Incidental Mutation 'R4808:Slc39a14'
| ID |
370851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc39a14
|
| Ensembl Gene |
ENSMUSG00000022094 |
| Gene Name |
solute carrier family 39 (zinc transporter), member 14 |
| Synonyms |
Zip14, G630015O18Rik |
| MMRRC Submission |
042427-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R4808 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70540918-70588874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70553250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 162
(I162V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022688]
[ENSMUST00000068044]
[ENSMUST00000127000]
[ENSMUST00000139284]
[ENSMUST00000143153]
[ENSMUST00000152442]
[ENSMUST00000152067]
[ENSMUST00000151011]
|
| AlphaFold |
Q75N73 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022688
AA Change: I162V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022688
Gene: ENSMUSG00000022094
AA Change: I162V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
149 |
480 |
4.4e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068044
|
| SMART Domains |
Protein: ENSMUSP00000066108
Gene: ENSMUSG00000022094
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
149 |
480 |
5.4e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127000
|
| SMART Domains |
Protein: ENSMUSP00000117792
Gene: ENSMUSG00000022094
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139284
|
| SMART Domains |
Protein: ENSMUSP00000122615
Gene: ENSMUSG00000022094
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146453
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152442
AA Change: I162V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117010
Gene: ENSMUSG00000022094
AA Change: I162V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152067
AA Change: I162V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119040
Gene: ENSMUSG00000022094
AA Change: I162V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
149 |
480 |
3.3e-69 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152202
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155825
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151011
|
| SMART Domains |
Protein: ENSMUSP00000118319
Gene: ENSMUSG00000022094
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0973 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
99% (71/72) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Abi3bp |
A |
G |
16: 56,414,879 (GRCm39) |
D347G |
probably damaging |
Het |
| Adora2a |
A |
G |
10: 75,169,280 (GRCm39) |
N248S |
probably damaging |
Het |
| Agap3 |
T |
C |
5: 24,706,243 (GRCm39) |
F836L |
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,887,984 (GRCm39) |
T454M |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atm |
A |
G |
9: 53,356,795 (GRCm39) |
S2819P |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,694,782 (GRCm39) |
F500S |
probably benign |
Het |
| Catsper1 |
G |
A |
19: 5,394,164 (GRCm39) |
D682N |
possibly damaging |
Het |
| Chordc1 |
A |
G |
9: 18,203,709 (GRCm39) |
Y6C |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,088,756 (GRCm39) |
K273R |
probably damaging |
Het |
| Crat |
T |
C |
2: 30,300,033 (GRCm39) |
I116V |
probably benign |
Het |
| Cyp26a1 |
A |
G |
19: 37,689,573 (GRCm39) |
H423R |
probably benign |
Het |
| Cyp4f40 |
A |
G |
17: 32,893,249 (GRCm39) |
E360G |
probably benign |
Het |
| D430041D05Rik |
A |
C |
2: 104,031,455 (GRCm39) |
|
probably null |
Het |
| Eif3i |
A |
T |
4: 129,485,857 (GRCm39) |
F323I |
probably benign |
Het |
| Fam53a |
A |
G |
5: 33,765,023 (GRCm39) |
S228P |
probably damaging |
Het |
| Gm10305 |
C |
T |
4: 99,161,481 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7347 |
C |
T |
5: 26,259,995 (GRCm39) |
R185H |
probably benign |
Het |
| Golga2 |
G |
T |
2: 32,193,226 (GRCm39) |
A441S |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,701,654 (GRCm39) |
S608T |
probably benign |
Het |
| Gramd1b |
A |
T |
9: 40,215,645 (GRCm39) |
V620E |
possibly damaging |
Het |
| H2bc18 |
T |
G |
3: 96,177,329 (GRCm39) |
S88A |
probably benign |
Het |
| H2-M9 |
T |
C |
17: 36,951,684 (GRCm39) |
T264A |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hsd3b6 |
G |
A |
3: 98,713,601 (GRCm39) |
H233Y |
probably damaging |
Het |
| Ighv6-7 |
T |
A |
12: 114,419,341 (GRCm39) |
R88* |
probably null |
Het |
| Jup |
C |
T |
11: 100,269,018 (GRCm39) |
R465H |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,699,278 (GRCm39) |
Y101N |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Mapkap1 |
G |
A |
2: 34,487,434 (GRCm39) |
|
probably null |
Het |
| Myocos |
T |
C |
1: 162,484,609 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
C |
T |
1: 135,382,942 (GRCm39) |
G1197S |
probably damaging |
Het |
| Oas1g |
T |
G |
5: 121,017,385 (GRCm39) |
K223T |
possibly damaging |
Het |
| Oprd1 |
G |
A |
4: 131,844,705 (GRCm39) |
T101M |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,146 (GRCm39) |
D92G |
probably benign |
Het |
| Or51g2 |
T |
C |
7: 102,623,118 (GRCm39) |
H27R |
probably damaging |
Het |
| Pcdha7 |
G |
A |
18: 37,107,281 (GRCm39) |
C102Y |
probably damaging |
Het |
| Pcx |
T |
A |
19: 4,670,956 (GRCm39) |
S1086T |
probably benign |
Het |
| Pde8a |
A |
G |
7: 80,932,679 (GRCm39) |
T114A |
probably benign |
Het |
| Pias4 |
A |
G |
10: 80,991,674 (GRCm39) |
|
probably null |
Het |
| Pkn3 |
G |
A |
2: 29,980,093 (GRCm39) |
G750E |
probably damaging |
Het |
| Pramel5 |
G |
A |
4: 143,999,325 (GRCm39) |
A254V |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,554,368 (GRCm39) |
L119P |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,160,190 (GRCm39) |
L395Q |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,256,839 (GRCm39) |
S51P |
probably damaging |
Het |
| Rfx5 |
A |
G |
3: 94,865,591 (GRCm39) |
T297A |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,658,063 (GRCm39) |
E272G |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,950,475 (GRCm39) |
Q396K |
probably benign |
Het |
| Snap25 |
A |
G |
2: 136,612,022 (GRCm39) |
D70G |
probably damaging |
Het |
| Spata31d1b |
C |
T |
13: 59,863,535 (GRCm39) |
P228S |
probably benign |
Het |
| Sppl3 |
T |
A |
5: 115,221,485 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
G |
6: 48,428,095 (GRCm39) |
D314G |
probably damaging |
Het |
| Steap1 |
G |
T |
5: 5,788,829 (GRCm39) |
|
probably benign |
Het |
| Suox |
T |
A |
10: 128,507,758 (GRCm39) |
D90V |
possibly damaging |
Het |
| Sycp2 |
T |
C |
2: 178,035,754 (GRCm39) |
|
probably benign |
Het |
| Tektl1 |
A |
T |
10: 78,588,698 (GRCm39) |
D37E |
probably benign |
Het |
| Tln2 |
G |
T |
9: 67,239,015 (GRCm39) |
T1087K |
probably benign |
Het |
| Uap1l1 |
A |
G |
2: 25,252,097 (GRCm39) |
S473P |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,546,896 (GRCm39) |
N882K |
probably benign |
Het |
| Zfp536 |
A |
T |
7: 37,178,730 (GRCm39) |
C228S |
probably 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 |
|
|
IGL03108:Slc39a14
|
APN |
14 |
70,556,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCCCAGGAAAAGTGAAC -3'
(R):5'- ACCATGTTGCGTCTCCAGTC -3'
Sequencing Primer
(F):5'- AACGCGCGCCTGTTCTAC -3'
(R):5'- TCCTCTAAAGGGTAAGCTGCTCAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation