Incidental Mutation 'R4162:Saxo5'
| ID |
321564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Saxo5
|
| Ensembl Gene |
ENSMUSG00000040340 |
| Gene Name |
stabilizer of axonemal microtubules 5 |
| Synonyms |
1700019B03Rik, Tex45 |
| MMRRC Submission |
041005-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4162 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
3520862-3537181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 3529067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 214
(P214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047265]
[ENSMUST00000159076]
[ENSMUST00000161680]
|
| AlphaFold |
G3XA23 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047265
AA Change: P214L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043586
Gene: ENSMUSG00000040340
AA Change: P214L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4601
|
58 |
499 |
7.4e-238 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159076
AA Change: P214L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123746
Gene: ENSMUSG00000040340
AA Change: P214L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4601
|
58 |
339 |
1.3e-144 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161680
AA Change: P214L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124916
Gene: ENSMUSG00000040340
AA Change: P214L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4601
|
58 |
499 |
3e-231 |
PFAM |
|
| Meta Mutation Damage Score |
0.4428 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
93% (38/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
A |
10: 83,342,518 (GRCm39) |
I431F |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,836,148 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
C |
T |
9: 13,723,929 (GRCm39) |
|
probably null |
Het |
| Cgas |
G |
A |
9: 78,341,686 (GRCm39) |
R364C |
probably damaging |
Het |
| Cybc1 |
T |
C |
11: 121,115,492 (GRCm39) |
D109G |
probably damaging |
Het |
| Defb41 |
C |
T |
1: 18,330,821 (GRCm39) |
C42Y |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Gli3 |
G |
T |
13: 15,899,700 (GRCm39) |
S1029I |
possibly damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,867,202 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,507,042 (GRCm39) |
K478E |
probably damaging |
Het |
| Il18 |
T |
C |
9: 50,490,712 (GRCm39) |
S116P |
probably damaging |
Het |
| Itsn1 |
C |
A |
16: 91,649,790 (GRCm39) |
P155T |
probably benign |
Het |
| Kdm5b |
C |
T |
1: 134,552,899 (GRCm39) |
P1292S |
probably benign |
Het |
| Mef2b |
T |
C |
8: 70,618,961 (GRCm39) |
F181S |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,617,147 (GRCm39) |
|
probably benign |
Het |
| Mfsd12 |
A |
G |
10: 81,196,931 (GRCm39) |
|
probably null |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Nrxn2 |
G |
A |
19: 6,582,173 (GRCm39) |
V660I |
probably damaging |
Het |
| Nsun4 |
G |
T |
4: 115,891,391 (GRCm39) |
Y329* |
probably null |
Het |
| Pank4 |
T |
C |
4: 155,064,051 (GRCm39) |
|
probably null |
Het |
| Plcb2 |
T |
A |
2: 118,540,068 (GRCm39) |
E1075V |
probably damaging |
Het |
| Prep |
G |
T |
10: 44,943,458 (GRCm39) |
R11L |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,323,154 (GRCm39) |
F461L |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,628,770 (GRCm39) |
Y138H |
probably damaging |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,071,586 (GRCm39) |
S2378P |
probably damaging |
Het |
| Thap12 |
C |
T |
7: 98,359,285 (GRCm39) |
|
probably benign |
Het |
| Trav3-1 |
T |
C |
14: 52,818,496 (GRCm39) |
Y57H |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,857,994 (GRCm39) |
|
probably null |
Het |
| Tubgcp3 |
C |
T |
8: 12,689,547 (GRCm39) |
R573Q |
possibly damaging |
Het |
| Ush2a |
A |
C |
1: 188,475,877 (GRCm39) |
K2938T |
probably benign |
Het |
| Vasp |
A |
T |
7: 18,993,397 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
A |
8: 109,683,619 (GRCm39) |
T3686K |
unknown |
Het |
|
| Other mutations in Saxo5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02418:Saxo5
|
APN |
8 |
3,526,080 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02717:Saxo5
|
APN |
8 |
3,536,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Saxo5
|
UTSW |
8 |
3,526,062 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1842:Saxo5
|
UTSW |
8 |
3,533,668 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1928:Saxo5
|
UTSW |
8 |
3,536,947 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2202:Saxo5
|
UTSW |
8 |
3,529,028 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2224:Saxo5
|
UTSW |
8 |
3,529,249 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2227:Saxo5
|
UTSW |
8 |
3,529,249 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4413:Saxo5
|
UTSW |
8 |
3,533,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4441:Saxo5
|
UTSW |
8 |
3,526,105 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4807:Saxo5
|
UTSW |
8 |
3,529,004 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4869:Saxo5
|
UTSW |
8 |
3,537,148 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5753:Saxo5
|
UTSW |
8 |
3,534,112 (GRCm39) |
missense |
probably benign |
|
|
R6457:Saxo5
|
UTSW |
8 |
3,529,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Saxo5
|
UTSW |
8 |
3,526,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7186:Saxo5
|
UTSW |
8 |
3,529,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7386:Saxo5
|
UTSW |
8 |
3,537,079 (GRCm39) |
missense |
probably benign |
|
|
R7609:Saxo5
|
UTSW |
8 |
3,526,057 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7738:Saxo5
|
UTSW |
8 |
3,533,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Saxo5
|
UTSW |
8 |
3,526,083 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9169:Saxo5
|
UTSW |
8 |
3,525,967 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9473:Saxo5
|
UTSW |
8 |
3,529,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9732:Saxo5
|
UTSW |
8 |
3,526,167 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Saxo5
|
UTSW |
8 |
3,526,213 (GRCm39) |
missense |
probably benign |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTGGGTAGAGTTCCAG -3'
(R):5'- GAGAGAGTGGCCTTTGTACC -3'
Sequencing Primer
(F):5'- AGAGTTCCAGGTGGCCTTAAG -3'
(R):5'- TAGGTCTGCTTCACGAGGGAAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation