Incidental Mutation 'R4362:Saxo4'
ID |
324974 |
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 |
041671-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4362 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
10451599-10460292 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10452385 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 375
(Y375C)
|
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: Y375C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.4375 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (39/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
C |
T |
7: 28,947,687 (GRCm39) |
|
probably benign |
Het |
Abcc6 |
A |
G |
7: 45,648,256 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
G |
A |
2: 26,894,794 (GRCm39) |
C1034Y |
probably damaging |
Het |
Atp2b4 |
G |
T |
1: 133,667,669 (GRCm39) |
P125Q |
possibly damaging |
Het |
Atp8b1 |
C |
T |
18: 64,697,608 (GRCm39) |
R412H |
probably damaging |
Het |
Bicc1 |
ATGTG |
ATG |
10: 70,779,204 (GRCm39) |
|
probably null |
Het |
Cap1 |
G |
A |
4: 122,756,780 (GRCm39) |
P302S |
probably benign |
Het |
Chodl |
G |
T |
16: 78,741,546 (GRCm39) |
|
probably null |
Het |
Cplane1 |
T |
A |
15: 8,300,229 (GRCm39) |
S3179T |
unknown |
Het |
Cplx2 |
A |
T |
13: 54,526,630 (GRCm39) |
T13S |
probably benign |
Het |
Dennd5a |
G |
A |
7: 109,495,550 (GRCm39) |
R1194W |
probably damaging |
Het |
Dsc2 |
T |
A |
18: 20,183,214 (GRCm39) |
D68V |
probably damaging |
Het |
Dus4l |
A |
C |
12: 31,698,827 (GRCm39) |
I59R |
probably damaging |
Het |
Edc3 |
C |
T |
9: 57,620,829 (GRCm39) |
P50L |
probably damaging |
Het |
Ext1 |
G |
A |
15: 52,970,987 (GRCm39) |
|
probably benign |
Het |
Fam219a |
C |
T |
4: 41,518,844 (GRCm39) |
|
probably benign |
Het |
Fbxl3 |
A |
T |
14: 103,329,749 (GRCm39) |
D106E |
probably damaging |
Het |
Garem1 |
T |
C |
18: 21,369,172 (GRCm39) |
N50D |
possibly damaging |
Het |
Gins1 |
G |
A |
2: 150,751,682 (GRCm39) |
R15H |
probably damaging |
Het |
Glrx2 |
A |
G |
1: 143,617,418 (GRCm39) |
K44R |
possibly damaging |
Het |
Icam1 |
A |
G |
9: 20,937,608 (GRCm39) |
D215G |
possibly damaging |
Het |
Nedd9 |
A |
T |
13: 41,471,429 (GRCm39) |
I184N |
probably damaging |
Het |
Or10a2 |
T |
C |
7: 106,673,799 (GRCm39) |
S255P |
probably damaging |
Het |
Or1e21 |
T |
C |
11: 73,344,391 (GRCm39) |
M216V |
probably benign |
Het |
Otulinl |
C |
T |
15: 27,664,429 (GRCm39) |
|
probably null |
Het |
Rhot2 |
A |
G |
17: 26,061,065 (GRCm39) |
C147R |
probably damaging |
Het |
Setd4 |
T |
C |
16: 93,380,574 (GRCm39) |
|
probably null |
Het |
Slc6a4 |
A |
G |
11: 76,907,904 (GRCm39) |
N356S |
probably damaging |
Het |
Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
Tmem168 |
A |
C |
6: 13,595,072 (GRCm39) |
I381S |
probably benign |
Het |
Tnfrsf11b |
T |
A |
15: 54,119,555 (GRCm39) |
T140S |
possibly damaging |
Het |
Ttpa |
G |
T |
4: 20,023,827 (GRCm39) |
E130* |
probably null |
Het |
Ubr5 |
A |
G |
15: 38,078,647 (GRCm39) |
V8A |
probably damaging |
Het |
Vmn2r18 |
C |
T |
5: 151,496,368 (GRCm39) |
C450Y |
probably damaging |
Het |
Vmn2r32 |
A |
T |
7: 7,482,857 (GRCm39) |
L39* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGAGGGAATGAATCTGGCCAG -3'
(R):5'- TCCTGATTGAGTGTCCTGCG -3'
Sequencing Primer
(F):5'- TGAATCTGGCCAGGTAGGAG -3'
(R):5'- TGCGGCTCAGGTATGACAG -3'
|
Posted On |
2015-07-06 |