Incidental Mutation 'R6625:Saxo4'
ID |
524772 |
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 |
044747-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6625 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
10451599-10460292 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 10459100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 65
(P65L)
|
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: P65L
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
91% (30/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Apcdd1 |
C |
A |
18: 63,084,929 (GRCm39) |
D375E |
probably damaging |
Het |
Cacna2d1 |
A |
T |
5: 16,567,391 (GRCm39) |
R984W |
probably null |
Het |
Csmd3 |
T |
G |
15: 47,470,471 (GRCm39) |
I3402L |
probably benign |
Het |
Dnah7a |
T |
A |
1: 53,604,916 (GRCm39) |
T1281S |
probably benign |
Het |
Dnmt3b |
T |
C |
2: 153,507,233 (GRCm39) |
I139T |
probably benign |
Het |
Dtnbp1 |
T |
C |
13: 45,145,507 (GRCm39) |
E40G |
possibly damaging |
Het |
Fam162b |
C |
T |
10: 51,466,391 (GRCm39) |
G43R |
probably damaging |
Het |
G2e3 |
T |
G |
12: 51,400,572 (GRCm39) |
|
probably null |
Het |
Kiss1r |
G |
A |
10: 79,755,368 (GRCm39) |
V118I |
possibly damaging |
Het |
Mre11a |
T |
C |
9: 14,716,687 (GRCm39) |
M294T |
possibly damaging |
Het |
Muc16 |
A |
T |
9: 18,571,574 (GRCm39) |
V315D |
unknown |
Het |
Nelfe |
C |
T |
17: 35,073,334 (GRCm39) |
P290S |
probably benign |
Het |
Or2v2 |
T |
A |
11: 49,003,896 (GRCm39) |
Y219F |
probably damaging |
Het |
Or5a3 |
T |
G |
19: 12,400,205 (GRCm39) |
H177Q |
probably damaging |
Het |
Pcolce2 |
T |
A |
9: 95,560,492 (GRCm39) |
C180* |
probably null |
Het |
Piezo2 |
A |
T |
18: 63,154,333 (GRCm39) |
V2482D |
probably damaging |
Het |
Plagl1 |
T |
C |
10: 13,003,806 (GRCm39) |
|
probably benign |
Het |
Pramel31 |
T |
A |
4: 144,090,369 (GRCm39) |
Y470N |
probably damaging |
Het |
Pramel57 |
C |
T |
5: 95,669,342 (GRCm39) |
H124Y |
possibly damaging |
Het |
Prss48 |
G |
T |
3: 85,905,373 (GRCm39) |
Q167K |
probably benign |
Het |
Scyl1 |
C |
A |
19: 5,810,854 (GRCm39) |
V488F |
probably damaging |
Het |
Sh3pxd2b |
T |
A |
11: 32,372,594 (GRCm39) |
L587Q |
possibly damaging |
Het |
Sim1 |
A |
G |
10: 50,860,082 (GRCm39) |
D648G |
probably benign |
Het |
Snupn |
G |
A |
9: 56,890,054 (GRCm39) |
V292I |
probably benign |
Het |
St6galnac1 |
T |
C |
11: 116,656,717 (GRCm39) |
H474R |
probably damaging |
Het |
Thap12 |
G |
A |
7: 98,365,277 (GRCm39) |
V482I |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,949,025 (GRCm39) |
V454D |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,894,935 (GRCm39) |
I862V |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,693,177 (GRCm39) |
F474L |
probably benign |
Het |
Zbtb38 |
T |
C |
9: 96,569,366 (GRCm39) |
R573G |
probably damaging |
Het |
Zfp493 |
C |
T |
13: 67,934,514 (GRCm39) |
Q156* |
probably null |
Het |
Zfp873 |
C |
A |
10: 81,896,138 (GRCm39) |
P290T |
probably damaging |
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 |
R6388:Saxo4
|
UTSW |
19 |
10,459,665 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACTTATTCCCAGGAGCATCATCTC -3'
(R):5'- TTAGGGTTCCTTAGGCCCTG -3'
Sequencing Primer
(F):5'- AATGTTTTAAGAGTCCTTCTTGGCC -3'
(R):5'- CTGGTGGCTGCTGGCTC -3'
|
Posted On |
2018-06-22 |