Incidental Mutation 'IGL00561:Slc30a7'
| ID |
14083 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc30a7
|
| Ensembl Gene |
ENSMUSG00000054414 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 7 |
| Synonyms |
ZnT7, 4833428C12Rik, 2610034N15Rik, 1810059J10Rik, ZnT-7 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.781)
|
| Stock # |
IGL00561
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
115732622-115801055 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 115740369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067485]
[ENSMUST00000067485]
[ENSMUST00000067485]
|
| AlphaFold |
Q9JKN1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067485
|
| SMART Domains |
Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
38 |
296 |
3.3e-46 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000067485
|
| SMART Domains |
Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
38 |
296 |
3.3e-46 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000067485
|
| SMART Domains |
Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
38 |
296 |
3.3e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199743
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a low body zinc status, reduced food intake and poor body weight gain, and are lean due to a significant reduction in body fat accumulation; however, no signs of hair growth abnormalities or dermatitis are observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
T |
A |
4: 73,860,956 (GRCm39) |
T215S |
possibly damaging |
Het |
| Bcl6b |
T |
C |
11: 70,119,310 (GRCm39) |
|
probably benign |
Het |
| C8a |
G |
A |
4: 104,722,642 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
G |
A |
2: 125,405,643 (GRCm39) |
Q1630* |
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
| Elovl5 |
G |
A |
9: 77,868,256 (GRCm39) |
R56Q |
probably benign |
Het |
| Fcf1 |
T |
C |
12: 85,019,835 (GRCm39) |
V36A |
probably benign |
Het |
| Gdf3 |
A |
G |
6: 122,584,085 (GRCm39) |
L94P |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,450,836 (GRCm39) |
H705L |
probably damaging |
Het |
| Ly75 |
A |
T |
2: 60,206,421 (GRCm39) |
C83S |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,135,245 (GRCm39) |
S798T |
probably benign |
Het |
| Morc3 |
G |
T |
16: 93,670,283 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,096,117 (GRCm39) |
N1049K |
probably benign |
Het |
| Nlrp6 |
A |
G |
7: 140,503,037 (GRCm39) |
D381G |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 82,042,827 (GRCm39) |
D2303V |
probably damaging |
Het |
| Prss45 |
A |
T |
9: 110,669,578 (GRCm39) |
N227I |
probably damaging |
Het |
| Rbbp6 |
G |
A |
7: 122,570,286 (GRCm39) |
M34I |
probably damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,684,042 (GRCm39) |
Y267H |
probably benign |
Het |
| Snw1 |
A |
G |
12: 87,497,574 (GRCm39) |
|
probably null |
Het |
| Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
| Tbx19 |
A |
G |
1: 164,987,968 (GRCm39) |
V55A |
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,850,508 (GRCm39) |
S1059P |
probably damaging |
Het |
| Tpo |
G |
A |
12: 30,134,619 (GRCm39) |
P780S |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,570,055 (GRCm39) |
T26946M |
probably damaging |
Het |
| Vps33b |
A |
G |
7: 79,935,591 (GRCm39) |
E372G |
probably damaging |
Het |
| Vwf |
T |
C |
6: 125,619,684 (GRCm39) |
V1454A |
possibly damaging |
Het |
| Zbbx |
C |
T |
3: 74,968,839 (GRCm39) |
|
probably null |
Het |
| Zfp747l1 |
T |
A |
7: 126,985,716 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc30a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01161:Slc30a7
|
APN |
3 |
115,747,759 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01360:Slc30a7
|
APN |
3 |
115,783,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02573:Slc30a7
|
APN |
3 |
115,783,796 (GRCm39) |
splice site |
probably benign |
|
|
R0833:Slc30a7
|
UTSW |
3 |
115,783,789 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0836:Slc30a7
|
UTSW |
3 |
115,783,789 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1381:Slc30a7
|
UTSW |
3 |
115,750,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2445:Slc30a7
|
UTSW |
3 |
115,772,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4072:Slc30a7
|
UTSW |
3 |
115,740,329 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4850:Slc30a7
|
UTSW |
3 |
115,786,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5429:Slc30a7
|
UTSW |
3 |
115,800,574 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5586:Slc30a7
|
UTSW |
3 |
115,783,700 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6170:Slc30a7
|
UTSW |
3 |
115,784,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Slc30a7
|
UTSW |
3 |
115,775,460 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6889:Slc30a7
|
UTSW |
3 |
115,747,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:Slc30a7
|
UTSW |
3 |
115,800,995 (GRCm39) |
unclassified |
probably benign |
|
|
R8872:Slc30a7
|
UTSW |
3 |
115,740,317 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
X0023:Slc30a7
|
UTSW |
3 |
115,783,674 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation