Incidental Mutation 'IGL01786:Slc30a9'
| ID |
278919 |
| 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 # |
IGL01786
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
67464298-67513485 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 67503581 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: ENSMUST00000200734
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202521
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
T |
A |
8: 25,486,855 (GRCm39) |
H20L |
probably damaging |
Het |
| Ano3 |
T |
A |
2: 110,513,060 (GRCm39) |
Q645L |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,425,466 (GRCm39) |
L272Q |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,497,219 (GRCm39) |
N532S |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,279,137 (GRCm39) |
D468E |
probably benign |
Het |
| Hk2 |
A |
G |
6: 82,716,534 (GRCm39) |
S333P |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,116,936 (GRCm39) |
T398A |
probably benign |
Het |
| Klra8 |
T |
A |
6: 130,096,031 (GRCm39) |
|
probably null |
Het |
| Mcm8 |
A |
G |
2: 132,669,868 (GRCm39) |
D314G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,733,393 (GRCm39) |
D80E |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,085,946 (GRCm39) |
Q36R |
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,156,330 (GRCm39) |
S726P |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,338,052 (GRCm39) |
S242G |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,030,083 (GRCm39) |
Y265* |
probably null |
Het |
| Or12j3 |
T |
A |
7: 139,953,038 (GRCm39) |
M162L |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,641 (GRCm39) |
T132I |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,624,208 (GRCm39) |
D278G |
probably benign |
Het |
| Papolg |
A |
G |
11: 23,824,488 (GRCm39) |
V298A |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,296,479 (GRCm39) |
D847G |
possibly damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,179,881 (GRCm39) |
F110L |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,936,896 (GRCm39) |
T1638S |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,188 (GRCm39) |
Q106* |
probably null |
Het |
| Rnf32 |
T |
C |
5: 29,411,812 (GRCm39) |
|
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,263,782 (GRCm39) |
Y650C |
probably damaging |
Het |
| Sv2a |
A |
T |
3: 96,095,525 (GRCm39) |
Y306F |
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,758 (GRCm39) |
E153G |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,715 (GRCm39) |
|
probably null |
Het |
| Trarg1 |
G |
A |
11: 76,571,292 (GRCm39) |
V103I |
probably benign |
Het |
| Usp20 |
A |
G |
2: 30,907,175 (GRCm39) |
E594G |
probably benign |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation