Incidental Mutation 'IGL03276:Slc30a9'
| ID |
415430 |
| 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 # |
IGL03276
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
67464298-67513485 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 67507260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113676]
[ENSMUST00000162372]
[ENSMUST00000202521]
|
| AlphaFold |
Q5IRJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113676
|
| SMART Domains |
Protein: ENSMUSP00000109306
Gene: ENSMUSG00000029221
| 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 benign
Transcript: ENSMUST00000162372
|
| SMART Domains |
Protein: ENSMUSP00000124047
Gene: ENSMUSG00000029221
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef25 |
A |
C |
10: 127,021,794 (GRCm39) |
F202V |
possibly damaging |
Het |
| Atrnl1 |
A |
T |
19: 57,641,359 (GRCm39) |
N336Y |
probably damaging |
Het |
| Bicc1 |
T |
C |
10: 70,789,268 (GRCm39) |
D381G |
possibly damaging |
Het |
| Cabin1 |
A |
T |
10: 75,568,247 (GRCm39) |
L912Q |
probably damaging |
Het |
| Fam83e |
A |
G |
7: 45,372,884 (GRCm39) |
D165G |
possibly damaging |
Het |
| Foxn1 |
T |
A |
11: 78,261,950 (GRCm39) |
T140S |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,416,331 (GRCm39) |
|
probably benign |
Het |
| Kctd8 |
A |
T |
5: 69,497,929 (GRCm39) |
M239K |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,838 (GRCm39) |
C7S |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,379,669 (GRCm39) |
|
probably benign |
Het |
| Klrb1b |
T |
C |
6: 128,792,168 (GRCm39) |
N191S |
probably benign |
Het |
| Krt35 |
C |
T |
11: 99,983,953 (GRCm39) |
S349N |
probably benign |
Het |
| Krt75 |
A |
T |
15: 101,476,811 (GRCm39) |
D359E |
probably damaging |
Het |
| Lipo5 |
T |
C |
19: 33,445,242 (GRCm39) |
D109G |
unknown |
Het |
| Lsm12 |
T |
G |
11: 102,073,770 (GRCm39) |
I58L |
probably benign |
Het |
| Mxd4 |
T |
C |
5: 34,335,088 (GRCm39) |
D99G |
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,163,615 (GRCm39) |
N927K |
probably damaging |
Het |
| Olfm2 |
A |
G |
9: 20,580,083 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,457,980 (GRCm39) |
V4103A |
possibly damaging |
Het |
| Snap91 |
T |
C |
9: 86,707,065 (GRCm39) |
T242A |
possibly damaging |
Het |
| Srp19 |
A |
C |
18: 34,464,843 (GRCm39) |
T28P |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 35,963,603 (GRCm39) |
V943I |
possibly damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,104,642 (GRCm39) |
E384G |
probably damaging |
Het |
| Tmem39a |
T |
A |
16: 38,405,646 (GRCm39) |
N74K |
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,749,215 (GRCm39) |
Y211C |
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 |
|
IGL00975:Slc30a9
|
APN |
5 |
67,507,169 (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 |
|
|
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 |
2016-08-02 |
Incidental Mutation