Incidental Mutation 'IGL00975:Slc30a9'
| ID |
27528 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc30a9
|
| Ensembl Gene |
ENSMUSG00000029221 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 9 |
| Synonyms |
GAC63, 2310024J23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.916)
|
| Stock # |
IGL00975
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
67464298-67513485 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67507169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 487
(V487A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113676]
[ENSMUST00000162372]
[ENSMUST00000202521]
|
| AlphaFold |
Q5IRJ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113676
AA Change: V467A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109306
Gene: ENSMUSG00000029221
AA Change: V467A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
PDB:2ENK|A
|
103 |
196 |
2e-54 |
PDB |
|
SCOP:d1d4ua1
|
106 |
174 |
3e-28 |
SMART |
|
Pfam:Cation_efflux
|
219 |
547 |
1.6e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161169
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162372
AA Change: V487A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124047
Gene: ENSMUSG00000029221
AA Change: V487A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
PDB:2ENK|A
|
123 |
216 |
2e-54 |
PDB |
|
SCOP:d1d4ua1
|
126 |
194 |
5e-28 |
SMART |
|
Pfam:Cation_efflux
|
239 |
449 |
1e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202521
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn10 |
A |
T |
15: 85,220,666 (GRCm39) |
M1L |
probably benign |
Het |
| Atxn7l3 |
A |
G |
11: 102,185,807 (GRCm39) |
S3P |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,325,012 (GRCm39) |
D70G |
probably damaging |
Het |
| Col20a1 |
G |
A |
2: 180,634,271 (GRCm39) |
A79T |
probably damaging |
Het |
| Cycs |
T |
A |
6: 50,542,347 (GRCm39) |
D63V |
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,316,670 (GRCm39) |
V855A |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,150,373 (GRCm39) |
I797F |
possibly damaging |
Het |
| Dpagt1 |
T |
C |
9: 44,243,949 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,227,393 (GRCm39) |
I1840T |
possibly damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,514,856 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
C |
T |
5: 138,794,912 (GRCm39) |
H514Y |
probably benign |
Het |
| Fgd6 |
A |
T |
10: 93,969,938 (GRCm39) |
M1196L |
probably damaging |
Het |
| Fmo3 |
T |
C |
1: 162,791,599 (GRCm39) |
D226G |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,682,187 (GRCm39) |
L263P |
probably damaging |
Het |
| Gaa |
C |
A |
11: 119,165,509 (GRCm39) |
T333K |
possibly damaging |
Het |
| Gm10530 |
T |
C |
1: 159,512,444 (GRCm39) |
|
probably benign |
Het |
| Gm5458 |
A |
G |
14: 19,649,735 (GRCm39) |
L163P |
|
Het |
| Inpp5j |
T |
C |
11: 3,452,176 (GRCm39) |
N358S |
probably damaging |
Het |
| Ms4a8a |
A |
G |
19: 11,048,151 (GRCm39) |
L193P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,102,740 (GRCm39) |
K4511R |
probably benign |
Het |
| Odad1 |
A |
T |
7: 45,592,080 (GRCm39) |
K320I |
probably damaging |
Het |
| Or5an10 |
A |
G |
19: 12,276,149 (GRCm39) |
S116P |
probably damaging |
Het |
| Pcca |
A |
G |
14: 123,114,312 (GRCm39) |
D82G |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,048,679 (GRCm39) |
T266A |
probably benign |
Het |
| Ppp1r26 |
T |
A |
2: 28,343,730 (GRCm39) |
L1120Q |
probably damaging |
Het |
| Pudp |
T |
G |
18: 50,701,349 (GRCm39) |
K128T |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,225,174 (GRCm39) |
T94A |
possibly damaging |
Het |
| Six5 |
T |
C |
7: 18,831,603 (GRCm39) |
L698P |
probably damaging |
Het |
| Slc13a4 |
T |
A |
6: 35,251,910 (GRCm39) |
M461L |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 96,990,908 (GRCm39) |
I257V |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,553,731 (GRCm39) |
D382G |
probably benign |
Het |
| Trim34b |
C |
A |
7: 103,978,859 (GRCm39) |
C35* |
probably null |
Het |
| Usp47 |
A |
G |
7: 111,692,577 (GRCm39) |
D1013G |
probably damaging |
Het |
|
| Other mutations in Slc30a9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00792:Slc30a9
|
APN |
5 |
67,499,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01129:Slc30a9
|
APN |
5 |
67,499,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01377:Slc30a9
|
APN |
5 |
67,473,173 (GRCm39) |
missense |
probably benign |
|
|
IGL01785:Slc30a9
|
APN |
5 |
67,503,581 (GRCm39) |
splice site |
probably benign |
|
|
IGL01786:Slc30a9
|
APN |
5 |
67,503,581 (GRCm39) |
splice site |
probably benign |
|
|
IGL02407:Slc30a9
|
APN |
5 |
67,510,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03185:Slc30a9
|
APN |
5 |
67,490,406 (GRCm39) |
missense |
probably benign |
|
|
IGL03276:Slc30a9
|
APN |
5 |
67,507,260 (GRCm39) |
splice site |
probably benign |
|
|
IGL03380:Slc30a9
|
APN |
5 |
67,473,054 (GRCm39) |
missense |
probably benign |
0.04 |
|
ANU74:Slc30a9
|
UTSW |
5 |
67,507,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Slc30a9
|
UTSW |
5 |
67,491,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:Slc30a9
|
UTSW |
5 |
67,510,005 (GRCm39) |
missense |
probably benign |
|
|
R1554:Slc30a9
|
UTSW |
5 |
67,484,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Slc30a9
|
UTSW |
5 |
67,505,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Slc30a9
|
UTSW |
5 |
67,497,318 (GRCm39) |
nonsense |
probably null |
|
|
R4385:Slc30a9
|
UTSW |
5 |
67,473,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4704:Slc30a9
|
UTSW |
5 |
67,499,616 (GRCm39) |
intron |
probably benign |
|
|
R4868:Slc30a9
|
UTSW |
5 |
67,482,026 (GRCm39) |
missense |
probably benign |
|
|
R4907:Slc30a9
|
UTSW |
5 |
67,503,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5553:Slc30a9
|
UTSW |
5 |
67,502,947 (GRCm39) |
splice site |
probably null |
|
|
R6002:Slc30a9
|
UTSW |
5 |
67,499,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6477:Slc30a9
|
UTSW |
5 |
67,485,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6718:Slc30a9
|
UTSW |
5 |
67,490,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Slc30a9
|
UTSW |
5 |
67,484,205 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7224:Slc30a9
|
UTSW |
5 |
67,473,044 (GRCm39) |
missense |
probably benign |
|
|
R7327:Slc30a9
|
UTSW |
5 |
67,499,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Slc30a9
|
UTSW |
5 |
67,510,109 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7467:Slc30a9
|
UTSW |
5 |
67,502,987 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7514:Slc30a9
|
UTSW |
5 |
67,505,421 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8020:Slc30a9
|
UTSW |
5 |
67,464,376 (GRCm39) |
start gained |
probably benign |
|
|
R8299:Slc30a9
|
UTSW |
5 |
67,484,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Slc30a9
|
UTSW |
5 |
67,473,058 (GRCm39) |
nonsense |
probably null |
|
|
R8882:Slc30a9
|
UTSW |
5 |
67,473,044 (GRCm39) |
nonsense |
probably null |
|
|
R9079:Slc30a9
|
UTSW |
5 |
67,484,241 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9365:Slc30a9
|
UTSW |
5 |
67,507,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9431:Slc30a9
|
UTSW |
5 |
67,505,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Slc30a9
|
UTSW |
5 |
67,497,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation