Incidental Mutation 'IGL03404:Sfxn5'
| ID |
421550 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sfxn5
|
| Ensembl Gene |
ENSMUSG00000033720 |
| Gene Name |
sideroflexin 5 |
| Synonyms |
C230001H08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL03404
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
85190031-85310404 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 85276518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109418
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045846]
[ENSMUST00000059034]
[ENSMUST00000113788]
|
| AlphaFold |
Q925N0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045846
|
| SMART Domains |
Protein: ENSMUSP00000041872
Gene: ENSMUSG00000033720
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
Pfam:Mtc
|
34 |
342 |
2.5e-126 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059034
|
| SMART Domains |
Protein: ENSMUSP00000054648
Gene: ENSMUSG00000033720
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
Pfam:Mtc
|
34 |
292 |
2.1e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113788
|
| SMART Domains |
Protein: ENSMUSP00000109418
Gene: ENSMUSG00000033720
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
26 |
N/A |
INTRINSIC |
|
Pfam:Mtc
|
34 |
89 |
6.7e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149362
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
G |
17: 32,531,250 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,565,871 (GRCm39) |
S99P |
probably damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,616,268 (GRCm39) |
M304K |
probably benign |
Het |
| Arpc5l |
T |
C |
2: 38,903,895 (GRCm39) |
L128P |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,670,052 (GRCm39) |
I497F |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,538,200 (GRCm39) |
G616E |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,725,841 (GRCm39) |
E926G |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,876,440 (GRCm39) |
H2391L |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,249,633 (GRCm39) |
D148V |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,886,534 (GRCm39) |
M1086K |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,864 (GRCm39) |
Y543F |
probably damaging |
Het |
| Gtf3a |
T |
C |
5: 146,887,449 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,296,409 (GRCm39) |
Y3646F |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,310,492 (GRCm39) |
D425G |
probably damaging |
Het |
| Lipo3 |
A |
C |
19: 33,560,440 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
C |
17: 75,532,301 (GRCm39) |
K443T |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,069,310 (GRCm39) |
I497T |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,129,459 (GRCm39) |
D842G |
probably benign |
Het |
| Or10j3 |
T |
C |
1: 173,031,766 (GRCm39) |
V281A |
probably benign |
Het |
| Or52s6 |
A |
T |
7: 103,092,195 (GRCm39) |
V45E |
possibly damaging |
Het |
| Or6n1 |
A |
G |
1: 173,917,464 (GRCm39) |
N286S |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,520,372 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
A |
T |
17: 24,783,380 (GRCm39) |
I120L |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,020,739 (GRCm39) |
N401S |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,436 (GRCm39) |
H923R |
possibly damaging |
Het |
| Rrp8 |
T |
C |
7: 105,384,145 (GRCm39) |
K119R |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,440,407 (GRCm39) |
Y211* |
probably null |
Het |
| Sun5 |
T |
C |
2: 153,712,924 (GRCm39) |
|
probably benign |
Het |
| Tnks |
A |
T |
8: 35,407,858 (GRCm39) |
V290D |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,769,996 (GRCm39) |
P2740L |
probably benign |
Het |
| Ttc23 |
G |
T |
7: 67,328,645 (GRCm39) |
L195F |
probably damaging |
Het |
| Tubb1 |
G |
T |
2: 174,299,241 (GRCm39) |
G308C |
probably damaging |
Het |
| Vmn1r217 |
A |
T |
13: 23,298,810 (GRCm39) |
F31I |
probably benign |
Het |
| Zp1 |
A |
T |
19: 10,891,825 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sfxn5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02991:Sfxn5
|
UTSW |
6 |
85,266,190 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0513:Sfxn5
|
UTSW |
6 |
85,246,955 (GRCm39) |
splice site |
probably benign |
|
|
R0734:Sfxn5
|
UTSW |
6 |
85,244,847 (GRCm39) |
splice site |
probably benign |
|
|
R1510:Sfxn5
|
UTSW |
6 |
85,213,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Sfxn5
|
UTSW |
6 |
85,244,927 (GRCm39) |
splice site |
probably benign |
|
|
R2483:Sfxn5
|
UTSW |
6 |
85,309,260 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3732:Sfxn5
|
UTSW |
6 |
85,276,258 (GRCm39) |
intron |
probably benign |
|
|
R3732:Sfxn5
|
UTSW |
6 |
85,276,258 (GRCm39) |
intron |
probably benign |
|
|
R3733:Sfxn5
|
UTSW |
6 |
85,276,258 (GRCm39) |
intron |
probably benign |
|
|
R4199:Sfxn5
|
UTSW |
6 |
85,192,724 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4212:Sfxn5
|
UTSW |
6 |
85,309,288 (GRCm39) |
nonsense |
probably null |
|
|
R4850:Sfxn5
|
UTSW |
6 |
85,309,358 (GRCm39) |
unclassified |
probably benign |
|
|
R5485:Sfxn5
|
UTSW |
6 |
85,309,582 (GRCm39) |
unclassified |
probably benign |
|
|
R6193:Sfxn5
|
UTSW |
6 |
85,246,918 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6613:Sfxn5
|
UTSW |
6 |
85,246,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6997:Sfxn5
|
UTSW |
6 |
85,233,414 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7078:Sfxn5
|
UTSW |
6 |
85,309,366 (GRCm39) |
missense |
unknown |
|
|
R7154:Sfxn5
|
UTSW |
6 |
85,309,405 (GRCm39) |
missense |
unknown |
|
|
R7406:Sfxn5
|
UTSW |
6 |
85,244,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Sfxn5
|
UTSW |
6 |
85,244,921 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8810:Sfxn5
|
UTSW |
6 |
85,206,182 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8960:Sfxn5
|
UTSW |
6 |
85,266,176 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9646:Sfxn5
|
UTSW |
6 |
85,266,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sfxn5
|
UTSW |
6 |
85,206,232 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Posted On |
2016-08-02 |
Incidental Mutation