Incidental Mutation 'IGL03108:Slc39a14'
| ID |
419089 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc39a14
|
| Ensembl Gene |
ENSMUSG00000022094 |
| Gene Name |
solute carrier family 39 (zinc transporter), member 14 |
| Synonyms |
Zip14, G630015O18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL03108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70540918-70588874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70556368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 3
(R3W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022688]
[ENSMUST00000068044]
[ENSMUST00000127000]
[ENSMUST00000139284]
[ENSMUST00000143153]
[ENSMUST00000152067]
[ENSMUST00000151011]
[ENSMUST00000152442]
|
| AlphaFold |
Q75N73 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022688
AA Change: R3W
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022688
Gene: ENSMUSG00000022094
AA Change: R3W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
149 |
480 |
4.4e-72 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068044
AA Change: R3W
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000066108
Gene: ENSMUSG00000022094
AA Change: R3W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
149 |
480 |
5.4e-73 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127000
AA Change: R3W
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117792
Gene: ENSMUSG00000022094
AA Change: R3W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000139284
AA Change: R3W
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122615
Gene: ENSMUSG00000022094
AA Change: R3W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143153
AA Change: R3W
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146453
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152067
AA Change: R3W
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119040
Gene: ENSMUSG00000022094
AA Change: R3W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
149 |
480 |
3.3e-69 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151011
AA Change: R3W
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118319
Gene: ENSMUSG00000022094
AA Change: R3W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152442
AA Change: R3W
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117010
Gene: ENSMUSG00000022094
AA Change: R3W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152202
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A14 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for a null allele show dwarfism, scoliosis, osteopenia, short long bones, altered gluconeogenesis and chondrocyte differentiation, low plasma IGF-I and liver zinc levels. Homozygotes for another null allele show reduced liver zinc levels and hepatocyte proliferation after hepatectomy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
A |
13: 81,707,648 (GRCm39) |
V1253F |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,557,574 (GRCm39) |
W296R |
probably damaging |
Het |
| Armh3 |
G |
A |
19: 45,808,792 (GRCm39) |
T633I |
probably damaging |
Het |
| Btbd3 |
T |
C |
2: 138,126,043 (GRCm39) |
V409A |
possibly damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,820 (GRCm39) |
D291V |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,955,848 (GRCm39) |
N318D |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,945,543 (GRCm39) |
D22E |
possibly damaging |
Het |
| Chrnb2 |
G |
A |
3: 89,670,681 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,029,162 (GRCm39) |
G550D |
probably damaging |
Het |
| Cryl1 |
T |
C |
14: 57,550,534 (GRCm39) |
D110G |
probably damaging |
Het |
| Deaf1 |
A |
G |
7: 140,902,874 (GRCm39) |
I150T |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,770,747 (GRCm39) |
D33E |
possibly damaging |
Het |
| Fabp12 |
C |
A |
3: 10,315,114 (GRCm39) |
G78C |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,476,651 (GRCm39) |
D1899G |
probably damaging |
Het |
| Galnt13 |
G |
A |
2: 54,744,660 (GRCm39) |
V120I |
probably benign |
Het |
| Ganab |
G |
A |
19: 8,889,840 (GRCm39) |
A635T |
probably damaging |
Het |
| Gm17509 |
G |
A |
13: 117,357,380 (GRCm39) |
|
probably benign |
Het |
| Gstm3 |
A |
T |
3: 107,875,080 (GRCm39) |
|
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,043,800 (GRCm39) |
|
probably benign |
Het |
| Hoxd13 |
A |
C |
2: 74,500,440 (GRCm39) |
D327A |
probably damaging |
Het |
| Ints4 |
G |
T |
7: 97,140,137 (GRCm39) |
|
probably null |
Het |
| Kcna10 |
A |
T |
3: 107,102,259 (GRCm39) |
T297S |
probably benign |
Het |
| Ldb2 |
G |
A |
5: 44,699,057 (GRCm39) |
T127I |
probably damaging |
Het |
| Mapk7 |
T |
C |
11: 61,382,498 (GRCm39) |
D68G |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,357,596 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,217,402 (GRCm39) |
S2359P |
possibly damaging |
Het |
| Mup6 |
A |
T |
4: 60,005,990 (GRCm39) |
I161F |
possibly damaging |
Het |
| Nup160 |
G |
A |
2: 90,534,169 (GRCm39) |
V665I |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,073,034 (GRCm39) |
N161S |
possibly damaging |
Het |
| Or14a258 |
T |
C |
7: 86,034,929 (GRCm39) |
Y313C |
possibly damaging |
Het |
| Or4e5 |
T |
A |
14: 52,727,533 (GRCm39) |
D296V |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,900,762 (GRCm39) |
V352I |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,064,764 (GRCm39) |
V34D |
probably benign |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,944 (GRCm39) |
|
probably null |
Het |
| Pcdhb8 |
T |
G |
18: 37,490,299 (GRCm39) |
V659G |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,042,234 (GRCm39) |
N1590S |
probably benign |
Het |
| Rnf168 |
G |
T |
16: 32,097,099 (GRCm39) |
R56L |
possibly damaging |
Het |
| Scn8a |
C |
T |
15: 100,872,496 (GRCm39) |
P362S |
probably benign |
Het |
| Slc1a3 |
T |
A |
15: 8,668,562 (GRCm39) |
I468F |
probably damaging |
Het |
| Slc7a6 |
T |
A |
8: 106,921,149 (GRCm39) |
N373K |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,080,087 (GRCm39) |
S1955P |
possibly damaging |
Het |
| Stat5a |
T |
A |
11: 100,753,965 (GRCm39) |
Y98* |
probably null |
Het |
| Thsd7b |
G |
T |
1: 130,138,013 (GRCm39) |
G1564C |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,569,206 (GRCm39) |
V1351A |
possibly damaging |
Het |
|
| Other mutations in Slc39a14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02183:Slc39a14
|
APN |
14 |
70,544,134 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02348:Slc39a14
|
APN |
14 |
70,553,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03391:Slc39a14
|
APN |
14 |
70,547,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Slc39a14
|
UTSW |
14 |
70,556,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Slc39a14
|
UTSW |
14 |
70,553,885 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4726:Slc39a14
|
UTSW |
14 |
70,551,048 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4808:Slc39a14
|
UTSW |
14 |
70,553,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Slc39a14
|
UTSW |
14 |
70,547,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4957:Slc39a14
|
UTSW |
14 |
70,553,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5815:Slc39a14
|
UTSW |
14 |
70,544,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Slc39a14
|
UTSW |
14 |
70,547,262 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6464:Slc39a14
|
UTSW |
14 |
70,544,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6466:Slc39a14
|
UTSW |
14 |
70,547,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6757:Slc39a14
|
UTSW |
14 |
70,548,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Slc39a14
|
UTSW |
14 |
70,546,275 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7569:Slc39a14
|
UTSW |
14 |
70,547,276 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7711:Slc39a14
|
UTSW |
14 |
70,551,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Slc39a14
|
UTSW |
14 |
70,547,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8075:Slc39a14
|
UTSW |
14 |
70,546,247 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9171:Slc39a14
|
UTSW |
14 |
70,547,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9371:Slc39a14
|
UTSW |
14 |
70,547,569 (GRCm39) |
missense |
probably benign |
|
|
R9576:Slc39a14
|
UTSW |
14 |
70,556,235 (GRCm39) |
missense |
probably benign |
|
|
R9653:Slc39a14
|
UTSW |
14 |
70,547,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation