106A |
probably benign |
Het |
Chl1 |
G |
T |
6: 103,686,211 (GRCm39) |
|
probably null |
Het |
Clvs2 |
C |
T |
10: 33,404,459 (GRCm39) |
M252I |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,112,057 (GRCm39) |
L449Q |
probably benign |
Het |
Col6a2 |
T |
A |
10: 76,450,368 (GRCm39) |
I188F |
probably damaging |
Het |
Cyp2c55 |
A |
G |
19: 39,026,587 (GRCm39) |
D398G |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,071,626 (GRCm39) |
|
probably benign |
Het |
Dop1a |
T |
A |
9: 86,369,484 (GRCm39) |
Y106N |
probably damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,334,493 (GRCm39) |
|
probably null |
Het |
Extl3 |
C |
T |
14: 65,314,361 (GRCm39) |
V274I |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,929,140 (GRCm39) |
R3848H |
probably damaging |
Het |
Gm11437 |
A |
C |
11: 84,039,448 (GRCm39) |
|
probably benign |
Het |
Gss |
T |
A |
2: 155,423,871 (GRCm39) |
D2V |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ilvbl |
G |
A |
10: 78,419,739 (GRCm39) |
D548N |
probably damaging |
Het |
Jmjd6 |
A |
T |
11: 116,733,202 (GRCm39) |
D115E |
possibly damaging |
Het |
Kidins220 |
T |
A |
12: 25,101,132 (GRCm39) |
S1110R |
possibly damaging |
Het |
Kmt2c |
T |
A |
5: 25,481,227 (GRCm39) |
I4784F |
probably damaging |
Het |
Mrpl52 |
T |
C |
14: 54,664,494 (GRCm39) |
V11A |
possibly damaging |
Het |
Myo3b |
A |
G |
2: 70,144,636 (GRCm39) |
Y1036C |
probably damaging |
Het |
Omp |
T |
C |
7: 97,794,357 (GRCm39) |
D90G |
probably damaging |
Het |
Or6c2b |
T |
A |
10: 128,947,893 (GRCm39) |
M134L |
probably benign |
Het |
Osmr |
T |
C |
15: 6,854,086 (GRCm39) |
I541V |
probably benign |
Het |
Ppp2r1a |
A |
T |
17: 21,181,840 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
T |
A |
5: 103,665,437 (GRCm39) |
|
probably null |
Het |
Rock2 |
C |
A |
12: 17,028,056 (GRCm39) |
N1429K |
probably benign |
Het |
Slc25a20 |
T |
G |
9: 108,559,198 (GRCm39) |
M188R |
possibly damaging |
Het |
Slc28a1 |
T |
C |
7: 80,818,816 (GRCm39) |
|
probably benign |
Het |
Sult2a6 |
T |
C |
7: 13,988,634 (GRCm39) |
Y42C |
probably damaging |
Het |
Tgfb2 |
A |
G |
1: 186,436,784 (GRCm39) |
V63A |
probably benign |
Het |
Ugt2b38 |
A |
T |
5: 87,559,682 (GRCm39) |
N403K |
probably damaging |
Het |
Vmn2r29 |
A |
G |
7: 7,244,855 (GRCm39) |
W340R |
probably benign |
Het |
Wnt5a |
C |
T |
14: 28,244,866 (GRCm39) |
T351M |
probably damaging |
Het |
|
Other mutations in Saxo4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R6388:Saxo4
|
UTSW |
19 |
10,459,665 (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 |
|
Posted On |
2013-04-17 |