Incidental Mutation 'IGL01321:Slc30a2'
| ID |
74055 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc30a2
|
| Ensembl Gene |
ENSMUSG00000028836 |
| Gene Name |
solute carrier family 30 (zinc transporter), member 2 |
| Synonyms |
Znt2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
IGL01321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
134070492-134081795 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 134070611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 5
(D5V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101499
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081094]
[ENSMUST00000105872]
[ENSMUST00000105873]
[ENSMUST00000105874]
|
| AlphaFold |
Q2HJ10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081094
|
| SMART Domains |
Protein: ENSMUSP00000079875
Gene: ENSMUSG00000028836
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
1 |
280 |
6e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105872
|
| SMART Domains |
Protein: ENSMUSP00000101498
Gene: ENSMUSG00000028836
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
1 |
280 |
6e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105873
AA Change: D5V
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101499
Gene: ENSMUSG00000028836
AA Change: D5V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
74 |
311 |
3.1e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105874
AA Change: D5V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000101500
Gene: ENSMUSG00000028836
AA Change: D5V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
70 |
277 |
3.4e-51 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
A |
G |
4: 49,380,269 (GRCm39) |
S370P |
probably damaging |
Het |
| Adamts5 |
T |
C |
16: 85,696,363 (GRCm39) |
R265G |
probably benign |
Het |
| Cd2ap |
T |
C |
17: 43,156,280 (GRCm39) |
S86G |
possibly damaging |
Het |
| Cers3 |
A |
C |
7: 66,435,751 (GRCm39) |
|
probably benign |
Het |
| Dnaaf2 |
G |
T |
12: 69,243,376 (GRCm39) |
P562T |
probably damaging |
Het |
| Dnajc21 |
A |
C |
15: 10,447,188 (GRCm39) |
V520G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,592,041 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,304,211 (GRCm39) |
N733D |
probably benign |
Het |
| Gm5499 |
T |
A |
17: 87,385,928 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm6 |
T |
C |
3: 107,848,379 (GRCm39) |
Q180R |
probably benign |
Het |
| Hdlbp |
G |
A |
1: 93,351,524 (GRCm39) |
R460W |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,749,031 (GRCm39) |
D40G |
probably damaging |
Het |
| Igsf3 |
T |
A |
3: 101,334,338 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,383,147 (GRCm39) |
T158A |
probably benign |
Het |
| Lrrc59 |
C |
T |
11: 94,529,426 (GRCm39) |
R167* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,334,567 (GRCm39) |
C4397R |
probably damaging |
Het |
| Morc1 |
T |
C |
16: 48,402,825 (GRCm39) |
S583P |
probably benign |
Het |
| Mucl3 |
A |
T |
17: 35,947,758 (GRCm39) |
N490K |
probably damaging |
Het |
| Nipsnap2 |
T |
A |
5: 129,834,205 (GRCm39) |
*282R |
probably null |
Het |
| Or2ag19 |
T |
C |
7: 106,443,956 (GRCm39) |
L46P |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,589 (GRCm39) |
C178S |
probably damaging |
Het |
| Parp14 |
T |
A |
16: 35,676,929 (GRCm39) |
Q1013L |
probably benign |
Het |
| Pdzd8 |
A |
C |
19: 59,289,961 (GRCm39) |
S480A |
probably benign |
Het |
| Piezo1 |
A |
T |
8: 123,214,339 (GRCm39) |
S1609R |
probably damaging |
Het |
| Pkp4 |
G |
A |
2: 59,180,971 (GRCm39) |
|
probably null |
Het |
| Plpp2 |
A |
T |
10: 79,363,327 (GRCm39) |
V106D |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,863,816 (GRCm39) |
Y724C |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,501 (GRCm39) |
L852* |
probably null |
Het |
| Samd9l |
T |
A |
6: 3,376,259 (GRCm39) |
D334V |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,218,257 (GRCm39) |
T360M |
probably damaging |
Het |
| Spata31 |
T |
C |
13: 65,069,568 (GRCm39) |
I572T |
probably benign |
Het |
| Tma16 |
G |
A |
8: 66,929,512 (GRCm39) |
L161F |
probably benign |
Het |
| Trappc2b |
A |
T |
11: 51,576,670 (GRCm39) |
V76D |
probably damaging |
Het |
| Trim69 |
A |
T |
2: 122,003,765 (GRCm39) |
E238V |
possibly damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,307,388 (GRCm39) |
T205A |
probably benign |
Het |
|
| Other mutations in Slc30a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01822:Slc30a2
|
APN |
4 |
134,075,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02808:Slc30a2
|
APN |
4 |
134,071,360 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1415:Slc30a2
|
UTSW |
4 |
134,076,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2279:Slc30a2
|
UTSW |
4 |
134,075,857 (GRCm39) |
missense |
probably benign |
|
|
R4151:Slc30a2
|
UTSW |
4 |
134,071,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4278:Slc30a2
|
UTSW |
4 |
134,073,360 (GRCm39) |
missense |
probably null |
1.00 |
|
R4783:Slc30a2
|
UTSW |
4 |
134,071,317 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5823:Slc30a2
|
UTSW |
4 |
134,073,289 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7017:Slc30a2
|
UTSW |
4 |
134,074,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7018:Slc30a2
|
UTSW |
4 |
134,074,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7021:Slc30a2
|
UTSW |
4 |
134,074,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Slc30a2
|
UTSW |
4 |
134,074,653 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7053:Slc30a2
|
UTSW |
4 |
134,074,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7056:Slc30a2
|
UTSW |
4 |
134,074,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Slc30a2
|
UTSW |
4 |
134,074,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7067:Slc30a2
|
UTSW |
4 |
134,071,529 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7138:Slc30a2
|
UTSW |
4 |
134,071,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7275:Slc30a2
|
UTSW |
4 |
134,076,581 (GRCm39) |
splice site |
probably null |
|
|
R7289:Slc30a2
|
UTSW |
4 |
134,071,524 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8015:Slc30a2
|
UTSW |
4 |
134,074,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8359:Slc30a2
|
UTSW |
4 |
134,076,690 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Slc30a2
|
UTSW |
4 |
134,071,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Slc30a2
|
UTSW |
4 |
134,074,766 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation