Incidental Mutation 'R3832:Slc39a8'
| ID |
274046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc39a8
|
| Ensembl Gene |
ENSMUSG00000053897 |
| Gene Name |
solute carrier family 39 (metal ion transporter), member 8 |
| Synonyms |
ZIP8, BIGM103, 4933419D20Rik |
| MMRRC Submission |
040887-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3832 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
135531040-135594333 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135554894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 113
(C113S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029810]
[ENSMUST00000081978]
[ENSMUST00000167390]
[ENSMUST00000180196]
|
| AlphaFold |
Q91W10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029810
AA Change: C113S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029810
Gene: ENSMUSG00000053897
AA Change: C113S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
126 |
453 |
6.2e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081978
AA Change: C113S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080640
Gene: ENSMUSG00000053897
AA Change: C113S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
126 |
453 |
4.7e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139953
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167390
AA Change: C113S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128245
Gene: ENSMUSG00000053897
AA Change: C113S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
126 |
453 |
4.7e-72 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180196
AA Change: C113S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136634
Gene: ENSMUSG00000053897
AA Change: C113S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:Zip
|
126 |
453 |
4.7e-72 |
PFAM |
|
| Meta Mutation Damage Score |
0.6843 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
A |
C |
15: 94,229,339 (GRCm39) |
C927G |
probably damaging |
Het |
| Afdn |
T |
A |
17: 14,116,436 (GRCm39) |
D190E |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,685,602 (GRCm39) |
Y316C |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,912,686 (GRCm39) |
R118G |
possibly damaging |
Het |
| Bcar3 |
A |
G |
3: 122,220,298 (GRCm39) |
D65G |
probably damaging |
Het |
| Cacna1i |
T |
C |
15: 80,240,388 (GRCm39) |
F370S |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,986,236 (GRCm39) |
I338F |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,526,097 (GRCm39) |
M238V |
probably damaging |
Het |
| Ccdc3 |
A |
G |
2: 5,233,953 (GRCm39) |
N259S |
probably benign |
Het |
| Cep55 |
A |
G |
19: 38,041,560 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
T |
C |
10: 76,546,951 (GRCm39) |
D757G |
unknown |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyb5d2 |
G |
T |
11: 72,686,349 (GRCm39) |
S80R |
possibly damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,152,333 (GRCm39) |
D485G |
probably benign |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
| Erich3 |
G |
A |
3: 154,467,998 (GRCm39) |
V817M |
probably damaging |
Het |
| Gdf6 |
T |
C |
4: 9,844,568 (GRCm39) |
S31P |
probably benign |
Het |
| Gtsf1 |
T |
C |
15: 103,333,902 (GRCm39) |
I25V |
probably damaging |
Het |
| Hephl1 |
T |
C |
9: 14,981,044 (GRCm39) |
E796G |
probably damaging |
Het |
| Iglv2 |
A |
T |
16: 19,079,593 (GRCm39) |
M1K |
probably null |
Het |
| Kif26b |
GAAA |
GAA |
1: 178,744,181 (GRCm39) |
|
probably null |
Het |
| Klhl28 |
C |
A |
12: 64,998,195 (GRCm39) |
G433V |
probably damaging |
Het |
| Lipn |
T |
C |
19: 34,046,933 (GRCm39) |
|
probably null |
Het |
| Lypd10 |
T |
A |
7: 24,413,712 (GRCm39) |
S243T |
probably benign |
Het |
| Mapk7 |
A |
G |
11: 61,380,680 (GRCm39) |
S641P |
possibly damaging |
Het |
| Med22 |
A |
G |
2: 26,800,379 (GRCm39) |
S17P |
probably damaging |
Het |
| Or14c44 |
A |
T |
7: 86,062,401 (GRCm39) |
Y277F |
probably damaging |
Het |
| Or14j5 |
T |
C |
17: 38,162,071 (GRCm39) |
V196A |
probably benign |
Het |
| Otud1 |
G |
C |
2: 19,662,951 (GRCm39) |
A27P |
possibly damaging |
Het |
| Pcdhga6 |
A |
T |
18: 37,841,479 (GRCm39) |
N400Y |
probably damaging |
Het |
| Pdgfd |
T |
C |
9: 6,359,762 (GRCm39) |
S278P |
probably damaging |
Het |
| Pdzd7 |
A |
T |
19: 45,028,693 (GRCm39) |
V150E |
probably damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,667 (GRCm39) |
S754G |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,933,873 (GRCm39) |
|
probably null |
Het |
| Phlpp1 |
G |
A |
1: 106,320,327 (GRCm39) |
E1441K |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,214,733 (GRCm39) |
|
probably null |
Het |
| Pikfyve |
G |
A |
1: 65,283,579 (GRCm39) |
V739I |
probably damaging |
Het |
| Plcg1 |
T |
G |
2: 160,596,357 (GRCm39) |
M651R |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,226,588 (GRCm39) |
|
probably benign |
Het |
| Pus3 |
G |
C |
9: 35,477,874 (GRCm39) |
G369R |
probably benign |
Het |
| Rab11fip1 |
G |
A |
8: 27,642,774 (GRCm39) |
T675I |
probably benign |
Het |
| Scarf1 |
T |
C |
11: 75,406,078 (GRCm39) |
C121R |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,944,605 (GRCm39) |
V76A |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
| Snd1 |
G |
T |
6: 28,531,403 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,292 (GRCm39) |
S182G |
probably damaging |
Het |
| Tecta |
A |
C |
9: 42,250,329 (GRCm39) |
F1816C |
probably damaging |
Het |
| Tekt1 |
T |
C |
11: 72,245,645 (GRCm39) |
N170S |
probably benign |
Het |
| Trim47 |
T |
C |
11: 115,998,783 (GRCm39) |
T279A |
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,725,550 (GRCm39) |
K653E |
probably damaging |
Het |
| Vcam1 |
T |
C |
3: 115,908,140 (GRCm39) |
T641A |
possibly damaging |
Het |
| Vmn1r16 |
A |
G |
6: 57,300,212 (GRCm39) |
F137L |
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,576,262 (GRCm39) |
W378R |
probably damaging |
Het |
| Zfp777 |
T |
C |
6: 48,021,149 (GRCm39) |
T158A |
probably benign |
Het |
| Zp1 |
T |
C |
19: 10,893,888 (GRCm39) |
D439G |
probably damaging |
Het |
|
| Other mutations in Slc39a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Slc39a8
|
APN |
3 |
135,563,873 (GRCm39) |
missense |
probably benign |
|
|
IGL00793:Slc39a8
|
APN |
3 |
135,590,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02591:Slc39a8
|
APN |
3 |
135,590,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02868:Slc39a8
|
APN |
3 |
135,561,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Slc39a8
|
APN |
3 |
135,592,558 (GRCm39) |
splice site |
probably benign |
|
|
IGL03144:Slc39a8
|
APN |
3 |
135,589,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03329:Slc39a8
|
APN |
3 |
135,590,474 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1449:Slc39a8
|
UTSW |
3 |
135,532,446 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2869:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
|
R2869:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
|
R2870:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
|
R2870:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
|
R2871:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
|
R2871:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
|
R2872:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
|
R2872:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
|
R2873:Slc39a8
|
UTSW |
3 |
135,592,554 (GRCm39) |
splice site |
probably null |
|
|
R2937:Slc39a8
|
UTSW |
3 |
135,592,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4669:Slc39a8
|
UTSW |
3 |
135,561,772 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5057:Slc39a8
|
UTSW |
3 |
135,554,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5098:Slc39a8
|
UTSW |
3 |
135,563,918 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5677:Slc39a8
|
UTSW |
3 |
135,590,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6747:Slc39a8
|
UTSW |
3 |
135,554,941 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7181:Slc39a8
|
UTSW |
3 |
135,563,299 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7459:Slc39a8
|
UTSW |
3 |
135,592,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7506:Slc39a8
|
UTSW |
3 |
135,590,067 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7589:Slc39a8
|
UTSW |
3 |
135,590,123 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7860:Slc39a8
|
UTSW |
3 |
135,590,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8059:Slc39a8
|
UTSW |
3 |
135,532,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8096:Slc39a8
|
UTSW |
3 |
135,590,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8144:Slc39a8
|
UTSW |
3 |
135,590,404 (GRCm39) |
nonsense |
probably null |
|
|
R8218:Slc39a8
|
UTSW |
3 |
135,563,325 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9431:Slc39a8
|
UTSW |
3 |
135,563,923 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9595:Slc39a8
|
UTSW |
3 |
135,592,688 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
X0023:Slc39a8
|
UTSW |
3 |
135,532,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCATTCATATGTGCTGGCTC -3'
(R):5'- TCAGTCTTGATCCCACAAGCAG -3'
Sequencing Primer
(F):5'- ATATGTGCTGGCTCATTACTATCTG -3'
(R):5'- TCGCTAAATCTTATTTTATCAGGAGG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation