Incidental Mutation 'IGL02808:Slc30a2'
| ID |
360478 |
| 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: 0.161)
|
| Stock # |
IGL02808
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
134070492-134081795 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 134071360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 31
(I31N)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000105873
AA Change: I31N
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101499
Gene: ENSMUSG00000028836
AA Change: I31N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cation_efflux
|
74 |
311 |
3.1e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105874
AA Change: I31N
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101500
Gene: ENSMUSG00000028836
AA Change: I31N
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adk |
C |
T |
14: 21,153,901 (GRCm39) |
P35S |
probably benign |
Het |
| Ankmy1 |
T |
A |
1: 92,814,388 (GRCm39) |
D373V |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,181,859 (GRCm39) |
Y282C |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,386,677 (GRCm39) |
T371A |
probably benign |
Het |
| Bckdhb |
T |
C |
9: 83,870,898 (GRCm39) |
V136A |
probably benign |
Het |
| Ccdc18 |
G |
T |
5: 108,283,835 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
T |
A |
9: 109,712,667 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,426,859 (GRCm39) |
Y1394N |
probably damaging |
Het |
| Dhx15 |
A |
G |
5: 52,319,041 (GRCm39) |
V458A |
possibly damaging |
Het |
| Dram1 |
T |
C |
10: 88,172,786 (GRCm39) |
Y136C |
probably damaging |
Het |
| Dusp19 |
A |
G |
2: 80,447,815 (GRCm39) |
K30E |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,133,627 (GRCm39) |
|
probably benign |
Het |
| Fcho1 |
G |
A |
8: 72,165,185 (GRCm39) |
S424L |
possibly damaging |
Het |
| Ganc |
A |
G |
2: 120,241,992 (GRCm39) |
T57A |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,360,492 (GRCm39) |
Y63* |
probably null |
Het |
| Marchf6 |
A |
T |
15: 31,478,552 (GRCm39) |
N594K |
probably benign |
Het |
| Muc5ac |
C |
A |
7: 141,359,512 (GRCm39) |
T1323N |
possibly damaging |
Het |
| Mycn |
T |
C |
12: 12,989,893 (GRCm39) |
S168G |
probably benign |
Het |
| Phf11d |
G |
T |
14: 59,586,739 (GRCm39) |
Q298K |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,812,478 (GRCm39) |
Y3804N |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,677,585 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,985,526 (GRCm39) |
I1323T |
possibly damaging |
Het |
| Pyroxd2 |
T |
C |
19: 42,719,781 (GRCm39) |
E475G |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,001,985 (GRCm39) |
K1046E |
probably damaging |
Het |
| Sema7a |
C |
T |
9: 57,867,631 (GRCm39) |
A461V |
probably benign |
Het |
| Srebf1 |
C |
A |
11: 60,092,539 (GRCm39) |
|
probably null |
Het |
| Srms |
A |
T |
2: 180,849,501 (GRCm39) |
I301N |
probably damaging |
Het |
| Tmem130 |
A |
G |
5: 144,680,433 (GRCm39) |
Y324H |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,601,602 (GRCm39) |
T18654I |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,917 (GRCm39) |
T306S |
probably damaging |
Het |
|
| Other mutations in Slc30a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01321:Slc30a2
|
APN |
4 |
134,070,611 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01822:Slc30a2
|
APN |
4 |
134,075,948 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2015-12-18 |
Incidental Mutation