Incidental Mutation 'IGL01863:Slc30a1'
| ID |
178410 |
| 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 # |
IGL01863
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191638879-191645359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 191641196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 281
(C281S)
|
| 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: C281S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042410
Gene: ENSMUSG00000037434
AA Change: C281S
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
T |
A |
10: 42,215,907 (GRCm39) |
I326F |
possibly damaging |
Het |
| Aimp1 |
T |
C |
3: 132,377,853 (GRCm39) |
T171A |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,892,813 (GRCm39) |
L1564* |
probably null |
Het |
| Atp1a1 |
G |
T |
3: 101,499,205 (GRCm39) |
Y131* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,301,338 (GRCm39) |
E2686G |
probably benign |
Het |
| Cyp4f18 |
A |
G |
8: 72,743,770 (GRCm39) |
V395A |
possibly damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,268,823 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
T |
C |
4: 136,387,088 (GRCm39) |
Q713R |
probably benign |
Het |
| Esf1 |
A |
T |
2: 139,962,599 (GRCm39) |
M824K |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,024,768 (GRCm39) |
|
probably benign |
Het |
| Gem |
A |
G |
4: 11,705,980 (GRCm39) |
I23V |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Il6st |
A |
G |
13: 112,640,744 (GRCm39) |
E779G |
possibly damaging |
Het |
| Lama3 |
T |
A |
18: 12,552,993 (GRCm39) |
|
probably benign |
Het |
| Lipi |
A |
C |
16: 75,347,114 (GRCm39) |
I435R |
probably damaging |
Het |
| Odad2 |
T |
C |
18: 7,222,617 (GRCm39) |
T551A |
probably damaging |
Het |
| Omg |
C |
T |
11: 79,393,050 (GRCm39) |
M269I |
probably benign |
Het |
| Optn |
A |
T |
2: 5,026,298 (GRCm39) |
|
probably benign |
Het |
| Or5ae2 |
T |
C |
7: 84,505,619 (GRCm39) |
L14P |
probably damaging |
Het |
| Pex1 |
A |
G |
5: 3,656,066 (GRCm39) |
T298A |
probably benign |
Het |
| Rab27b |
T |
A |
18: 70,122,625 (GRCm39) |
R111S |
probably damaging |
Het |
| Rhbdf1 |
T |
G |
11: 32,163,484 (GRCm39) |
E329D |
probably benign |
Het |
| Slc2a13 |
T |
C |
15: 91,400,695 (GRCm39) |
I176V |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,762,430 (GRCm38) |
C509S |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,872,151 (GRCm39) |
R862G |
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,607,064 (GRCm39) |
I782T |
possibly damaging |
Het |
| Tent5c |
C |
T |
3: 100,379,980 (GRCm39) |
D259N |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps33b |
T |
C |
7: 79,924,059 (GRCm39) |
|
probably null |
Het |
| Wrap73 |
A |
G |
4: 154,229,790 (GRCm39) |
I54V |
probably benign |
Het |
|
| Other mutations in Slc30a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00815:Slc30a1
|
APN |
1 |
191,641,191 (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 |
2014-05-07 |
Incidental Mutation