Incidental Mutation 'IGL00815:Slc30a1'
| ID |
14081 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc30a1
|
| Ensembl Gene |
ENSMUSG00000037434 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 1 |
| Synonyms |
Znt1, C130040I11Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191638879-191645359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 191641191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 279
(N279S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042410
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044954]
[ENSMUST00000161756]
|
| AlphaFold |
Q60738 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044954
AA Change: N279S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042410
Gene: ENSMUSG00000037434
AA Change: N279S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
11 |
278 |
7.3e-43 |
PFAM |
|
transmembrane domain
|
306 |
328 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000069573
|
| SMART Domains |
Protein: ENSMUSP00000063209
Gene: ENSMUSG00000055833
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
106 |
117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139827
|
| SMART Domains |
Protein: ENSMUSP00000136990
Gene: ENSMUSG00000055833
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
106 |
117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161756
|
| SMART Domains |
Protein: ENSMUSP00000124176
Gene: ENSMUSG00000037434
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
1 |
119 |
1.5e-17 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality soon after implantation with embryonic growth arrest at the egg cylinder stage. Embryos from heterozygous females on a zinc deficient diet develop abnormally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,981,699 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
G |
9: 51,760,713 (GRCm39) |
N819D |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,965,112 (GRCm39) |
I2061V |
probably benign |
Het |
| Chrna4 |
T |
C |
2: 180,671,184 (GRCm39) |
I191V |
probably benign |
Het |
| Crim1 |
A |
G |
17: 78,677,520 (GRCm39) |
E907G |
probably damaging |
Het |
| Cyp2d9 |
T |
A |
15: 82,340,576 (GRCm39) |
D175E |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,758,219 (GRCm39) |
|
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Fam3c |
A |
T |
6: 22,318,947 (GRCm39) |
D151E |
probably damaging |
Het |
| Far1 |
G |
A |
7: 113,139,896 (GRCm39) |
V115I |
probably benign |
Het |
| Gfap |
T |
C |
11: 102,779,516 (GRCm39) |
D427G |
possibly damaging |
Het |
| Hdac5 |
A |
G |
11: 102,088,168 (GRCm39) |
F934S |
probably damaging |
Het |
| Hyou1 |
A |
G |
9: 44,296,443 (GRCm39) |
E456G |
probably benign |
Het |
| Kl |
G |
A |
5: 150,904,315 (GRCm39) |
E356K |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,281,055 (GRCm39) |
I198T |
possibly damaging |
Het |
| Mroh9 |
C |
T |
1: 162,866,700 (GRCm39) |
V679M |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,762,167 (GRCm39) |
M1K |
probably null |
Het |
| Pkn3 |
C |
A |
2: 29,971,212 (GRCm39) |
P260T |
possibly damaging |
Het |
| Pld5 |
T |
G |
1: 175,967,585 (GRCm39) |
D28A |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,060,294 (GRCm39) |
Q1012* |
probably null |
Het |
| Ppp1ca |
A |
G |
19: 4,243,143 (GRCm39) |
I104V |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,509,909 (GRCm39) |
V64A |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,803,948 (GRCm39) |
D427G |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,735,149 (GRCm39) |
I2792V |
possibly damaging |
Het |
| Sec23a |
C |
T |
12: 59,039,068 (GRCm39) |
C248Y |
possibly damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,036,090 (GRCm39) |
|
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spic |
T |
C |
10: 88,511,729 (GRCm39) |
N176D |
probably damaging |
Het |
| Tlk2 |
C |
T |
11: 105,137,621 (GRCm39) |
Q184* |
probably null |
Het |
| Tpm4 |
T |
C |
8: 72,897,347 (GRCm39) |
I107T |
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,792,732 (GRCm39) |
C186* |
probably null |
Het |
| Txlnb |
A |
T |
10: 17,718,711 (GRCm39) |
H514L |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,887 (GRCm39) |
M183K |
probably benign |
Het |
|
| Other mutations in Slc30a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01863:Slc30a1
|
APN |
1 |
191,641,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02451:Slc30a1
|
APN |
1 |
191,639,441 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0416:Slc30a1
|
UTSW |
1 |
191,641,838 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0610:Slc30a1
|
UTSW |
1 |
191,641,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2513:Slc30a1
|
UTSW |
1 |
191,639,674 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4067:Slc30a1
|
UTSW |
1 |
191,639,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Slc30a1
|
UTSW |
1 |
191,641,160 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5359:Slc30a1
|
UTSW |
1 |
191,641,865 (GRCm39) |
makesense |
probably null |
|
|
R5473:Slc30a1
|
UTSW |
1 |
191,641,734 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5790:Slc30a1
|
UTSW |
1 |
191,640,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5984:Slc30a1
|
UTSW |
1 |
191,639,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Slc30a1
|
UTSW |
1 |
191,641,544 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7955:Slc30a1
|
UTSW |
1 |
191,639,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Slc30a1
|
UTSW |
1 |
191,639,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc30a1
|
UTSW |
1 |
191,639,639 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation